Input: Furthermore, cartonectin showed a significant negative association with body mass index, waist to hip ratio, glucose, insulin, total cholesterol, low-density lipoprotein-cholesterol, triglycerides, High sensitivity C-reactive protein (hs-CRP) and intima-media thickness (P <. 05 and P <. 01, respectively); in multiple regression analyses, triglycerides (P =. 040) and hs-CRP (P =. 031) were predictive of cartonectin levels (P <. 05).

CRP

waist to hip ratio


Input: In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia.

filgrastim

pancytopenia

filgrastim

pancytopenia


Input: Thus, loss of RB function does not provide a proliferative advantage to c-MYC-expressing HCC cells but the RB and c-MYC pathways may cooperate to control the polyploidy of mature hepatocytes.

HCC

polyploidy


Input: This genomic response was preceded by the appearance within 30 min of substantially increased amounts of Ser-P-ANXA1 and by translocation of the phosphorylated protein to the cell surface.

translocation


Input: t (14; 18) translocation was not associated with Bcl-2 or Bcl-6 expression.

translocation


Input: A human lung cancer cell line, A549, which expresses a high level of vascular endothelial growth factor (VEGF) under hypoxia, was used as an in vitro system for bLF treatment.

VEGF

hypoxia


Input: We found increased expression of HIF-1 & #945; and HIF-1 & #946; mRNA, as well as the target genes, VEGF, and PFKFB3 in both MDD and BPD patients in a depressive state compared to healthy control subjects.

depressive state

depressive state


Input: To better define the role of VPF/VEGF in tumor biology, we screened tumorigenic lines for those expressing minimal constitutive and hypoxia-inducible VPF/VEGF.

VEGF

hypoxia


Input: HIF-1, a heterodimer of HIF-1α and HIF-1β, binds to the hypoxia responsive element (HRE) present in the promoter regions of hypoxia responsive genes, such as vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors.

BLM gene

sporadic


Input: Apoptosis was not observed in astrocytes with deficient neutral sphingomyelinase 2 (nSMase2), indicating that ceramide generated by nSMase2 is critical for amyloid-induced apoptosis.

amyloid


Input: This phenomenon is not limited to TGF & #946; since other growth factors implicated in fibrosis, such as FGF, EGF and PDGF-B, also regulated PDGF-D and PDGF-C expression.

PDGF-D

fibrosis

PDGF-D

fibrosis


Input: Significantly, IGF1-mTOR-, AKT-, RAS-, VEGF-, Wnt-and immune-related signaling, eIF2-and proteasome-related genes were unique to SZ.

SZ

SZ


Input: In this study we analysed snap-frozen surgical resections of 16 superficial spreading melanomas, 13 nodular malignant melanomas, 2 lentigo maligna melanomas, 1 dysplastic nevus, 1 congenital nevus and 5 normal nevi from 38 patients for point mutations in the human p53 gene at exons 5-8 by polymerase chain reaction/single-strand conformation polymorphism as well as for loss of heterozygosity of p53 by restriction-fragment-length polymorphism/polymerase chain reaction in order to determine whether p53 aberrations are associated with melanoma subtypes.

lentigo maligna


Input: Exacerbated inflammation in Lcn2 (-/-)/Il10 (-/-) mice is driven by IL-6, which also controls tumorigenesis.

tumorigenesis


Input: Our study indicates that: i) SDC may share some genetic alterations with IDC, ii) high AR expression in SDC may play a role in tumor progression, and iii) p53 overexpression and DNA aneuploidy in both entities reflect their aggressive behavior.

SDC

aggressive behavior


Input: At both ages, this effect was independent of parental atopy, FLG status, or report of an itchy flexural rash at 2 months.

FLG

rash


Input: We show that the mouse gamma 2b heavy chain or human beta-globin 3' untranslated region can greatly enhance protein expression in myeloma cells transfected by genes coding for antibody-plasminogen activator fusion proteins.

beta-globin

myeloma


Input: The growth-inhibitory effects of GTA, compared to the histone deacetylase inhibitor Vorinostat (SAHA), were assessed in established human glioma cell lines (HOG and Hs683 oligodendroglioma, U87 and U251 glioblastoma) and primary tumor-derived glioma stem-like cells (GSCs), relative to an oligodendrocyte progenitor line (Oli-Neu), normal astrocytes, and neural stem cells (NSCs) in vitro.

glioma


Input: Furthermore, participants without any treatment utilization regarding gambling behavior showed higher DRD2-gene methylation levels compared to treatment-seeking participants.

gambling


Input: Other cytokine-phenotype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion need; IL-2R, IL-8, and leukocytosis; IP-10 and thrombocytopenia; HGF, MIG, IL-1RA, and marked splenomegaly; and IL-1RA, IL-2R, IP-10, MIP-1β, and JAK2V617F.

splenomegaly


Input: EFEMP1, a recently discovered member of the fibulin family, was characterized with regard to these key elements of pancreatic cancer progression.

pancreatic cancer

pancreatic cancer


Input: Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1, 4-glucosidase (GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25. 2-q 25. 3).

GAA

Glycogen storage disease type II

GAA

Glycogen storage disease type II


Input: The hypoxia-mediated increased bio-available HSP32 and HSP72 and favourable alterations in glutathione redox, prior to exercise commencing in EXB2 compared to EXB1, may acquiesce the disturbances to redox balance encountered during the second physiologically identical exercise bout.

hypoxia


Input: [Acute kidney failure and hemolytic anemia caused by erythrocytic G6PD dificit revealed by chloroquine administration].

Acute kidney failure

Acute kidney failure


Input: These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.

CRF-BP

depression

CRF-BP

depression


Input: We have identified a novel reciprocal t (10; 17) (p11. 2; q23) in a case of low-grade myxoid fibrosarcoma, which may prove to be a new tumor specific chromosome aberration.

chromosome aberration


Input: We have also sequenced a selected material of 37 sporadic cases of more severe hypospadias for mutations in the androgen receptor AR, SRD5A2, and 17beta-hydroxysteroid dehydrogenase HSD17B3 genes and found only two previously described mutations, one in the AR and one in the SRD5A2 gene.

androgen receptor

sporadic


Input: The data presented here indicate that BH3 domain mutation of the proapoptotic genes Bad, Bmf and Bcl-G is rare in laryngeal squamous cell carcinoma and may not contribute to the apoptosis-resistance mechanisms of laryngeal squamous cell carcinoma.

Bcl-G

laryngeal squamous cell carcinoma


Input: Hyperekplexia (MIM: 149400), or startle disease, is an autosomal dominant neurological disorder characterized by an extreme generalized stiffness immediately after birth, normalizing during the first years of life.

MIM

neurological disorder


Input: Interestingly, while Hsp32 and Hsp70 expression was transient, Hsp25 demonstrated a sustained induction pattern, which may reflect an additional role of Hsp25 in subsequent remodeling events in the days following SE.

SE

SE


Input: QTL mapping together with previous genome-wide association study involving approximately 110, 000 gene-based SNPs in mild and severe beta (0)-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels.

mild


Input: The molecular basis for impaired hypoxia-induced VEGF expression in diabetic tissues.

VEGF

hypoxia


Input: Forced activation of Nrf2 by adenoviral over-expression of Nrf2 inhibited the increased ERK activity and recovered the blunted insulin sensitivity on glucose uptake in cardiomyocytes that were chronically treated with H (2) O (2).

insulin sensitivity


Input: To investigate blood apelin concentrations in patients with newly diagnosed and untreated type 2 diabetes mellitus (T2DM) who had no additional disorder and to investigate the association of apelin with adiponectin, body mass indexes (BMI) and insulin sensitivity.

apelin

insulin sensitivity


Input: Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in the Chinese population.

vitamin D receptor

hypocitraturia


Input: The majority of the up-regulated genes characterized were found to have an established or possible role in the innate defense against infections; these genes included the LPLUNC1, LF, VCC1, TCN1, CD55, SERPINA3, MMP1, MMP3, IL1B, LCN2, SOCS3, GDF15, SLPI, CXCL13, and MUC1 genes.

infections


Input: We revealed that overexpression of HEXIM1 prevented hypoxia-induced expression of HIF-1α protein and its target genes including VEGF in the cultured cardiac myocytes and fibroblasts, and that cardiomyocyte-specific HEXIM1 transgenic mice repressed RV myocardial angiogenesis in hypoxia-induced PH model.

VEGF

hypoxia


Input: Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD.

PCD

PCD


Input: Multiple risk factors for HCC have been identified, including cirrhosis, male gender, increasing patient age, toxins, chronic viral hepatitis, and other specific liver diseases.

HCC

liver diseases


Input: Females with at least one single A allele of TNF-α-308G > A had significantly high% BF and total skinfold, whereas higher values of waist hip ratio, total cholesterol, triglycerides and VLDL were observed in males.

TNF-α

waist hip ratio


Input: We investigated the potential role of RGS22 in human tumorigenesis.

tumorigenesis


Input: The research instruments used to phenotype patients were partly adopted from the US Collaborative Study on the Genetics of Alcoholism (COGA) which include anxiety-and depression-related scales from personality inventories such as the temperament and character inventory (TCI), the NEO-Five-Factor Inventory (NEO-FFI) and the Minnesota Multiphase Personality Inventory (MMPI-2).

TCI

anxiety


Input: MDA-7/IL-24 reduced MCL-1 and BCL-XL and increased BAX levels via PERK signaling; cell-killing was mediated via the intrinsic pathway, and cell killing was primarily necrotic as judged using Annexin V/propidium iodide staining.

BAX

necrotic


Input: The regulation of extracellular signal-regulated kinase (ERK) oscillations in the context of wound healing and carcinogenesis have been investigated in premalignant and malignant JB6 mouse epidermal cells stimulated with basic fibroblast growth factor (bFGF) and 12-O-tetradecanoyl phorbol-13-acetate (TPA).

TPA

premalignant


Input: Reduced early hypoxic/ischemic brain damage is associated with increased GLT-1 levels in mice expressing mutant (P301L) human tau.

hypoxic


Input: However, a G/T polymorphism predicting an Lys/Asn change (ET1/C198) strongly interacted (P < 0. 001) with body mass index in the determination of blood pressure levels.

blood pressure


Input: Rare mutations in the TREX1 gene, the major mammalian 3'-5' exonuclease, have been reported in sporadic SLE cases.

TREX1 gene

sporadic


Input: The data suggest that the inhibitory effect of CPT, a topoisomerase I inhibitor, on collagen synthesis may be an effective treatment for limiting fibrosis in keloid patients.

CPT

keloid


Input: Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.

adult-onset dystonia-parkinsonism

adult-onset dystonia-parkinsonism


Input: Classification tree analyses suggested the presence of subgroups of individuals defined by smoking and NER genotypes that could have substantial increases in risk.

