Input: Our previous study showed that RhoE is a tumor suppressor gene and its expression is down-regulated in gastric cancer.

RhoE

gastric cancer


Input: In the present study, Restriction Fragment Length Polymorphism (RFLP) of three genetic markers viz., Internal Transcribed Spacer (ITS), ITS1 and heat shock protein 70 (hsp70) have been employed for typing the clinical isolates [n = 15] of KA and post Kala-azar Dermal Leishmaniosis (PKDL) collected from India and Bangladesh in the period of 2006-2010.

shock


Input: The known TSA hit rates (1. 9% and 0. 8%) are enriched by 29-fold and 35-fold over those of mutation analysis.

TSA

hit


Input: Multivariate adjusted linear trend regression analysis of metabolic, anthropometric and blood pressure variables in FABP1 T94A genotypes were performed in both genders.

blood pressure


Input: S1P2 receptor mediated fibronectin expression through the activation of S1P-S1P2-MAPK (ERK1/2 and p38MAPK) axis in mesangial cells under high glucose condition, suggesting that it might be a potential therapeutic target for diabetic nephropathy treatment.

diabetic nephropathy


Input: FLNC and KCNE2 co-localised within the cell, however, a physical interaction was only observed under hypoxic conditions.

FLNC

hypoxic


Input: We identified mutations of the CD40 ligand gene in 13 unrelated Japanese XHIM patients.

CD40 ligand

XHIM

CD40 ligand

XHIM


Input: Interferon gamma-induced human guanylate binding protein 1 inhibits mammary tumor growth in mice.

guanylate binding protein 1

mammary tumor


Input: ALCAM' s role in adhesion of tumor cells to the vascular wall was studied in isolated perfused lungs.

ALCAM' s

adhesion


Input: Real-time quantitative PCR showed that MCM5, MCM7, and RAD9 mRNA expression were significantly higher in malignant than in benign thyroid neoplasms (< or = 0. 0012).

thyroid neoplasms


Input: With the function of C4. 4A still unknown, we explored the impact of hypoxia on C4. 4A expression and functional activity.

C4. 4A

hypoxia


Input: An untranslated insertion variant in the uncoupling protein 2 gene is not related to body mass index and changes in body weight during a 26-year follow-up in Danish Caucasian men.

uncoupling protein 2

body weight


Input: In logistic regression analysis that was adjusted for body mass index, age, race, smoking, blood pressure, serum testosterone and estradiol levels, and gestational age at serum collection, sex hormone binding globulin levels remained independently associated with subsequent gestational diabetes mellitus.

sex hormone binding globulin

body mass index


Input: Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

cone-rod dystrophy

cone-rod dystrophy


Input: Furthermore, the inflammation inhibitor minocycline blocked Tim-3 and iNOS expression induced by stroke.

inflammation


Input: Germline mutation of the tumour suppressor PTEN in Proteus syndrome.

PTEN

Proteus syndrome

PTEN

Proteus syndrome


Input: These data suggest that upregulated expression of IL-2, IL-4, and IFN-gamma may be part of the inflammatory cascade of human acute GVHD, while IL-1 alpha, TNF-alpha, and IL-6 are not discriminatory for the inflammation observed at the time of initial GVHD diagnosis.

inflammation


Input: Neurofibromin deficiency deregulates Ras/Raf/MEK/ERK and Ras/PI3K/AKT/PKB/mTOR signaling networks and intersected pathways including the cAMP-dependent protein kinase A (PKA) and the Rho-cofillin which acts on actin cytoskeleton reorganization, cell motility and adhesion.

PKB

adhesion


Input: We demonstrate how hypoxic and oxidative stress induced CL-P1 expression and compared their effects with the expression of lectin-like oxidized low-density lipoprotein receptor 1 (LOX-1), an endothelial scavenger receptor expressed by oxidative stress.

hypoxic


Input: The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma.

MIM

mesothelioma


Input: These results suggest that urea accumulation in the hippocampus induced by UT-B deletion can cause depression-like behavior, which possibly attribute to disturbance in NOS/NO system.

NOS

depression

NOS

depression


Input: In various sporadic thyroid tumor types of adults structural genetic aberrations have been found involving mutations of RAS (codon 12, 13, 61), p53 (exons 5 to 8), Gsalpha (codon 201 and 227), and, at a low prevalence, the receptor tyrosine kinases RET or NTRK1.

sporadic


Input: In this study, we demonstrated that suppression of IFITM1 expression significantly inhibited proliferation of glioma cells in a time-dependent manner.

glioma


Input: Identification of a mutant-like conformation of p53 in fibroblasts from sporadic Alzheimer' s disease patients.

sporadic


Input: Expression of TNF-alpha-induced intercellular adhesion molecule-1 and vascular cell adhesion molecule-1 was inhibited by K (1-5) treatment, possibly via downregulation of translocation of nuclear factor-kappaB and expression of reactive oxygen species.

TNF-alpha

translocation


Input: Overexpression of the miRNA cluster 182/96/183 is specific in SDHB-mutated tumours and induces malignant traits, whereas silencing of the imprinted DLK1-MEG3 miRNA cluster appears as a potential driver in a subgroup of sporadic tumours.

sporadic


Input: In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t (3; 11) (q12; p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3.

translocation


Input: Antibodies against beta-adrenergic receptors in patients with myasthenia gravis binds to both beta1-and beta2-adrenergic receptors and might be implicated in the few patients with myasthenia gravis who have heart disease.

myasthenia gravis


Input: FoxO4 activates Arg1 transcription in endothelial cells in response to MI, leading to downregulation of nitric oxide and upregulation of neutrophil infiltration to the infarct area.

infarct


Input: We have shown previously that rats can be cured from induced peritoneal colon carcinomatosis by injections of apoptotic bodies derived from tumor cells and interleukin 2.

interleukin 2

carcinomatosis


Input: Heterozygosity for a G--& gt; A mutation converting Val384 (GTG) to Met (ATG) associated with plasmin inhibitor (alpha2-antiplasmin) deficiency was identified in three family members with bleeding tendency.

plasmin inhibitor

antiplasmin) deficiency

plasmin inhibitor

antiplasmin) deficiency


Input: Fourteen homozygous long (PER3 (5/5)) and 15 homozygous short (PER3 (4/4)) allele carriers underwent both a 40-h sleep deprivation and multiple nap protocol under controlled laboratory conditions.

sleep deprivation


Input: Accumulation of cyclin E at the G1-S boundary is achieved by periodic transcription coupled with regulated proteolysis linked to autophosphorylation of cyclin E. The proper timing and amplitude of cyclin E expression seem to be important, because elevated levels of cyclin E have been associated with a variety of malignancies and constitutive expression of cyclin E leads to genomic instability.

cyclin E

genomic instability


Input: In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6.

HS

HS


Input: Lysophosphatidic acid (LPA) is present at elevated concentrations in the ascites and plasma of ovarian cancer patients.

LPA

ascites


Input: To elucidate a possible role of BRCA2 and RB1 in sporadic breast tumorigenesis, allelic imbalance (AI) at 13q loci was examined in 78 primary sporadic breast tumors.

tumorigenesis


Input: The objective of this study was to investigate the potential relation of megalin receptor injury with nuclear factor-kappa B (NF-& #954; B) upregulation in acute kidney injury rat model.

megalin

acute kidney injury

megalin

acute kidney injury


Input: HDAC1 and HDAC5 protein levels were elevated in lungs from human idiopathic pulmonary arterial hypertension and in lungs and right ventricles from rats exposed to hypoxia.

idiopathic pulmonary arterial hypertension

idiopathic pulmonary arterial hypertension


Input: We analysed PAX5/BSAP expression by Northern and Western blotting in a panel of haematological tumour cell lines with other chromosome abnormalities in comparison with that of KIS-1.

KIS

chromosome abnormalities


Input: These findings confirm previous studies that aneusomy of 7 is associated with prostate cancer progression, and there may be a tumor suppressor gene (TSG) at 7q31. 1 which is associated with tumor progression.

TSG

prostate cancer


Input: We searched for PKP2 variants in the genomic DNA of 200 patients with a BrS diagnosis, no signs of arrhythmogenic cardiomyopathy, and no mutations in BrS-related genes SCN5A, CACNa1c, GPD1L, and MOG1.

cardiomyopathy


Input: To determine whether genetic variation in these genes plays a role in sporadic PD, we performed a genetic association study in a screening sample of 340 PD patients and 680 controls and a large replication sample of 669 PD patients and 669 controls using 54 single nucleotide polymorphisms in and around the Engrailed 1/2, PITX3, LMX1B and OTX2 genes.

sporadic


Input: Consistent with this, there was a 200-fold increase in the number of CD14 + CD16bright monocytes in the blood during viremia and even several months after virus clearance.

viremia


Input: Elp3 genetic ablation strongly impaired invasion and metastasis formation in the PyMT model of invasive breast cancer.

breast cancer

breast cancer


Input: The correlation of cytology, TERC amplification, human papillomavirus typing, and histological diagnosis showed that infection with high-risk human papillomavirus was detected in 64% of the LBC samples with normal histopathology, in 65% of the cervical intraepithelial neoplasia (CIN) 1, 95% of the CIN2, 96% of the CIN3 lesions, and all carcinomas.

LBC

carcinomas


Input: The role of promoter methylation in the inactivation of E-cadherin (E-cad) in salivary gland adenoid cystic carcinoma (ACC) is unknown.

E-cadherin

salivary gland adenoid cystic carcinoma


Input: Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene.

Mucopolysaccharidosis type IIIA

Sanfilippo A

Mucopolysaccharidosis type IIIA

Sanfilippo A


Input: We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion.

SCAD

SCAD deficiency

SCAD

SCAD deficiency


Input: An adenovirus carrying antisense ODC (rAd-ODC/Ex3as) was infected to prostate cancer cells PC-3 and LNCap.

adenovirus


Input: Arg TP53 homozygotes were found to be significantly underrepresented among adults with post-Chernobyl PTC, but not in children and adolescents when compared with sporadic PTC cases and the general population.

sporadic


Input: Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35.

EWSR1 gene

translocation


Input: Our results suggest that NPM may play an important role in the progression of tumorigenesis and that NPM may serve as a potential marker for HCC.

NPM

tumorigenesis


Input: Uncoupling protein 2 (UCP2) plays an important role in body weight and energy metabolism and may be related to the control of food consumption.

body weight


Input: Although CTNNB1 mutations were not observed, second somatic APC mutations were found in 4 of the 8 tumors: a uterine adenocarcinoma, a hepatocellular adenoma, an adrenocortical adenoma, and an epidermal cyst.

epidermal cyst


Input: CEBPA mutation status was not demonstrated to be of prognostic importance in this patient group, although this may reflect the selection and size of the AML population studied.

