Input: 6% of the tumors showed hepatocyte growth factor overexpression, mainly seen in undifferentiated pleomorphic sarcomas and angiosarcomas, but also in clear cell sarcomas, malignant peripheral nerve sheath tumors, leiomyosarcomas and gastrointestinal stromal tumors.

hepatocyte growth factor

gastrointestinal stromal tumors


Input: Histopathological examination of the lung excluded lymphoma but revealed PAP and silicosis.

PAP

silicosis


Input: Patients carrying WRN gene mutations exhibit an elevated rate of cancer, accompanied by increased genomic instability.

WRN gene

genomic instability


Input: When overexpressed, c-Maf selectively inhibits transcriptional activation of IL-12 p40 and p35 genes while potently activating IL-10 and IL-4 expression, potentially contributing to the development of a state of anti-inflammation and dichotomy of immunologic polarization.

inflammation


Input: Disease-associating novel JAG1 gene variations were found in TOF patients, and seem to play an important role in the causation of the disease.

TOF

TOF


Input: Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP).

FMRP

Fragile X syndrome

FMRP

Fragile X syndrome


Input: In our study, we aimed to investigate the association between these three cytokines' single nucleotide polymorphisms (IL-6 gene G (-174) C, TNF-alpha gene G (-308) A and IL-1beta gene C (3954) T polymorphisms) and age-at-onset of type 1 diabetes mellitus (T1DM) in 165 diabetic children (median age: 17 years).

alpha gene

type 1 diabetes mellitus


Input: The transcription factor Sp1 additionally binds under physiological conditions to the GluR2 gene in human glioma cells and expression of a dominant-negative mutant of Sp1 reduced expression of GluR2.

glioma


Input: METHODS: KRAS, p53, BRAF mutations and flow cytometric DNA Index were evaluated by established techniques in a series of 135 human sporadic CRCs.

sporadic


Input: After 5-aza-2'-deoxycytidine treatment of gastric cancer cells, miR-10b methylation was significantly decreased, and expression of miR-10b and HOXD4, which is 1 kb downstream of miR-10b, was greatly restored.

gastric cancer


Input: The inhibition of apoptosis was associated with a decrease in expression of the proapoptotic molecules, BAK and BAX, and activation of the antiapoptotic phosphatidylinositol 3 kinase (PI3K) and AKT pathway, providing potential mechanisms for the effects of RAB25 on tumor aggressiveness.

BAK

aggressiveness


Input: COMMD1-deficiency in dogs leads to hepatic copper accumulation and chronic hepatitis representing a Wilson' s disease like phenotype.

chronic hepatitis

chronic hepatitis


Input: On western blots of muscle, LGMD2B and MM patients show a similar abundance in dysferlin staining of 15 and 11%, respectively.

dysferlin

dysferlin


Input: A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.

type B Niemann-Pick disease

type B Niemann-Pick disease


Input: In this report we present the results of mutational analysis of the CDKN2B, CDKN2C, CDK4, p53 genes and 5' UTR of the CDKN2A gene in a set of 44 sporadic primary melanomas, which had been earlier analysed for mutations in the CDKN2A (p16/p14 (ARF)) gene.

p53 genes

sporadic


Input: Promoter deletion and reporter analysis revealed that hypoxia transcriptionally activates a GADD153 promoter through the AP-1 element in neonatal cardiomyocytes.

hypoxia


Input: To compare the expression patterns of cholecystokinin-B (CCK-B)/gastrin receptor genes in matched human gastric carcinoma and adjacent non-neoplastic mucosa of patients with gastric cancer, inflammatory gastric mucosa from patients with gastritis, normal stomachs from 2 autopsied patients and a gastric carcinoma cell line (SGC-7901), and to explore their relationship with progression to malignancy of human gastric carcinomas.

gastrin receptor

non-neoplastic


Input: To determine the maximum tolerated dose (MTD), toxicity spectrum, clinical activity, and biological effects of the tropism-modified, infectivity-enhanced conditionally replicative adenovirus (CRAd), Ad5-Δ24-Arg-Gly-Asp (RGD), in patients with malignant gynecologic diseases.

CRAd

gynecologic diseases


Input: In this study, we investigated whether SIRT3 reversed renal lipotoxicity-mediated ROS and inflammation.

inflammation


Input: Ad-mda7 induces apoptosis in lung cancer cells through mitochondrial cytochrome c release in a process that is not dependent on mitochondrial membrane potential changes and occurs through mitochondrial permeability transition-independent pores.

lung cancer

lung cancer


Input: We applied PRA to 278 MAC isolates, including 126 from blood of human immunodeficiency virus (HIV)-infected patients, 59 from sputum of HIV-negative patients with chronic obstructive pulmonary disease, 88 from environmental sources, and 5 pulmonary isolates from a different study.

MAC

chronic obstructive pulmonary disease


Input: KISS1/KISS1R pituitary expression profile, coupled to their anti-tumoral capacities, led us to hypothesize that this system may be involved in the biology of pituitary tumors.

pituitary tumors


Input: These data indicate that patient NZ with leprechaunism was a compound heterozygote for 2 novel mutations in the insulin receptor gene and that direct DNA sequencing enables prenatal diagnosis for this lethal disorder.

insulin receptor

leprechaunism

insulin receptor

leprechaunism


Input: To determine whether basal-like phenotype and vimentin and/or laminin are related in both sporadic/familial (BRCA1 or BRCA2 mutated) tumours.

sporadic


Input: nor EGFR expression were independent prognostic factors for pretreated uterine cancer.

EGFR

uterine cancer


Input: X-linked Emery-Dreifuss muscular dystrophy is usually caused by absence of the nuclear membrane protein, emerin, due to nonsense mutations or deletions, but a few missense mutations also exist.

emerin

X-linked Emery-Dreifuss muscular dystrophy

emerin

X-linked Emery-Dreifuss muscular dystrophy


Input: The glutathione peroxidase 1-protein tyrosine phosphatase 1B-protein phosphatase 2A axis. A key determinant of airway inflammation and alveolar destruction.

glutathione peroxidase 1

inflammation


Input: Correspondingly, knockdown of FILIP1L in FILIP1L-high expressing, low-invasive cancer cell lines resulted in increase of cell invasion.

invasive cancer


Input: Furthermore, we found that in addition to GRIM-19, the protein level of NDUFS3, which is another mitochondrial complex I subunit, was also diminished in kidney tumor tissues when compared with paired normal tissues.

kidney tumor


Input: Altogether, over 50% of the samples showed the CpG-island methylation modification in at least one of the three tumor suppressor genes, indicating that the frequent inactivation of these genes may be an important step during oral cancer development, and the methylation inactivation of P15 or P16 may occur at pre-cancerous stage.

oral cancer


Input: rs17271305 (VPS13C) was nominally associated with 2 h blood glucose (P = 0. 009), but not with any of the insulin or insulin sensitivity parameters.

insulin sensitivity


Input: To elucidate the mechanism by which these substitutions cause AS, we determined the crystal structures of these two FGFR2 mutants in complex with fibroblast growth factor 2 (FGF2).

AS

AS


Input: We modeled ATM sequence variants identified in UK A-T patients to determine the stability and kinase activity of the resulting proteins as well as the distribution of these mutations across the coding region.

ATM

A-T

ATM

A-T


Input: The up-regulated secretion of IL-10 may inhibit immune responses against HPV infection in early cervical lesions, whereas up-regulated TNF-alpha and uncoordinated cytokine secretion (elevated both Th1 and Th2 cytokines) may reflect impaired or invalid responses in advanced stage lesions.

uncoordinated


Input: We measured the mean systolic blood pressure, renal 11beta-HSD1, and mRNA levels in streptozotocin (STZ)-induced diabetic rats that received spironolactone, insulin, or no treatment, and in nondiabetic controls that received spironolactone.

STZ

systolic blood pressure


Input: A novel type of normal human ND4 gene was synthesized artificially to contain a mitochondrial targeting sequence that induces the translocation of this gene into mitochondria.

translocation


Input: Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Kabuki syndrome

Kabuki syndrome


Input: We hypothesized that the Hp genotype would predict progression of coronary artery calcification (CAC), a marker of subclinical atherosclerosis.

CAC

coronary artery calcification


Input: Analysis of p53 sequence revealed that the gene was mutant in 33/50 (66%) BRCA-associated tumours, whereas 7/20 (35%) sporadic grade-matched tumours contained p53 mutation (P < 0. 05).

sporadic


Input: Prohibitin-2 binding modulates insulin-like growth factor-binding protein-6 (IGFBP-6)-induced rhabdomyosarcoma cell migration.

Prohibitin

rhabdomyosarcoma


Input: Importantly, 1α, 25 (OH) 2D3 treatment restores the levels of 53BP1 as efficiently as cathepsin L inhibitors, which results in increased genomic instability in response to PARPi or radiation, and reduced proliferation.

genomic instability


Input: Expression profiling and clinicopathological significance of DNA methyltransferase 1, 3A and 3B in sporadic human renal cell carcinoma.

DNA methyltransferase 1

sporadic


Input: Eva1 knockdown in GICs reduced their self-renewal and tumor-forming capabilities, whereas Eva1 overexpression enhanced these properties.

tumor


Input: These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.

prohibitin

HCC

prohibitin

HCC


Input: Importantly, residual tumor masses from mice treated by the antibodies and BRAF/ERK inhibitors combo are characterized almost exclusively by large necrotic areas with limited residual areas of tumor growth.

ERK

necrotic


Input: [Effect of intracerebral injections of somatostatin and neurotensin on motor functions in seizure].

somatostatin

seizure

somatostatin

seizure


Input: T/N (d) ratios determined by (99m) Tc-MIBI scintigraphy are useful in the prediction of response to chemotherapy with epirubicin and cyclophosphamide or docetaxel as well as in the in vivo evaluation of P-gp expression status in tumors in patients with locally advanced or recurrent breast carcinoma.

P-gp

recurrent breast carcinoma


Input: Treatment of leiomyoma cells with a phosphatidylinositol 3-kinase inhibitor, LY294 dramatically decreased levels of phospho (Ser 473)-AKT, despite R5020 treatment.

AKT

leiomyoma


Input: Conversely, excess Ca2 + elicited necrosis and activated calpain but not caspase-3.

necrosis


Input: The presence of BPI-ANCA was associated with the number of antibiotic courses, low body mass index, Pseudomonas aeruginosa colonisation, the presence of resistant P. aeruginosa, low forced expiratory volume in 1 s, CF-related liver disease, hypergammaglobulinaemia, male sex and inflammatory syndrome.

BPI

forced expiratory volume


Input: Glyphosate-rich farm air samples as well as glyphosate alone were found to induce pulmonary IL-13-dependent inflammation and promote Th2 type cytokines, but not IL-4 for glyphosate alone.

inflammation


Input: RNA sequencing from peri-infarct cortical neurons revealed that GDF10 downregulated PTEN, upregulated PI3 kinase signaling and induced specific axonal guidance molecules.