NER

smoking


Input: Urinary biomarkers in hexachloro-1: 3-butadiene-induced acute kidney injury in the female Hanover Wistar rat; correlation of & #945;-glutathione S-transferase, albumin and kidney injury molecule-1 with histopathology and gene expression.

albumin

acute kidney injury

albumin

acute kidney injury


Input: We studied a mouse model of myelin oligodendrocyte glycoprotein-induced EAE treated with phenytoin or carbamazepine.

myelin oligodendrocyte glycoprotein

EAE

myelin oligodendrocyte glycoprotein

EAE


Input: The other diabetes susceptibility haplotype DQA1 * 0501-DQB1 * 0201 was less frequent in anti-TPO + patients.

TPO

diabetes


Input: In vivo studies with s. c. murine DBT glioblastoma tumors treated with transglutaminase 2 inhibitors combined with the chemotherapeutic agent, N-N'-bis (2-chloroethyl)-N-nitrosourea (BCNU), decreased tumor size based on weight by 50% compared with those treated with BCNU alone.

transglutaminase 2

glioblastoma

transglutaminase 2

glioblastoma


Input: Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

HRAS

Phacomatosis pigmentokeratotica

HRAS

Phacomatosis pigmentokeratotica


Input: Suppression of invasion in human U87 glioma cells by adenovirus-mediated co-transfer of TIMP-2 and PTEN gene.

glioma


Input: Decreased intestinal CYP3A and P-glycoprotein activities in rats with adjuvant arthritis.

P-glycoprotein

adjuvant arthritis

P-glycoprotein

adjuvant arthritis


Input: Indeed, we found that Ad-Delo3-RGD induced VEGF down regulation, which was even amplified under hypoxic conditions.

VEGF

hypoxic


Input: Crhr2-mutant mice are hypersensitive to stress and display increased anxiety-like behaviour.

anxiety

anxiety


Input: On the contrary, expression of a GAL4-BD-HSF1 chimeric protein responded to hemin treatment as well as to heat shock, and transiently overexpressed HSF1 caused hemin-responsive induction of the reporter gene in a dose-dependent manner.

shock


Input: Hypoxia (1% O (2)) or treatment with hypoxia-mimicking CoCl (2) enhanced RSUME and HIF-1α expression, induced translocation of HIF-1α to the nuclei and stimulated VEGF-A production both in pituitary tumour cell lines and primary human pituitary adenoma cell cultures.

VEGF-A

hypoxia


Input: Statistically significant odds ratios (ORs) of p16 hypermethylation were obtained from tumor tissues and non-tumorous liver tissues of HCC patients (OR 7. 04, 95% CI: 3. 87%-12. 78%, P < 0. 0001), tumor tissues of HCC patients and healthy liver tissues of patients with other diseases (OR 12. 17, 95% CI: 6. 64%-22. 31%, P < 0. 0001), tumor tissues of HCC patients and liver tissues of patients with non-tumorous liver diseases (OR 6. 82, 95% CI: 4. 31%-10. 79%, P < 0. 0001), and cirrhotic liver tissues and non-cirrhotic liver tissues (OR 4. 96, 95% CI: 1. 45%-16. 96%, P = 0. 01).

HCC

liver diseases


Input: There was higher risk to have the orofacial cleft in sons of mothers with CL or CLP or fathers with CL and daughters of mothers or fathers with CP.

CLP

orofacial cleft


Input: However, nothing is known as yet whether aberrant hypermethylation occurs already in non-neoplastic liver cells from patients with hereditary haemochromatosis who have a clearly elevated risk for developing HCC.

HCC

non-neoplastic


Input: Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1 + acute lymphoblastic leukemia: an interphase FISH analysis.

TEL

chromosome abnormalities


Input: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH.

PROP1 gene

pituitary hormone deficiency


Input: Treatment of CML mice with a 5-LO inhibitor also impaired the function of LSCs similarly by affecting LT-LSCs, and prolonged survival.

CML

CML


Input: The neural cell adhesion molecule (N-CAM) plays a significant role in the development of the nervous system.

neural cell adhesion molecule

nervous system


Input: Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.

keratin 16

pachyonychia congenita type 1

keratin 16

pachyonychia congenita type 1


Input: Cell culture studies found that conditioned medium from B16F10 melanoma cells increased ESAM expression in endothelial cells and promoted endothelial migration and tube formation.

ESAM

melanoma


Input: Twenty-four children with unexplained IUGR (birth weight <-1. 5 SD) and short stature (<-2. 0 SD) were screened for abnormalities of the IGF-IR gene.

IGF

birth weight


Input: Additionally, CsA reduced phosphorylation and activity of focal adhesion kinase that was associated with rapid morphological alterations, rearrangement of lamellipodia and impairment of MT1-MMP translocation to membrane protrusions.

focal adhesion kinase

translocation


Input: In unstable angina pectoris increased plasma IL-8 levels were evidenced in 25 of the 35 patients, after an average interval of 20 +/-1. 2 hours from the last spontaneous episode of angina pectoris.

unstable angina pectoris

unstable angina pectoris


Input: Immunohistochemistry and Western blotting consistently confirmed LSD1 overexpression in HCC tissues compared with adjacent non-neoplastic tissues (P < 0. 01).

HCC

non-neoplastic


Input: Changes in the expression of GLUTs and vascular endothelial growth factor (VEGF) during 12-, 18-, and 24 hours of severe hypoxia in vivo (xenografts) and in vitro (cell cultures) were recorded for both tumor lines.

VEGF

hypoxia


Input: We suspected that the patient had USS and performed assays of ADAMT13 activity and its inhibitor, followed by ADAMTS13 gene analysis of the patient and his parents.

USS

USS


Input: Different strategies have been followed for detection of these and other genomic changes in neuroblastoma including karyotyping, FISH, and LOH, each with its own limitations.

FISH

neuroblastoma


Input: Histology and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) revealed reduced microvessel density (MVD) and increased tumoral necrosis in 34. 5ENVE-treated tumor tissue compared to control OV-treated tumor tissue.

MVD

necrosis


Input: In summary, leptin treatment was not able to prevent the development of obesity and its associated abnormalities in transgenic mice with BAT deficiency.

BAT

abnormalities


Input: In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis.

SHOX

tall stature


Input: We observed that both GFI1 variants maintain the same activity as transcriptional repressors but differ in their regulation by the AML1/ETO (RUNX1/RUNX1T1) fusion protein produced in AML patients with a t (8; 21) translocation.

translocation


Input: Moreover, lisinopril and nifedipine appear to be capable of reducing bcl-2 concentrations, with potentially beneficial effects on vascular modifications in patients with hypertension.

hypertension

hypertension


Input: STOP (stable tubule only polypeptide) null mice display neurochemical and behavioral abnormalities that resemble several well-recognized features of schizophrenia.

STOP

schizophrenia

STOP

schizophrenia


Input: It has also been documented that higher levels of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas.

VEGF

hypoxia


Input: Treatment of FU-SY-1 SS with G3139 reduced Bcl-2 mRNA and protein levels, which enhanced doxorubicin-induced cell killing.

SS

SS


Input: In contrast to IL-1 alpha, IL-1 beta, TNF-alpha, and TGF-beta, the addition of IL-6 to hypoxic Hep3B cells resulted in a dose-dependent stimulation of hypoxia-induced Epo production by as much as 81%.

TGF-beta

hypoxia


Input: The phosphorylation status of VASP at serine 322 can be predictive for aggressiveness of invasive ductal carcinoma.

VASP

aggressiveness


Input: The current study examined the hypothesis that PPARγ attenuates hypoxia-induced endothelin-1 (ET-1) signaling to mediate these therapeutic effects.

PPARγ

hypoxia


Input: A defect in klotho gene expression in the mouse results in a syndrome that resembles human ageing, including a short lifespan, infertility, arteriosclerosis, skin atrophy, osteoporosis and emphysema.

klotho

infertility

klotho

infertility


Input: Downregulation of tumor suppressor QKI in gastric cancer and its implication in cancer prognosis.

QKI

gastric cancer


Input: Also, patients with CCR5 wtDelta32 heterozygosity showed a slow progression both to AIDS CDC 1993 and to a CD4 cell count < 200 cells/microL.

slow progression


Input: The bcl-2 proto-oncogene is centrally involved in the oncogenesis of human follicular lymphoma via a chromosomal translocation t (14; 18) (q32; q21) and is also expressed in the epithelial regenerative compartment or the basal crypts of the normal colon and small intestine.

chromosomal translocation


Input: By comparing the mRNA expressions of normal esophageal tissue and human esophageal epithelial cells (HEEpiC), we found that among the 28 cases of esophageal squamous cell carcinoma, PAR1 (60%) and PAR2 (71%) were elevated in 17 and 20 cases, respectively, and PAR4 (68%) expression was lowered in 19 cases.

esophageal


Input: The IGF-I transgene produced a marked brain overgrowth, and significantly accelerated tumor development, increasing the frequency of pre-neoplastic lesions as well as full medulloblastomas in Ptc1 +/-/IGF-I Tg mice.

IGF-I

overgrowth


Input: Several further manifestations are associated with B19 infections, such as arthralgias, arthritis, leucopenia and thrombocytopenia, anaemia and vasculitis and spontaneous abortion and hydrops fetalis in pregnant women.

leucopenia


Input: We have previously reported an overexpression of Smad1 in follicular lymphoma (FL) cells, which are characterized by the t (14; 18) bcl2/IgH translocation.

follicular lymphoma


Input: We conclude that BAL cells, especially alveolar macrophages, are activated in the alveolar inflammation of active TB and spontaneously release increased quantities of IL-1 beta, IL-6, and TNF-alpha, and that these cytokines are likely to be involved in directing granuloma formation and control of M. tuberculosis infection.

tuberculosis infection


Input: TNF-alpha induced an early upregulation of ADAM17 in T84 cells, whereas PMNL adhesion, H (2) O (2), or epithelial tight junction opening alone did not affect the amount of ADAM17.

adhesion


Input: Von Hippel-Lindau (VHL) disease is a heritable tumor susceptibility syndrome caused by germline mutations in the VHL gene.

VHL

VHL

VHL

VHL


Input: Due to the lack of hypoxia effects on MME expression in NSCLC cell lines in contrast to carcinoma-associated fibroblasts, a direct up-regulation of stroma fibroblast MME expression under hypoxia might contribute to enhanced aggressiveness of hypoxic cancers.

MME

aggressiveness


Input: Our aim was to evaluate the potential utility of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) to detect hemochromatosis.

MCH

mean corpuscular volume


Input: Local expression of ACE, AT1R and AT2R was investigated immunohistochemically in non-lesional tissue, primary tumors and lymph node metastases from 45 gastric cancer patients.

metastases

metastases


Input: The fat mass and obesity associated gene (FTO) polymorphisms have been implicated in the susceptibility of overweight/obesity in children and adolescents.

FTO

overweight


Input: In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions.

CTSK gene

bone density


Input: Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene-VHL, EGLN1, EPAS1.