CEBPA

AML

CEBPA

AML


Input: We assessed the relationship between Nt-pro-BNP and (1) the extent of ischemia on stress myocardial perfusion imaging (MPI), and (2) changes between the basal and postexercise ejection fraction (EF), in stable patients with a normal EF.

MPI

ischemia


Input: Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

bipolar disorder


Input: PCR amplification and sequence of the translocation junction fragments indicated that the breakpoint was localized within exon 7 of EWS.

EWS

translocation


Input: As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.

keratin 9

EPPK

keratin 9

EPPK


Input: No significant association between CLC risk and TT genotype was observed in patients with distal tumors (odds ratio, 1. 01; 95% confidence interval, 0. 48-2. 14).

CLC

tumors


Input: To explore the effects of hypoxia-induced deterioration of AD-like pathogenesis and investigate the correlation between hypoxia-induced NRF2 signal alterations and CD36 expression, we examined the NRF2 signaling, CD36, and oxidative stress events in hypoxia-treated APPswe/PSEN1dE9 (APP/PS1) mice brain.

APP

hypoxia


Input: There was a significant association between increased IL-4 production by CD4 and CD8 T lymphocytes and hypersensitivity reactions to abacavir.

hypersensitivity reactions


Input: Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356.

bipolar affective disorder

bipolar affective disorder


Input: HRG stimulation also caused a rapid redistribution of calnexin from vesicle-like structures in the cell cytoplasm to the perinuclear area and to the cell membrane.

HRG

vesicle


Input: Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

Hirschsprung disease

Hirschsprung disease


Input: The degree of sodium-depletion, the aetiology and severity of hypertension and heart rate did not contribute independently from plasma renin activity to the development of hypotension.

renin

hypotension

renin

hypotension


Input: SSTR3 and SSTR4 mRNAs were detected in 1 and 2 cases of somatotroph adenoma, respectively.

somatotroph adenoma


Input: DNA analyses of the family members revealed that conventional assays of erythrocyte PBGD activity identified correctly only 72% of the carriers for the AIP mutation.

PBGD

AIP

PBGD

AIP


Input: These data suggest new routes to develop FAAH-based analgesia by targeting of FAAH-OUT, which could significantly improve the treatment of postoperative pain and potentially chronic pain and anxiety disorders.

FAAH-OUT

analgesia

FAAH-OUT

analgesia


Input: Thus, PTX3, an effector molecule belonging to the humoral arm of innate immunity, acts as an extrinsic oncosuppressor gene in mouse and man by regulating Complement-dependent, macrophage-sustained, tumor-promoting inflammation.

inflammation


Input: Intracerebroventricular (10 nmol/3 microL) and intrahippocampal (20-50 microm) NPY administration increased hippocampal dopamine and attenuated pilocarpine-induced seizures.

NPY

seizures

NPY

seizures


Input: A significant correalation existed between expressions of L-selectin mRNA and surface L-selectin in acute leukemia patients (gamma = 0. 782, P < 0. 05).

L-selectin

acute leukemia


Input: The final study with 253 familial patient cases (74 BRCA1, 71 BRCA2, 108 non-BRCA1/2), and 288 sporadic patient cases, has allowed us to confirm our preliminary results.

sporadic


Input: Autosomal recessive immunodeficiency without EDA is caused by mutations in the gene encoding IRAK-4, a kinase acting upstream from the IKK complex in the TIR signaling pathway.

IRAK

immunodeficiency


Input: The FEV (1) decline was related to the following clinical characteristics: CFTR genotype, age, gender, weight, height, age at diagnosis, baseline FEV (1), pancreatic function, presence of airway infection, pancreatic insufficiency and diabetes, number of exacerbations/year and intravenous (i. v.)

CFTR

height


Input: Macrophage scavenger receptors, such as CD36 and class A scavenger receptor (SR-A), have previously been thought to play a central role in foam cell formation and atherogenesis by mediating the uptake of oxidized LDL.

atherogenesis


Input: The overexpressed EphB4 was tyrosine phosphorylated, and we found that EphB4 kinase activity is important for inhibition of integrin-mediated adhesion, although several EphB4 tyrosine phosphorylation sites are dispensable.

adhesion


Input: The EWS-WT1 translocation product induces PDGFA in desmoplastic small round-cell tumour.

PDGFA

desmoplastic


Input: The increased Cu uptake and elevated ATP7A also facilitate the increase in LOX activity and thus the increase in crosslink of extracellular matrix, and eventually leading to the increase in pulmonary arterial stiffness.

arterial stiffness


Input: We used the recombinant orf virus to assess the contribution of the viral VEGF to the vascular response seen during orf virus infection of skin.

VEGF

infection of skin


Input: HCC related to MS may occur either in advanced fibrosis or before the development of cirrhosis, suggesting involvement of different molecular pathways according to the features of background liver.

HCC

fibrosis


Input: The purpose of this study was to determine if NPY Y5 receptor antagonism reduces ethanol self-administration and reinforcement in a rodent genetic animal model of alcoholism.

NPY Y5 receptor

alcoholism

NPY Y5 receptor

alcoholism


Input: The second gene fusion event, a translocation between the CLPTM1L and GLIS3 genes, generates a transcript whose product also promotes cancer phenotypes in HCC cell lines.

HCC

translocation


Input: A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

luteinizing hormone receptor

gonadotropin-independent precocious puberty

luteinizing hormone receptor

gonadotropin-independent precocious puberty


Input: High-density array-based comparative genomic hybridization (aCGH) was performed to clarify genome-wide chromosomal structural alteration profiles of both early and advanced components of this nodule-in-nodule HCC.

HCC

nodule


Input: Compared with non-HBC, invasive BRCA1-related HBC had a lower diploidy rate (13% vs. 35%; P = 0. 002), lower mean aneuploid DNA index (1. 53 vs. 1. 73; P = 0. 002), and strikingly higher proliferation rates (mitotic grade 3; odds ratio [OR] = 4. 42; P = 0. 001; aneuploid mean S-phase fraction 16. 5% vs. 9. 3%, P < 0. 0001).

aneuploid


Input: To investigate the 192 Gln-Arg polymorphism of paraoxonase (PON) gene and its relationship with serum lipids and apolipoproteins (apo) levels in patients with endogenous hypertriglyceridemia in Chinese population in Chengdu area.

PON

endogenous hypertriglyceridemia


Input: Transcript levels of nuclear respiratory factor-1, peroxisome proliferator-activated receptor-gamma-coactivator-1alpha, cytochrome oxidase (COX) subunit II, and uncoupling protein-2 (UCP2) were coordinately induced in the hypertrophied right ventricle following hypoxia.

COX

hypoxia


Input: We sequenced the MLH1/MSH2 coding and promoter core regions in CRC patients diagnosed below age 40, and/or with multiple primary cancers or familial cancer clustering suggestive of HNPCC, and correlated deleterious mutations with clinical and tumour features.

CRC

CRC


Input: Nm23H1 and H2 are prototypical metastasis suppressors with diverse functions, but recent studies suggest that they may also regulate tumorigenesis.

tumorigenesis


Input: LIF and IGFBP-3 were also expressed in neurofibrillary tangles, as well as in neurons in AD and control brains.

LIF

neurofibrillary tangles


Input: The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.

insulin resistance


Input: In aggregate, these data identify CEACAM16 as an & #945;-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus.

ADNSHL

ADNSHL


Input: We recently found that an extra-pure formulation of EPA as Free Fatty Acid (EPA-FFA) protects from colon cancer development in a mouse model of Colitis-Associated Cancer (CAC) through modulation of NOTCH1 signalling.

CAC

colon cancer


Input: The default mode network (DMN) is one of the neural networks that can be used to explore the complex relationships between depressive symptoms, episodic memory deficits and other cognitive impairments.

DMN

depressive symptoms


Input: Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations.

beta-catenin

pilomatricomas

beta-catenin

pilomatricomas


Input: Cidea-null mice had higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment.

Cidea

cold


Input: cDNA archives were generated by global reverse transcription polymerase chain reaction from CD38 + +/CD19-/CD56-/+ + aberrant PCs of a prospective cohort of 96 subjects, including healthy individuals, patients with monoclonal gammopathies of undetermined significance (MGUS), MM and MM with extramedullary manifestations (ExMM).

monoclonal gammopathies


Input: We employed a recently constructed serotype 5/3 adenovirus, which is more effective than a serotype 5 virus in delivering mda-7/IL-24 to renal carcinoma cells and which conditionally replicates (CR) in tumor cells expressing MDA-7/IL-24 by virtue of placing the adenoviral E1A gene under the control of the cancer-specific promoter progression elevated gene-3 (Ad. 5/3-PEG-E1A-mda-7; CRAd. 5/3-mda-7, Ad. 5/3-CTV), to define efficacy in renal carcinoma cells.

CRAd

cancer


Input: Anti-Mullerian hormone is a more accurate predictor of individual time to menopause than mother' s age at menopause.

Anti-Mullerian hormone

age at menopause


Input: Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V.

glycyl tRNA synthetase

glycyl tRNA synthetase


Input: We identified the Pro1198Leu ABCC8 mutation in a PNDM patient, and clarified the functional and clinical characterization.

PNDM

PNDM


Input: The nuclear translocation of BCL10 was also dependent on BCL3 because silencing BCL3 by RNA interference abrogated this translocation.

translocation


Input: Hypermethylation of the P14 gene was detected in 100/208 (48. 1%), 52/108 (48. 1%), 16/100 (16%) and 8/100 (8%) among HCC, liver cirrhosis, chronic hepatitis and control groups, respectively, with a statistically significant difference between the studied groups (p-value 0. 008).

HCC

chronic hepatitis


Input: p53 expression in neurofibroma and malignant peripheral nerve sheath tumor. An immunohistochemical study of sporadic and NF1-associated tumors.

sporadic


Input: In this study, we report on the effects of re-establishment of this pathway in a prostate cancer cell line, PC-3, in which this adhesion system is dysfunctional by virtue of a deletion of the gene that codes for alpha-catenin, an E-cadherin-associated protein necessary for normal E-cadherin function.

cadherin-associated protein

prostate cancer


Input: KIT/stem cell factor expression in premalignant and malignant lesions of the colon mucosa in relationship to disease progression and outcomes.

stem cell factor

premalignant


Input: We report on a pediatric kidney transplant recipient with NPHS2-associated nephrotic syndrome and FSGS, who developed biopsy-proven recurrence of FSGS 10 years post-transplant in temporal association with conversion from cyclosporin A (CsA)-to sirolimus (SRL)-based immunosuppression, due to histological evidence of severe CsA-induced nephrotoxicity.