PTEN

infarct


Input: Because skeletal muscle mitochondrial proton leak may account for a large proportion of resting metabolic rate, we compared proton leak in diet-resistant and diet-responsive overweight women and compared the expression and gene characteristics of uncoupling protein (UCP) 2 and UCP3.

overweight


Input: The hypothalamus-pituitary-adrenal (HPA) axis is known to have a role in suicidal behaviors in patients with affective disorders.

HPA

suicidal


Input: In the present study, we explored the role of genetic variants of angiotensinogen (AGT, M235T), ACE (I/D), and angiotensin type 1 receptor (ATR1, A1166C) as predictors of rapid progression of subclinical coronary atherosclerosis.

coronary atherosclerosis


Input: We propose that neonatal Nav1. 5 is a novel marker with significant clinical potential for management of metastatic breast cancer and describe a number of approaches which may enable tumour-specific targeting.

Nav1. 5

tumour


Input: A 47-year-old female with idiopathic myelofibrosis developed isolated granulocytic sarcoma with der (1; 7) (q10; p10) after splenectomy, followed by acute myelogenous leukemia.

idiopathic myelofibrosis


Input: Infection of sheep with SSBP/1 scrapie resulted in PrP (Sc) deposition in the draining prescapular lymph node (PSLN) by 25 days post infection (dpi) in VRQ/VRQ genotype sheep and 75 dpi in tonsils and spleen.

SSBP

scrapie


Input: Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2.

Distal Arthrogryposis Type 5

Distal Arthrogryposis Type 5


Input: The author thinks that this tumor is PAL with inflammatory reaction.

PAL

tumor


Input: Fryns syndrome can be caused by recessive mutations in PIGN.

PIGN

Fryns syndrome

PIGN

Fryns syndrome


Input: The regulatory function of TGF-beta1 on the expression of these genes was further evaluated using leiomyoma (L) and myometrial (M) smooth muscle cells (SMC).

SMC

leiomyoma


Input: Myc and Sin3a/b co-occupied many sites on the chromatin of human leukemia cells, although the presence of Sin3 was not associated with gene down-regulation.

leukemia


Input: The CGH results in these two groups of male breast cancers are almost identical to those identified in the corresponding sporadic and BRCA2-associated female breast cancers.

sporadic


Input: Here, we show that transgenic expression of human HtrA2/Omi in the central nervous system of mnd2 mice rescues them from neurodegeneration and prevents their premature death.

neurodegeneration


Input: We identified an acquired CBL mutation and 11q-acquired uniparental disomy (11q-aUPD) in a patient with chronic myelomonocytic leukemia (CMML) secondary to FPD with RUNX1 mutation but not in the same patient during refractory cytopenia.

CBL

uniparental disomy


Input: Thus, our results indicate that DDX11 functions as a positive regulator of rRNA transcription and provides a novel insight into the pathogenesis of WABS.

WABS

WABS


Input: Taken together, these results show a novel role for p53 in mediating muscle stem cell behavior and muscle atrophy, and point to new targets for the therapeutic treatment of muscle wasting.

muscle wasting


Input: We observed a higher number of patients with the genotype E3/3 in the group without hyperlipidemia PST (P = 0. 039).

PST

hyperlipidemia


Input: CCL5/RANTES genotyping was performed by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) in 306 asthmatic patients with non-atopic (n = 145) and atopic (n = 161) asthma and 242 controls.

RANTES

atopic


Input: Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-modulating protein gelsolin causes the neurodegenerative disease familial amyloidosis of Finnish type (FAF).

FAF

neurodegenerative disease


Input: In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man.

loricrin

ichthyosis


Input: Studies of human immunodeficiency virus (HIV)-positive men have demonstrated high rates of anal intraepithelial neoplasia (AIN), a precursor to anal carcinoma, mostly in white homosexual men and men not receiving effective antiretroviral therapy (ART).

ART

carcinoma


Input: This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory.

AAT

white matter disease


Input: Of 13 proteins expressed in IM or SPEM, 8 were expressed by 17%-50% of human gastric cancer tissues (MUC13, OLFM4, CDH17, KRT20, MUC5AC, LGALS4, AKR1B10, REG4).

gastric cancer


Input: The European at-risk alleles at five loci including GNPDA2, BCDIN3D/FAIM2, SH2B1, FTO, and KCTD15 were significantly associated with increased body mass index (BMI), waist circumference (4. 5 x 10 (-8) < P < 0. 024), and/or obesity risk (odds ratio 1. 14-1. 22, 2. 0 x 10 (-5) < P < 0. 002) in our Chinese populations.

obesity


Input: In humans, mutations in the pantothenate kinase-2 gene, which encodes a key enzyme in CoA biosynthesis, are associated with neurodegeneration and premature death.

pantothenate kinase-2

neurodegeneration

pantothenate kinase-2

neurodegeneration


Input: All together, we show that administration of Sfrp4 interferes with canonical Wnt signaling that could mediate the formation of acellular scar and consequently contributes to the prevention of aggravation of cardiac function.

scar


Input: Here, we show that the loss of hPOT1 by RNA interference in BGC823 (poorly differentiated human gastric adenocarcinoma) cells leads to an increase in multinucleated giant cells, a decrease in cell proliferation and colony formation, induction of senescence and apoptosis, shortened telomere length, upregulation of the TRF1 gene and downregulation of the TRF2, tankyrase1 and hTERT genes.

gastric adenocarcinoma


Input: The decreased expression may influence the expression of VEGF-A which interferes with placental angiogenesis causing failure of embryo implantation, leading to spontaneous abortion.

VEGF-A

spontaneous abortion


Input: We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families.

AAAT

idiopathic hypoparathyroidism


Input: The subjects homozygous for the PNPLA3 148M allele carrying the rare variant of TM6SF2 showed an odds ratio of 12. 2 (confidence interval 3. 8-39. 6, P = 0. 000001) to present hypertransaminasaemia compared with the remaining patients.

hypertransaminasaemia


Input: All other parameters (fibrosis area, CD45, and CD68) were not different between the VF + and VF-group in both SCN5A + and SCN5A-patients.

fibrosis


Input: We previously demonstrated that expression of androgen receptor (AR) by transfection of the androgen-independent prostate cancer cell line PC3 decreases invasion and adhesion of these cells (PC3-AR) through modulation of alpha6beta4 integrin expression.

androgen receptor

adhesion


Input: Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the BCKDHA, BCKDHB, DBT and DLD genes, which encode the E1α, E1β, E2 and E3 subunits of the branched chain α ketoacid dehydrogenase (BCKD) complex, respectively.

BCKDHA

metabolic disease


Input: Although BRCA1 and BRCA2 play important roles in hereditary ovarian cancers, the extent of their role in sporadic ovarian cancers and their mechanisms of inactivation are not yet well understood.

sporadic


Input: Quantification by isoform specific real-time PCR revealed higher expression of AKR1C1 in nine specimens and higher expression of AKR1C3 in four specimens of endometrial cancer.

endometrial cancer

endometrial cancer


Input: The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.

BLM

BS

BLM

BS


Input: PLA2 activation and PG production are among the earliest initiating events in triggering brain-damage pathways, which can lead to long-term neurologic deficits.

neurologic deficits


Input: In this regard, GAL and its receptors appear to be a promising target for pharmacological therapy of anxiety and affective disorders.

GAL

affective disorders

GAL

affective disorders


Input: Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting were used to assess changes in the mRNA and/or protein levels of BDNF, TrkB, and the downstream signaling proteins calcium-calmodulin kinase II (CaMKII) and extracellular related kinase 1/2 (ERK1/2) at 1 h, 24 h, and 7 days following administration of intermittent noxious shock to the tail of contused subjects.

BDNF

shock


Input: The PI3-K/AKT pathway is known to have a role in both skin cancer development and resistance to therapeutic drugs.

AKT

skin cancer

AKT

skin cancer


Input: Assuming either a dominant or recessive mode of inheritance, close linkage to the marker PFKL, which has been reported as possibly linked to affective disorder, seems unlikely in the families studied here.

PFKL

affective disorder

PFKL

affective disorder


Input: Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death.

MIM

craniosynostosis


Input: The expression rates of Notch1 and Notch3 protein in tongue carcinoma were higher than those in adjacent non-neoplastic tongue tissues (χ² = 6. 10, P = 0. 013; χ² = 3. 94, P = 0. 047).

non-neoplastic


Input: We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive.

mineralocorticoid receptor

sporadic


Input: 2) IL28Brs12979860 polymorphisms are not associated with disease progression or aggression (histological staging, severity of fibrosis in CH or the incidence of post-HCV HCC).

HCC

fibrosis


Input: This phenomenon could be ligand independent, as the AhR ligand 2, 3, 7, 8-Tetrachlorodibenzo-p-Dioxin (TCDD) did not alter prostate cancer cell growth.

AhR

prostate cancer

AhR

prostate cancer


Input: To evaluate whether the Trp64Arg polymorphism in the beta3-adrenergic receptor (AR) gene is associated with decreased birth weight and might account for some of the association between birth weight and impaired insulin sensitivity, the beta3-AR genotype was assessed in 296 neonates of singleton pregnancies, including 76 neonates classified as small for gestational age (SGA) and 220 neonate classified as appropriate for gestational age (AGA).

small for gestational age


Input: The results showed that (1) PM2. 5 deposited in the lung and induced pathological damage, particularly causing abnormal alterations of mitochondrial structure, including mitochondrial swelling and cristae disorder or even fragmentation in the presence of higher doses of PM2. 5; (2) PM2. 5 significantly affected the expression of specific mitochondrial fission/fusion markers (OPA1, Mfn1, Mfn2, Fis1, and Drp1) in rat lung; (3) PM2. 5 inhibited Mn superoxide dismutase (MnSOD), Na (+) K (+)-ATPase, and Ca (2 +)-ATPase activities and elevated malondialdehyde (MDA) content in rat lung mitochondria; and (4) PM2. 5 induced rat AMs to produce ROS, which was inhibited by about 84. 1% by diphenyleneiodonium chloride (DPI), an important ROS generation inhibitor.

DPI

mitochondrial swelling


Input: Additionally, recent pre-clinical studies suggested enzalutamide might have the potential adverse effect of inducing metastasis of prostate cancer cells via Stat3 activation.

prostate cancer

prostate cancer


Input: These studies demonstrate that destruction of the elastin fiber network during AAA formation is dependent on macrophage-derived MT1-MMP, which unexpectedly serves as a direct-acting regulator of macrophage proteolytic activity.

AAA

AAA


Input: Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies.

autism

autism


Input: Supporting this hypothesis, arthritic disease driven by exuberant TNF-alpha expression was not impeded by fibrinogen deficiency.

TNF-alpha

fibrinogen deficiency


Input: Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.


Input: For example, the concomitant presence of the epidermal growth factor (EGF) receptor and its ligand EGF is associated with enhanced tumor aggressiveness and shorter survival following tumor resection.