EPO gene

hemoglobin


Input: Exacerbating this, the PAK1 (-/-) knock-out mice also exhibited peripheral insulin resistance.

insulin resistance


Input: We have aimed to demonstrate the impact of TGF-β1 and fluvastatin on human breast cancer (MCF-7) and human hepatocellular carcinoma (Hep3B) cell cultures via Real-Time Cell Analyzer (RTCA) and to test the expression levels of some genes (NDRG1, SGK1, TWIST1, AMPKA2) and to compare their gene expression levels according to RTCA results.

RTCA

hepatocellular carcinoma


Input: Our results demonstrate that the recently identified exosome-associated protein C1D is a major autoantigen in patients with the PM-scleroderma overlap syndrome and suggest that the use of recombinant C1D as an autoantibody target may aid in diagnosis of the PM-scleroderma overlap syndrome.

overlap syndrome


Input: The purpose of this study was to examine the biological significance of GNG2 in human malignant melanoma cells.

malignant melanoma


Input: The clinical relevance of these findings was verified in a study of 152 lupus patients, in which we showed that lupus nTreg dysfunction is not due to intrinsic defects but is rather induced by C3b stimulation of CD46 and IFN-α and that these immune components of inflammation are directly associated with active lupus.

inflammation


Input: The cognitive function, serum ApoE, and peripheral mononuclear blood cell ApoE mRNA expression of patients with PSD were compared to age-matched control patients with stroke and healthy volunteers.

PSD

stroke


Input: Terminal NK cell maturation is controlled by concerted actions of T-bet and Zeb2 and is essential for melanoma rejection.

T-bet

melanoma


Input: The DNA polB expression was found in 8 of 10 HPV16-positive cervical intraepithelial neoplasia grade III (CIN III) cases, while was only found in 3 of 11 HPV6-positive condyloma accuminatum cases, but was negative in all chronic cervicitis cases.

polB

chronic cervicitis


Input: Of note, connecting genes in a single pathway (leukotriene), of a protein and its ligand (LTAalpha) or from one disease to another [age-related macular degeneration (AMD); complement factor H (CFH)], or even three disease characterized by inflammation (MHC2) have now been reported.

CFH

inflammation


Input: Only prolonged inhibition of HER3 and EGFR, achievable by dual blockade with trastuzumab and lapatinib or irreversible HER2 inhibition by single-agent afatinib, led to regression of HER2-amplified gastrointestinal carcinomas.

EGFR

regression


Input: Abnormalities of PSD95-like molecules and other intracellular signaling machinery may contribute to dysregulated communication between multiple neurotransmitter systems (such as glutamatergic and dopaminergic systems) that are potentially involved in the neurobiology of schizophrenia and affective disorders.

affective disorders

affective disorders


Input: Morpholino-oligonucleotide-mediated knockdown of unc45b results in paralysis and cardiac dysfunction.

paralysis

paralysis


Input: Dysferlin-deficient cells show abnormalities in vesicular traffic and membrane repair although onset of symptoms is not commonly seen until the late teenage years and is often associated with subacute onset and marked muscle inflammation.

Dysferlin

abnormalities


Input: The attenuation effect of sevoflurane on hypoxia-induced VEGF level could be blocked by 5-Aza.

VEGF

hypoxia


Input: Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses).

MIM

exostoses


Input: These results suggest that Pro358Leu in EPO is strongly involved in the development of cedar pollinosis.

EPO

pollinosis


Input: Peroxiredoxin-2 protects against 6-hydroxydopamine-induced dopaminergic neurodegeneration via attenuation of the apoptosis signal-regulating kinase (ASK1) signaling cascade.

neurodegeneration


Input: In other experiments, overexpression of ENC1 in HT-29 colon cancer cells suppressed the usual increase of two differentiation markers, in response to treatment with sodium butyrate, a differentiation-inducible agent.

colon cancer


Input: Colon cancers with defective DNA mismatch repair (MMR) have peculiar molecular, pathologic, and clinical features, including high-level microsatellite instability, conspicuous lymphocytic infiltration, preferential location in the proximal colon, and better prognosis.

MMR

microsatellite instability


Input: In pemphigus vulgaris (PV) and pemphigus foliaceus (PF), most of the autoantibodies are directed against the extracellular domains of desmoglein 1 (Dsg1) or Dsg3, and those antibodies are proved to play a pathogenic role in blister formation in the skin and mucous membranes.

blister


Input: Trx-1 transfection also caused a significant increase in the protein products of hypoxia-responsive genes, including vascular endothelial growth factor (VEGF) and nitric oxide synthase 2 in a number of different cell lines (MCF-7 human breast and HT29 human colon carcinomas and WEHI7. 2 mouse lymphoma cells) under both normoxic and hypoxic conditions.

VEGF

hypoxic


Input: The NOD2 genotype was not correlated with growth retardation or growth failure.

growth retardation


Input: In this study, we investigated the interaction of the MDM2 SNP285 and 309 in a large series of 195 LFS patients.

LFS

LFS


Input: The role of GLP-1 R variants on body weight response after dietary intervention is unclear.

body weight


Input: Silibinin inhibits hypoxia-inducible factor-1alpha and mTOR/p70S6K/4E-BP1 signalling pathway in human cervical and hepatoma cancer cells: implications for anticancer therapy.

hepatoma


Input: Obesity in a model of gpx4 haploinsufficiency uncovers a causal role for lipid-derived aldehydes in human metabolic disease and cardiomyopathy.

cardiomyopathy


Input: Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.

Obese

Obese


Input: The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P = 0. 025; P = 0. 047, respectively).

BD

BD


Input: A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

holocarboxylase synthetase

holocarboxylase synthetase deficiency

holocarboxylase synthetase

holocarboxylase synthetase deficiency


Input: [A new enzymopenic hemolytic anemia with glutathione reductase deficiency].

glutathione reductase

hemolytic anemia

glutathione reductase

hemolytic anemia


Input: The chromosome break points of the t (8; 21) (q21. 3; q22. 12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein.

translocation


Input: Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

autism spectrum disorders

autism spectrum disorders


Input: In this report, we describe a mutational analysis of IkappaBalpha for primary tumor cells obtained from patients with a variety of hematologic malignancies (acute myelogenous leukemia, chronic myelogenous leukemia, myelodysplastic syndrome, hairy cell leukemia, adult T-cell leukemia, and mantle cell lymphoma) as well as 15 leukemia, lymphoma, and myeloma cell lines (HL60, U937, HEL, K562, NALM1, Jurkat, JM, MOLT4, Raji, KS1, OKM2T, OKM3T, F6T, Su9T01, and C2-2).

IkappaBalpha

hairy cell leukemia


Input: Cells cultured from these adenoma were subject to computerized real time intracellular Ca2 + i imaging at a single cell level.

adenoma


Input: A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Synaptophysin (SYN) consistently declines with age and is further reduced with sporadic AD.

SYN

sporadic


Input: Our ChIP results showed that hypoxia-induced HepG2 and Hep3B cell proliferation is mediated by JMJD1A upregulation and subsequent decrease in methylation in the ADM promoter region.

ADM

hypoxia


Input: Foxa2 regulates a complex pulmonary program of epithelial cell maturation required for transition to air breathing at birth.

breathing


Input: However, overexpression of individual miRNAs from this locus, miR-19a or miR-92a, results in B-cell hyperplasia and erythroleukemia, respectively.

hyperplasia


Input: Logistic regression, log-rank testing, and multivariable Cox regression were used to investigate the association between (18) F-FDG uptake and tumor response and survival.

FDG

regression


Input: Severe deficiency of glucocerebrosidase caused by severe mutations is additionally associated with neurological manifestations in the less common type 2 and type 3 GD subtypes.

glucocerebrosidase

neurological manifestations


Input: Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended.

generalized hypotonia


Input: Toxicity of these two prodrugs was evaluated in culture in parental and genetically modified rodent (9L) and human (U87) glioma cell lines stably expressing CYP4B1, and in vivo in a subcutaneous 9L tumor model in nude mice.

glioma


Input: In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders.

LMNA

progeria

LMNA

progeria


Input: Navajo microvillous inclusion disease is due to a mutation in MYO5B.

microvillous inclusion disease

microvillous inclusion disease


Input: Ca2 + toxicity due to reverse Na +/Ca2 + exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1. 7 mutation.

neuropathy


Input: We investigated whether these proteins also accumulate at an early stage of neuropathogenesis in young DS individuals without neuropathology and in early-onset familial forms of AD (FAD), as well as in other tauopathies, such as Pick disease (PiD) or progressive supranuclear palsy (PSP).

FAD

tauopathies


Input: Deficient mismatch repair (dMMR) function manifests as immunohistochemically detectable absence of one or more MMR proteins and microsatellite instability (MSI).

MMR

microsatellite instability


Input: Comparison of clinico-biological characteristics of patients with and without thrombosis revealed in the former group higher median white blood cell (WBC) count (17 x 10 (9)/l, range 1. 2-56, P = 0. 002), prevalence of the bcr3 transcript type (72 vs 48%, P = 0. 01), of FLT3-ITD (64 vs 28%, P = 0. 02), CD2 (P = 0. 0001) and CD15 (P = 0. 01) expression.

thrombosis

thrombosis


Input: Cx43, but not Cx32, suppressed C6 glioma cell growth.

glioma


Input: In Tg-SPF mice, the tumor score was higher than in Tg-GF mice (p < 0. 01), but no colorectal tumors were detected in non-Tg groups of SPF, and the tumor incidence was remarkably low in non-Tg-GB-4 mice.

SPF

colorectal tumors


Input: DENN/MADD, a multifunctional domain protein expressed in neurons, interacts with both the p55 TNF receptor (TNFR) type 1 and JNK3, placing it at a critical juncture in regulating signaling of neurodegeneration.

DENN

neurodegeneration


Input: Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis.

UTR

secondary


Input: Recipients with renal diseases with potential to recur (membranous glomerulonephritis (MGN), membrano-proliferative glomerulonephritis (MPGN), focal and segmental glomerulonephritis (FSGN), polyarteritis nodosa (PAN), rapid progressive glomerulonephritis (RPGN), Henoch-Schoenlein purpura (HSP), diabetes mellitus (DM), interstitial nephritis, systemic lupus erythematosus (SLE) and chronic glomerulonephritis (CGN)) faired worse as a group than recipients with hypertensive nephrosclerosis (HTN), autosomal dominant polycystic kidney disease (ADPKD), Alport' s, reflux or congenital dysplasia (68 vs. 96% at 10 yr, p = 0. 0009).

CGN

diabetes mellitus


Input: Erbb2 alters the expression of regulatory genes controlling inflammation, angiogenesis, cell division, apoptosis, cell adhesion, and migration following UV irradiation.

inflammation


Input: Mutation of the p51/p63 gene is associated with blastic crisis in chronic myelogenous leukemia.

chronic myelogenous leukemia


Input: In the absence of colitis, anxiety-like behaviour was increased by deletion of NPY but not PYY in a test-and sex-dependent manner, while depression-like behaviour was enhanced in NPY (-/-) and PYY (-/-) mice of either sex.