SRL

nephrotic syndrome


Input: In addition, 5 ERM samples from PDR patients aged 51 +/-16 years with 15 +/-6 years of diabetes were processed for immunohistochemical analysis.

ERM

diabetes


Input: Consequently, we explored the possibility that JARID2 itself could be a candidate gene for 6p22. 3-linked SZ.

SZ

SZ


Input: Our results show that in DEN-treated rats, although the progression of liver fibrosis is associated with hepatocellular hypoxia and angiogenesis, VEGF and Flt-1 expressions in the liver are increased and correlated with the density of microvessels.

liver fibrosis

liver fibrosis


Input: Compartmentalized expression of Th1 and Th17 cytokines in pediatric inflammatory bowel diseases.

inflammatory bowel diseases


Input: CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis.

adhesion


Input: Thus, HA-1-specific immunotherapy combined with HLA-identical allogeneic SCT may now be feasible for patients with HA-1 (+) carcinomas.

carcinomas


Input: It is well known that the responses of serum gamma glutamyl transferase (GGT) to chronic alcohol drinking are different depending on the individual.

GGT

alcohol drinking


Input: Taken together, our results show that EphA1 appears to be a differentiation marker for esophageal squamous cells, and its increased expression is positively associated with lymph node metastasis and advanced disease stage.

esophageal


Input: Therefore, we propose that the activating FCGR2C-ORF genotype predisposes to ITP by altering the balance of activating and inhibitory FcgammaR on immune cells.

ITP

ITP


Input: After stratification with the strongest outcome predictor, grading, survival analysis revealed that Ptc expression in grade 2 and PDX-1 expression in grade 3 carcinomas are independent survival factors.

carcinomas


Input: Both carriers were also associated with symptomatic NCC (P <. 001 for Gly; P <. 004 for Ile), when compared with asymptomatic NCC.

NCC

asymptomatic


Input: Our findings provide some further evidence to suggest that PON1 Q192R is associated with preterm birth; they invite further investigation of both maternal and fetal genotype for PON1 Q192R in relation to preterm birth.

preterm birth


Input: The patient' s tumor consisted of 5 different histological features in a single nodule: well-differentiated HCC with trabecular pattern; and moderately differentiated HCC with 4 different patterns (i. e., trabecular, pseudoglandular, solid, and scirrhous).

HCC

nodule


Input: Our earlier studies identified the DP-1 gene (TFDP1) as a probable target within a 13q34 amplicon that is frequently detected in hepatocellular carcinomas (HCC) and esophageal squamous-cell carcinomas.

carcinomas


Input: Upon stimulation of rat hepatoma cells, CT-1 and LIF induced the strongest rat fibrinogen mRNA expression, OSM and IL-6 induced a less pronounced response.

OSM

hepatoma


Input: To test the hypothesis that AURKA amplification contributes to pancreatic tumorigenesis by increasing centrosome abnormality and chromosome instability, the current study explored the associations between AURKA amplification, chromosome instability, centrosome abnormality, and the expression of several important proteins that are involved in cell proliferation (Ki-67), cell cycle regulation (p53, p16), and apoptosis (survivin) in 12 human pancreatic carcinoma cell lines.

AURKA

tumorigenesis


Input: From another aspect, IFN-gamma has been revealed to suppress c-myc expression in vivo through a stat1-dependent mechanism, which is important for cell growth, cell cycle and chromosome instability.

chromosome instability


Input: Based on these results, we propose that Pitx3-/-mice may serve as a useful genetic animal model for co-morbid depressive disorder and parkinsonism.

depressive disorder

depressive disorder


Input: Interestingly, TIMs were also co-expressed with some members of the B7 superfamily, including B7-H1, B7-H3 and B7-H4 on sarcoma cells.

sarcoma


Input: In vitro, periostin increased proliferation, adhesion, migration, and collagen production in RPE cells through integrin αV-mediated FAK and AKT phosphorylation.

AKT

adhesion


Input: Here, we found that in mice, subchronic administration of the psychoactive component of cannabis, delta9-tetrahydrocannabinol (THC), activated cerebellar microglia and increased the expression of neuroinflammatory markers, including IL-1 & #946;.

cannabis

cannabis


Input: Expression of hMSH2 gene and mutant p53 in sporadic digestive tract tumors.

sporadic


Input: B-cell attracting chemokines may therefore have relevance in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNPs) Methods: Polyp and inferior turbinate tissues were obtained from CRSwNPs, CRS without NPs (CRSsNPs), and control patients; ELISA and reverse-transcription polymerase chain reaction were used to detect levels of protein and mRNA for selected B-cell chemokines (B-cell attracting chemokine 1 [CXCL13/BCA-1/BLC]), thymus expressed chemokine (CCL25/TECK), mucosae-associated epithelial chemokine (CCL28/MEC), stromal cell-derived factor-1alpha (CXCL12/SDF-1alpha), and selected chemokine receptor genes (CXCR4, CXCR5, and CXCR7).

BLC

nasal polyps


Input: Toward this goal, we investigated the difference in the ACh receptor repertoires between normal and malignant BECs, determined effects of nicotinic ligands on 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK)-dependent activation of ERK1/2 and tumorigenic transformation of MCF10A cells, and characterized reciprocal effects of NNK and SLURP (secreted mammalian Ly-6/urokinase plasminogen activator receptor related protein-1)-1 on the expression of nAChR subunits and several oncogenes and tumor-suppressing genes in BECs.

tumorigenic transformation


Input: Heterozygous CBP-deficient mice, which had truncated CBP protein (residues 1-1084) containing the CREB-binding domain (residues 462-661), showed clinical features of RTS, such as growth retardation (100%), retarded osseous maturation (100%), hypoplastic maxilla with narrow palate (100%), cardiac anomalies (15%) and skeletal abnormalities (7%).

CBP

growth retardation


Input: Tetraploidy was significantly 3 times more common in BRCA2 breast cancers than sporadic.

sporadic


Input: We sought to determine the prevalence of GCM2 gene mutations in patients with familial or sporadic forms of isolated hypoparathyroidism (IH).

GCM2 gene

sporadic


Input: Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.

AVP

neurohypophyseal diabetes insipidus

AVP

neurohypophyseal diabetes insipidus


Input: Results from the current meta-analysis indicate that EGF + 61A > G polymorphism might increase the risk of esophageal and colorectal cancers.

EGF

esophageal


Input: The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED.

EDAR

HED

EDAR

HED


Input: The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.

Rapp-Hodgkin syndrome

Rapp-Hodgkin syndrome


Input: Notably, several germline mutations were found matching between paired FNMTC patients from the same family, including APC L292F and A2778S, BRAF D22N, MSH6 G355S and A36V, MSH2 L719F, MEN1 G508D, BRCA1 SS955S, BRCA2 G2508S, and a GNAS inframe insertion.

FNMTC

FNMTC


Input: We found significant associations between SLE and genetic variants within TNIP1, but not in TNIP2 or TAX1BP1.

SLE

SLE


Input: To examine the relationship of the serum C-reactive protein (CRP) and endothelial function and their associations with coronary artery calcification, lipid profile and cardiac changes.

CRP

coronary artery calcification


Input: Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

acid beta-galactosidase

Morquio disease type B

acid beta-galactosidase

Morquio disease type B


Input: We studied a cohort containing 368 children at high risk of developing atopy and atopic disorders and 540 parents of those children to investigate whether the IL13 Arg130Gln and C-1112 T polymorphisms were associated with these outcomes.

atopic


Input: When the data was combined across genders and analysed by age, the decrease in Freud-1 protein level was greater in the younger MDD subjects (48%, p = 0. 01) relative to age-matched controls as opposed to older depressed subjects.

MDD

MDD


Input: Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

breast cancer

breast cancer


Input: Gene sets for hypoxia, proliferation and intrinsic radiosensitivity did not correlate with recurrence, whereas expression of the putative stem cell marker CD44 did.

hypoxia


Input: Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1.

fragile X syndrome

fragile X syndrome


Input: The most significant p value was obtained for the SNP in the ELAVL2 [(embryonic lethal, abnormal vision, Drosophila)-like 2] gene located on 9p21. 3 (p = 0. 00087).

abnormal vision


Input: Because 5-HT induces release of S100beta, we investigated the codependence of 5-HT receptors and SERT in regulating S100A4/Mts1 in human pulmonary artery smooth muscle cells (hPA-SMC).

codependence


Input: Increased connective tissue growth factor relative to brain natriuretic peptide as a determinant of myocardial fibrosis.

connective tissue growth factor

myocardial fibrosis


Input: No effects were seen on LV weight, cardiac insulin-like growth factor (IGF) I, IGF-I receptor and GH receptor mRNA content.

IGF

weight


Input: Collectively, these results not only identify a pathway downstream from Rheb that contributes to tipifarnib cytotoxicity in human acute myelogenous leukemia cells, but also demonstrate that FTI-induced killing of lymphoid versus myeloid cells reflects distinct biochemical mechanisms downstream of different farnesylated substrates.

Rheb

acute myelogenous leukemia


Input: Notably, APOBEC3B is upregulated, and its preferred target sequence is frequently mutated and clustered in at least six distinct cancers: bladder, cervix, lung (adenocarcinoma and squamous cell carcinoma), head and neck, and breast.

lung (adenocarcinoma

lung (adenocarcinoma


Input: CONCLUSIONS: We provide the first direct evidence for RGC-32 as a hypoxia-inducible gene and antiangiogenic factor in endothelial cells.

hypoxia


Input: Significant differences of TLR4-NFkappaB pathway molecules and SOCS1 mRNA expression in laryngeal tumor cells and normal adjacent mucosa cells as well as significant interconnections of TLR4, SOCS1 and NFkappaB (p65) in isolated tumor cells were obtained.

laryngeal tumor


Input: BPIFB1 was localized in CF lung samples along with BPIFA1, MUC5AC, CD68 and NE and directly compared to histologically normal lung tissues and that of bacterial pneumonia.

bacterial pneumonia


Input: Biological basis of the HLA-B8, DR3-associated progression of acquired immune deficiency syndrome.

immune deficiency


Input: We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis).

GS

GS


Input: This alteration was not associated with phosphatase and tensin homologue (PTEN), K-RAS, or beta-catenin mutations, but was more frequent among tumors showing microsatellite instability (MSI) or among tumors that were estrogen receptor positive.

tensin

microsatellite instability


Input: In comparing the radiology of the novel Th-ALK (F1174L)/Th-MYCN and the well-established Th-MYCN genetically-engineered murine models of neuroblastoma using MRI, we have identified a marked ALK (F1174L)-driven vascular phenotype.