EGF

aggressiveness


Input: Two heat-shock elements (HSE) are present in the rat HSP70 promoter.

shock


Input: AIM: To use a range of assays, genetically modified animals and pharmacological tools to determine the role of NF-κB in CS-induced airway inflammation.

AIM

inflammation


Input: IL-17A signaling is suppressed due to the downregulation of the receptor by the intrinsic activation of TGF-β1 in SSc fibroblasts, which may amplify the increased collagen accumulation and fibrosis characteristic of SSc.

fibrosis


Input: Changes in paired-pulse facilitation that became overt in the presence of the GABAA antagonist picrotoxin indicated a function of mGluR4 in maintaining the excitation/inhibition balance, which is of crucial importance for information processing in the brain and the deterioration of these processes in neuropsychological disorders such as autism, epilepsy and schizophrenia.

schizophrenia

schizophrenia


Input: We conducted an in-depth characterization of 210 T-cell receptor beta chain (TRB) clonotypes derived from T cells of HLA-A2 + melanoma patients displaying cytotoxic activity against natural and A27L-modified Melan-A peptides.

TRB

melanoma


Input: Therefore replacement of part of the amino-terminal kinase regulatory domain of ATF-1 protein with EWS regulatory domain results in an altered DNA binding, protein-protein interactions and transcriptional activation properties of EWS-ATF-1 causing deregulated gene expression which may be responsible for the genesis of t (12; 22) chromosome translocation-bearing human solid tumors.

EWS

chromosome translocation


Input: Glycoprotein Ibalpha inhibition and ADP receptor antagonists, but not aspirin, reduce platelet thrombus formation in flowing blood exposed to atherosclerotic plaques.

ADP receptor

thrombus

ADP receptor

thrombus


Input: Ablation of the GNB3 gene in mice does not affect body weight, metabolism or blood pressure, but causes bradycardia.

GNB3 gene

bradycardia


Input: The objective of the study was to assess LOX-1 expression and Nrf2 activation in preeclamptic placentas and to manifest their physiological roles in preeclampsia.

preeclampsia


Input: The breakpoint cluster region is characterized by a complex architecture with large (approximately 38-49 kb), inverted and directly oriented, low-copy repeats (LCRs), known as REPA and REPB that apparently lead to genomic instability and facilitate somatic genetic rearrangements.

breakpoint cluster region

genomic instability


Input: Microarray-based gene expression data unexpectedly demonstrated a significant number of up-or down-regulated immune-and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e. g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e. g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e. g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR.

inflammation


Input: In summary: 1) a second generation recombinant adenovirus resulted in high-level expression of human apoA-I in mice; 2) significantly higher levels of human apoA-I persisted for a longer time in LDLR-deficient mice compared with apoE-deficient mice; and 3) substantial human apoA-I was found associated with TG-rich lipoproteins in apoE-deficient but not LDLR-deficient mice.

LDLR

adenovirus


Input: Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

Folate receptor alpha

cerebral folate transport deficiency

Folate receptor alpha

cerebral folate transport deficiency


Input: Higher [Ca2 +] i results in greater calcium-dependent proteolysis, which may eventually lead to necrosis.

necrosis


Input: Using exome and genome sequencing, we identified the recurrent de novo mutations c. 650G & gt; A (p. Arg217His) and c. 649C & gt; T (p. Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS.

GCMS

GCMS


Input: Importantly, both CHK2 and BRCA1 are lost at very high frequency in aneuploid lung adenocarcinomas that are typically induced in knockout mice exhibiting chromosomal instability.

aneuploid


Input: Genotype-phenotype correlations for APS-1 remain difficult, suggesting that other genetic or environmental factors, or both, influence the clinical presentation and disease progression in individual APS-1 patients.


Input: In this study, we focus on the regulation of ER & #945; by miR-301a and its role in transition from estrogen-dependent to estrogen-independent breast cancer.

breast cancer

breast cancer


Input: Germline deletions in the EPCAM gene as a cause of Lynch syndrome-literature review.

EPCAM

Lynch syndrome

EPCAM

Lynch syndrome


Input: RESULTS: The median concentrations of VEGF, IL-8, and TNF-alpha were significantly higher in induced sputum of COPD patients (1, 070 pg/ml, 5. 6 ng/ml and 50 pg/ml, respectively) compared to nonsmokers (260 pg/ml, 0. 73 ng/ml, and 15. 4 pg/ml, respectively, p < 0. 05) and asymptomatic smokers (421 pg/ml, 1. 27 ng/ml, p < 0. 05, and 18. 6 pg/ml, p > 0. 05, respectively).

asymptomatic


Input: Taken together, these results suggest that activated Ki-Ras-mediated signals are involved in the SEK1-JNK pathway through a PKC isotype that is distinct from that involved in MEK1/2-ERK activation in human colon cancer cells and independent of phosphoinositol 3-kinase activation, and the imbalance between ERK and JNK activity caused by activated Ki-Ras may play critical roles in human colorectal tumorigenesis.

colon cancer


Input: The hypothesis that the atrium could be a source of BNP was examined in patients with lone atrial fibrillation (AF), the most common type of sustained arrhythmia.

BNP

arrhythmia


Input: Our results are the first to show that PDE4A expression is altered in patients with bipolar disorder and provide potential new therapeutic avenues for treatment of this disorder.

bipolar disorder

bipolar disorder


Input: The aim of the current study was to clarify whether SFRP2 methylation and K-ras structural mutation in fecal DNA can be found in stool and tumoral tissues of individuals with fistula-associated mucinous type anal adenocarcinomas (MTAA). Two man patients (68 and 56 years old) were treated for anorectal fistula in the surgical department.

fistula


Input: Some studies have pointed to a role of UCP3 in the regulation of biochemical and fat parameters in overweight patients.

overweight


Input: Three of the genes, QPCT, CYP1B1, and LXN, are densely methylated in & gt; 95% of uncultured melanoma tumor samples.

melanoma

melanoma


Input: A common developmental language disorder, specific language impairment (SLI), affects 6%-7% of children with normal nonverbal intelligence and has evidence of a genetic basis in familial and twin studies.

SLI

developmental language disorder


Input: Somatic Chk2 coding mutations were detected in 7/141 cases, these occurring in 4/18 BRCA1-associated breast cancers, 1/78 sporadic breast cancers and 2/25 typical medullary carcinomas.

sporadic


Input: Polymorphism of the platelet glycoprotein IIIa gene in patients with coronary stenosis.

platelet glycoprotein IIIa

coronary stenosis


Input: Hypomethylation of the cyclin D2 promoter was found in 24 (71%) of the 34 tumor tissues and in 6 (29%) of the 21 corresponding non-neoplastic mucosa, the incidence being significantly different (p = 0. 002; Fisher' s exact test).

cyclin D2

non-neoplastic


Input: In addition, 74 point mutations are known to enhance amyloid formation causing familial amyloidotic polyneuropathy (PAP).

PAP

polyneuropathy


Input: Our data demonstrate the importance of the RIP3-MLKL interaction in the formation of functional necrosomes and suggest that translocation of necrosomes to mitochondria-associated membranes is essential for necroptosis signaling.

translocation


Input: We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis.

EDS IV

EDS IV


Input: A previously reported missense mutation in the CTSC gene (NM_001814. 4: c. 899G & gt; A: p. (G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry.

CTSC

PLS

CTSC

PLS


Input: EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.

vascular endothelial growth factor receptor-2

major depression

vascular endothelial growth factor receptor-2

major depression


Input: Expression of cell cycle-associated proteins CDK4, p27, and E2F-1 in chondrosarcoma of the jaws.

chondrosarcoma


Input: The results indicated that in women with metabolic syndrome waist circumference, body mass index, HOMA index, glucose, total cholesterol and triglyceride levels were significantly increased in parallel with overxpressed plasma levels of leptin and NGF and decreased adiponectin.

NGF

body mass index


Input: Treatment of MM cells with egr-1 short interfering RNA suppressed proliferation, which was overridden by exogenously added recombinant FGF-1 and, in particular, FGF-2.

MM

MM


Input: To determine the contribution of the tumor necrosis factor alpha gene (TNFA) to the immunogenetic risk prediction of type 1 diabetes (T1D) in the Belgian population, well-characterized antibody-positive patients with type 1 diabetes (T1D), nondiabetic control subjects, and nuclear families were analyzed for HLA-DQA1-DQB1, TNFA-308 G/A promoter single nucleotide polymorphism (SNP) and TNFa microsatellite markers in both case-control and transmission studies.

alpha gene

type 1 diabetes


Input: Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1.

craniofacial abnormalities

craniofacial abnormalities


Input: Semaphorin 3E is aberrantly expressed in prostate cancer and affects adhesion and motility of prostate cancer cells, indicating a role for the Sema3E/PlexinD1 signaling pathway in prostate cancer and identifying a new possible target for therapy.

adhesion


Input: Compared with vehicle-treated control mice, TSA-treated mice exhibited a significant reduction in proteinuria, glomerulonephritis, and spleen weight.

TSA

glomerulonephritis


Input: The current findings are consistent with a strong tonic influence of leptin receptor signalling on hypothalamic GALP expression under normal conditions, and possible abnormalities in GALP neuronal signalling and their putative targets, thyrotropin-releasing hormone and gonadotropin hormone-releasing hormone neurons, under pathophysiological conditions such as diabetes and obesity.

GALP

abnormalities


Input: Altered von Willebrand factor molecule in children with thrombosis following asparaginase-prednisone-vincristine therapy for leukemia.

von Willebrand factor

thrombosis

von Willebrand factor

thrombosis


Input: Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO.

XPG

XP-G

XPG

XP-G


Input: The gene responsible for Usher syndrome type III is named clarin-1 and it is thought to be involved in hair cell and photoreceptor cell synapses.

Usher syndrome type III

Usher syndrome type III


Input: The suppression of either FLJ10540 or FOXM1 could cause significant inhibition on cell migratory and invasive ability in oral cancer cells.

oral cancer


Input: Our results confirmed ORMDL3 as a candidate gene for childhood asthma susceptibility.

asthma susceptibility


Input: Our study confirms the usefulness of array CGH for increasing the detection rate of NSD1 abnormalities and for diagnosing syndromic patients that do not present an easily recognized phenotype.

abnormalities


Input: A therapy using a monoclonal antibody to CD40L was developed that slows weight loss, delays paralysis and extends survival in an ALS mouse model.

ALS

ALS


Input: However, the presence of one or more of these conditions (asthma, cough or atopy) increased risk (OR 2. 24, 95% CI 1. 15-4. 38) in individuals possessing the T/T genotype at interleukin 1-β-31T/C, but not in those possessing the C/T (OR 0. 87, 95% CI 0. 51-1. 57) or C/C genotypes (OR 0. 58, 95% CI 0. 27-1. 27), and in individuals having the * 2 variable number of tandem repeat allele of IL1RN [OR 5. 09 (1. 39-18. 67)], but not in those without (OR 0. 93, 95% CI 0. 63-1. 35).

interleukin 1-β

atopy


Input: Day curve studies (blood collected every 2 h for 24 h; n = 2 mild and 7 severe) demonstrated abnormal regulation of aldosterone by ACTH rather than by AII in both groups.