PYY

colitis


Input: Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.

PLP

Pelizaeus-Merzbacher disease

PLP

Pelizaeus-Merzbacher disease


Input: Conversely, FGFR2-IIIb expression in epithelial cells yielded higher FGF4/FGF7 expression that, in the presence of FGFR2-IIIc-expressing fibroblasts, enhanced tumor progression.

tumor progression


Input: Together, these findings consistently indicate that PPAR-beta may facilitate differentiation and inhibit the cell-fibronectin adhesion of colon cancer, having a role as an inhibitor in the carcinogenesis and progression of colorectal cancer.

PPAR-beta

adhesion


Input: Several mRNAs, such as those encoding guanine nucleotide-binding protein Gs (alpha subunit), leukocyte adhesion protein (LFA1-beta), nuclear factor NF45, homeobox protein Hox-A1, and beta-catenin were detected in increased levels in cervical cancer.

cervical cancer


Input: Neutrophil numbers increased in all but two patients and in an extended urine cytokine/chemokine analysis (31 proteins), the chemoattractants IL-8 and GRO-α, RANTES, Eotaxin-1 and MCP-1, the T cell chemoattractant and antibacterial peptide IP-10, inflammatory regulators IL-1-α and sIL-1RA and the T lymphocyte/dendritic cell product sIL-2Rα were detected and variably increased, compared to sterile samples.

sterile


Input: Sixty eight colorectal cancers (22 RER + sporadic cancers, 32 RER-sporadic cancers and 14 ulcerative colitis associated cancers) were studied using immunohistochemistry and for allele loss at the HSECAD locus.

RER

ulcerative colitis


Input: Here we have investigated the effect of nine PDS missense mutations on pendrin localization and iodide transport with the view to understanding their functional impact.

pendrin

PDS

pendrin

PDS


Input: In the muscle of patients with HTLV-I-associated myopathy, the predominant endomysial cells surrounding healthy muscle fibers were CD8 + cells followed by CD4 + cells and macrophages.

myopathy


Input: The anti or pro-atherogenic role of hepatic lipase is likely to be modulated by the concurrent presence of other lipid abnormalities (i. e.

hepatic lipase

abnormalities


Input: In severe dengue fever (DF), the levels of DENV non-structural-1 protein and of the products of complement activation, including C3a, C5a and SC5b-9, are higher before vascular leakage occurs, supporting the hypothesis that complement activation contributes to unfavourable outcomes.

severe dengue


Input: ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

thoracic aortic aneurysm

thoracic aortic aneurysm


Input: In HCC cells, starvation also activated the phosphatidylinositol 3-kinase (PI3K)/AKT pathway, which blocks the translocation of DRAM to mitochondria through the binding of p-AKT to DRAM in the cytoplasm.

AKT

translocation


Input: Serum fasting plasma glucose, postprandial plasma glucose, glycated haemoglobin (HbA (1c)), fasting serum insulin, postprandial serum insulin (PINS), triglycerol (TG), cholesterol, homeostasis model assessment for insulin resistance, leptin and adiponectin in all T2DM patients were determined before and after rosiglitazone treatment.

PINS

insulin resistance


Input: Patients were tested for HER2 status (IHC score of 3 + or FISH ratio of ≥ 2. 2) by immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), DNA copy number, mRNA expression, and mutation status in patients with metastatic urothelial carcinoma (UC), and its impact on survival.

FISH

metastatic urothelial carcinoma


Input: Homozygous Megf7-deficient mice are growth-retarded, with fully penetrant polysyndactyly in their fore and hind limbs, and partially penetrant abnormalities of tooth development.

polysyndactyly

polysyndactyly


Input: In models that adjusted for traditional CVD risk factors and medication use, we generally found no association between reports of r/e discrimination and aortic wall thickness, aortic plaque area, prevalent CAC, or elevated CRP in any of the r/e groups.

CAC

plaque


Input: The behavioral phenotype of pituitary adenylate-cyclase activating polypeptide-deficient mice in anxiety and depression tests is accompanied by blunted c-Fos expression in the bed nucleus of the stria terminalis, central projecting Edinger-Westphal nucleus, ventral lateral septum, and dorsal raphe nucleus.

pituitary adenylate-cyclase activating polypeptide

depression

pituitary adenylate-cyclase activating polypeptide

depression


Input: Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

leber congenital amaurosis

leber congenital amaurosis


Input: These results provide direct evidence that STAT3 transduces not only a hypertrophic signal but also a protective signal against Dox-induced cardiomyopathy by inhibiting reduction of cardiac contractile genes and inducing cardiac protective factors.

cardiomyopathy

cardiomyopathy


Input: Of all the inhibitors tested, we found that Marimastat not only inhibits the expression of MMP14 in U87 and U251 glioma cells, but also induces cell cycle arrest.

glioma


Input: Little is known about the impact of severity of hypertension on the association of genes with high blood pressure, which may cause the inconsistently reported associations of peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha) gene with blood pressure.

blood pressure


Input: Of 2, 308 MRISC participants, breast cancer was detected in 93 (97 breast cancers), who received MRI < 2 years before breast cancer diagnosis; 33 BRCA1 mutation carriers, 18 BRCA2 mutation carriers, and 42 with familial risk.

MRI

breast cancer diagnosis


Input: The results lend some support for an influence of the studied polymorphisms on the susceptibility for autism, but argue against the possibility that mutations in the AR gene are common in subjects with this condition.

AR

autism

AR

autism


Input: To test the effect of AhR activation on metastasis, 4T1. 2 mammary tumor cells were injected into the mammary gland fat pad of syngeneic Balb/c mice treated with 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin (TCDD).

AhR

metastasis

AhR

metastasis


Input: We also report the characterisation of five new microsatellite markers and one SNP in the EPM2A gene and describe the haplotypic associations of alleles at these sites in normal and EPM2A chromosomes.


Input: Epigenetic induction of epithelial to mesenchymal transition by LCN2 mediates metastasis and tumorigenesis, which is abrogated by NF-κB inhibitor BRM270 in a xenograft model of lung adenocarcinoma.

tumorigenesis


Input: A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.

androgen receptor

partial androgen insensitivity syndrome

androgen receptor

partial androgen insensitivity syndrome


Input: Overall, based on the synthesis of observational studies, the evidence for an association between F12-4C > T and venous thromboembolism and myocardial infarction is weak.

myocardial infarction


Input: HDV subverts the effect of IFN-alpha by blocking Tyk2 activation, thereby resulting in selective impairment of activation and translocation to the nucleus of STAT1 and STAT2.

translocation


Input: We describe a molecularly confirmed case of pontocerebellar hypoplasia type 4, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, hypertonia, and early neonatal death.

pontocerebellar hypoplasia type 4

pontocerebellar hypoplasia type 4


Input: We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c. 200G & gt; A; p. G67X).

SMS

Snyder-Robinson syndrome

SMS

Snyder-Robinson syndrome


Input: The frequency of heterozygous ALDH2 * 1/* 2 plus homozygous ALDH2 * 2/* 2 in cases was significantly lower than that in exposed controls (27. 8% vs 43. 4%, P = 0. 011), and it decreased the risk of TCE-induced medicamentosa-like dermatitis (OR = 0. 50, 95% CI = 0. 29-0. 85).

dermatitis


Input: We previously showed that lower levels of SPARC were associated with therapy-refractory colorectal cancers (CRC), and that upregulating its expression enhances chemo-sensitivity resulting in greater tumour regression in vivo.

SPARC

regression


Input: Synovial sarcomas account for up to 10% of all soft tissue sarcomas and are characterized by a specific chromosomal abnormality, t (X; 18) (p11. 2; q11. 2), that is observed in both monophasic and biphasic variants.

chromosomal abnormality


Input: By using confocal microscopic analysis, Western Blot, TransAM NF-κB ELISA, and chromatin immunoprecipitation (ChIP), we observed that NF-κB p65, p52, and c-Rel were activated in macrophages in patients with hypersplenism (hypersplenic macrophages).

NF-κB

hypersplenism


Input: Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

Multiple synostoses syndrome

Multiple synostoses syndrome


Input: Patients were genotyped for 19 haplotype-tagging single nucleotide polymorphisms (htSNPs) in SRD5A1 and SRD5A2 genes, and their prognostic significance on prostate-specific antigen recurrence was assessed using Kaplan-Meier analysis and the Cox regression model.

regression


Input: Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)).

MIM

histiocytosis


Input: Vascular endothelial growth factor (VEGF) prolongs survival in the mutant SOD1 transgenic mouse model of amyotrophic lateral sclerosis (ALS), whereas dysregulation of VEGF through deletion of its hypoxia-regulatory element causes motor neuron degeneration in mice.

VEGF

hypoxia


Input: Increased rates of chromosome breakage in BRCA1 carriers are normalized by oral selenium supplementation.

chromosome breakage

chromosome breakage


Input: In apolipoprotein B transgenic mice, phospholipid transfer protein deficiency enhances reactive oxygen species-dependent degradation of newly synthesized apolipoprotein B via a post-endoplasmic reticulum process, as well as improving the antiinflammatory properties of HDL in mice.

apolipoprotein B

protein deficiency


Input: To better understand carnitine palmitoyltransferase 1a (liver isoform, gene = Cpt-1a, protein = CPT-1a) deficiency in human disease, we developed a gene knockout mouse model.

carnitine palmitoyltransferase 1a (liver

CPT-1a) deficiency

carnitine palmitoyltransferase 1a (liver

CPT-1a) deficiency


Input: It is concluded that analysis of telomere length by flow-FISH manifests the significance for monitoring disease conditions, estimating prognosis and guiding therapy in all kinds of leukemia.

FISH

leukemia


Input: To address the role of fbw7 in intestinal homeostasis and tumorigenesis, we generated conditional knock-out mice lacking fbw7 in the intestine and evaluated the effect of fbw7 absence in normal intestinal homeostasis and in adenomatous polyposis coli-mediated tumorigenesis.

tumorigenesis


Input: The factors that determine whether magnesium deficiency will result in inhibition of PTH release, in a lack of response of the bone to endogenous and exogenous PTH, or both, remain to be clarified.

PTH

magnesium deficiency


Input: We identified two novel mutations in FUS in two out of 99 (2. 0%) sporadic ALS patients and established the de novo occurrence of one FUS mutation.