MRI

neuroblastoma


Input: Human PTH-(1-34) caused a rise in serum calcium, a rise in nephrogenous cAMP, a fall in renal phosphate reabsorption, and, in particular, a rise in serum 1, 25-(OH) 2D.

PTH

fall


Input: In the present study, the effects of common GSTM1, GSTT1, and GSTP1 genetic mutations on the severity of myelosuppression, gastrointestinal (GI) toxicity, and infection incidences induced by pulsed CTX therapy were evaluated in patients SLE.

myelosuppression


Input: Using immunohistochemistry, expression of CD9 was studied in 17 samples of head and neck mucosa and skin (laryngeal mucosa: n = 2, oral: n = 6, and epidermis: n = 9) and a variety of vascular tumors (lymphangiomas: n = 9, juvenile nasopharyngeal angiofibromas: n = 4, hemangiomas: n = 7, angiosarcomas: n = 5, and Kaposi' s sarcomas: n = 7) and compared with the expression of CD34 and PAL-E (blood vessel markers) and the lymphatic marker podoplanin.

angiofibromas


Input: This study compared microstructural abnormalities in depressed elders and controls and studied the association of the serotonin transporter gene status to white matter abnormalities and to remission of depression.

serotonin transporter

abnormalities


Input: GLP-1 receptor agonists have been shown to increase calcitonin secretion and stimulate C-cell hyperplasia and neoplasia in rats and mice of both sexes.

GLP-1 receptor

hyperplasia

GLP-1 receptor

hyperplasia


Input: Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p. Leu167del mutation.

APOE

autosomal dominant hypercholesterolemia

APOE

autosomal dominant hypercholesterolemia


Input: Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis.

alpha-enolase

smoking


Input: To our knowledge this is the first study identifying the novel polymorphisms of the ORAI1 gene, which may predispose to the risk of calcium nephrolithiasis and disease recurrence.

ORAI1 gene

calcium nephrolithiasis


Input: TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeostasis (β-catenin and Notch), cell motility, and adhesion (integrin-β3, ras-related C3 botulinum toxin substrate [RAC], and fibronectin), hypoxia (Hypoxia-inducible factor 1-alpha [HIF1α], egl-9 family hypoxia-inducible factor 1 [Egln1], and glucose-regulated protein, 78 kDa [GRP78]), and apoptosis (B-cell lymphoma-extra large (BclXL) and caspase 9).

RAC

adhesion


Input: There is evidence indicating that RelB may serve as a pro-survival factor, including its ability to promote " inflammation resolution " besides the association of RelB with inflammatory disorders.

RelB

inflammation


Input: Core 2 beta1, 6-N-acetylglucosaminyltransferase-1 (C2GnT-1) is mainly expressed in BCP-leukemia cells.

leukemia


Input: p53 mutations in sporadic adrenocortical tumors.

sporadic


Input: Interaction between TNFR1 and TNFR2 dominates the clinicopathologic features of human hypopharyneal carcinoma.

carcinoma


Input: 15-LOX-2 was detected in 76% (28/37) of the normal esophageal mucosae, but only in 46% (29/63) of the cancer specimens using IHC (P <. 01).

esophageal


Input: Although previous studies have demonstrated that DBP led to a variety of male reproductive abnormalities similar to those caused by androgen receptor antagonists, DBP and its active metabolite, mono-butyl phthalate (MBP), have been demonstrated no affinity for the androgen receptor, but rather exert anti-androgenic effect by altering testosterone biosynthesis.

DBP

abnormalities


Input: In the course of the procedure of differential diagnoses, we included fluorescence in situ hybridization analysis for detection of a FAM22B-YWHAE fusion gene resulting from t (10; 17) (q22; p13), recently reported in a series of endometrial stromal sarcoma, and unexpectedly identified breakages at three loci, i. e.

endometrial stromal sarcoma


Input: We also observed partial or entire loss of expression in genes such as CCBE1, CCDC11, CD226, NP_115536. 1, NP_689683. 2, RNF152, SERPINB8, and TCF4 in certain breast and/or prostate cancer cell lines.

prostate cancer


Input: Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.

RTT

RTT


Input: Association between the G protein beta3 subunit 825t allele and radial artery hypertrophy.

hypertrophy


Input: In the present study we investigated the link of non-synonymous variants of five genes of the Notch pathway (NOTCH2, NOTCH3, JAGGED2, ASCL1 and NUMBL) to schizophrenia in a group of 200 Brazilian patients and 200-paired controls.

schizophrenia

schizophrenia


Input: This dissociation may shed light on the pathogenesis of familial hyperkalemia and hypertension, on pregnancy-related hypertension, and on the mechanism of action of WNK4 kinase, a major regulator of cellular ion transport.

dissociation


Input: In the present study we have examined the MATA1 gene of eight hypermethioninemic individuals, including the two with demyelination of the brain.

brain

brain


Input: Transforming growth factor-beta1 (TGF-beta1) signalling was analysed in liver samples of dogs with acute hepatitis (AH), chronic hepatitis (CH), cirrhosis (CIRR), and a specific form of cirrhosis, lobular dissecting hepatitis (LDH), in comparison with human cirrhotic samples from alcohol abuse (ALC) and hepatitis C (HC).

ALC

acute hepatitis


Input: IL-13 is an important factor in AEDS development in early childhood, and prophylactic anti-staphylococcal treatment may provide protection from AEDS in atopic individuals.

atopic


Input: These findings support that CPA4 is imprinted and may become a strong candidate gene for prostate cancer-aggressiveness.

aggressiveness


Input: Microsatellite instability and p53 mutations in sporadic right and left colon carcinoma: different clinical and molecular implications.

sporadic


Input: Joint effect of polymorphism in the N-acetyltransferase 2 gene and smoking on hepatocellular carcinoma.

N-acetyltransferase 2

smoking


Input: N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment.

NAGS

neurological impairment


Input: Myricetin exerts anti-proliferative, anti-invasive, and pro-apoptotic effects on esophageal carcinoma EC9706 and KYSE30 cells via RSK2.

esophageal carcinoma


Input: Hsp27 ASO and small interference RNA also enhanced paclitaxel chemosensitivity in vitro, whereas in vivo, systemic administration of Hsp27 ASO in athymic mice decreased PC-3 tumor progression and also significantly enhanced paclitaxel chemosensitivity.

tumor progression


Input: Wnt7a signaling through its receptor Fzd7 accelerates and augments regeneration by stimulating satellite stem cell expansion through the planar cell polarity pathway, as well as myofiber hypertrophy through the AKT/mammalian target of rapamycin (mTOR) anabolic pathway.

AKT

hypertrophy


Input: Consequently, FGF2 plays a major role in cardiac hypertrophy.

cardiac hypertrophy

cardiac hypertrophy


Input: The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes.

MWS

MWS


Input: Thus, 5-HT (1B) mRNA is upregulated by repeated exposure to cocaine and perhaps by social stress as well; both of these factors are relevant to the risk for relapse in cocaine addiction.

5-HT (1B

cocaine addiction

5-HT (1B

cocaine addiction


Input: Single-cell analysis of circulating tumor cells identifies cumulative expression patterns of EMT-related genes in metastatic prostate cancer.

EMT

metastatic prostate cancer


Input: Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan' s syndrome, ectopia lentis and neonatal Marfan' s syndrome.

Marfan' s syndrome

Marfan' s syndrome


Input: After short-term (3-d) exposure to cyclic hypoxia, mitochondrial manganese superoxide dismutase (MnSOD) was upregulated and 70-kd heat shock proteins (HSP70) were downregulated.

hypoxia


Input: The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations.

XLMTM

XLMTM


Input: X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22. 1-p21. 3 in a Belgian family.

hypogonadism


Input: The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.

deafness-dystonia peptide

deafness-dystonia syndrome

deafness-dystonia peptide

deafness-dystonia syndrome


Input: In conclusion, it was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome.

XLP

XLP


Input: Enzymatic amplification technique was used to isolate all eight exons and sequences around the splice junctions, putative promoter, and polyadenylation sites of human factor X DNA from a patient with factor X deficiency.

factor X

factor X deficiency

factor X

factor X deficiency


Input: Consistent with the overexpression of miR-519c in cancer patients with better prognosis, mice injected with miR-519c-overexpressing cells exhibited dramatically reduced HIF-1alpha levels, followed by suppressed tumor angiogenesis, growth, and metastasis.

metastasis

metastasis


Input: In addition, when myeloma cells were coincubated with 50 microM etodolac on bone marrow stromal cells (BMSCs), myeloma cell adhesion to BMSCs was significantly inhibited compared with thalidomide or meloxicam coincubation, and the adhesion molecules VLA-4, LFA-1 (CD11a), CXCX4, and CD44 were suppressed on myeloma cells treated with etodolac.

adhesion


Input: Hyperthyroid rats presented lower sperm motility, higher levels of lipid hydroperoxides and thiobarbituric reactive substances, lower catalase and glutathione peroxidase activities and higher glutathione-S-transferase activity in their testes than control animals.

catalase

Hyperthyroid

catalase

Hyperthyroid


Input: No pathogenic mutations were identified; however, a variant in the promoter of PACRG was shown to be significantly associated with azoospermia, but not oligospermia, in the case-control cohort.

PACRG

azoospermia


Input: Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM).

NTM

cystic fibrosis


Input: A number of SNPs in the IL10, CYP24A1, CYP2R1, IL1RL1 and CD86 genes were modestly associated with asthma and atopy (p < 0. 05).

atopy


Input: In a study of 58 sporadic and 34 BRCA2 999del5 Icelandic invasive cancers, there was a significant association of LOH at 3p14. 2 with reduced expression of Fhit (P = 0. 001); also the lower expression of Fhit and higher LOH at 3p14. 2 in BRCA2 999del5 tumors relative to sporadic cancers was significant (P = 0. 002).

sporadic


Input: Frequent hypermethylation of RASSF1A and TSLC1, and high viral load of Epstein-Barr Virus DNA in nasopharyngeal carcinoma and matched tumor-adjacent tissues.

viral load


Input: This comprehensive meta-analysis provides confirmatory evidence that multiple SORL1 variants in distinct linkage disequilibrium blocks are associated with AD.

AD

AD


Input: We could demonstrate an up-regulation of HO-1 protein in CCl (4)-exposed liver tissue that reaches its maximum after 6 to 12 h, along with intrahepatic leukocyte accumulation and tissue injury.

liver

liver


Input: Here we show that DA3 mouse mammary tumor cells stably transfected with a truncated genomic fragment of human MUC1 undergo EMT.

EMT

mammary tumor


Input: These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.