AII

mild


Input: The most significant joint region contained the gene PABPC1, which should be considered further for its role in UC progression.

UC

UC


Input: The first priority genes to be selected were genes that are known to be amplified in cancer, which included NKX2. 1, CHST9, CTNND2, SLC25A27, FGFR2, EGFR, and PTGER1.

cancer


Input: Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands.

KITLG

Waardenburg syndrome type 2

KITLG

Waardenburg syndrome type 2


Input: Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.

breast cancer

breast cancer


Input: Endothelial GATA-6 is a direct transcriptional regulator of genes controlling vascular tone [endothelin-1, endothelin-1 receptor type A, and endothelial nitric oxide synthase (eNOS)], pro-inflammatory genes, CX3CL1 (fractalkine), 5-lipoxygenease-activating protein, and markers of vascular remodeling, including PAI-1 and RhoB.

endothelial nitric oxide synthase

vascular remodeling


Input: Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder.

bipolar disorder

bipolar disorder


Input: A SNP haplotype in the third intron of STAT4 was associated with susceptibility to both rheumatoid arthritis and systemic lupus erythematosus.

systemic lupus erythematosus

systemic lupus erythematosus


Input: Thus, M-CSF is locally produced in periprosthetic tissues of loose hip joints and possibly contributes to periprosthetic weakening and osteolysis via joint fluid, leading to prosthetic loosening.

M-CSF

osteolysis


Input: Its importance in fluid regulation in cerebral edema conditions has been highlighted in several studies, and we have also shown that translational regulation of AQP4 by miR-320a could prove to be useful in infarct volume reduction in middle cerebral artery occluded rat brain.

infarct


Input: Fifteen kinases were repeatedly vulnerable in myeloma cells, including AKT1, AK3L1, AURKA, AURKB, CDC2L1, CDK5R2, FES, FLT4, GAK, GRK6, HK1, PKN1, PLK1, SMG1, and TNK2.

GAK

myeloma


Input: Full-field ERGs were consistent with rod-cone dystrophy with pattern ERG evidence of severe macular involvement.

ERG

rod-cone dystrophy


Input: The present study investigated the potential therapeutic utility of combining a 5-HT7 antagonist with a selective serotonin (5-HT) reuptake inhibitor (SSRI), the standard of care in depression, on circadian rhythm regulation.

depression

depression


Input: We have therefore investigated the bradykinin B1-receptor (B1R) and B2-receptor (B2R) mRNA expression in rat models of MI, LVH and diabetes mellitus (DM).

diabetes mellitus


Input: Others included: demographic variables (gender, SES, education); the intake of coffee and diet soda; genetic markers (protease inhibitor " Pi " type, ABO type, ABH secretor status); and familial pulmonary disease.

ABH

pulmonary disease


Input: Dynamic iodide trapping by tumor cells expressing the thyroidal sodium iodide symporter.

sodium iodide symporter

tumor

sodium iodide symporter

tumor


Input: We aimed to identify microRNAs that regulate inflammation during the development of ulcerative colitis (UC) and progression to colitis-associated colon cancer (CAC).

CAC

colon cancer


Input: Seven cyst fluids (8%) had either a TP53 mutation or loss of CDKN2A or SMAD4 in addition to KRAS and/or GNAS mutations; 5 of 7 (71%) were clinically malignant, and high-grade cytology was detected in all 5.

cyst


Input: In an animal model of depression, Flinders Sensitive Line rats, and Sprague Dawley controls we analyzed if 7 weeks of social isolation of adult animals affect the number of newly proliferated cells in the dentate gyrus or mRNAs of Neuropeptide Y (NPY), the NPY-Y1 receptor, nociceptin, BDNF, and the serotonin 5HT1A and 5HT2A receptors, which are molecules involved in hippocampal plasticity.

nociceptin

depression

nociceptin

depression


Input: Moreover, CHC and FTCD were useful to distinguish early HCC from benign tumors such as regenerative nodule or focal nodular hyperplasia, because the sensitivity and specificity of the markers are 41. 2% and 77. 8% for CHC, 44. 4% and 80. 0% for FTCD, which is comparable with those of glypican-3 (33. 3% and 100%).

HCC

nodule


Input: Treatment-naive, HER2-positive BC patients with stage IIIA, B, C or inflammatory disease were randomized 1: 1: 1 to daily afatinib (50 mg), lapatinib (1500 mg), or weekly trastuzumab (4 mg/kg loading dose, then 2 mg/kg/wk) for 6 weeks until surgery or follow-up neoadjuvant treatment.

inflammatory disease


Input: The loss of the RPE and photoreceptors in later stages of the disease is a secondary consequence of choroidal degeneration.

RPE

secondary


Input: This is the first report of a translocation involving RBP56/hTAFII 68, a protein with sequence homology to both EWS and TLS/FUS.

EWS

translocation


Input: Knockdown of HIF-1α expression was constructed by adenovirus-mediated RNA interference tools, and HCC cell lines infected with shHIF-1α coding virus were cultured under a hypoxia condition (1% O2) for 24 hours.

HCC

adenovirus


Input: Introduction of the ST7 cDNA into a prostate cancer-derived cell line abrogated in vivo tumorigenecity in nude mice.

prostate cancer


Input: This study demonstrates that in vitro characterization of missense variations in the HMBS gene can provide valuable information for the interpretation of clinical, biochemical and genetic data, for establishing a diagnosis of AIP.

HMBS

AIP

HMBS

AIP


Input: FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.

hypocalcified amelogenesis imperfecta

hypocalcified amelogenesis imperfecta


Input: VHL, involved in tumorigenesis of PGLs and clear cell renal cell carcinomas, may be an important player in the pathogenesis of sporadic HNPGLs via activation of an HIF-1α/miR-210 pHx pathway.

PGLs

tumorigenesis


Input: One-way analysis of variance (ANOVA) was performed between each genetic marker and 24-h systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as two-way ANOVAs to test the interaction effect with job strain.

DBP

systolic blood pressure


Input: A large family, St. Mark' s family 96, with a tendency to develop colonic polyps of mixed histological types is described.

Mark' s

colonic polyps


Input: This study provides unequivocal evidence that a base pair change causing a Val30Met substitution at the junction of the first TM domain and the extracellular loop of PMP22 results in the HNPP phenotype.

HNPP

HNPP


Input: Genetic analysis of the DLGAP1 gene as a candidate gene for schizophrenia.

schizophrenia

schizophrenia


Input: In amygdala, arginine vasopressin mRNA levels were unchanged after chronic " binge " cocaine, but were increased during acute cocaine withdrawal.

arginine vasopressin

cocaine withdrawal

arginine vasopressin

cocaine withdrawal


Input: Cyclin-dependent kinase-like 5 (CDKL5) gene abnormalities cause an early-onset epileptic encephalopathy.

abnormalities


Input: In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines.

allergy

allergy


Input: However, the C-allele carrier group had significantly higher mean body weight, body mass index, leptin levels, and higher indices of insulin resistance compared with women with GNAS1 TT-genotype.

body weight


Input: To investigate the role of Ptp4a3 in malignancy, we used the most commonly studied murine colitis-associated colon cancer model.

colon cancer

colon cancer


Input: Defects in GNPTG cause mucolipidosis type III gamma, which is characterized by missorting and cellular loss of lysosomal enzymes leading to lysosomal accumulation of storage material.

GNPTG

mucolipidosis type III gamma

GNPTG

mucolipidosis type III gamma


Input: The EVI1 gene encodes a zinc-finger, DNA-binding protein originally described as the transforming gene associated with a common ecotropic viral insertion site in myeloid leukemias.

DNA-binding protein

myeloid leukemias


Input: Although transforming growth factor-beta (TGF-beta) is believed to stimulate intimal hyperplasia after arterial injury, its role in remodelling remains unclear.

TGF-beta

arterial injury


Input: The MCD + HF diet further enhanced insulin resistance and led to rapid development of pre-cirrhosis in OLETF rats by increasing the triglyceride pool, activating stellate cells, and up-regulating gene expression for sterol regulatory element-binding protein-1c and fatty acid synthase in the liver.

fatty acid synthase

insulin resistance


Input: To explore the association between the PTGES2 R298H SNP and body mass index (BMI).

body mass index


Input: In this study, the XRCC1 Arg194Trp, XRCC1 Arg280His, and XRCC1 Arg399Gln-polymorphisms, had no relevant modifying effect on lung cancer risk and cumulative smoking dose.

smoking


Input: In vivo, treatment with troglitazone before ischemia prevented induction of Egr-1 and its target genes such as interleukin-1beta, monocyte chemotactic protein-1, and macrophage inflammatory protein-2.

ischemia

ischemia


Input: These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder.


Input: Kaplan‑Meier survival curves and the Cox regression model were applied to evaluate the clinical significance of the expression levels of CXCL14 in colorectal carcinoma compared with those in normal tissues.

regression


Input: We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p. M50K, p. T188I, p. R333M, p. Y457X, and c. 499 +? _629-?).

LPI

LPI


Input: Incontinentia pigmenti is an X-linked dominant or sporadic multisystemic disorder with involvement of skin, eyes and central nervous system which results from mutations in the gene for NF-kappaB essential modulator (NEMO).

NF-kappaB

sporadic


Input: Apart from ethical considerations inherently linked to treating children, major obstacles for the treatment of LCA could be the putative developmental deficiencies in the visual cortex in persons blind from birth (amblyopia), the absence of sufficient numbers of viable photoreceptor or RPE cells in LCA patients, and the unknown and possibly toxic effects of overexpression of transduced genes.

RPE

amblyopia


Input: The phenotype is associated with at least a ~ 0. 113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans.

speech delay


Input: We now delineate the clinical characteristics of an HPS-4 patient homozygous for a novel HPS-4 mutation, P685delC.


Input: In addition, NCOA3, MYC, EGFR, and RAB20 amplifications, as well as TP53 deletions correlated with increased DNA stem line values and/or aneuploidy in adenomas (P < 0. 05).

aneuploidy


Input: Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.

atopy


Input: Gene ontology analysis further showed that the MYC-induced, altered gene expression was primarily associated with various cellular processes, such as metabolism, cell adhesion, growth and proliferation, cell cycle, inflammation and tumorigenesis.

MYC

inflammation


Input: Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.

cleft lip


Input: The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios > 2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17.

hypertrophy


Input: Loss-of-function mutations in the WNT4 gene appear to cause developmental abnormalities of sexual differentiation in women and mice.

WNT4 gene

abnormalities


Input: Signaling via the G-protein-coupled beta-adrenergic receptors has been implicated in cardiac hypertrophy and heart failure, suggesting that PI3Kgamma might play a role in the pathogenesis of heart disease.

cardiac hypertrophy

cardiac hypertrophy


Input: In addition, BS15 inhibited the insulin resistance; decreased the mRNA levels of acetyl-CoA carboxylase 1, fatty acid synthase, and peroxisome proliferator-activated receptor γ; and increased the expression of the fasting-induced adipose factor in livers.

fatty acid synthase

insulin resistance


Input: Finally, we found that siRNA-mediated silencing of ZNF396 gene inhibited the proliferation of TE354. T basal cell carcinoma cells.

