Input: Expression of UCP2, UCP3S, and UCP3L mRNA in skeletal muscle was similar in lean individuals and in individuals with obesity at stable weight.

weight


Input: Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death.

sudden death


Input: Ghrelin is an upstream regulator of the orexigenic peptides NPY and AgRP and acts as a natural antagonist to leptin' s effects on NPY/AgRP-expressing neurons, resulting in an increase in feeding and body weight.

leptin' s

body weight


Input: RESULTS: The mRNA expressions of Notch1, Notch3, Jagged1, and Jagged2 were detected in Tca8113, tongue carcinoma, and adjacent non-neoplastic tongue tissues.

non-neoplastic


Input: Substantial evidence now suggests that alcohol targets Kir2. 1 to cause the birth defects associated with FASD.

Kir2. 1

birth defects


Input: The most common (≥ 20%) adverse reactions were skin reactions, increased aspartate and alanine aminotransferase, proteinuria, and diarrhea.

alanine aminotransferase

proteinuria


Input: Many abnormalities in the surrounding lung associated with field carcinogenesis, which reflect prolonged exposure to such carcinogens as tobacco smoke, also revealed altered expression of CC10.

abnormalities


Input: Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation.

MIM

sex reversal


Input: We showed that miR-23b suppresses PRDX3 protein expression in human DU145 cells under normal and hypoxic conditions.

hypoxic


Input: We mapped a previously unknown susceptibility locus to 2q37. 1 and identified germline mutations in DIS3L2, a homolog of the Schizosaccharomyces pombe dis3 gene, in individuals with Perlman syndrome.

Perlman syndrome

Perlman syndrome


Input: In this secondary analysis, we defined carriers as women having one or more of the following traits: carrier for FVL mutation, protein C deficiency, protein S deficiency, antithrombin III deficiency, activated protein C resistance, or lupus anticoagulant-positive, heterozygous for prothrombin G20210A or homozygous for the 5, 10 methylenetetrahydrofolate reductase mutations.

methylenetetrahydrofolate reductase

lupus anticoagulant


Input: Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis.

SLC9A3 gene

pulmonary function


Input: CD4 (+)/Ki67 (+) T cells; plasma LPS; total, naive, and activated Treg; TLR2-expressing and TLR4-expressing Treg; IL-10 production; and early and late apoptotic CD4 T cells, were significantly increased in patients with undetectable viremia and CD4 cell counts less than 500 cells/microl after more than 7 years of ART.

viremia


Input: The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13. 1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21. 2-q21. 3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26).

MPZ

deafness


Input: Direct methylation of talin, a key regulatory molecule in cell migration, by Ezh2 disrupted the binding of talin to F-actin and thereby promoted the turnover of adhesion structures.

adhesion


Input: The 5-HTT protein coded by the SLC6A4 gene has also been implicated in inflammation.

SLC6A4 gene

inflammation


Input: Total FSH receptor (FSHR) inactivation causes infertility with an early block of follicular maturation remarkably associated with abundant small follicles as in prepubertal ovaries and demonstrates the absolute requirement of FSH for follicular development starting from the primary stage.

FSHR

infertility


Input: Following a 5-wk high-fat diet challenge, neil1 (-/-) mice gained significantly more body weight than neil1 (+/+) littermates and had increased body fat accumulation and moderate to severe hepatic steatosis.

body weight


Input: A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle' s disease.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: The data formally establish the homogentisate 1, 2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk.

homogentisate 1, 2 dioxygenase

alkaptonuria

homogentisate 1, 2 dioxygenase

alkaptonuria


Input: Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

FARSB

brain calcification

FARSB

brain calcification


Input: We report here a rare case of mandibular ES in a 10-year-old child with chromosomal translocation t (21; 22) (q22; q12) in which the EWS gene is fused with the ERG gene on chromosome 21.

EWS gene

chromosomal translocation


Input: Inhibition of Stat3 signaling in Gprc5a (-/-) normal and cancer cells by the Janus-activated kinase 2 inhibitor AG490 or by a dominant negative Stat3 (Y705F) increased starvation-induced apoptosis and inhibited colony formation.

starvation


Input: In this study, we evaluated the efficacy of SAR3419, an antibody-drug conjugate of the maytansinoid DM4 and a humanized anti-CD19 antibody, against B-cell precursor (BCP)-ALL and infant mixed lineage leukemia (MLL) xenografts.

BCP

mixed lineage leukemia


Input: In contrast, tumour characteristics of BRCA2-associated BC were similar to those of non-BRCA1/2 and sporadic BC, with the exception of a high risk of CBC (3. 1% per year) and oestrogen-receptor (ER)-positivity (83%).

sporadic


Input: Effects of GH were significant for fat accretion and plasma urea depression.