BDC

BDC


Input: Loss of heterozygosity of APC, 3p, p53, p16, and K-ras mutations were present in 21%, 40%, 27%, 20%, and 19% of CUC patients with hyperplastic polyps, respectively, and in 0%, 11%, 20%, 13%, and 13% of non-CUC patients with sporadic polyps, respectively.

sporadic


Input: Until recently, the main genetic defects known to be associated with thromboembolism were antithrombin III, protein C and protein S deficiency accounting together for about 10% of the cases.

antithrombin III

thromboembolism


Input: p53 null mutations were found in 31. 4% of BRCA1 mutant cancers, compared with only 9. 3% of the sporadic cancers (P = 0. 002).

sporadic


Input: Prognostic role of osteopontin expression in malignant pleural mesothelioma.

osteopontin

mesothelioma

osteopontin

mesothelioma


Input: The serotonin transporter (5-HTT) is the selective site of action of most proserotonergic compounds used to treat bipolar depression.

bipolar depression

bipolar depression


Input: Together, our results demonstrate for the first time that fenofibrate inhibits RPB4 expression in dyslipidemic human subjects and suggest that inhibition of RBP4 expression in adipocytes may provide a mechanism by which fenofibrate improves insulin sensitivity in dyslipidemic patients.

insulin sensitivity


Input: Two mutations in the TP53 gene in a sporadic and a radiation-induced tumor were detected.

TP53 gene

sporadic


Input: Especially, the two genes (ADAM10 and CAMK2A) have been reported to be associated with Alzheimer' s disease, bipolar disorder and depression.

bipolar disorder

bipolar disorder


Input: RhoE was knocked down to explore the role of RhoE on sensitivity of chemotherapy in gastric cancer by MTT.

RhoE

gastric cancer


Input: FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms.

aneurysms


Input: We searched for mutations in HNF1Β and PAX2 in North American children with renal aplasia and hypodysplasia (RHD) enrolled in the Chronic Kidney Disease in Children Cohort Study (CKiD).

CKiD

renal aplasia


Input: We conducted Kaplan-Meier analyses to determine if the GST polymorphisms were related to progression-free survival (PFS) and performed logistic regression to explore associations between GST polymorphisms and occurrence of grade 3 or greater (> or = Gr 3) myelosuppression, ototoxicity, nephrotoxicity, neurotoxicity, and intellectual impairment.

GST

ototoxicity


Input: Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.

bladder cancer

bladder cancer


Input: The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and-2).

JNK

hypertrophy


Input: Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

XPG

XPG


Input: AIP germline mutations show a low, but non-negligible, prevalence in non-familial acromegaly patients with tumors resistant to treatment with somatostatin analogues.

AIP

acromegaly

AIP

acromegaly


Input: However, CHK expression was not detected in brain endothelial cells, transformed neuroblastoma or astrocytoma cell lines, nor in primary human neuroblastoma and glioblastoma tumors (10 cases), indicating that loss of CHK expression is associated with human brain tumors.

CHK

astrocytoma


Input: In our study, clinicopathological features together with p53 gene mutations were analyzed in 218 patients with RCC: 22 received dialysis followed by renal transplantation, 39 received dialysis alone, and 157 sporadic RCC.

p53 gene

sporadic


Input: This study presents a time course analysis of the messenger RNA (mRNA) levels of c-fos, vasopressin (VP), and oxytocin (OT) in the paraventricular (PVN) and supraoptic nucleus (SON), following acute and chronic dehydration by water deprivation.

SON

dehydration


Input: In contrast, HS-induced mucosal inflammation and apoptotic cell death in the duodenum, jejunum, and colon were far less than those observed in ileum as judged by the levels of expression of TNF-alpha, iNOS, activated caspase 3, and Bcl-2.

mucosal inflammation


Input: Histopathological examination of hippocampal CA1 neurons was done 7 days after ischemia.

ischemia


Input: Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.

glucose-6-phosphate dehydrogenase gene

asymptomatic


Input: In SLE, mild patients were associated with B13 (RR = 3. 7) and severe patients with B17.

mild


Input: GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by beta-galactosidase deficiency attributable to mutations in the GLB1 gene.

Morquio B disease

Morquio B disease


Input: In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.

ovarian cancers

ovarian cancers


Input: Because androgens have powerful effects on bone growth and metabolism, we determined whether a single base pair (bp) substitution (T--> C) in the promoter region (-34 bp) of CYP17 is associated with sex hormone levels, stature, and femoral mass and size in 333 white men aged 51-84 years (mean +/-SD; 66 +/-7 years).

stature


Input: In mice, DNA damage initiated by chemotherapeutic drug cyclophosphamide activated caspase 1 through the formation of the NLRP3 complex resulting in detrusor hyperplasia.

hyperplasia


Input: In a previous TP53 analysis carried out on sporadic and NF1-related malignant peripheral nerve sheath tumors, in two cases, we observed the occurrence of C238Y missense mutation, leading to p53 stabilization unexpectedly coupled with immunophenotypic MDM2 overexpression.

sporadic


Input: In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family.

Farber disease

Farber disease


Input: Angiotensin II-induced hypertension altered vascular glutathione flux by increasing GSSG export and decreasing vascular levels of glutathione in wild-type (FVB) but not in MRP1-/-mice.

hypertension

hypertension


Input: The results revealed that tissue and serum miR-21 was upregulated significantly in the groups of cirrhosis, early and advanced HCC compared with normal and fibrosis groups.

HCC

fibrosis


Input: Pregabalin and gabapentin reduce release of substance P and CGRP from rat spinal tissues only after inflammation or activation of protein kinase C.

substance P

inflammation

substance P

inflammation


Input: In 68 patients with different leukemias the expression of the following adhesion molecules was examined: CD11a, CD18, CD54, CD44, CD58, and CD59.

adhesion


Input: Our results suggest that the aberrant REST-mediated transcriptional regulation of, at least, CRH, adenylate cyclase 5, and tumor necrosis factor superfamily, member 12-13, might be state-dependent and associated with the pathophysiology of major depression.

adenylate cyclase 5

major depression

adenylate cyclase 5

major depression


Input: Selective impairment of p53-mediated cell death in fibroblasts from sporadic Alzheimer' s disease patients.

sporadic


Input: Interleukin-1 receptor-associated kinase (IRAK)-4 deficiency is a rare primary immunodeficiency disorder characterized by severe, invasive infections with Streptococcus pneumoniae.

IRAK

infections


Input: Genetic variation in SIRT1 has been associated with body mass index (BMI) and risk of obesity.

body mass index


Input: Our results, indicating that missense mutations of BRCA1 and BRCA2 tend to predominate over frameshifts or nonsense mutations in Japanese breast cancer families, will contribute significantly to an understanding of mammary tumorigenesis in Japan, and will be of vital importance for future genetic testing.

breast cancer

breast cancer


Input: The reduction in beta2 mRNA expression alone, or in both alpha4 and beta2 mRNA expressions, suggests a reduction in functional nAChRs in the putamen, which may in part explain the susceptibility to hypokinetic disorders of the elderly and subjects with ischemic damage in the striatum.

hypokinetic


Input: Intracellular HSP70-expression is induced by a wide variety of stimuli including heat, fever, hypoxia, oxygen radicals, endotoxins, cytokines, and heavy metal ions.

hypoxia


Input: Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion.

Nodular fasciitis

Nodular fasciitis


Input: ]), adding simple clinical measurements that included metabolic syndrome traits (simple clinical model), and, finally, assessing complex clinical models that included (1) 2-hour post-oral glucose tolerance test glucose, fasting insulin, and C-reactive protein levels; (2) the Gutt insulin sensitivity index; or (3) the homeostasis model insulin resistance and the homeostasis model insulin resistance beta-cell sensitivity indexes.

C-reactive protein

insulin resistance


Input: Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region.


Input: Our data strongly suggest that increased PI3K/AKT-mediated metastatic invasiveness in CaP is associated with FOXO4 loss, and that mechanisms to induce FOXO4 re-expression might suppress CaP metastatic aggressiveness.

aggressiveness


Input: In contrast, intrathecal substance P 100 nmol produced hyperalgesia, and intrathecal DAMGO 10 nmol produced antinociception.

substance P

hyperalgesia

substance P

hyperalgesia


Input: For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.

ovarian cancer

ovarian cancer


Input: The course of AA in the B19 infection group was less than 2 mo and the serious aplastic anemia (SAA) and very serious aplastic anemia (VSAA) were more frequently observed in this group than the controls (P < 0. 05).

SAA

aplastic anemia


Input: Eighty colorectal cancers with high-grade tumor budding were studied, including nine sporadic colorectal cancers with immunohistochemical loss of expression of MLH1 (MLH1 (-)), seven colorectal cancers from patients with hereditary nonpolyposis colorectal cancer, and 64 sporadic colorectal cancers expressing both MLH1 and MSH2 (MLH1 (+)).

sporadic


Input: PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs.

RCC

RCC


Input: Chfr and hMLH1 hypermethylation, which may lead to chromosomal instability (CIN) and microsatellite instability (MSI), respectively, was analyzed in gastric noninvasive neoplasias (NIN, Padova international classification) and submucosal invasive adenocarcinomas and in their corresponding non-neoplastic gastric epithelia.

Chfr

non-neoplastic


Input: Stratifying POSH cases by tumour characteristics identified SNPs in FGFR2 and TOX3 associated with ER-positive disease and SNPs in ATM associated with ER-negative disease.

POSH

tumour


Input: Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome.

Leigh syndrome

Leigh syndrome


Input: A significant difference in insulin resistance between obese and non-obese adolescents was observed in all studied indices (mean values of the insulin levels: 24. 9 vs. 9. 71 mIU/L in T0, 128 vs. 54. 7 mIU/L in T60 and 98. 7 vs. 41. 1 mIU/L in T120 respectively; AUC: 217 vs. 77. 2 ng/ml * h, mean values of B% (state beta cell function), S% (insulin sensitivity), and IR were 255 (± 97) vs. 135 (± 37. 8), 46. 6 (± 37. 3) vs. 84. 2 (± 29. 6) and 3 (± 1. 55) vs. 1. 36 (± 0, 56); HIS, WBIS and ISIBel median 3. 89, 44. 7, 0. 73 vs. 8. 57, 110, 2. 25.