ZNF396 gene

basal cell carcinoma


Input: Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations.

VMCM

VMCM


Input: Gene expression of endothelin-1 and endothelin receptor a on monocrotaline-induced pulmonary hypertension in rats after bosentan treatment.

pulmonary hypertension

pulmonary hypertension


Input: To corroborate these findings in vivo, neutrophil infiltration in self-limited peritonitis was reduced in human ALX/FPR2-overexpressing transgenic mice that was further limited to 50% by RvD1 treatment with as little as 10 ng of RvD1 per mouse.

peritonitis


Input: A review of the literature identified 177 unique LCA causing mutations in eight different genes: aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), crumbs homolog 1 (CRB1), cone-rod homeobox (CRX), guanylate cyclase 2D (GUCY2D), nephronophthisis 6 (NPHP6), retinol dehydrogenase 12 (RDH12), retinal pigment epithelium-specific protein 65 kDa (RPE65), and retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1).

nephronophthisis


Input: Selected mutant BRAF proteins promoted variable gain of function of the kinase, but appeared less activating compared to the recurrent cancer-associated p. Val600Glu mutant.

BRAF

recurrent cancer


Input: A metabolic switch from GLS2 to GLS1 was observed in a series of tissues representing progressive pathologic states mimicking HCC oncogenic transformation, including normal liver, fibrotic liver, dysplasia nodule, and HCC.

nodule


Input: These findings indicated that TRPV1 activation ameliorates high-fat diet-induced atherosclerosis.

atherosclerosis

atherosclerosis


Input: In addition, GG genotype of CNR1 was significantly correlated with elevated levels of body mass index, systolic blood pressure, homeostasis model assessment of insulin resistance, and C-reactive protein, as well as decreased levels of high-density lipoprotein cholesterol in patients with T2DM.

C-reactive protein

insulin resistance


Input: [Relationship between pneumoconiosis and the polymorphisms of HLA-DRB1 *, DQB1 * genes].

pneumoconiosis


Input: The results showed that TMP induced apoptosis and caused cell cycle arrest in Jurkat and SUP-B15 cells through the downregulation of GSK-3β, which may have further prevented the induced translocation of NF-κB and c-myc from the cytoplasm to the nucleus.

TMP

translocation


Input: The crucial role of the beta2-integrin subfamily in leukocyte emigration was established after leukocyte adhesion deficiency (LAD) I was discovered.

leukocyte adhesion deficiency


Input: Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen' s disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.

psoriasis


Input: GAS strains known to be highly pathogenic in mice and monkeys caused significantly lower survival and had significantly lower LD 50s in wax worms than GAS strains associated with attenuated virulence or asymptomatic carriage.

GAS

asymptomatic


Input: This upregulation of CX3CR1 corresponded to a significant increase in migration and invasion of prostate cancer cells under hypoxic conditions, which was attenuated after knocking down CX3CR1 expression.

hypoxic


Input: Prevention of severe toxic liver injury and oxidative stress in MCP-1-deficient mice.

liver

liver


Input: Multivariate analysis of ploidy results using paxillin and EZH2 expression as dependent variables revealed that aneuploid tumors were associated with disease stage and grade of differentiation, cerbB2 expression and EZH2 expression.

aneuploid


Input: In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis.

PTRF

generalized lipodystrophy

PTRF

generalized lipodystrophy


Input: First, we confirmed that marijuana smoke condensate (MSC) induces oxidative stress in BEAS-2B cells.

MSC

marijuana


Input: Among our SMA patients with a SMN1 homozygous deletion, we found a family with two patients: the son with SMAII possesses 3 SMN2 copies and the nearly asymptomatic father has a homozygous deletion of SMN1 exon 7 and carries 4 SMN2 copies.

asymptomatic


Input: Early mortality and the retinoic acid syndrome in acute promyelocytic leukemia: impact of leukocytosis, low-dose chemotherapy, PMN/RAR-alpha isoform, and CD13 expression in patients treated with all-trans retinoic acid.

RAR

leukocytosis


Input: Evidence has been provided of enhanced epithelial transforming growth factor-beta (TGF-beta) immunoreactivity in allergic rhinitis, including correlation with intra-epithelial mast cell numbers, and the co-localisation of TGF-beta receptors to mast cells, suggesting that the epithelial expression of TGF-beta may represent an important biological process involved in either the recruitment or retention of mast cells within the epithelium in naturally occurring allergic rhinitis.

TGF-beta

rhinitis


Input: In conclusion, these results suggest that elevated expression of AEG-1 plays an important role in the aggressiveness and angiogenesis of cervical carcinoma and that AEG‑1 represents a novel and valuable predictive factor for the prognostic evaluation of cervical carcinoma patients.

aggressiveness


Input: We show here that ectopic overexpression of the E3 ubiquitin ligase Rad18 (a central regulator of TLS) induces DNA damage-independent mono-ubiquitination of proliferating cell nuclear antigen (PCNA) (a known Rad18 substrate) and FANCD2.

E3 ubiquitin ligase

mono


Input: By controlling gamma-TuRC localization, BRCA1 appropriately inhibits centrosome function, and loss of BRCA1 would result in centrosome hyperactivity, supernumerary centrosomes and, possibly, aneuploidy.

aneuploidy


Input: Intriguingly, in certain NE lung tumor cell lines, the levels of processed LC3 (LC3-II) were inversely correlated with AKT activity.

lung tumor


Input: Expression profiling of SSTR1-5 was performed on biopsies from 34 GISTs (16 gastric tumors, 15 small intestinal tumors, and three rectal tumors).

intestinal tumors


Input: These findings identify PAR-2 as a novel upstream regulator of proinflammatory cytokine production in RA and indicate its potential as a novel therapeutic target in inflammatory arthritis.

PAR

inflammatory arthritis


Input: This study aimed to detect the expression of newly discovered zinc finger transcriptional factor KLF6 and its splice variant KLF6 SV2 in primary hepatocarcinoma (PHC) tissues and hepatoma cell strains, and to evaluate their clinicopathologic relationship with PHC.

hepatocarcinoma


Input: Interestingly, episodes of serum withdrawal, glucose deprivation or hypoxia aimed at inducing early oxidative stress triggered Bcl-2-overexpressing cells to preserve mitochondrial levels of COX Va while depressing COX Vb, whereas the reverse was observed in mock-transfected cells.

COX

hypoxia


Input: These findings correlated clinically to the significantly higher plasma/serum MMP-1 level in asthmatic patients.

asthmatic

asthmatic


Input: No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause.

sporadic


Input: The association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia as well as the correlation between cachexia and the candidate polymorphisms and overall survival were analyzed.

SELP

cachexia


Input: The DNMT1 increase and the GAD67 decrease in BA9 interneurons are significant features of SZ and bipolar disorder with psychosis.

bipolar disorder

bipolar disorder


Input: In osteoclast progenitor cells, JNK2 promotes differentiation, which may contribute to the progression of bone metastasis.

bone metastasis


Input: In healthy adult men (age > or = 20 years, n = 677), we genotyped IL-6-572C > G and CRP SNPs (-717G > A, 1444C > T, 2147A > G) and measured anthropometric parameters, lipid profile, serum levels of CRP and IL-6 and insulin resistance.

CRP

insulin resistance


Input: In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.

STS

hepatic steatosis

STS

hepatic steatosis


Input: We conducted a randomized crossover (five arms) double-blind placebo-controlled study in 10 healthy volunteers genotyped for CYP2D6.

arms


Input: Changes in the length of a polymorphic trinucleotide (CAG) repeat in the androgen receptor (AR) gene, which may lead to altered transactivation of the AR gene, have been implicated to play a role in the pathogenesis of several forms of endocrine cancer and certain reproductive disorders.

AR gene

endocrine cancer


Input: Semiquantitative reverse transcriptase PCR analysis in 10 carious and 10 healthy pulpal tissue samples of the S100 family members S100A8, S100A9, S100A10, S100A12, and S100A13; the cytokines tumor necrosis factor alpha (TNF-alpha), interleukin-1beta (IL-1beta), IL-8, IL-6, and epithelial cell-derived neutrophil attractant 78 (ENA-78); and the structural protein collagen-1alpha indicated that all genes tested, with the exception of S100A10, were more abundantly expressed in carious teeth.

carious teeth


Input: HMGB1-neutralizing antibody attenuated the development of CH-induced PH, as assessed by measurement of right ventricular systolic pressure, right ventricular hypertrophy, pulmonary vascular remodeling and endothelial activation and inflammation.

right ventricular hypertrophy


Input: In patients with HCC in NCL, HBV and HCV markers are rare (20%), and mild iron overload is frequent (54%).

NCL

iron overload


Input: Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene.

EVA

enlargement


Input: The secretion of IL-6 by BMSCs was completely inhibited by 10 (-9) mol/L PACAP, which also attenuated the phosphorylation of both p42/44 and p38 mitogen-activated protein kinases (MAPK) as well as nuclear factor-kappaB (NF-kappaB) activation in response to the adhesion of multiple myeloma cells to BMSCs, whereas the inhibition of p42/44 MAPK signaling attenuated PACAP action.

NF-kappaB

adhesion


Input: To determine how extracellular signal-regulated kinases (ERK) 1/2 promote mammary tumorigenesis, we examined the real-time behavior of cells in an organotypic culture of the mammary glandular epithelium.

ERK

mammary tumorigenesis


Input: We have studied the effect of genetic polymorphisms in the DNA repair genes hOGG1, XRCC1, XRCC3, ERCC2 and the MTHFR gene in the folate metabolism on the frequencies of cells with chromosomal aberrations (CA), chromosome-type aberrations (CSA), chromatid-type aberrations (CTA), chromatid breaks (CTB) and chromatid gaps (CTG) scored in peripheral blood lymphocytes from 651 Norwegian subjects of Caucasian descendant.

chromosomal aberrations


Input: Rearrangements of the SOX3 locus were identified recently in three cases of human XX male sex reversal.

sex reversal


Input: The carriage of IL-10-592 C (age and sex-adjusted odds ratio [OR]: 1. 851, 95% confidence interval [CI]: 1. 018-3. 380) and IL-10-819 C (adjusted OR: 1. 868, 95% CI: 1. 023-3. 411) allele were associated with an increased risk for gastric cancer development, not gastric ulcer and duodenal ulcer.

gastric ulcer


Input: RhoA and Rho kinase contribute to pulmonary vasoconstriction and vascular remodeling in pulmonary hypertension.

Rho kinase

pulmonary hypertension


Input: These data on human pancreatic and colon cancers, along with information in earlier studies on SCCHN, indicate that alterations in the OGF receptor are dependent on tumor type and that the integrity of the OGF-OGFr axis insofar as tumorigenesis needs to be evaluated for each type of neoplasm.