FUS

sporadic


Input: Cells in culture stably expressing a dominant-negative MLH3 protein exhibit microsatellite instability.

microsatellite instability


Input: We confirmed specific deregulation of Fmn2, Arntl2, Bfsp2, Gfra2, Gpm6a, and Gpm6b in B leukemia, of Nln, Fbln1, and Bmp7 in T leukemias, and of Etv5 in both leukemias.

leukemias


Input: We sought to study the relationship of Rgs2 expression level to depression and anxiety-like behavioural features, sociability and brain 5-HT1A and 5-HT1B receptor expression.

depression

depression


Input: Overexpression of RGS5 resulted in significantly lower adhesion and migration abilities of the lung cancer cells (P < 0. 01).

adhesion


Input: We studied cytokine gene polymorphisms in the promoter region, including interleukin (IL)-6, IL-1beta, and IL-10, in Japanese patients with human T-cell leukemia virus type I (HTLV-I) associated myelopathy (HAM) (n = 65), asymptomatic HTLV-I carriers (n = 143), and HTLV-I seronegative, normal controls (n = 160).

asymptomatic


Input: Mild glucose intolerance develops in RIP-FRK male mice of at least 4 mo of age.

FRK

glucose intolerance

FRK

glucose intolerance


Input: Taken together, our results indicate an accumulation of autophagic and lysosomal markers in human brain tissue from patients with primary tauopathies (CBD and PSP) as well as FAD, suggesting a defect of the autophagosome-lysosome pathway that may contribute to the development of tau pathology.

FAD

tauopathies


Input: Importantly, we showed that both small interfering RNA (siRNA)-mediated CDC25A down-regulation and a recently developed CDC25 pharmacologic inhibitor impaired this adhesion-dependent proliferation, establishing a functional link between CDC25A accumulation and adhesion-dependent proliferation in leukemic cells.

adhesion


Input: Thus, KS-WNK1 is a negative regulator of NCC and NKCC2 in vivo and plays an important role in the control of Na (+) homeostasis and blood pressure.

NCC

blood pressure


Input: Here we show that Pirt regulates the function of TRPM8 and its role in detecting cold.

cold


Input: GSK-3β-induced ASK1 stabilization is crucial in LPS-induced endotoxin shock.

shock


Input: The t (14; 18) translocation results in a fusion transcript containing the entire bcl-2 coding sequence with a 3' breakpoint fused to the immunoglobulin J (H) region and the c mu heavy chain.

translocation


Input: To examine whether gastric serrated adenoma shares the same immunophenotypic and molecular features of its colorectal traditional serrated adenoma, the clinicopathologic features, expression of mucin proteins (MUC2, MUC5AC, CD10, MUC6) and mismatch repair protein (MLH1), and mutations of BRAF and KRAS genes were studied.

colorectal traditional serrated adenoma


Input: Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A.

RET proto-oncogene

multiple endocrine neoplasia type 2A

RET proto-oncogene

multiple endocrine neoplasia type 2A


Input: Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA.

DBA

DBA


Input: Statistical analysis revealed no significant association between PRNP * 129Val and MS (P = 0. 76), MCI (P = 0. 46), alcoholism (P = 0. 84) and schizophrenia (P = 0. 69).

MCI

schizophrenia


Input: Herein, we investigated the ability of TGP to modulate JAK2/STAT3 activation and macrophage proliferation in rats with streptozotocin (STZ)-induced diabetes.

TGP

diabetes


Input: Our study is the first direct evidence that PIK3CA is an oncogene in ovarian cancer and greatly extends recent findings in breast cancer.

ovarian cancer

ovarian cancer


Input: Astrocyte elevated gene-1 (AEG-1) is associated with tumorigenesis and progression in various types of human cancers.

tumorigenesis


Input: It is known that tumor hypoxic cells produce histone deacetylase-1 (HDAC-1), which up-regulates hypoxia-inducible factor-1alpha (HIF-1alpha) and down-regulates von Hippel-Lindau (VHL) protein by up-regulating vascular endothelial growth factor (VEGF) expression.

VEGF

hypoxic


Input: STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.

BD

BD


Input: Mutations of the breast cancer susceptibility gene 1 (BRCA1), a tumor suppressor, confer an increased risk for breast, ovarian, and prostate cancers.

tumor

tumor


Input: Next, we investigated the effects of hypoxia on the expression levels of stem cell factors, Oct4, Nanog, Sox2 and Lin28, and showed that their expressions were induced by hypoxia.

hypoxia


Input: To investigate the association of apolipoprotein (APO) E4 and hypercholesterolemia in children, we studied the APOE phenotypes of 51 school-age children with hypercholesterolemia and of 51 age, sex and obesity index-matched controls with normocholesterolemia by two-dimensional gel electrophoresis APOE4 was present in 21 of 51 hypercholesterolemic children (41. 2%), and in nine of 51 control subjects (17. 6%).

APO

obesity


Input: A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

PIGW

glycosylphosphatidylinositol deficiency

PIGW

glycosylphosphatidylinositol deficiency


Input: Urinary gamma-glutamyltransferase (GGT) as a potential marker of bone resorption.

GGT

bone resorption


Input: Together, these new and exciting findings encourage the future exploration into the function of Pak1 in the nervous system, thus, paving the way for novel strategies towards improved diagnosis and therapeutic treatment of diseases that affect the CNS.

nervous system


Input: By day 21, there was also a reduction in iNOS mRNA and iNOS + cells in granulomas in mice infected with BCG-IFN compared with infection with BCG-plasmid, and a similar reduction in both total number of granulomas and liver hydroxyproline content.

IFN

granulomas


Input: Taken together, these results suggest that the involvement of HIF-1 in uveal melanoma tumorigenesis is significant and complex, and that metabolic regulation of HIF-1 activation in Mum2B uveal melanoma cells has its specificities.

tumorigenesis


Input: EGFR-M + prevalence was 11% and higher (20%) among never-smoking women with adenocarcinomas (ADCs), but 30% of mutations occurred in current/ex-smoking men.

EGFR

smoking


Input: In contrast, levels of IL-6 were not altered in asymptomatic subjects carrying the PGRN mutations.

asymptomatic


Input: This was confirmed by that 6-OH-BDE-47 significantly down regulated the expression of epithelial markers E-cadherin (E-Cad) and zona occludin-1 (ZO-1) while up regulated the mesenchymal markers vimentin (Vim) and N-cadherin (N-Cad).

occludin

zona


Input: The dopamine D3 receptor gene is of potential interest in the physiopathology of affective disorder because of its expression pattern in brain structures controlling various aspects of behaviour, cognition and emotions.

dopamine D3 receptor

affective disorder

dopamine D3 receptor

affective disorder


Input: Because examination of MIF production in children with active disease does not account for the inherent ability of the host to generate MIF, basal circulating MIF and peripheral blood mononuclear cell (PBMC) MIF transcript levels were determined in healthy children with a history of either mild or severe malaria.

MIF

mild


Input: We report a case of cerebral sinus thrombosis as a recurrent thrombotic event in a patient with heterozygous prothrombin G20210A genotype after discontinuation of oral anticoagulation therapy.

prothrombin

thrombotic

prothrombin

thrombotic


Input: Mismatch repair (MMR) deficiency and microsatellite instability (MSI) are associated with cisplatin resistance in human germ cell tumors (GCTs).

MMR

microsatellite instability


Input: We conclude that homozygous mutations in LPIN2 result in Majeed syndrome.

Majeed syndrome

Majeed syndrome


Input: Inhibiting ERK1/2 with PD98059 or treatment with siRNA directed against either NF-κB p65 or Nox4 attenuated hypoxic reductions in PPARγ expression and activity.

PPARγ

hypoxic


Input: In homozygous knockout (KO) mice, Nbea deficiency causes perinatal death.

Nbea

perinatal death


Input: Sequencing of exon 10 from two boys with XLA demonstrated a novel point mutation in the SH2 domain of BTK.

BTK

XLA

BTK

XLA


Input: This study also established that SNP in intron 1 of FTO (rs17817449) are strongly associated with several measures of adiposity and are also associated with plasma insulin, insulin resistance, percentage body fat and fat mass.

FTO

insulin resistance


Input: IGF2BP2 and SLC30A8 SNPs were not associated with insulin secretion but were with insulin sensitivity and glucose tolerance (0. 002 < or = P < or = 0. 02).

insulin sensitivity


Input: Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

cerulean cataract

cerulean cataract


Input: Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.

major depression

major depression


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

secondary


Input: Patients with chronic inflammation or inflammation-associated cancer display microsatellite instability (MSI), indicating a possible MMR inactivation.

MMR

microsatellite instability


Input: In contrast, hypoxia had no effect on DR4, DR5, or DcR1 protein levels.

hypoxia


Input: Increased binding of Sp1 to the VPF/VEGF promoter has been observed when the cells were exposed to hypoxia.

VEGF

hypoxia


Input: To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.

PIGO

seizures


Input: In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c. 317T > G (p. L106R), c. G139C (p. D47H), and c. C257A (p. S86Y).

GJA1 gene

sporadic


Input: Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.

carbohydrate-deficient glycoprotein syndrome type II

carbohydrate-deficient glycoprotein syndrome type II


Input: We then screened all 210 tumors for mutations at candidate loci other than APC (K-ras, beta-catenin, and allelic loss at 1p33-p35 and 1p36) and for microsatellite instability (MSI).

microsatellite instability


Input: Interleukin-1 receptor antagonist (IL-1ra 0. 1 microgram) reduced the development of SP-induced hyperalgesia up to 4 h after administration, but did not reverse an established hyperalgesia.

Interleukin-1 receptor antagonist

hyperalgesia

Interleukin-1 receptor antagonist

hyperalgesia


Input: Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

X-linked sideroblastic anemia

X-linked sideroblastic anemia


Input: We hypothesized that: 1) macrophage accumulation and cardiac fibrosis in SR-uPA +/o mice are dependent on localization of uPA by the uPA receptor (uPAR); 2) activation of plasminogen by uPA and subsequent activation of transforming growth factor-beta1 (TGF-beta1) and matrix metalloproteinase (MMP)-2 and-9 by plasmin are critical pathways through which uPA-expressing macrophages accumulate in the heart and cause fibrosis; and 3) uPA-induced cardiac fibrosis can be attenuated by treatment with verapamil.

uPA receptor

fibrosis


Input: Due to the complexity of the gene, the role of each p63 isotype in tumorigenesis is still confusing.

tumorigenesis


Input: Innate immune system abnormalities, e. g., mannan-binding lectin (MBL) genotype variants, have been demonstrated to modify the disease course of rheumatoid arthritis (RA).

MBL

abnormalities


Input: In a family with clinical evidence of hereditary chronic pancreatitis, a missense mutation of codon 22 (GAC--& gt; GGC) of the cationic trypsinogen was found.

cationic trypsinogen

hereditary chronic pancreatitis

cationic trypsinogen

hereditary chronic pancreatitis


Input: Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.

Epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex with mottled pigmentation


Input: To study the effect of exogenous wild-type p53 on glioma cell growth, human glioma lines U251 MG, U87 MG and A172 were infected with an adenovirus vector expressing either wild-type p53 or bacterial lacZ.

glioma


Input: We concluded that there is a higher expression of ERM/ETV5 in early stages of EEC, whereas there seems to be a RUNX1/AML1 translocation from cytoplasm to nucleus in EEC neoplastic transformation.

translocation


Input: It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR.

NTN

malformation


Input: Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia.