GH

depression

GH

depression


Input: Therefore, this study provides further evidence suggesting that piccolo, RIMS2, RIMS3, but not the entire components of the active zone are involved in the neurobiology of schizophrenia.

schizophrenia

schizophrenia


Input: Minocycline increased the survival of CA1 pyramidal neurons from 10. 5% to 77% when the treatment was started 12 h before ischemia and to 71% when the treatment was started 30 min after ischemia.

ischemia


Input: In summary, failure of podocytes to match glomerular tuft growth in response to growth signaling through the mTORC1 pathway can trigger proteinuria, glomerulosclerosis, and progression to ESRD.

proteinuria


Input: For example, genes involved in inflammation and matrix proteases and a cell cycle regulator gene, cyclin D2, were highly expressed in colon cancers.

cyclin D2

colon cancers

cyclin D2

colon cancers


Input: TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.

Li-Fraumeni syndrome

sporadic


Input: In order to extend the analysis of an involvement of the NF2 gene in the sporadic counterparts of these NF2-related tumors, we have used reverse transcriptase-PCR amplification followed by SSCP and DNA sequence analysis to screen for mutations in the coding region of the NF2 gene.

NF2 gene

sporadic


Input: Etanercept, a soluble TNF receptor, and TNFR1 deficiency protected against the depression in diaphragm-specific force caused by doxorubicin.

depression

depression


Input: Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76. 9%) and 14 sporadic cases (21. 5%), accounting for 37. 4% (34/91) of the study population.

sporadic


Input: We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle.

COX

chronic progressive external ophthalmoplegia


Input: To observe the effects of cyclic adenosine monophosphate (cAMP) in peripheral lymphocytes on T helper 1 (TH1)/TH2 cytokine ratios and to investigate the potential impact and mechanism of β-adrenergic receptor antagonists on immune function in patients with chronic heart failure (CHF).

chronic heart failure


Input: We describe novel mutations in the EDAR gene in two Pakistani families affected with the autosomal recessive form of HED.

EDAR

HED

EDAR

HED


Input: Down-regulation of AKT1 and AKT2, but not AKT3, induced activation of cell surface β1-integrins and enhanced adhesion, migration, and invasion.

adhesion


Input: This case report describes two patients with H syndrome, a multisystemic autosomal recessive disorder, caused by mutations in the SLC29A3 gene.

H syndrome

H syndrome


Input: However, contrary to the expectations, GOAT-knockout (KO) mice have not shown meaningful body weight reduction, under high-fat diet.

GOAT

weight reduction


Input: A novel EWS-Fli1 in-frame isoform fusing EWS to exon 8 of Fli1 was isolated from a tumor with a variant t (12; 22; 22) (q14; p1; q12) translocation.

EWS

translocation


Input: We further demonstrated that activation of the mammalian target of rapamycin (mTOR) signaling could suppress neurodegeneration of FXTAS.

mammalian target of rapamycin

neurodegeneration


Input: Indirect calorimetry, tetrapolar electrical bioimpedance, blood pressure and serial assessment of nutritional intake with 3-day written food records and biochemical analysis (lipid profile, visfatin, insulin, C-reactive protein and homeostasis model assessment for insulin sensitivity (HOMA)) were performed.

C-reactive protein

insulin sensitivity


Input: Our study uncovers IL-21 deficiency as a novel cause of early-onset IBD in human subjects accompanied by defects in B-cell development similar to those found in patients with common variable immunodeficiency.

common variable immunodeficiency


Input: To determine the relative level of expression of RECQL4 in OS, 18 sporadic tumors were studied by reverse transcription-polymerase chain reaction.

sporadic


Input: We failed to find an association between either of the Hp alleles and unipolar depression.

Hp

unipolar depression

Hp

unipolar depression


Input: In anti-FRP antibody-positive RA patients, serum C-reactive protein level and erythrocyte sedimentation rate were more elevated than negative patients (P < 0. 05 and P < 0. 01, respectively).

FRP

erythrocyte sedimentation rate


Input: We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in Man (MIM) #272200).

MIM

multiple sulfatase deficiency


Input: We evaluated the association between bladder cancer risk and functional polymorphisms in the GSTM1, GSTT1, and GPX1 genes in 625 cases and 626 matched population-based controls in Egypt and assessed for potential interactions between these candidate genes and environmental exposures, such as smoking and SH infection.

smoking


Input: It also increased both MyD88 and non-MyD88 pathways, nuclear factor-κB (NF-κB), biomediators, and monocyte adhesion.

NF-κB

adhesion


Input: Low expression of p27, a cell cycle regulator haplo-insufficient for tumor suppression, predicted poor outcome in indolent and aggressive lymphoma, and overexpression of cyclin D3 was associated with poor prognosis in indolent lymphomas.

aggressive lymphoma


Input: For the patients with sporadic disease, using p53 and adenomatous polyposis coli (APC), the sensitivity of the fecal DNA analysis was 96. 7% (95% CI, 83-100) with a specificity of 100%.

sporadic


Input: Our study showed a significant association between LMAN2L and risk of both BPD and SZ.