OGFr

tumorigenesis


Input: Similar to Abca4 (-/-) mice, Abca4 (PV/PV) mice showed substantial A2E and lipofuscin accumulation in their RPE cells but no retinal degeneration up to 12 months of age.

RPE

retinal degeneration


Input: We previously cloned the translocation breakpoint junctions present in the leukemic cells from three such patients and identified a gene, BCL3, whose transcription is increased as a result of the translocation.

translocation


Input: Heparanase and vascular endothelial growth factor expression is increased in hypoxia-induced retinal neovascularization.

Heparanase

retinal neovascularization


Input: Moreover, Wnt/β-catenin pathway represses NCAM expression in glioma cells, which depends on miR-30a-5p.

NCAM

glioma


Input: Here, using microarray, proteomics and Systems Biology modeling; we compare the global gene expression of CD30 (lo) and CD30 (hi) cells to identify key pathways of neoplastic transformation.

neoplastic transformation


Input: Thus, the alleles detected by this restriction fragment length polymorphism in the DRD1 gene are associated with EH, and they appear to influence the diastolic blood pressure of Japanese EH patients.

DRD1 gene

diastolic blood pressure


Input: We found that diet-induced insulin resistance promoted amyloidogenic beta-amyloid (Abeta) Abeta1-40 and Abeta1-42 peptide generation in the brain that corresponded with increased gamma-secretase activities and decreased insulin degrading enzyme (IDE) activities.

IDE

insulin resistance


Input: Analysis of associations between 5-HTT, 5-HTR2A, and GABRA6 gene polymorphisms and health-associated personality traits.

personality traits


Input: Among them, chronic inflammation, including chronic hepatitis and cirrhosis mainly caused by hepatitis B virus and/or hepatitis C virus infection, plays an important role in HCC development.

HCC

chronic hepatitis


Input: We also show that Nrf2 may reveal significant gene expression changes, suggesting that Nrf2 activation may ameliorate liver fibrosis.

liver fibrosis

liver fibrosis


Input: Increased expression of IL-4 via gene therapy may decrease RA-associated inflammation by reducing proinflammatory cytokines and PGE2.

inflammation


Input: Expression of STAT1, its target genes SOCS1, IRF1, CXCL9, CXCL10, CXCL11, IFIT1, IFITM1, MX1 and genes characteristic for immune cell infiltration (CD68, CD163, PD-L1, PD-L2, PD-1, CD45, IFN-γ, FOXP3) was determined by RT-PCR in two independent cohorts comprising 132 breast cancer patients.

breast cancer


Input: OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.

OCT

asymptomatic


Input: Membrane activation markers (CD25 +, CD28 +, CD45RO +, CD69 +, CD62L +, HLA-DR +), FoxP3 + and intracellular IFN-γ expression were evaluated on both CD4 + and CD8 + T-lymphocytes from asymptomatic carriers with PVL ≥ and < 1% of infected cells, using flow cytometry.

asymptomatic


Input: Our findings suggest that HTRA2-regulated protein quality control in the intermembrane space of mitochondria is important for the maintenance of mitochondrial homeostasis, and loss of HTRA2 activity can lead to both neurodegeneration and aging.

neurodegeneration


Input: The protease inhibitor Elafin prevents intestinal inflammation in mouse models of colitis and might be developed as a therapeutic agent for inflammatory bowel disease.

Elafin

inflammation


Input: This was associated with a marked reduction in TGF-β1, interleukin (IL)-6, IL-23 and IL-17A both locally in skin plaque lesions and systemically in the plasma, resulting in inhibition of both the T helper (Th) 17 cell transcription factor RORγt and accumulation of CD4 (+) IL-17A (+) cells within the skin plaque lesions.

skin plaque


Input: The progression of rat liver fibrosis induced by intraperitoneal administration of thioacetamide (TAA) was evaluated by immunocytochemistry using anti-alpha-smooth muscle actin (alpha-SMA), antiendothelin-converting enzyme (ECE)-1, and anti-monocyte chemotactic protein (MCP)-1 antibodies.

MCP

liver fibrosis


Input: This explorative study characterizes degenerative aneurysmal disease general inflammatory conditions that are dominated by profound activation of the NF-kappaB and AP-1 pathways, hyperexpression of IL-6 and IL-8, and neutrophil involvement.

aneurysmal disease


Input: The cytotoxic effect of Aplidin was investigated on fresh leukaemia cells derived from children with B-cell-precursor (BCP) acute lymphoblastic leukaemia (ALL) by using stromal-layer culture system and on four cell lines, ALL-PO, Reh, ALL/MIK and TOM-1, derived from patients with ALL with different molecular genetic abnormalities.

TOM

leukaemia


Input: Our objective was to determine the mutation status of KCNJ5 and seven additional candidate genes for tumorigenesis: YY1, FZD4, ARHGAP9, ZFP37, KDM5C, LRP1B, and PDE9A and, furthermore, the surgical outcome of PA patients who underwent surgery in Western Norway.

tumorigenesis


Input: The breakpoint on 6q13 was located within the COL12A1 gene, a collagen gene purportedly involved in another benign bone tumor, subungual exostosis.

COL12A1 gene

benign bone tumor


Input: There was a significant interaction between birthweight and VDR gene in determining risk of osteophytosis in men (p for interaction = 0. 04).

VDR gene

birthweight


Input: Here, we show that intrabone or periosteal inoculation of p53 (-/-) or p53 (-/-) RB (-/-) bone marrow-or adipose tissue-derived MSCs originated metastatic osteoblastic osteosarcoma (OS).

osteoblastic osteosarcoma


Input: Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24. 2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.

ASD

ASD


Input: The tumor suppressor gene mutated in multiple advanced cancers/phosphatase and tensin homologue (MMAC/PTEN) has been shown to inhibit cell migration, spreading, and focal adhesion.

tensin

cancers


Input: These results suggest a role for the posterior hippocampus in the neuroadaptations that occur during prolonged withdrawal, and point to a signaling partner of GR, HSP90AA1, as a novel dysregulated target during cocaine withdrawal.

cocaine withdrawal

cocaine withdrawal


Input: Major differences between the normal control and the family with IH include: (1) higher calcemic response in the family with IH (0. 9 vs 0. 4 mg/dl); (2) a fall in carboxyl-terminal PTH and urinary cyclic AMP in the IH family in contrast to control subjects in whom there were no changes; (3) a rise in serum phosphorus in the IH family (0. 8 vs 0. 2 mg/dl, p less than 0. 05).

PTH

fall


Input: A model incorporating gender, APOE epsilon 4 status and IGF-I levels predicted recovery or not from delirium in 76. 5% of cases, with a sensitivity 0. 77 and specificity 0. 75.

IGF-I

delirium

IGF-I

delirium


Input: Here, we show that in vitro SOD1 aggregation is a multistep reaction that minimally consists of dimer dissociation, metal loss from the monomers, and oligomerization of the apo-monomers: [reaction: see text], where D (holo), M (holo), M (apo), and A are the holo-dimer, holo-monomer, apo-monomer, and aggregate, respectively.

dissociation


Input: To investigate whether KIR and HLA genes could influence the risk of HBV-associated HCC development, 144 HBV-infected patients with HCC and 189 well-matched HBV infectors with chronic hepatitis or cirrhosis as non-HCC controls were enrolled in this study.

HCC

chronic hepatitis


Input: Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.

breast cancer

breast cancer


Input: We conclude that the allele B (BB or Bb genotype) in vitamin D receptor gene is correlated with large amount albuminuria in the Han Chinese population with type 2 diabetes, and is probably a risk factor for early-onset diabetic nephropathy.

vitamin D receptor

albuminuria


Input: Beta2-adrenergic receptor genotype and survival among patients receiving beta-blocker therapy after an acute coronary syndrome.

acute coronary syndrome


Input: Expression of plasma phospholipid transfer protein mRNA in normal and emphysematous lungs and regulation by hypoxia.

phospholipid transfer protein

hypoxia


Input: We found that the expression of the 13 genes were significantly (P < 0. 01) down-regulated in grade II, III, IV of astrocytoma compared to normal brain tissues, including ERCC1, ERCC2, ERCC3, ERCC4, MGMT, MLH1, MLH3, NTHL1, OGG1, RAD50, SMUG1, XRCC4 and XRCC5.

astrocytoma


Input: Restored expression of the MYO18B gene suppresses orthotopic growth and the production of bloody pleural effusion by human malignant pleural mesothelioma cells in SCID mice.

mesothelioma

mesothelioma


Input: Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.

postaxial polydactyly type A

postaxial polydactyly type A


Input: Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17.

tau

frontotemporal dementia

tau

frontotemporal dementia


Input: Downregulation of RUNX3 and TES by hypermethylation in glioblastoma.

glioblastoma

glioblastoma


Input: These findings suggest that germline p53 mutations are important in familial and, possibly sporadic, breast tumors.

sporadic


Input: Gene polymorphisms ABO C > T (rs505922), F5 C > G (rs6427196), MTHFR C > T (rs1801133), and FGG C > T (rs6536024) were not associated with height, weight, or morbid obesity among European subjects.

ABO

morbid obesity


Input: A proportion of extraskeletal myxoid chondrosarcomas (EMC) have been shown to have a characteristic translocation t (9; 22) (q22; q12) involving the EWS gene at 22q12 and the CHN orphan nuclear receptor gene at 9q22.

EWS gene

translocation


Input: Subcutaneous tumor foci of the human HCC cell line, HuH7, established in athymic mice were directly transduced with a recombinant adenovirus (rAd) harboring an HSV-tk gene driven by a human alpha-fetoprotein promoter, followed by GCV administration.

HCC

adenovirus


Input: Overall, seven genes were consistently upregulated both in tissue samples and in cell cultures from patients with knee osteoarthritis (BCL9, FZD5, DVL2, EP300, FRZB, LRP5, and TCF7L1).

knee osteoarthritis


Input: Body composition (dual-energy x-ray absorptiometry), abdominal fat distribution (magnetic resonance imaging), liver fat (magnetic resonance spectroscopy), high sensitivity C-reactive protein, insulin sensitivity (euglycemic hyperinsulinemic clamp), and a panel of different markers of blood coagulation and fibrinolysis in the fasting state were measured.

C-reactive protein

insulin sensitivity


Input: Enhanced expression of BCL2/adenovirus EIB 19-kDa-interacting protein 3 mRNA, a candidate for intrinsic depression-related factor, and effects of imipramine in the frontal cortex of stressed mice.

protein 3

depression

protein 3

depression


Input: To investigate the association between DAZ gene methylation patterns and spermatogenic failure, we performed an analysis of methylation patterns in 174 idiopathic infertile patients and 58 fertile controls using bisulfite-modified sequencing.