SMDK

SMDK


Input: To detect adenocarcinoma cells in the circulating peripheral blood, we " analyzed the presence of carcinoembryonic antigen (CEA) mRNA in the peripheral blood obtained from patients with pancreatic carcinoma (PC) or with gastric carcinoma (GC) and also, as controls, from pancreatitis or gastritis patients without carcinomas, a gastric lymphoma patient and four healthy volunteers.

CEA

gastritis


Input: We also evaluated cytokines and chemokines production as parameters of severity of inflammation in the spinal cord of Wt versus GMF-KO mice with and without GMF-reconstitution following MOG-immunizations.

MOG

inflammation


Input: Rab1 also co-localised extensively with mutant TDP-43, FUS and SOD1 in neuronal cells, and Rab1 formed inclusions in motor neurons of spinal cords from sporadic ALS patients, which were positive for ubiquitinated TDP-43, implying that Rab1 is misfolded and dysfunctional in sporadic disease.

FUS

sporadic


Input: It has been previously suggested that t (14; 18) translocation of bcl-2 to the immuno-globulin heavy chain (IgH) locus may contribute to pathogenesis of lymphoproliferative disorders related to hepatitis C virus (HCV) infection, including type II mixed cryoglobulinemia (MC).

translocation


Input: Molecular genetic assays for the detection of the JAK2 V617F (c. 1849G > T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm.

MPL

erythrocytosis


Input: Consistent with these findings, apoE-/-mice that are also deficient for P-selectin show significantly reduced atherosclerotic lesion sizes and are almost completely protected from neointimal growth after vascular injury.

P-selectin

atherosclerotic lesion


Input: In contrast monocytes and macrophages were the largest producers of GPR14 mRNA, with relatively little expression in foam cells, lymphocytes, and platelets.

foam cells


Input: Thus our preclinical studies show potent activity of CART33 and indicate that transient expression of anti-CD33 CAR by RNA modification could be used in patients to avoid long-term myelosuppression.

myelosuppression


Input: We found that RAC3 overexpression inhibits autophagy when induced by starvation or rapamycin and involves RAC3 nuclear translocation-dependent and-independent mechanisms.

starvation


Input: Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal.

CORS

mental retardation


Input: These studies focus on the EGF family member epiregulin (EREG) as a mediator of early stage breast tumorigenesis.

EREG

tumorigenesis


Input: Failure of this P2X7-mediated phagocytic pathway may impair removal of subretinal deposits and predispose individuals toward AMD.

subretinal deposits


Input: The findings suggest that neurologic sparing in untreated occipital horn syndrome is associated with approximately 30% residual functional activity of ATP7A.

occipital horn syndrome

occipital horn syndrome


Input: A second selection step using RT-qPCR data and significance analysis of microarrays yielded 13 genes (AP2A1, B4GALT1, C1orf63, CCR2, CFP, DIS3, NEAT1, NOXA1, OSM, PAPOLG, PRIC285, ZNF419, and BC037918) which were finally used in 343 samples (90 healthy, six cystadenoma, eight low malignant potential tumor, 19 FIGO I/II, and 220 FIGO III/IV EOC patients).

PAPOLG

tumor


Input: The secretion of VEGF was enhanced by the combination of hypoxia and DHT as compared to each treatment alone.

VEGF

hypoxia


Input: The t (12: 21) translocation fuses the TEL and AML1 genes and has been found in up to 28% of paediatric B-cell precursor acute lymphoblastic leukaemias (BCP-ALL).

translocation


Input: We found: 1) in the absence of ozone-induced oxidative stress, males had higher level of bacterial dissemination compared to females; ozone exposure decreased pulmonary clearance in both sexes and ozone-exposed females were more affected than males; 2) ozone exposure increased lung weight, but decreased spleen weight in both sexes, and in both cases ozone-exposed females were affected the most; 3) plasma cortisol levels in infected mice changed: ozone-exposed > FA-exposed, females > males, and infected > non-infected; 4) no major sex hormone differences were observed in the studied conditions; 5) differences between wild type and SP-A (-/-) mice were observed in some of the studied conditions.

SP-A

weight


Input: Neuroinflammation is often associated with neurodegenerative diseases, including multiple sclerosis (MS), stroke, Alzheimer' s disease, and HIV-1-associated dementia (HAD).

HAD

multiple sclerosis


Input: However, in comparison within each smoking group, EGFR-TKI treatment led to more favourable OS and PFS in never smokers (OS: OR, 0 · 55; 95% CI, 0 · 42-0 · 73; PFS: OR, 0 · 43; 95% CI, 0 · 33-0 · 54), compared with former or current smokers (OS: OR, 0 · 89; 95% CI, 0 · 80-0 · 97; PFS: OR, 0 · 73; 95% CI, 0 · 62-0 · 85).

EGFR

smoking


Input: A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

alternating hemiplegia of childhood

alternating hemiplegia of childhood


Input: The most common subtype of MTS is characterized by germline mutations in mismatch repair (MMR) genes leading to microsatellite instability (MSI).

MMR

microsatellite instability


Input: A previous autosome-wide screen identified a nonparametric linkage (NPL) log-likelihood ratio (LOD) score of 2. 7 on chromosome 6q26 for the sum of nine withdrawal symptoms.

NPL

withdrawal symptoms


Input: HOX11L1 and HOX11 expression were observed in one instance each, in the absence of detectable chromosomal abnormality of their respective loci, on chromosomes 2 and 10, respectively.

chromosomal abnormality


Input: We also observed that CST6, CXCL14, DHRS3, and SPP1 were associated with PTC lymph node metastasis, with CST6, CXCL14, and SPP1 being positively correlated with metastasis and DHRS3 being negatively correlated.

metastasis


Input: To clarify the origin of defective mismatch repair (MMR) in sporadic endometrial cancers with microsatellite instability (MSI), a thorough mutation analysis was performed on the human mismatch repair gene MSH3.

MMR

microsatellite instability


Input: A diagnosis of schizophrenia is a significant predictor for increased GLP, SETDB1 mRNA expression and H3K9me2 levels in both postmortem brain and lymphocyte samples.

GLP

schizophrenia

GLP

schizophrenia


Input: Factor B-deficient mice after Stx2/LPS exhibited less thrombocytopenia and were protected against glomerular abnormalities and renal function impairment, indicating the involvement of complement activation via the alternative pathway in the glomerular thrombotic process in HUS mice.

abnormalities


Input: We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy.


Input: In this study, we have not only identified a number of potential candidate miRNAs for breast cancer, but also found that deregulation of miRNA expression during breast tumorigenesis might be an early event since it occurred significantly during normal to ADH transition.

ADH

tumorigenesis


Input: This Serbian family further demonstrates that recurrent MR-1 mutations are associated with PNKD worldwide, which will affect genetic testing.

PNKD

PNKD


Input: A medical record review was also conducted to determine whether the bcl-2 t (14; 18) translocation correlated with prognosis.

translocation


Input: Association of serum lipocalin-type prostaglandin D synthase levels with subclinical atherosclerosis in untreated asymptomatic subjects.

lipocalin-type prostaglandin D synthase

asymptomatic


Input: In these models, prophylactic administration of ALC has proven to be effective in preventing the development of neuropathic pain.

ALC

neuropathic pain


Input: After 3 months of losartan treatment, systolic blood pressure was not lowered in two patients with CYP2C9 * 1/* 30, suggesting that they exhibited impaired in vivo CYP2C9 activity.

systolic blood pressure


Input: Notably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas.

thymic carcinomas

thymic carcinomas


Input: The elevated serum alpha fetoprotein (AFP) concentration in ataxia-telangiectasia (A-T) patients has been known for decades, but the individual variation of AFP levels over time has not been studied.

AFP

telangiectasia


Input: In the TWIST group, ptosis was present in 90%, amblyopia in 70%, horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%.

TWIST

hyperopia


Input: Our data showed that knockdown of PKCε expression inhibited proliferation, induced apoptosis and decreased invasiveness of human glioma cell lines U251 and U87, as well as suppressed the growth of U87 cell-derived tumors in nude mice.

glioma


Input: In primary tumor tissues, CES2 expression tended to be higher than that observed in liver metastasis tissues (p = 0. 05).

liver metastasis


Input: Based on our experience, we propose a flow cytometric algorithmic approach for the distinction of typical BPDCN from certain types of acute myeloid leukemia, but also for the identification of acute myeloid leukemia, admixed with CD56 negative DC2 cells, which could be misdiagnosed as BPDCN.

acute myeloid leukemia


Input: Seven inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, show a reduced functional activity of the receptor because they may 1) reduce its affinity for agonists; 2) prevent conversion of the receptor from a putatively immature, high mannose form into the fully glycosylated and biologically active form of the CaR, in addition to lowering its affinity for agonists; or 3) fail to couple the receptor to and/or activate its respective G protein (s).

CaR

familial hypocalciuric hypercalcemia

CaR

familial hypocalciuric hypercalcemia


Input: It is possible to be genetically predisposed to becoming obese or overweight, and several potentially causative single nucleotide polymorphisms (SNPs), such as rs9939609 (A/T) in the fat mass, and obesity-associated gene (FTO) and rs17782313 (T/C) in the melanocortin-4 receptor gene (MC4R), have been investigated.

FTO

overweight


Input: Our data demonstrated that Ars2 knockdown significantly repressed the proliferation and tumorigenesis abilities of glioblastoma cells in & #160; vitro and in vivo.

glioblastoma

glioblastoma


Input: MMR defect seems to be related with sporadic-microsatellite instability (MSI).

MMR

microsatellite instability


Input: While reports of the recovery of GGS/GCS from normally sterile sites are increasing, studies describing GGS/GCS throat colonization rates relative to GAS in the same population are very few.

GCS

sterile


Input: The risk for low anti-HBs titers increased concurrently with increases in systolic blood pressure (BP), the IL-10 ATA/ACC haplotype, and the IL-10 ATA present haplotype.

systolic blood pressure


Input: These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.

Aarskog syndrome

Aarskog syndrome


Input: Intracoronary adenovirus-mediated S100A1 gene delivery in vivo to the postinfarcted failing rat heart normalized myocardial contractile function and Ca2 + handling, which provided support in a physiological context for results found in myocytes.

S100A1 gene

adenovirus


Input: Our data suggest that bFGF regulates ERK oscillations in premalignant but not malignant JB6 cells.

ERK

premalignant


Input: The adhesion of platelets to the subendothelium of blood vessels at sites of vascular injury under high shear conditions is mediated by a direct interaction between the platelet receptor glycoprotein Ibalpha (GpIbalpha) and the A1 domain of the von Willebrand factor (VWF).

GpIbalpha

adhesion


Input: A role for AC8 in modulating complex behavioral outcomes has been demonstrated in AC8 knock out (KO) mouse models in which anxiety-like responses were differentially modulated following repeated stress experiences, suggesting an involvement of AC8 in stress adaptation and mood disorders.

anxiety


Input: C609T polymorphism of NQO1 gene leads to loss of enzyme activity, which may be a risk factor in the etiology of specific types of hematopoietic malignancies.