SZ

SZ


Input: A polymorphism in the EGF gene (EGF + 61) may influence its expression and contribute to cancer predisposition and aggressiveness.

EGF

aggressiveness


Input: In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.

Reelin

depression

Reelin

depression


Input: There was no statistically significant difference between BE and EAC, HGD and EAC, or NE and esophageal squamous cell carcinoma (ESCC).

HGD

esophageal squamous cell carcinoma


Input: The results showed that GPNMB was up-regulated after IRI, and that genomic over-expression of GPNMB significantly ameliorated infarct volume.

GPNMB

infarct


Input: U-box protein carboxyl terminus of Hsc70-interacting protein (CHIP) mediates poly-ubiquitylation preferentially on four-repeat Tau and is involved in neurodegeneration of tauopathy.

Hsc70-interacting protein

neurodegeneration


Input: This is the first time a mutation localized outside of the fukutin coding region has been identified as a cause of WWS.

fukutin

WWS

fukutin

WWS


Input: To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.

OI type II

OI type II


Input: Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.

hypertrophic cardiomyopathy

hypertrophic cardiomyopathy


Input: Duration and predictors of CD4 T-cell gains in patients who continue combination therapy despite detectable plasma viremia.

viremia


Input: Furthermore, our animal studies revealed significantly reduced area of cold-induced damage in rats receiving siRNA-Int6, compared to negative controls.

cold


Input: We found that patients with DLBCL with the worst prognosis, according to the outcome predictor score, had decreased expression of catalase, glutathione peroxidase, manganese superoxide dismutase, and VDUP1, a protein that inhibits thioredoxin activity.

catalase

DLBCL

catalase

DLBCL


Input: Our observation of an association between genetic polymorphisms of a protein of the PH domain and psychopathology data in schizophrenic patients might be indicative for an involvement of PLEKHA6 in the pathophysiology of schizophrenia and the therapy response towards antipsychotics.

schizophrenia

schizophrenia


Input: Extracellular matrix (ECM) deposition by human lung fibroblasts (HLFs) is implicated in airway remodeling.

ECM

airway remodeling


Input: As expected, patients with CHD had a worse atherogenic lipoprotein profile (waist-hip ratio, LDL, uric acid, and apolipoprotein B) than the controls.

apolipoprotein B

waist-hip ratio


Input: It is possible that increased beta-amyloid deposition arises from alterations in amyloid precursor protein (APP) metabolism, indeed, we have shown that exposing cells of neuronal origin to chronic hypoxia decreased the secretion of soluble APP (sAPPalpha) derived by action of alpha-secretase on APP, coinciding with a decrease in protein levels of ADAM10, a disintegrin metalloprotease which is thought to be the major alpha-secretase.

APP

hypoxia


Input: The role of GSTP1 was assessed in 131 workers exposed to TDI, 92 with TDI-induced asthma and 39 asymptomatic subjects.

asymptomatic


Input: Osteoclast formation was enhanced approximately 5-fold (P & lt; 0. 001) and bone resorption approximately 10-fold (P & lt; 0. 001) in CED patients, and the increase in osteoclast formation was inhibited by soluble TGFbeta type II receptor.

TGFbeta

CED

TGFbeta

CED


Input: The B-CLL cells in the study were shown to highly express vitamin D receptor, but an additional receptor-independent mechanism of cell killing cannot be ruled out at this stage.

vitamin D receptor

B-CLL

vitamin D receptor

B-CLL


Input: This finding appears related to p53 status in that the frequency of p53 expression was significantly reduced in HNPCCs compared to sporadic cases, suggesting a difference in their molecular pathways of tumorigenesis.

sporadic


Input: Moreover, gastric tumor tissues exhibited a much higher syntenin mRNA expression than their normal counterparts.

syntenin

gastric tumor


Input: The loss of pS2 expression in metaplasia and cancer supports a role for this protein in gastric tumor suppression.

gastric tumor


Input: This study was carried out to evaluate the influence of CYP2D6 polymorphism and smoking on the plasma clearance of haloperidol (HAL) levels, accounting for the antipsychotic dose, body weight, and coadministration of other drugs.

HAL

body weight


Input: Our results was a previous study, which suggested that DNMT1 gene polymorphisms in exons may provide valuable information for predicting the sporadic IDC risk and may be associated with prognosis factors such as PgR and p53 status in Chinese Han women in the Heilongjiang Province.