HIS

insulin resistance


Input: Expression of two major hypoxia-induced proteins, the hypoxia-inducible factor-1α (HIF1A) and the carbonic anhydrase IX (CA9), examined within a large cohort including 61 familial (3 BRCA1, 28 BRCA2, 30 BRCAX) and 225 sporadic male breast cancers showed that 31% of all male breast cancers expressed either HIF1A (25%) and/or CA9 (8%) in the combined cohort.

sporadic


Input: Interestingly, α-mangostin, which is a xanthone derivative, canceled the resistance by increasing the expression level of DR5 through down-regulation of miR-133b and effectively induced the translocation of DR5 to the cancer cell surface membrane in TRAIL-resistant DLD-1 cells.

translocation


Input: Mitochondrial DNA (mtDNA) mutations associated with rhabdomyolysis are rare but have been described in sporadic cases with mutations in the cytochrome b and cytochrome c oxidase (COX) genes and in 3 cases with tRNALeu mutation.

COX

sporadic


Input: Fifty-seven Dukes C colorectal cancer patients were given 5-fluorouracil-interferon-alpha 2b adjuvant treatment from October 1986 to September 1990.

interferon-alpha 2b

colorectal cancer

interferon-alpha 2b

colorectal cancer


Input: Sod2 reduction decreased amyloid plaques in the brain parenchyma but promoted the development of cerebrovascular amyloidosis, gliosis, and plaque-independent neuritic dystrophy.

gliosis


Input: Interleukin 4 mRNA was not expressed in the nonatopic subjects but was expressed in 9 asymptomatic patients and in 17 symptomatic patients.

Interleukin 4

asymptomatic


Input: STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.

endometriosis


Input: Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer' s disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein.

glucose intolerance


Input: TAZ knockdown in MCF7 cells also retards anchorage-independent growth in soft agar and tumorigenesis in nude mice.

TAZ

tumorigenesis


Input: Tumor hypoxia enhanced the expression of CTGF, which initiates the invasive angiogenesis cascade and enhances expression of many hypoxia-associated genes.

CTGF

hypoxia


Input: Despite the technological advantage of fluorescence in-situ hybridization on tissue microarray, which allows refining regions of amplification, we were not able to recognize any of the MYBL2, ZNF217, CYP24 and STK6 genes as a particular relevant gene for melanoma tumorigenesis.

tumorigenesis


Input: Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.

MPZ

Dejerine-Sottas neuropathy

MPZ

Dejerine-Sottas neuropathy


Input: In the second case, 830 μg/kg body weight LPS was given 24 h prior to either IGF-I or GPE.

IGF-I

body weight


Input: A growing body of evidence suggests that ANP might be involved in the symptomology of alcohol dependence.

ANP

alcohol dependence


Input: Human TIMP1 or TIMP2 has been introduced in pancreatic tumor cells under the control of a constitutive promoter using adenoviral vectors, and the effect on tumor invasion observed.

pancreatic tumor


Input: This suggests that in contrast to hereditary disease, BRCA1 and BRCA2 are not commonly involved in sporadic ovarian cancer and may indicate that there are two distinct pathways for the development of ovarian cancer.

sporadic


Input: We describe 3 such cases in which we employed fluorescence in-situ hybridization analysis to detect translocation involving the EWS gene and reverse transcription polymerase chain reaction followed by sequencing to detect the fusion transcript EWS-FLI1.

EWS gene

translocation


Input: One hundred and eighty-four chronic hepatitis B patients and 205 asymptomatic HBV carriers were recruited to make the comparison of frequencies of genotype and haplotype of the VDR gene between the patients and the carriers.

VDR gene

asymptomatic


Input: FST-gene transfection did not affect the cell proliferation, motility, invasion, or adhesion to endothelial cells in vitro.

FST

adhesion


Input: In conclusion, ESAM inactivation can reduce susceptibility to atherosclerosis by inhibiting plaque neovascularization and macrophage infiltration into the atheroma.

ESAM

atheroma


Input: Cdk2 is required for breast cancer mediated by the low-molecular-weight isoform of cyclin E.

cyclin E

weight


Input: ERCC1 and XPF expression in human testicular germ cell tumors.

XPF

germ cell tumors

XPF

germ cell tumors


Input: Indeed, ELISA revealed that the CTGF protein/cell in medium conditioned by MDA231 cells exposed to hypoxia was maximally greater at 24 h than in the medium from normoxic cultures and that the secretion rate (supernatant CTGF/cell layer CTGF) increased in a time-dependent manner from 24 to 72 h of hypoxic exposure.

CTGF

hypoxic


Input: In PCOS patients, variables of body composition (body mass index (BMI), waist to hip ratio, dual-energy X-ray-absorptiometry fat mass) and of insulin resistance were correlated with IL-6 or CRP, while parameters of hyperandogenism were not.

CRP

insulin resistance


Input: The prototypic long PTX3 is a multifunctional protein involved in innate resistance to pathogens and in controlling inflammation.

inflammation


Input: 15-Methyl-LXA4 treatment significantly reduced the proteinuria, glomerular infiltration of leukocyte, expressions of IL-1beta and IL-6 protein and mRNA, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1, NF-kappaB and STAT3, and increased the p27 (kip1) expression.

NF-kappaB

proteinuria


Input: In this study, we have determined the effect of ribozymes specific for LIM kinase-2 on metastatic and proliferative phenotypes of human fibrosarcoma cells.

LIM kinase

fibrosarcoma


Input: The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.

gastric cancer

gastric cancer


Input: OCT imaging in a 6-year-old asymptomatic patient carrying this mutation did not demonstrate retinal lesions.

OCT

asymptomatic


Input: Induction of Ras by SAF-1/MAZ through a feed-forward loop promotes angiogenesis in breast cancer.

SAF

breast cancer


Input: Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm.

matrix metallopeptidase 1

thoracic aortic aneurysm


Input: Differential expression of cytokine transcripts in human epithelial ovarian carcinoma by solid tumour specimens, peritoneal exudate cells containing tumour, tumour-infiltrating lymphocyte (TIL)-derived T cell lines and established tumour cell lines.

TIL

epithelial ovarian carcinoma


Input: The association: myelodysplastic syndrome, eosinophilia and translocation t (5; 12) (q31-33; p12-13), seems to be a specific hematologic disorder.

hematologic disorder


Input: AA diplotype of ADORA2A is associated with AESD and may alter the intracellular adenosine/cAMP cascade, thereby promoting seizures and excitotoxic brain damage in patients.

AESD

AESD


Input: Furthermore, stabilization of HIF-1α protein, caused either by VHL deficiency under normoxia, or by hypoxia, significantly reduced Prx3 expression.

hypoxia


Input: In brain tumor tissue, ADAM8 and ADAM19 undergo activation by prodomain removal resulting in active proteases.

brain tumor


Input: To evaluate the frequency of clonal abnormalities in patients with unexplained persisting eosinophilia we analyzed 40 patients (27 males, 13 females) using cytomorphology, cytogenetic analysis, interphase fluorescence in situ hybridization (FISH), and reverse transcriptase polymerase chain reaction (RT-PCR).

FISH

eosinophilia


Input: Manipulation of pulmonary prostacyclin synthase expression prevents murine lung cancer.

prostacyclin synthase

lung cancer

prostacyclin synthase

lung cancer


Input: These data suggest implication of DSCAM in the adult neurogenesis of primate hippocampus upregulated after ischemia.

DSCAM

ischemia


Input: As seen in HI epidermis, proteins that are normally expressed in late differentiation were highly dysregulated in the ABCA12-ablated OTCC system.

HI

HI


Input: This triggers aneuploidy and cell death that correlates with, but can occur in the absence of, Epstein-Barr virus (EBV) reactivation, caspase activation, and/or expression of the BH3-only protein Puma.

BH3-only protein

aneuploidy


Input: In addition, we generated U251 glioma cells that stably express an inducible knockdown shRNA to experimentally eliminate KCa3. 1 expression.

KCa3. 1

glioma


Input: Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome


Input: Based on this particular observation, we decided to evaluate whether the TP53 Arg72Pro polymorphism (rs1042522) (C215G) was implicated in the etiopathology of sporadic amyotrophic lateral sclerosis (SALS).

sporadic


Input: In human mammary tumor T47D cells that contain both progesterone and epidermal growth factor (EGF) receptors, the progestin-induced transactivation at various hormone regulated promoters is enhanced by EGF.

EGF

mammary tumor


Input: One patient with severe type 5 hyperlipoproteinemia (MIM 144650), fasting chylomicronemia and relapsing pancreatitis resistant to standard therapy was found to be homozygous for a novel GPIHBP1 missense variant, namely G56R.

MIM

pancreatitis


Input: The Ewing' s sarcoma family of tumors (ESFT) contain a translocation, t (11; 22), which results in the novel oncogenic fusion protein EWS/FLI1.

EWS

translocation


Input: We conducted a gene search in a family we previously reported with a severe, lethal epileptic encephalopathy mapping at 16pter-p13. 3.

epileptic encephalopathy


Input: Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5; 13 translocation.

translocation


Input: Decreased spinophilin but unchanged MAP2 expression provides molecular evidence for a hippocampal dendritic pathology in schizophrenia that preferentially affects the spines.

spinophilin

schizophrenia

spinophilin

schizophrenia


Input: The correlation between residual DSBs and the severity of acute reactions demonstrated that residual γ-H2AX foci in head-and-neck cancer patients increased with the severity of oral mucositis and skin reaction.

neck cancer


Input: Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1.

depression

depression


Input: Our data suggest that suppression of ERGIC3 could provide a framework for the development of effective lung cancer therapies.

lung cancer

lung cancer


Input: Task2 activation by reactive oxygen species generated during hypoxia could silence RTN neurons, thus contributing to respiratory depression.

hypoxia


Input: Together, these results indicate that the relationship among DBP, tPA and ageing play an important role in the outcome of cerebral ischaemia.

DBP

ageing


Input: Because most brain metastases occur after the development of systemic disease, these findings prompt consideration of brain prophylaxis strategies with HER-2-inhibiting small molecules able to cross the blood-brain barrier and/or radiologic screening to detect asymptomatic brain metastases.

asymptomatic


Input: ], as well as Th17 (that produce IL-17), and T suppressor lymphocytes including regulatory T cells (Treg), which express the transcription factor forkhead box P3 (Foxp3), play critical roles in the development of angiotensin II, deoxycorticosterone salt-sensitive and Dahl salt-sensitive hypertension, and in the progression of vascular remodeling.

vascular remodeling


Input: In sum, the association between XRCC1 and HNSCC risk differed by HPV16 status and smoking.

smoking


Input: We recently reported that rhabdomyosarcoma cell lines express and secrete interleukin 15 (IL-15), a tightly regulated cytokine with IL-2-like activity.

rhabdomyosarcoma


Input: A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle' s disease.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: For example, tumors of the Ewing' s sarcoma family have in common a characteristic t (11; 22) chromosomal translocation, the Ewing' s sarcoma (EWS) (22q12) gene rearrangement, and the MIC2 gene.