NQO1 gene

hematopoietic malignancies


Input: In fact, blocking cyclooxygenase-2 with NS398 in hypoxic-1833 cells, not only HIF-1α decreased but also molecular-mechanism (s) upstream of the Hippo pathway were triggered: LATS-dependent TAZ phosphorylation seemed responsible for TAZ nucleus/cytoplasm translocation and degradation.

TAZ

translocation


Input: We selected two novel genes, fibronectin type III domain containing 3B (FNDC3B) at the 3q26. 3 overlapped amplicon and solute carrier family 29 member 2 (SLC29A2) at the 11q13. 2 overlapped amplicon, to investigate their aberrations in HCC tumorigenesis.

tumorigenesis


Input: Heterogeneous mutations in the SLC22A5 gene cause primary carnitine deficiency.

carnitine deficiency

carnitine deficiency


Input: We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas.

MYB

gliomas

MYB

gliomas


Input: Amplifiable DNA was obtained from three cases of patients on HAART who died due to primary pathology other than HAD: (1) cardiovascular disease, a disease associated with HAART therapy; (2) bacterial infections, including Mycobacterium avium complex, rapid occurrence of extreme dementia; and (3) acquired immunodeficiency syndrome (AIDS)-related lymphoma with meningeal involvement.

HAD

bacterial infections


Input: Studies of mice with mild Marfan syndrome (MFS) have correlated the development of thoracic aortic aneurysm (TAA) with improper stimulation of noncanonical (Erk-mediated) TGFβ signaling by the angiotensin type I receptor (AT1r).

mild


Input: In addition, CXCL14 methylation in sputum from asymptomatic early-stage lung cancer cases was associated with a 2. 9-fold elevated risk for this disease compared with controls, substantiating its potential as a biomarker for early detection of lung cancer.

asymptomatic


Input: To test the hypothesis that SORL1 is associated with brain magnetic resonance imaging (MRI) measurements of atrophy and/or vascular disease.

atrophy


Input: Recurrent abnormalities affecting genes in key pathways were identified: IKZF1 (22%), CDKN2A/B (17%), PAX5 (8%), ETV6 (19%), and RB1 (37%).

abnormalities


Input: The function of the MALT1 gene is subverted by oncogenic chimeric fusions arising from the recurrent t (11; 18) (q21; q21) aberration, which is the most frequent translocation in mucosa-associated lymphoid tissue (MALT) lymphoma.

MALT1 gene

translocation


Input: A relationship between delirium with APOE genotype, IFN-gamma, and IGF-I, but not with IL-6, IL-1, TNF-alpha, and LIF was found.

LIF

delirium

LIF

delirium


Input: Detection of JAZF1, SUZ12, EPC1, and PHF1 rearrangement by fluorescence in situ hybridization was performed on tissue microarrays consisting of 94 ESTs of classic and variant morphology (20 ESNs, 43 primary uterine ESSs, 15 metastatic uterine ESSs, 4 primary extrauterine ESSs, 7 primary uterine UESs, and 5 unclassified ESTs), 16 Müllerian adenosarcomas, 2 malignant mixed Müllerian tumors, 2 uterine tumors resembling ovarian sex-cord tumors, 2 highly cellular leiomyomas, 1 leiomyosarcoma, and 7 polypoid endometriosis.

ESSs

tumors


Input: We genotyped six PON3 tagging single nucleotide polymorphisms (tagSNPs) and examined their associations with PON1 activity, SLE risk, antiphopholipid autoantibodies (APA), lupus nephritis, carotid vascular disease, and inflammation.

APA

inflammation


Input: Mice with deficient or reduced SERT function (SERT knockout mice) show several behavioral changes, including increased anxiety-like behavior, increased sensitivity to stress, and decreases in aggressive behavior.

SERT

aggressive behavior


Input: We tested the hypothesis that MBL genotype modulates arterial stiffness in children after KD.

MBL

arterial stiffness


Input: Microsatellite instability was determined by a panel of 10 tetranucleotide repeats, the Bethesda consensus panel of mono-and dinucleotide repeats, and coding mononucleotide repeats in transforming growth factor-beta receptor type II, hMSH3, BAX, hMSH6, and insulin-like growth factor receptor type II.

BAX

mono


Input: Taken together, these results indicate that NSAIDs inhibit hypoxia-induced angiogenesis in endothelial cells by inhibiting VEGF and Flt-1 expression through increased VHL expression and the resulting ubiquitination and degradation of HIF-1alpha.

VEGF

hypoxia


Input: Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact.

tooth agenesis


Input: We explored the association of genetic polymorphisms of: estrogen receptor alpha (ESR1-TA repeats); interleukin-6 (IL-6 G-174C); apolipoprotein E (APO epsilon2, epsilon3, epsilon4); lipoprotein lipase Pvu II (LPL P +/-), with clinical variables: gender, age, body mass index (BMI), diet type and biological variables: triglycerides, cholesterol, HDL-C, LDL-C, CRP, homocysteine, urate, and glucose in 105 healthy young subjects (20-35 yrs) of Croatian origin.

APO

body mass index


Input: A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

prion protein

Creutzfeldt-Jakob disease

prion protein

Creutzfeldt-Jakob disease


Input: Brain-derived neurotrophic factor (BDNF) has been reported to promote tumorigenesis and progression in several human malignancies.

BDNF

tumorigenesis


Input: PTEN and LKB1 are candidate genes for mutations in sporadic colon cancers, either as initiating events in tumorigenesis or providing a selective advantage during tumor growth.

tumorigenesis


Input: In addition, novel genetic interactions were revealed between CFH, HTRA1 and C3 polymorphisms that might contribute to the pathogenesis of dry AMD.

CFH

dry


Input: Loss of ACE2 exacerbates AngII-mediated inflammation, myocardial injury and dysfunction in ACE2-deficient hearts via activation of the CTGF-FKN-ERK and MMP signaling.

CTGF

inflammation


Input: High circulating levels of IGF-I and of its major binding protein IGFBP3 have been related with increased mammographic density in Caucasian premenopausal women.

IGF-I

mammographic density


Input: Various other protein products of genes associated with bipolar disorder either bind to or are affected by phosphatidyl-inositol phosphate products of this pathway (ADBRK2, HIP1R, KCNQ2, RGS4, WFS1), are associated with its constituent elements (BCR, DUSP6, FAT, GNAZ) or are downstream targets of this signalling cascade (DPYSL2, DRD3, GAD1, G6PD, GCH1, KCNQ2, NOS3, SLC6A3, SLC6A4, SST, TH, TIMELESS).

bipolar disorder

bipolar disorder


Input: Upregulation of DnaJB4 and DnaJC6 in joints by smoking was also confirmed in mice exposed to cigarette smoke.

smoking


Input: Since adeno-associated viral (AAV) vectors can be used for efficient gene transfer to these two cell types, we are developing AAV-mediated gene therapy approaches for inherited retinal degeneration using animal models that have defects in these cells.

AAV

retinal degeneration


Input: Colorectal carcinoma is known to express the androgen receptor, but data on somatic CAG repeat lengths variations in malignant and normal epithelial cells are still sporadic.

androgen receptor

sporadic


Input: Additional targets of miR-326 controlling TGF-β signaling and fibrosis-related pathways were identified, and miR-326 was found to down-regulate profibrotic genes, such as Ets1, Smad3, and matrix metalloproteinase 9, whereas it up-regulates antifibrotic genes, such as Smad7.

fibrosis


Input: Aspirin and sulindac have been shown to be effective in selecting for cells with reduced microsatellite instability (MSI) that is inherent in mismatch repair (MMR)-deficient hereditary nonpolyposis colorectal cancer (HNPCC) cells.

MMR

microsatellite instability


Input: The RUNX1 transcription factor gene is frequently mutated in sporadic myeloid and lymphoid leukemia through translocation, point mutation or amplification.

translocation


Input: These data demonstrate that IL-22-producing T cells in humans may play an important role in the defense against fungal infections such as C. albicans.

fungal infections


Input: A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.

woolly hair

woolly hair


Input: In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14, 600, 000 IU/mL).

GGT

epigastric pain


Input: While it remains unclear whether these mutations are sufficient for the clinical expression of the entire SGS phenotype, these data suggest a role for fibrillin-1 in early craniofacial and central nervous system development.

SGS

SGS


Input: FGF23 protein is a phosphaturic factor that is elevated in several diseases associated with hypophosphatemia and rickets but varies with disease status in ADHR.

ADHR

hypophosphatemia


Input: We conducted a cross-sectional study nested within the large Mexican ESMaestras cohort to investigate the relation between circulating levels of IGF-I, IGFBP-3, the IGF-I/IGFBP-3 ratio, five common SNPs in the IGF-1, IGFBP-3 and IGF-1R genes and mammographic density in 593 premenopausal Mexican women.

IGF-I

mammographic density


Input: Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan.

alcoholic pancreatitis


Input: T-cell, MLL-rearranged, TEL-AML1-positive, E2A-PBX1-positive and hyperdiploid acute lymphoblastic leukemia, with the exception of BCR-ABL-positive and' B-other' acute lymphoblastic leukemias (defined as precursor B-cell acute lymphoblastic leukemia not carrying the foregoing cytogenetic aberrations), were found to have unique microRNA-signatures that differed from each other and from those of healthy hematopoietic cells.

cytogenetic aberrations


Input: The mechanism by which amplified GPR39 induces tumorigenesis was associated with its role in promoting G1/S transition via up-regulation of cyclin D1 and CDK6.

tumorigenesis


Input: Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease resulting from occlusion of the distal internal carotid arteries.

MMD

cerebrovascular disease


Input: Considering the size of our sample and strategy, our results suggest that the PAWR does not play a major role in schizophrenia or mood disorders in the Japanese population.

PAWR

schizophrenia

PAWR

schizophrenia


Input: In this study, we examined MRP and aberrant p53 expression in 54 colorectal cancers (CRC), 35 carcinoma in adenomas (CIA) and 40 adenomatous polyps by immunohistochemical procedures.

CIA

carcinoma


Input: PU. 1 is highly expressed in leukemia cells, whereas RUNX1 is frequently inactivated by mutation or translocation.

PU. 1

translocation


Input: Genetic analysis of the HSD11B2 gene from the AME patients revealed the homozygous deletion of six nucleotides in exon 2 with the resultant loss of amino acids Leu (114) and Glu (115), representing the first alteration found in the cofactor-binding domain.

AME

AME


Input: As both RalA and RalB have been implicated in a variety of tumorigenic phenotypes, we sought to determine which proteins downstream of Rals promote transformation and tumorigenesis.

RalA

tumorigenesis


Input: Interestingly, repeating pregnancy and lactation (pregnancy-lactation cycle) exacerbated cardiac hypertrophy and systolic dysfunction and induced cardiac fibrosis, lung congestion, pleural effusion, and abnormal breathing in APJ-TG mice.