DAZ

infertile


Input: In the pilocarpine model of temporal lobe epilepsy, mossy fibers coexpress the inhibitory transmitter neuropeptide Y (NPY) with glutamate.

neuropeptide Y

temporal lobe epilepsy

neuropeptide Y

temporal lobe epilepsy


Input: We propose that the PIK3CB gene included in our patient' s chromosome 3q deletion may be the gene responsible for microcephaly and other patients with blepharophimosis-ptosis-epicanthus inversus syndrome because of a chromosome 3q deletion.

PIK3CB gene

epicanthus inversus


Input: In this study, we examined the expression of ZFX in HCC and its possible functional implications in liver tumorigenesis.

ZFX

tumorigenesis


Input: Predictors of efficacy were examined in multivariate regression models that included eight polymorphic variants in four candidate genes (four in RGS2, two in HTR2A, one in SLC6A2, and one in SLC6A4).

regression


Input: We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB.

RRS

RRS


Input: Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..

trisomy 2p


Input: To gain insight into the methylation silencing of the WNT pathway during colorectal carcinogenesis, we examined the aberrant methylation profile of four genes, APC, Axin1, Axin2, and GSK3β in an unselected series of 112 sporadic colorectal tumors by methylation specific PCR.

sporadic


Input: An interstitial deletion, independent from the translocation and flanked by VWF and KRAS2, was also detected on the der (12).

VWF

translocation


Input: Bone marrow cells from Mll5-deficient mice were defective in spleen colony-forming assays, and the mutant mice showed enhanced susceptibility to 5-fluorouracil-induced myelosuppression.

myelosuppression


Input: We report a pediatric case of B lymphoblastic leukemia (BLL) with t (12; 21) (p13; q22); TEL-AML1 (ETV6-RUNX1) showing erythrophagocytosis and thrombophagocytosis by leukemic blasts.

erythrophagocytosis


Input: We genotyped the TNF-308G/A polymorphism (rs1800629) by PCR-RFLP in 348 patients with SCH, 361 patients with BPAD and in 351 controls.

TNF

BPAD

TNF

BPAD


Input: Identification of the RET mutation in the Dutch population with hereditary C-cell carcinoma facilitates genetic testing for families or individuals at risk for MEN 2A, FMTC, and MEN 2B.

RET

FMTC

RET

FMTC


Input: In our survey of breast cancer cells, we now demonstrate that exposure to hypoxic conditions increases WASF3 expression levels in MDA231, SKBR3 and MCF7 cells.

hypoxic


Input: In 11 of 14 patients, there was a significant increase in sPLA2 mRNA levels in the adenoma over the normal tissue.

adenoma


Input: Similarly, in transient-transfection assays, both SV2-IFN and IE94-IFN gave only low basal mRNA synthesis, but superinfection with HSV again led to high-level accumulation of IFN mRNA.

superinfection


Input: Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH).

fumarate hydratase

Hereditary leiomyomatosis and renal cell cancer

fumarate hydratase

Hereditary leiomyomatosis and renal cell cancer


Input: We show that 1, 25-dihydroxyvitamin D3 (1, 25 (OH) 2D3) and its non-hypercalcemic analog, EB1089, decrease PTHrP mRNA and cellular protein levels in the androgen-dependent human prostate cancer cell line LNCaP and its androgen-independent derivative, the C4-2 cell line.

PTHrP

prostate cancer

PTHrP

prostate cancer


Input: An essential role for stromal interaction molecule 1 in neointima formation following arterial injury.

stromal interaction molecule 1

neointima formation


Input: We show that inhibition of both PKR and ADAR1 by the addition of adenovirus-associated RNA stimulates replicon expression and reduces the amount of inosine recovered from RNA in replicon cells.

PKR

adenovirus


Input: Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis.

autistic disorder

autistic disorder


Input: These experiments link specific induction of TGF-beta1 by a bacterial infection to an in vivo Th17 immune response and show that this cellular response is sufficient for protection against GAS.

GAS

bacterial infection


Input: Recent advances in cancer biology have revealed that many malignancies possess a hierarchal system, and leukemic stem cells (LSC) or leukemia-initiating cells (LIC) appear to be obligatory for disease progression.

LSC

malignancies


Input: Novel polymorphisms in the neuropeptide-Y Y5 receptor associated with obesity in Pima Indians.

Y5 receptor

obesity

Y5 receptor

obesity


Input: To elucidate the influence of the alpha1-antichymotrypsin (ACT) polymorphism on Alzheimer-type neuropathological changes and the development of sporadic Alzheimer' s disease (AD), we studied the relationship between the ACT polymorphism and the severity of Alzheimer-type neuropathological changes in the brains from AD patients and nondemented subjects.

ACT

sporadic


Input: Administration of a PDGF-A antagonist greatly reduced bone resorption, osteomalacia, and bone marrow fibrosis in a rat model for hyperparathyroidism, suggesting that PDGF-A is a causative agent for this disease.

PDGF-A

hyperparathyroidism


Input: These data suggest that BAG1 plays a key role in affective resilience and in regulating recovery from both manic-like and depression-like behavioral impairments.

depression

depression


Input: We treated 32 patients with Ph1-negative chronic myeloproliferative disorders (CMD) with excessive thrombocytosis with Interferon alpha-2b (IFN alpha-2b): 26 had essential thrombocythaemia, ET (18 previously untreated, eight pretreated); one thrombocythaemia after treatment for Hodgkin' s disease (HD); two thrombocythaemia associated with non-Hodgkin' s lymphoma (NHL); three stage II idiopathic myelofibrosis (IM).

idiopathic myelofibrosis


Input: Using the STAM NASH-HCC mouse model, we find that HGF-induced FRA1 activation is associated with the fibrosis-dependent development of HCC.

HCC

fibrosis


Input: We hypothesized that mutations in the beta-3-adrenergic receptor (beta 3AR) gene might result in the lipoatrophic phenotype by preventing triglyceride storage in adipocytes; thereby, resulting in secondary insulin resistance.

beta-3-adrenergic receptor

insulin resistance


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

ovarian cancer

ovarian cancer


Input: While patients with partially controlled viremia and poor CD4 T cell reconstitution manifested poor proliferative responses to anti-CD3 or HIV gag antigen stimulation, proliferative responses to Cgamma chain utilizing cytokines IL-2, IL-7, and IL-15 were robust.

viremia


Input: Several genes have been newly associated with gastric carcinogenesis, both through oncogenic activation (MYC, SEMA5A, BCL2L12, RBP2 and BUBR1) and tumor suppressor gene inactivation mechanisms (KLF6, RELN, PTCH1A, CLDN11, and SFRP5).

carcinogenesis


Input: NPY in a dose of 2 mg (470 pmol), but not 1 mg, inhibited some excitatory effects of picrotoxin, but did not change the epileptic symptoms.

NPY

epileptic

NPY

epileptic


Input: Clear cell sarcoma (CCS) harbors a pathognomonic chromosomal translocation fusing the Ewing' s sarcoma gene (EWS) to the CREB family transcription factor ATF1 and exhibits melanocytic features.

EWS

chromosomal translocation


Input: Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.

Joubert syndrome

Joubert syndrome


Input: Higher nuclear SOX18 expression was associated with presence of residual disease following surgical treatment (p = 0. 0158) and advanced disease stage (p = 0. 0056).

residual disease


Input: Additionally, pkr1-null mice showed diminished thermal hyperalgesia after acute inflammation elicited by mustard oil and reduced pain behavior after chronic inflammation produced by complete Freund' s adjuvant.

thermal hyperalgesia

thermal hyperalgesia


Input: GM-CSF hypersensitivity of the 2-oncogene model (MN1/HOXA9) was lost in Stat5b (-/-) cells, and the LIC expansion potential was reduced by 86-and 28-fold in Stat5b (-/-) and Stat1 (-/-) cells, respectively.

hypersensitivity


Input: Indeed, increased levels of HSF1 counteract the effects of aneuploidy on HSP90 expression and protein folding, identifying HSF1 overexpression as the first aneuploidy-tolerating mutation in human cells.

aneuploidy


Input: CD56 +/CD4 + lymphomas and leukemias are morphologically, immunophenotypically, cytogenetically, and clinically diverse.

leukemias


Input: BMC transplantation reduced post-infarction fibrosis, improved neovascularization, and increased proliferation, while all these effects in repairing the failing myocardium were eliminated by HMGB1-inhibition.

neovascularization


Input: Allelic deletions of the p53 gene previously were demonstrated by Southern hybridization to occur in high frequency in sporadic colon carcinomas and in a variety of other human tumors.

p53 gene

sporadic


Input: Persistently reduced CD4 (+) T-lymphocyte counts in the face of undetectable HIV viremia are seen in a sizable percentage of HIV-infected patients undergoing antiretroviral therapy (ART).

viremia


Input: In our present study, reduced p21 and Gadd45a expressions and increased centrosomal abnormality (atopic and multiple centrosomes) were observed in both arsenite-treated H1355 and p53-inhibited BEAS-2B cells as compared with similarly treated BEAS-2B cells.

atopic


Input: Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: TCV-116 abolished the upregulation of IGF-I gene and protein expression in the late phase in association with the regression of cardiac hypertrophy.

IGF-I

regression


Input: Gene mutations and polymorphisms of TP53 and FHIT in chronic esophagitis and esophageal carcinoma.

FHIT

chronic esophagitis


Input: These data demonstrated that FSHD2 mutations only result in decreased ATP hydrolysis, whereas many BAMS mutations can result in elevated ATPase activity and decreased eye size in & lt; i & gt; Xenopus & lt;/i & gt; Interestingly, a mutation reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller & lt; i & gt; Xenopus & lt;/i & gt; eye size.


Input: We describe a novel clinical phenotype of acral self-healing collodion baby caused by a new TGM1 mutation.

acral self-healing collodion baby

acral self-healing collodion baby


Input: Two patients with germline wild-type CYLD showed, however, a somatic mutation in the gene (1 duplication, 1 substitution mutation).

CYLD

somatic mutation


Input: Under similar irradiation conditions with a priming and challenging irradiation in wtp53 cells, induction of radioresistance and a depression of chromosomal aberrations were observed only in the absence of 5, 5'-(2, 5-Furanidiyl) bis-2-thiophenemethanol (RITA) or Nutlin-3 (p53-Hdm2 interaction inhibitors), aminoguanidine (an inducible nitric oxide synthase inhibitor), and c-PTIO (an NO radical scavenger).

chromosomal aberrations


Input: This preliminary screening demonstrates that deletions of copies of DAZ genes may be often found in severely infertile men and it strengthens the role of this gene family in spermatogenesis.

DAZ

infertile


Input: LITAF is associated with obesity and insulin resistance, as well as inflammatory cytokine secretion.

LITAF

insulin resistance


Input: Accordingly, ectopic LITAF expression in B-cell lymphoma cells enhanced autophagy responses to starvation, which were impaired upon LITAF silencing.

LITAF

starvation


Input: Microarray studies from lung homogenates of mice exposed to only 3h of hypoxia revealed endothelin-1 (ET-1) and connective tissue growth factor (CTGF) as the most upregulated genes, and the mitogen-activated protein kinase (MAPK) pathway as the most differentially regulated pathway.