EWS

chromosomal translocation


Input: The levels of adhesion molecules (intercellular cell adhesion molecule-1 [ICAM-1], E-selectin, P-selectin), von Willebrand factor (vWf) and endothelin-1 were measured in patients with hypertension without any other risk factors of atherosclerosis before and after treatment with quinapril (n = 22) and in normotensive controls (n = 22).

von Willebrand factor

hypertension

von Willebrand factor

hypertension


Input: Furthermore, the inactivation of the p16 gene by these carcinogenic exposures supports a possible role for oxidative stress and inflammation in the etiology of human lung cancer.

p16 gene

inflammation


Input: These results suggest that urinary mRNA levels of IL-10 and IL-22 might be used as biomarkers for assessing disease activity and risk stratification in lupus nephritis.

lupus nephritis


Input: One such a paradigm exists in the developing nervous system, where neuronal migration and axonal path finding is balanced by chemoattractive and chemorepulsive cues, such as the neuronal repulsive guidance molecule-A (RGM-A).

neuronal migration

nervous system


Input: In this study a significantly higher level of TNF-alpha and its soluble receptors, TNF-R1 and TNF-R2, has been found in plasma of patients affected by the sporadic form of ALS compared to normal subjects.

TNF-alpha

sporadic


Input: YB-1 knockdown by siRNA upregulated 344 genes, including MDR1, thymidylate synthetase, S100 calcium binding protein and cyclin B, and downregulated 534 genes, including CXCR4, N-myc downstream regulated gene 1, E-cadherin and phospholipase C. Exogenous serum addition stimulated YB-1 translocation from the cytoplasm to the nucleus, and treatment with Akt inhibitors as well as Akt siRNA and integrin-linked kinase (ILK) siRNA specifically blocked YB-1 nuclear localization.

calcium binding protein

translocation


Input: In conclusion, the miR-137 which is frequently down-regulated in gastric cancer is potentially involved in gastric cancer tumorigenesis and metastasis by regulating AKT2 related signal pathways.

tumorigenesis


Input: In contrast, Men1 (+/-); Cdk2 (-/-) mice showed pituitary and islet tumorigenesis comparable to those in Men1 (+/-) mice.

tumorigenesis


Input: Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.

smoking


Input: However, the mechanism through which FOXC1 controls aggressiveness of basal-like breast cancer remains to be elucidated.

aggressiveness


Input: A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Charcot-Marie-Tooth disease and deafness

Charcot-Marie-Tooth disease and deafness


Input: TGF-beta isoforms and TGF-beta receptors in drug-induced and hereditary gingival overgrowth.

TGF-beta

gingival overgrowth


Input: IL-21 was increased in the gut of patients with UC-associated colon cancer, and in mice with CAC induced by azoxymethane (AOM) and dextran sulfate sodium (DSS).

CAC

colon cancer


Input: The data suggest that AA-NAT could be a susceptibility gene for DSPS.

AA-NAT

DSPS

AA-NAT

DSPS


Input: Here, we report monoallelic frameshift or missense mutations and one 3' UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1, 712 controls (P = 4. 1 x 10 (-7)).

systemic lupus erythematosus

systemic lupus erythematosus


Input: Basal RBP4 levels or diet-induced variations of RBP4 were not different in lean women and two groups of obese women with high-and low-insulin sensitivity.

insulin sensitivity


Input: EZH2-induced BRCA1 nuclear export, aneuploidy, and mitotic defects were prevented by treatment with the PI3K inhibitors LY294002 or wortmannin.

aneuploidy


Input: The activity of GUSB in the patient' s serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal.

GUSB

asymptomatic


Input: Nup98-homeodomain fusions interact with endogenous Nup98 during interphase and localize to kinetochores and chromosome arms during mitosis.

arms


Input: Estrogen Sulfotransferase Is an Oxidative Stress-responsive Gene That Gender-specifically Affects Liver Ischemia/Reperfusion Injury.

Estrogen Sulfotransferase

Ischemia/Reperfusion Injury

Estrogen Sulfotransferase

Ischemia/Reperfusion Injury


Input: In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.

GRACILE syndrome

metabolic disorder


Input: Resveratrol has been an ascribed inhibitory effect on glucocorticoid-induced muscle atrophy in vitro, but the influence of resveratrol on the growth of C2C12 myotubes exposed to TNF-& #945; remains unclear.

TNF

muscle atrophy

TNF

muscle atrophy


Input: AEG-1 is up-regulated, at the mRNA and the protein level, during CRC development and aggressiveness, and is related to tumour location and stage.

aggressiveness


Input: Recently, other candidate genes, notably oestrogen receptor, collagen 1alphaI, and PTH receptor genes and a chromosome 11 locus, have been associated with bone density and fracture.

PTH receptor

bone density


Input: Molecular analyses show that loss of CDX2 predominantly altered the expression of genes involved in intestinal glandular differentiation and adhesion.

adhesion


Input: Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

GNS

Sanfilippo syndrome type D

GNS

Sanfilippo syndrome type D


Input: There was a strong negative correlation between inactivation of FoxO4 in RA synovial tissue and increased serum C-reactive protein levels and a raised erythrocyte sedimentation rate in RA patients.

erythrocyte sedimentation rate


Input: Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD.

FASD

FASD


Input: Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.

autoimmune hypothyroidism


Input: Our findings demonstrate that a dominant negative Cx43 mutant deficient in channel formation exhibits a dual pattern of regulation in metastatic melanoma cells with a decrease in anchorage-independent growth and an increase in invasive potential.

metastatic melanoma


Input: We propose that the phenotype of our patient results from the combined effects of mutations in both ASPM and STS that account for the neurological signs and skin manifestations, respectively.

ASPM

skin manifestations


Input: In higher plants mutations and rearrangements in the mitochondrial DNA are believed to cause cytoplasmic male sterility (CMS), a mitochondrially inherited inability to produce viable pollen.

CMS

male sterility


Input: Thus, the TAAAAn polymorphism in SHBG gene was not a determinant of PCOS in this population of Chinese women, whereas, serum SHBG was significantly associated with BMI and insulin resistance in these PCOS patients.

SHBG

insulin resistance


Input: The index case is a woman with a lifelong history of bleeding, found hyperresponsive to ristocetin with spontaneous platelet aggregation (SPA).

SPA

bleeding


Input: Polysomy or trisomy of EGFR was detected by FISH in 30% (14/46).

EGFR

trisomy


Input: These data further corroborate that the B19p6 promoter is erythroid cell-specific and suggest that the recombinant AAV-B19 hybrid vectors may prove useful in gene therapy of human hemoglobinopathies in general and sickle cell anemia and beta-thalassemia in particular.

AAV

sickle cell anemia


Input: To investigate the possible association between ZNF230 gene and azoospermia.

ZNF230 gene

azoospermia


Input: In this study, we established that transgenic or virus vector-mediated complementation with HMGB1 ameliorates motor dysfunction and prolongs lifespan in mutant Atxn1 knock-in (Atxn1-KI) mice.

motor dysfunction


Input: The ERCC1 and ERCC2 genes are important in repairing DNA damage and genomic instability, and are involved in the nucleotide excision repair pathway.

genomic instability


Input: Lipofection-mediated gene transfers were performed with these 3 constructs and a control plasmid, pCDNA3, in 3 human prostate cancer cell lines (LNCaP, DU-145, PC-3) and 5 other cell lines (Cos-1 [monkey kidney], HL-60 [human myeloid leukemia], Hep G2 [human hepatoma], NCI H460 [human lung cancer] and SW 480 [human colon cancer]).

hepatoma


Input: Transcription factor activity of estrogen receptor & #945; activation upon nonylphenol or bisphenol A treatment enhances the in vitro proliferation, invasion, and migration of neuroblastoma cells.

estrogen receptor

neuroblastoma

estrogen receptor

neuroblastoma


Input: In particular, one peripheral T-cell lymphoma (not otherwise specified, NOS) with the morphological variant of Lennert lymphoma displayed a chromosomal translocation t (14; 19) involving the TCRalpha/delta and the BCL3 loci.

chromosomal translocation


Input: Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status.

PORCN

Goltz syndrome

PORCN

Goltz syndrome


Input: In mutation (+) patients PGLs malignancy varied with location, adrenal (6. 4%) thoraco-abdominal E-PGL (38%), H & N E-PGL (10%).

PGLs

malignancy


Input: The CYP1A1 * 2A polymorphism was found to have significant association with chronic obstructive pneumonopathy (p = 0. 045), peripheral circulatory problems (trend p = 0. 042), arteritis (p = 0. 022), allergies (trend p = 0. 046), hemorrhoids (trend p = 0. 026), allergic dermatitis (p = 0. 0016) and miscarriages (p = 0. 012).

miscarriages

miscarriages


Input: Thus, suppression of KCNQ/M channels in primary DRG neurons plays a crucial role in the development of bone cancer pain.

DRG

bone cancer


Input: Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).

VIT

ulcerative colitis


Input: ] on estrogen replacement therapy [ERT]), we assessed whether ERT-mediated thrombophilia and heritable thrombophilia (20210 G--> A prothrombin gene [PTG], Factor V Leiden gene mutation [FV]) interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD).

ERT

cardiovascular disease


Input: In the hippocampus of seizure mice, the expressions of Scn3a and Mbd2 were upregulated after 10-day KA treatment.

seizure


Input: STAT3 has this dual role in tumour inflammation and immunity by promoting pro-oncogenic inflammatory pathways, including nuclear factor-kappaB (NF-kappaB) and interleukin-6 (IL-6)-GP130-Janus kinase (JAK) pathways, and by opposing STAT1-and NF-kappaB-mediated T helper 1 anti-tumour immune responses.

inflammation


Input: In colorectal cancer, loss of PDCD4 has been reported in association with increased tumour aggressiveness and poor prognosis.

aggressiveness


Input: In addition, the thymidine phosphorylase gene (TP) involved in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and three genes involved in chronic pancreatitis-PRSS1, SPINK1 and CFTR-were sequenced in affected patients.

thymidine phosphorylase gene

chronic pancreatitis


Input: In four (15%) of 26 patients with atypical Werner' s syndrome, we noted heterozygosity for novel missense mutations in LMNA, specifically A57P, R133L (in two people), and L140R.