APJ

abnormal breathing


Input: We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome.

paraplegin

sporadic


Input: To validate the concept of TLR4-targeted treatment strategies in gram-negative sepsis, we first showed that TLR4 (-/-) and myeloid differentiation primary response gene 88 (MyD88) (-/-) mice were fully resistant to Escherichia coli-induced septic shock, whereas TLR2 (-/-) and wild-type mice rapidly died of fulminant sepsis.

septic shock


Input: RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.

autoimmune lymphoproliferative syndrome

autoimmune lymphoproliferative syndrome


Input: Under hypoxic conditions a significant upregulation and activation of HIF-1 alpha accompanied by an increased production of VEGF in MCF7 and A549 was observed.

VEGF

hypoxic


Input: The fibrinolytic activities of conditioned medium and cell lysates from human glioma cell lines, A172, T98G, U87 and TM1 were studied by fibrin plate zymography.

glioma


Input: Structural analysis of obscurin gene in hypertrophic cardiomyopathy.

obscurin

hypertrophic cardiomyopathy

obscurin

hypertrophic cardiomyopathy


Input: In this study, we showed that apigenin-inhibited expression of HIF-1 and VEGF in different cancer cells under both normoxic and hypoxic conditions.

VEGF

hypoxic


Input: In NF1-associated neurofibromas, most frequent losses were found in chromosomes 17 [17p11. 2-p13 in nine cases (60%); 17q24-25 in 6 cases (40%)] and 19 [19p13. 2 in eight cases (53%); 19q13. 2-qter in eight cases (53%)], whereas in sporadic neurofibromas and schwannomas losses of chromosomes 17 and 19 were detected in less than 50% of cases.

schwannomas


Input: In addition, VEGF expression by pRTP801-VEGF was induced under hypoxia.

VEGF

hypoxia


Input: The most common translocation in human lymphoma, t (14; 18) (q32; q21), recombines the bcl-2 gene with the immunoglobulin (Ig) heavy-chain locus leading to the production of high levels of chimeric RNAs and the resulting 26 kDa bcl-2 protein.

bcl-2 gene

translocation


Input: We identified the host Zn (2 +) chelator calprotectin as a neutrophil-associated antifungal agent expressed within NETs, reversibly preventing A nidulans growth at low concentrations, and leading to irreversible fungal starvation at higher concentrations.

calprotectin

starvation


Input: Worldwide, HCC is most commonly caused by viral hepatitis B and C. It is less frequently associated with chronic exposure to toxins or hereditary liver diseases.

HCC

liver diseases


Input: Taken together, our data indicate an integral role for KRIT1 in microvessel homeostasis and the vascular response to inflammation.

inflammation


Input: We conclude that carriers of N291S or combined D9N/-93T--> G mutations in the LPL gene are at substantially increased risk of pre-eclampsia.

LPL gene

pre-eclampsia


Input: Thus, inactivation of TGF-β signaling and loss of PTEN cooperate to drive intestinal cancer formation and progression by suppressing cell cycle inhibitors.

PTEN

intestinal cancer


Input: No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy.

apolipoprotein E

childhood onset


Input: Abnormalities of PAX2, PAX3, PAX6, and PAX9 are associated with various congenital craniofacial anomalies, including tooth abnormalities.

tooth abnormalities


Input: Since MAP kinase have been demonstrated to participate in neuronal stimulus-transcription coupling following seizure activity, the present study investigated the induction of MKP-1 in the rat brain after limbic epilepsy.

epilepsy


Input: Irradiation and hypoxia promote homing of haematopoietic progenitor cells towards gliomas by TGF-beta-dependent HIF-1alpha-mediated induction of CXCL12.

TGF-beta

hypoxia


Input: Somatic cell hybrids between LPL-producing hepatoma cells and non-LPL-producing cells, such as adult rat hepatocytes or fibroblasts, exhibited extinction of LPL gene expression.

LPL gene

hepatoma


Input: Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Hydrolethalus syndrome

Hydrolethalus syndrome


Input: We describe what are, to our knowledge, the first reported primary colonic MALT lymphoma carrying t (14; 18) (q32; q21)/IGH-MALT1, and one of the few reported cases of gastric MALT lymphoma with this translocation.

translocation


Input: We have used a new, rapid sequence analysis technique-comparative sequence analysis (CSA)-to examine the NF1 gene in six patients with NFNS.

NFNS

NFNS


Input: Although there is a wealth of evidence linking the IGF signalling pathway with overgrowth and cancer, recent progress in the study of 11p15 and developments in our understanding of the mechanism of genomic imprinting indicate that additional imprinted genes located in this region also contribute to these growth disorders.

IGF

overgrowth


Input: Our study results show that ovarian fibromas, fibrothecomas, and leiomyomas have a similar immunophenotype (positive for CD56, WT1, ER-beta, and PR) to that of ovarian stromal cells, supporting an ovarian stromal origin for these neoplasms.

ER-beta

fibromas


Input: We evaluated the methylation status of 10 genes (p16, p14, runt-related transcript factor-3 (RUNX3), cyclooxygenase-2 (COX-2), E-cadherin, methylated-in-tumor-1 (MINT1), MINT31, HPP1, estrogen receptor, SLC5A8) in UC-CRC tumors and non-neoplastic sections from both UC-CRC cases and UC controls (n = 114 for each) using methylation-specific PCR.

non-neoplastic


Input: Metallothionein 3: an androgen-upregulated gene enhances cell invasion and tumorigenesis of prostate carcinoma cells.

Metallothionein 3

prostate carcinoma


Input: In our study, we screened HCCs resulting from HCV infection (51 cases), HBV infection (26 cases) or excess alcohol intake (23 cases) for alterations in genes involved in the RB1 pathway (p16 (INK4a), p15 (INK4b), RB1, CDK4 and cyclin D1), the p53 pathway (p53, p14 (ARF) and MDM2) and the Wnt pathway (beta-catenin, APC).

beta-catenin

alcohol intake


Input: We investigated the impact of the fatness-related FTO rs9939609 A-allele on cross-sectional and longitudinal measures of body mass index (BMI), height and lean body mass (LBM) in a unique cohort representing a broad range of BMI.

FTO

height


Input: As activin A is a differentiation factor of human endometrium, the present findings support an imbalance between increased activin A and decreased FLRG expression in endometrial cancer, so that the failure of the activin A pathway through FLRG may be pivotal in endometrial tumorigenesis.

FLRG

endometrial cancer


Input: Using mouse models, three recent papers have shed light on the mechanisms of mutant p53 and its family members, p63 and p73, in tumorigenesis.

tumorigenesis


Input: FGFR1 mRNA expression was higher in depression than in the other groups in CA1, CA4 and DG.

depression


Input: The transcriptional cofactor Che-1 is an RNA polymerase II (Pol II) which is involved in tumorigenesis, such as breast cancer and multiple myeloma.

tumorigenesis


Input: The carrier role of TTR is well-known; however, many other functions have emerged, namely in the nervous system.

TTR

nervous system


Input: NOTCH1 mutations are associated with aortic valve malformations and adult-onset calcification in families with inherited disease.

calcification

calcification


Input: A number of neuropsychiatric disorders including autism, schizophrenia, bipolar disorder, major depression, Alzheimer' s disease and lissencephaly share a common feature of abnormal Reelin expression in the brain.

Reelin

major depression

Reelin

major depression


Input: We investigated the significance of AGXT2 in methylarginine metabolism in vivo and examined the effect of this enzyme on blood pressure.

blood pressure


Input: Liver expression of key genes related to de novo FA synthesis (LXRα, SREBP1c, ACC1, FAS), FA uptake and transport (PPARγ, CD36, FABP4), FA oxidation (PPARα), and inflammation (IL6, TNFα, CRP, PPARδ) were assessed by RT-qPCR in 127 MO women with normal liver histology (NL, n = 13), simple steatosis (SS, n = 47) and non-alcoholic steatohepatitis (NASH, n = 67).

alcoholic steatohepatitis


Input: However, in those granulomas exhibiting caseous necrosis, very little IFN-gamma or IL-4 mRNA was observed, implying that progression of the granuloma is accompanied by a down regulation of T-cell responses.

IFN

granuloma


Input: The expression of IL-22 and IL-17A mRNAs in asymptomatic monosensitized seroatopic children suggests a role of these cytokines in the early events involved in the development of these allergic diseases.

asymptomatic


Input: We have identified previously a gene from a human cervical carcinoma cell (HeLa) cDNA expression library that encodes a M (r) approximately 37, 000 c-myc promoter-binding protein (MBP-1), which binds to the TATA box sequences of c-myc P2 promoter and exerts a negative regulatory function by down-regulating c-myc expression.

myc promoter-binding protein

cervical carcinoma


Input: At least in some families, as many as 25% of individuals with MFN2 mutations may be asymptomatic and have a normal electrophysiologic examination, although a detailed neuromuscular examination may suggest the trait.

asymptomatic


Input: In the present work, we have tested the possibility that upregulation of the transcription factor interferon regulatory factor 3 (IRF3) can inhibit glioma invasiveness, proliferation and production of pro-inflammatory and pro-angiogenic factors in cultures of malignant glioma cell lines (U271, U87 and SNB-19).

glioma


Input: Homozygous null mice for thyroid transcription factor (TTF)-2 gene exhibit cleft palate and thyroid malformation.

TTF

cleft palate


Input: Notably, SphK1 (-/-) mice subjected to AOM had significantly less aberrant crypt foci (ACF) formation and significantly reduced colon cancer development.

aberrant crypt foci


Input: TRIP6 regulates p27 KIP1 to promote tumorigenesis.

tumorigenesis


Input: Our data indicate that p27 may be an important regulator of cellular proliferation in the anterior pituitary, the underexpression of which could play a role in pituitary tumorigenesis.

tumorigenesis


Input: These data provide new avenues from which to explore the associations of the prolactin/prolactin receptor signaling network with breast tumorigenesis.

prolactin receptor

tumorigenesis


Input: This mouse model has no white fat, resulting in abnormal levels of glucose, insulin, and leptin, making the A-ZIP/F-1 mice a good model for lipodystrophy and insulin resistance.

ZIP

insulin resistance


Input: Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~ 60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.

opsismodysplasia

opsismodysplasia


Input: Novel mixed-lineage kinase protein zipper sterile-alpha-motif kinase (ZAK) was first cloned by our laboratory.

ZAK

sterile


Input: Downregulation of the E-cadherin cell-cell adhesion molecule is a key event for epithelial to mesenchymal transition (EMT) in tumour progression.

EMT

tumour progression


Input: Genetic alterations and a chaotic tumor microenvironment, such as hypoxia, acidosis, free radicals, and cytokines, are clearly attributed to numerous abnormalities in the expression and signaling of VEGF and its receptors.

VEGF

hypoxia


Input: Mice that are nullizygous for Sbf1 exhibit male infertility characterized by azoospermia.

male infertility