CTGF

hypoxia


Input: The study aim was to assess the relationship of passive and active smoking to breast cancer risk by N-acetyltransferase 2 (NAT2) phenotype, using a comprehensive assessment of both passive and active smoking.

smoking


Input: Upregulation of the E3 ligase NEDD4-1 by oxidative stress degrades IGF-1 receptor protein in neurodegeneration.

neurodegeneration


Input: Western blotting and quantitative polymerase chain reaction (qPCR) were carried out to determine the expression levels of proteins related to adhesion and migration, such as matrix metalloproteinase-2 (MMP2), tissue inhibitors of metalloproteinase-2 (TIMP2), and epithelial cadherin (E-cadherin).

adhesion


Input: Measurement of plasma HC and protein C in MPD may identify patients more likely to suffer arterial disease and splanchnic vein thrombosis and who may require plasma HC lowering in the former case.

protein C

splanchnic vein thrombosis


Input: Faciogenital dysplasia (FGDY; MIM 305400), or Aarskog syndrome, is an X-linked developmental disorder that adversely affects the formation of specific skeletal structures including elements of the face, the cervical vertebrae, and the distal extremities.

MIM

developmental disorder


Input: To study these relationships in more detail, we examined whether BRCA2 germline mutations are associated with familial pancreatic cancer.

familial pancreatic cancer

familial pancreatic cancer


Input: Post-I/R myocardial infarction sizes were larger in SENP1 (+/-) mice.

myocardial infarction


Input: Of interest, the I1e 113--& gt; Phe substitution occurred in only Caucasian MPS IVA patients and in none of the GALNS alleles of 20 Japanese patients.

GALNS

MPS IVA

GALNS

MPS IVA


Input: No major difference in K-ras and p53 abnormalities in sporadic and hereditary nonpolyposis colorectal adenomas.

sporadic


Input: A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

BMPER

diaphanospondylodysostosis

BMPER

diaphanospondylodysostosis


Input: Lesions of the adrenal associated with AICS, independently of their GNAS, PRKAR1A, PDE11A, and PDE8B mutation status, have functional abnormalities of cAMP signaling.

abnormalities


Input: Ncan (-/-) mice were hyperactive and showed more frequent risk-taking and repetitive behaviors, less depression-like conduct, impaired prepulse inhibition, amphetamine hypersensitivity, and increased saccharin preference.

Ncan

depression


Input: In conclusion, using FISH to identify MAML2 rearrangement is a valuable diagnostic tool in the evaluation of thymic malignancies, specifically, distinguishing TMEC from squamous cell carcinoma and adenosquamous carcinoma.

FISH

squamous cell carcinoma


Input: In the clinical samples of meningioma, the levels of cathepsins B and L, stefin B, and cystatin C were highest in the tumors of higher histological grades, whereas stefin A and progesterone receptor were the only markers that were significantly increased and decreased, respectively, in WHO Grade III lesions.

progesterone receptor

meningioma

progesterone receptor

meningioma


Input: A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.

down syndrome

down syndrome


Input: Cyr61, a member of the CCN (CTGF/Cyr61/NOV) family of growth regulators, is a secreted cysteine-rich proangiogenic factor that has been implicated in tumorigenesis.

tumorigenesis


Input: In this study, we found that the expression levels of IF1 protein and mRNA in gastric cancer tissues were significantly higher than those in matched adjacent nontumor tissues.

gastric cancer


Input: These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.

autism

autism


Input: Somatic mutations, allelic loss and hypermethylation of the ATBF1 gene were analysed in 76 sporadic HCCs.

sporadic


Input: To investigate this phenotypic heterogeneity, exonic point mutations in the URO-synthase gene were identified in unrelated CEP patients.

URO-synthase

CEP

URO-synthase

CEP


Input: This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier' s disease, provide further evidence of the critical role of Ca (2 +) signaling in maintaining epidermal integrity.

HHD

HHD


Input: Ethnic divergence and linkage disequilibrium of novel SNPs in the human NLI-IF gene: evidence of human origin and lack of association with tuberculosis susceptibility.

NLI

tuberculosis


Input: These findings reveal a calcium-and cAMP-PKA-independent signaling cascade and suggest a role for JAK2-STAT3 transduction in & #945; 4 & #946; 2-mediated attenuation of LPS-induced inflammation.

inflammation

inflammation


Input: Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder.

separation anxiety disorder

separation anxiety disorder


Input: The demonstration that IFN-γ and IL-13 both significantly reduce ciliated cell differentiation and CBF in CRSwNP patients, and IL-13 additionally induces significant goblet cell hyperplasia and MUC5AC mucin expression, as well as IL-17 significantly increases MUC5B mucin expression, suggests that these inflammatory cytokines may be potential therapeutic targets in the management of CRSwNP.

IFN

hyperplasia


Input: These results suggest that the cellular accumulation of p53 protein caused by over-expression of SUMO-1 may be involved in tumor aggressiveness.

aggressiveness


Input: We concluded that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe.

FGGY

sporadic


Input: Lactating rats on days 11-12 of lactation had significantly greater number and mean staining intensity of orexin-A immunoreactive neurones, prepro-orexin mRNA expression food intake and body weight than nonlactating postpartum rats.

prepro-orexin

body weight


Input: Treatment of HCMEC with IL-18 increases 1) NF-kappaB DNA binding activity; 2) induces kappaB-driven luciferase activity; 3) induces IL-1beta and TNF-alpha expression via NF-kappaB activation; 4) inhibits antiapoptotic Bcl-2 and Bcl-X (L); 5) up-regulates proapoptotic Fas, Fas-L, and Bcl-X (S) expression; 6) induces fas and Fas-L promoter activities via NF-kappaB activation; 7) activates caspases-8,-3,-9, and BID; 8) induces cytochrome c release into the cytoplasm; 9) inhibits FLIP; and 10) induces HCME cell death by apoptosis as seen by increased annexin V staining and increased levels of mono-and oligonucleosomal fragmented DNA.

mono


Input: To investigate toll-like receptor 2 (TLR2)-196 to-174 del, and TLR4 (+ 896A/G rs4986790 and + 1196C/T rs4986791) polymorphisms at risk of chronic gastritis and gastric cancer in a Brazilian population and association of gastric lesions with risk factors such as smoking, alcohol intake and Helicobacter pylori infection.

smoking


Input: Autopsy and postmortem examination case study on genetic risk factors for cardiac death: polymorphisms of endothelial nitric oxide synthase gene Glu298Asp variant and T-786C mutation, human paraoxonase 1 (PON1) gene and alpha2beta-adrenergic receptor gene.

cardiac death


Input: Our data do not support the hypothesis that NOS3 is a genetic risk factor for stroke.

stroke


Input: p53 gene mutations were detected in 42 of 86 sporadic ovarian cancers, compared with 13 of 15 cancers with somatic BRCA1 mutations (P = 0. 007) and 16 of 20 cancers with germ-line BRCA1 mutations (P = 0. 01).

p53 gene

sporadic


Input: From a recent vascular transgene-assisted zebrafish forward genetic screen, we have identified a ubiad1 mutant, reddish/reh, which exhibits cardiac edema as well as cranial hemorrhages and vascular degeneration owing to defects in endothelial cell survival.

cardiac edema

cardiac edema


Input: In summary, LRRC4/NGL-2 is a critical gene in the normal development and tumorigenesis of the nervous system.

NGL

nervous system


Input: Similar studies with somatic cell mutants deficient in some component of cyclic AMP action or metabolism indicated that the depression in purine synthetic rates required G1 arrest and did not result from cell death.

AMP

depression

AMP

depression


Input: Dimer dissociation is the first step in SOD1 aggregation, and studies suggest nearly every amino acid residue in SOD1 is dynamically connected to the dimer interface.

dissociation


Input: Intron 7 of EWSR1, the most common site of translocation, was also sequenced in all subjects.

translocation


Input: We also found that males with intellectual disability in another reported family with an NSDHL mutation (c. 1098 dup [p. Arg367SerfsX33]) have CKS.

NSDHL

CKS

NSDHL

CKS


Input: Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

chylomicron retention disease

chylomicron retention disease


Input: Spirometric data revealed that% FEV1 and% FEF75 were significantly different among the 3 groups of IL-13 genotypes, whereas no significant differences were observed in therapeutic steps, atopic status, house dust mite sensitization, or serum IgE concentration.

atopic


Input: We examined the impact of the PC-1 K121Q variant on the rate of decline of the glomerular filtration rate (GFR) by creatinine clearance derived from the Cockroft-Gault formula in 77 type 1 diabetic patients with albuminuria who were followed for an average of 6. 5 years (range 2. 5-15).

GFR

albuminuria


Input: Here, we report that exposure to DAC triggers senescence in chronic leukemia cell lines as evidenced by increased senescence-associated β-galactosidase activity and lysosomal mass, accompanied by an up-regulation of cell cycle-related genes.

DAC

chronic leukemia


Input: This study examined the effect of HDAC inhibition on renal fibrosis induced by diabetes or transforming growth factor (TGF)-beta1 and determined the role of reactive oxygen species (ROS) as mediators of HDAC activation.

HDAC

renal fibrosis


Input: However, the specific p53 mutations in the BRCA1 mutant cancers were no more unique to this cohort than the p53 mutations of the sporadic cancers.

sporadic


Input: Similarly, NET-KO mice displayed higher resistance to convulsions engendered by kainic acid.

NET

convulsions

NET

convulsions


Input: Various cellular processes including cell growth, proliferation, migration and adhesion are regulated by activation of the PI3K/AKT signaling pathway, and nucleus pulposus cells are known to strongly express the phosphorylated survival protein AKT.

AKT

adhesion


Input: Fifty-two of 55 Chinese subjects with deafness accompanied by enlargement of the vestibular aqueduct (EVA) exhibited at least one mutant SLC26A4 allele, whereas SLC26A4 mutations were found in only 2 of 116 deaf Chinese patients without EVA.

EVA

enlargement


Input: The rationale of this array-CGH study was to map and size 22q deletions around the NF2 gene in sporadic schwannoma using a reliable method with maximal resolution.

NF2 gene

sporadic


Input: In this study, we have genotyped 6 uncoupling protein 3 (UCP-3) polymorphisms (-55C/T, Int2-143G/C, Tyr99Tyr, Int3-47G/A, Int4-498C/T, and Tyr210Tyr) among 214 overweight Korean female subjects recruited from an obesity clinic.

uncoupling protein 3

overweight


Input: While invasion of U-NB1 cells was inhibited by blocking antibodies against CD57, neither invasion of SK-N-BE (2)-C cells nor adhesion of U-NB1 and SK-N-BE (2)-C cells was attenuated.

adhesion


Input: The APOA1-75 G/A polymorphism was significantly associated with gallstone disease.

gallstone disease


Input: DNA microarrays revealed that netrin and DCC had common and divergent impacts on gene expression linked to cell cycle, survival, surface signaling and adhesion.

DCC

adhesion