LMNA

atypical Werner' s syndrome

LMNA

atypical Werner' s syndrome


Input: We surmise that high circulating levels of interleukin-6 (and ACTH) may have induced haemorrhagic necrosis of the adrenal glands and accounted for the constitutional symptoms.

necrosis

necrosis


Input: Because the phenotypes of stargazer mice and SCA10 patients were similar, consisting of both cerebellar ataxia and seizures, we hypothesized that CACNG2 was a likely candidate for the SCA10 locus.

cerebellar ataxia


Input: We observed evidence that XRCC1 may modify the effects of smoking (interaction P = 0. 012).

smoking


Input: SULT2B1 expression was significantly higher in colorectal tumor tissues than in normal tissues in the Cancer Genome Atlas (TCGA) database (P & #8201; & lt; & #8201; 1. 0 & #8201; & #215; & #8201; 10 & lt; sup & gt;-4 & lt;/sup & gt;).

colorectal tumor

colorectal tumor


Input: Similar to adiponectin, serum levels of CTRP1 were significantly correlated to several parameters involved in glucose metabolism and insulin resistance, and independently associated with fasting glucose levels (p < 0. 05) after BMI and gender adjustments.

insulin resistance


Input: DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.

colorectal cancer

colorectal cancer


Input: In normal cells, impaired cyclin E degradation produces genome instability, but this is rapidly mitigated by induction of p53 and p21.

cyclin E

genome instability


Input: When phosphorylation is blocked, IkappaBalpha remains intact, thereby blocking NF-kappaB translocation to the nucleus and subsequent activation of antiapoptotic genes that cause TNF-alpha insensitivity.

TNF-alpha

translocation


Input: SNPs at GRB14 were also associated with insulin sensitivity (P = 5. 0 × 10 (-4)), and SNPs at ST6GAL1 and HNF4A were also associated with pancreatic beta-cell function (P = 0. 02 and P = 0. 001, respectively).

insulin sensitivity


Input: Here we found that injection of AgRP into the cerebral ventricles resulted in a gain of body mass and improved metabolic rate regulation in a mouse model of uremic cachexia.

AgRP

cachexia


Input: For oropharyngeal CT (9 infections detected), sensitivities were 44% for culture, 67% for SDA, and 100% for AC2.

SDA

infections


Input: This is the first report showing LOH at the p53 gene locus in a significant number of human VS and both sporadic and NF2 cases show the LOH event.

p53 gene

sporadic


Input: Utility of FISH in the diagnosis of angiomatoid fibrous histiocytoma: a series of 18 cases.

FISH

angiomatoid fibrous histiocytoma


Input: Ubiquitous expression of the Pik3ca (H1047R) mutation throughout the body resulted in a dramatic increase in body weight within 3 weeks of induction (mutant 150 ± 5%; wild-type 117 ± 3%, mean ± sem), which was associated with increased organ size rather than adiposity.

body weight


Input: Sp1 role in the regulation of complex I subunits, was demonstrated by the ability of the Sp1/DNA binding inhibitor, mithramycin, to inhibit the transcription of NDUFV1 and NDUFV2, in neuroblastoma cells.

neuroblastoma


Input: Disruption of this gene was indicated in a patient with a t (8; 17) (p11; q25) and Ph-negative chronic myeloid leukemia in association with systemic malignant mast cell disease, a patient with acute myeloid leukemia with a t (8; 11) (p11; p15), and two cases with T-cell lymphoma, myeloproliferative disorder, and marrow eosinophilia with a t (8; 12) (p11; q15) and ins (12; 8) (p11; p11p21), respectively.

myeloproliferative disorder


Input: These data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.

ID

ID


Input: Immunoreactivity for drebrin and MAP2 in hippocampus CA1 area decreased 7 days after ischemia.

ischemia


Input: Our results suggest that IL-27 can be effective in reducing tumor growth and can help enhance accumulation of effector cells in prostate tumors in vivo.

prostate tumors

prostate tumors


Input: The MPO plasma levels of patients with HCV-HCC were higher in comparison to patients with chronic hepatitis or with those patients with severe fibrosis (p = 0. 01 and p = 0. 04, respectively).

HCC

chronic hepatitis


Input: This study aimed to investigate the expression and genetic variation of PXR in reflux esophagitis (RE), Barrett' s esophagus (BE) and esophageal adenocarcinoma.

PXR

reflux esophagitis


Input: Phosphatidylinositol-3-kinase (PI3K) pathway deregulation is a common event in human cancer, either through inactivation of the tumor suppressor phosphatase and tensin homologue deleted from chromosome 10 or activating mutations of p110-alpha.

tensin

cancer


Input: Here, we investigated the potential roles of early growth response gene-1 (Egr-1), Sp1, nuclear factor-kappaB (NF-kappaB), activator protein-1 (AP-1), and hypoxia-inducible factor-1 (HIF-1) in the hypoxic regulation of tissue factor by glioblastoma multiforme cells in vitro.

hypoxic


Input: Thus, this study emphasizes that IL-4 may be considered as a link between inflammation and collagen deposition observed in asthmatic airways.

inflammation


Input: Imputation analysis refined association between ADAMTSL3 and schizophrenia, and highlighted additional common variants with similar levels of association.

schizophrenia

schizophrenia


Input: The mutation was also detected in two asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium (RPE).

RPE

asymptomatic


Input: Expression of Cx30 and Cx32, at both the mRNA and protein levels, was measured in the hippocampus at the beginning, in the middle (after acquisition of focal seizures), and at the end (after establishment of generalized seizures) of the kindling process, by real-time PCR and Western blot.

focal seizures


Input: The findings suggest an important role for ALR in hepatocellular regeneration in liver cirrhosis as well as in hepatocarcinogenesis and therefore its potential value in the clinical diagnosis of hepatic cirrhosis and cancer.

ALR

hepatocarcinogenesis


Input: A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle' s disease.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: No association between the NAT2 slow acetylator genotype and bladder cancer was found either by crude analyses [odds ratio (OR), 1. 32; 95% confidence interval (CI), 0. 91-1. 92) or by logistic regression analyses adjusted for age, gender, and smoking exposure (OR, 1. 22; 95% CI, 0. 92-1. 62).

smoking


Input: The effect of SHIP2 on tumor growth in vivo was detected by xenograft tumorigenesis assays.

tumorigenesis


Input: This is the first child-based study showing a protective role of the 121Q variant of ENPP1 against overweight/obesity.

overweight


Input: We identified a patient with multifocal mononeuropathies and mild distal neuropathy, growth hormone deficiency, and mild mental retardation who was found to have a duplication of the SMS region of 17p11. 2 and a deletion of the peripheral myelin protein 22 (PMP22) gene within 17p12 on the homologous chromosome.

mild


Input: Here, we analyze the effect of the canonical AS mutations, the D321A PS mutation and the S252L/A315S double mutation on FGFR2 ligand binding affinity and specificity using surface plasmon resonance.

AS

AS


Input: In vivo, the VECad-Nox4 mice had accelerated recovery from hindlimb ischemia and enhanced aortic capillary sprouting.

ischemia


Input: The TIN2 (DC) allele induced mild ATR kinase signaling at telomeres and a fragile telomere phenotype, suggestive of telomere replication problems.

ATR

mild


Input: DPP4 could only be observed in endothelial cells of plaque neovessels in half of the specimens.

plaque


Input: In conclusion, MCP-1 is dynamically regulated in DCM related deterioration of left ventricular function.

left ventricular function


Input: In selected keloid fibroblast cultures, an overproduction of type I procollagen was observed.

type I procollagen

keloid


Input: Two RANTES-403 (G to A) and-28 (C to G), an-1055 IL-13 (C to T), and a-444 (A to C) leukotriene C4 synthase (LTC4S) single nucleotide polymorphisms (SNPs) have been shown in Caucasians and Asians as asthma and atopy risk factors.

RANTES

atopy


Input: Taken together, our results suggest that miR-503 regulates the resistance of non-small cell lung cancer cells to cisplatin at least in part by targeting FANCA.

FANCA

non-small cell lung cancer


Input: We hypothesized that the granule cell hypertrophy in LDD is secondary to activation of mammalian target of rapamycin (mTOR), a downstream effector in the PTEN/AKT pathway and a major regulator of cell growth.

AKT

hypertrophy


Input: Ectopic expression of a plasmid encoding NP73-102, the NH2-terminal peptide of the ANP prohormone which downregulates NPR-A expression, also suppressed lung metastasis of A549 cells in nude mice and tumorigenesis of Line 1 cells in immunocompetent BALB/c mice.

ANP

lung metastasis


Input: Moreover, this mutation could be absent in late-onset FAD and sporadic AD in Japan.

FAD

sporadic


Input: We have investigated the role of interleukin (IL)-21 in colitis-associated colon cancer (CAC), as this cytokine is overexpressed in the gut mucosa of patients with ulcerative colitis (UC), a chronic inflammatory disease associated with colon cancer.

CAC

colon cancer


Input: These results suggest that CRFR1 is involved in the stress-induced exacerbation of chronic contact dermatitis.

contact dermatitis

contact dermatitis


Input: Of 20 informative cases, only one (5%) sporadic MTC showed loss of heterozygosity at the locus RBP3.

sporadic


Input: Serum from nine healthy active smokers (AS) compared with serum from nine non-smokers (NS) showed higher levels of interleukin-1beta (IL-1β) and tumour necrosis factor-alpha (TNF-α) and a greater ability to induce ROS production, p47phox translocation to the plasma membrane, and COX-2 mRNA and protein expression in endothelial cells (ECs).

TNF-α

translocation


Input: Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP).

sporadic


Input: HOXA-10 mRNA and protein expression levels in endometrial stromal cells were significantly lower in infertile patients with different types of endometriosis (deep infiltrating endometriosis, ovarian endometriosis and superficial peritoneal endometriosis), with uterine myoma, and unexplained infertility patients as compared with healthy fertile controls.

HOXA

uterine myoma


Input: There was no 2-bp insertion in exon 29 of both C4A and C4B genes in normal individual and the rest of SLE patients.

SLE

SLE


Input: This study provides evidence that the X-DING-CD4 protein might be developed as a novel biotherapeutic to control LPS-mediated inflammation in advanced HIV disease.

DING

inflammation


Input: Increased levels of extracellular matrix metalloproteinase inducer colocalized with increased matrix metalloproteinases in lymphangioleiomyomatosis cells indicate that it potentially functions in pulmonary lymphangioleiomyomatosis.

extracellular matrix metalloproteinase inducer

pulmonary lymphangioleiomyomatosis


Input: We conclude that somatic mutation of the CYLD1 gene outside the skin can have a role in the oncogenesis of tumors with cylindromatous features.

somatic mutation


Input: Prospectively collected cremaster muscle and/or hernia sac tissues from boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84) were analyzed for hormone receptor (RXFP2, AR, ESR1, ESR2) and myosin heavy chain specific (MYH1, MYH2, MYH7) mRNA expression using real-time reverse transcriptase polymerase chain reaction.

hydrocele