DNMT1 gene

sporadic


Input: No CD8/MHC-I complex was found in the dermatomyositis or inflammatory muscular dystrophy cases.

dermatomyositis


Input: The lower gene expression, which suggested epigenetic silencing of PEG3, was confirmed statistically in glioblastoma using quantitative reverse-transcription polymerase chain reaction.

glioblastoma


Input: In the present study we used NE transporter knock-out mice (NET-KO), which are characterized by high levels of extracellular NE, to investigate the role of endogenous NE in seizure susceptibility.

NET

seizure


Input: Furthermore, was also investigated the mRNA expression of neuropeptide Y, a considered antiepileptic neuropeptide, in the pilocarpine-induced epilepsy.

neuropeptide Y

epilepsy

neuropeptide Y

epilepsy


Input: Abnormalities of E-and P-cadherin and catenin (beta-, gamma-catenin, and p120ctn) expression in endometrial cancer and endometrial atypical hyperplasia.

P-cadherin

endometrial cancer


Input: DC treatment significantly inhibited the loss of body weight and the increase of liver weight induced by CCl4.

weight


Input: Such mechanisms may be relevant to sporadic as well as familiar breast cancer where BRCA1 and BRCA2 mutations are not present.

sporadic


Input: There were no differences in age or height between the two groups, but weight (P = 0 · 007) and BMI (P = 0 · 001) were lower in MUT/N.

MUT

weight


Input: Therefore, constructs expressing the beta (AS3)-globin gene may be suitable for future clinical trials for sickle cell disease.

sickle cell disease


Input: FGF-2 stimulated DU-145 cell proliferation, whereas neither FGF-2 nor fibrinogen affected the growth of PC-3 or A549 cells.

fibrinogen


Input: We have now examined the relationships of 22 candidate gene polymorphisms with the prevalence of hypertension and with blood pressure (BP) in a 6-year population-based longitudinal cohort study and observed significant relationships of three polymorphisms of SORBS1, GCK and WISP1 with hypertension.

GCK

blood pressure


Input: Reversion was particularly evident for 7 genes: SOCS2, TNFAIP3, NR4A2, CXCR4, POLR2J, FAM49B, and STAG3L1, most of which encode negative regulators of inflammation.

inflammation


Input: We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing.

cystinuria

cystinuria


Input: This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease.

Stargardt disease

Stargardt disease


Input: We report the case of a female suffering from resistant partial seizures, which were related to' cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images.

MRI

epilepsy


Input: Third, a proportion of Sey/+ Smalleye mice, heterozygous for a nonsense mutation in murine Pax-6, have an ocular phenotype resembling Peters' anomaly.

Peters' anomaly

Peters' anomaly


Input: We have investigated the role of ten polymorphisms in these genes (RLN3 rs12327666, rs1982632, and rs7249702, RLN3R1 rs42868, rs6861957, rs7702361, and rs35399, and RLN3R2 rs11264422, rs1018730 and rs12124383) in the occurrence of metabolic syndrome phenotypes (obesity, diabetes, hypercholesterolemia, hypertrigyceridemia, and hypertension) in a cross-sectional cohort of 419 US Caucasian patients treated with antipsychotic drugs.

obesity


Input: Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK.

Folliculin

enlargement


Input: Positive immunolabeling for p53 was observed in 57% of the familial pancreatic cancers and loss of SMAD4 labeling was observed in 61% of the familial pancreatic cancers, rates similar to those observed in sporadic pancreatic cancers.

sporadic


Input: Expressing PDGF-A in neurons under the control of the neuron-specific enolase promoter (NSE-PDGF-A) resulted in a striking hyperplasia of retinal astrocytes, demonstrating that PDGF is secreted from the cell bodies of neurons in the retina [4].

NSE

hyperplasia


Input: True common mutations were identified neither in GSD Ia nor in GSD I non-a patients.

GSD I

GSD Ia

GSD I

GSD Ia


Input: We explore existing guidelines, public attitudes and possible objections to providing PND for minor abnormalities.

PND

abnormalities


Input: Mutations in the genes encoding PTEN-induced kinase 1 (PINK1), Omi/HtrA2 and parkin contribute to rare forms of parkinsonian neurodegeneration.

neurodegeneration


Input: We also confirm the recent report of hypertrophy of the clava (also known as the' gracile tubercle') as a useful MRI sign in INAD.

MRI

hypertrophy


Input: Furthermore, these results implicate the ET-1/ECE-1/ERK1/2 pathway as a therapeutic target to treat pruritus in humans.

pruritus


Input: The positive rate of LIT1, IGF2 and H19 LOI of gastric cancer tissues were 54. 6% (12/22), 45% (18/40) and 8. 6% (3/32) in Chinese patients.

gastric cancer


Input: However, emerging data now highlight that ALK-ALCL is genetically and clinically heterogeneous with a subset having either a DUSP22 translocation and a survival rate similar to ALK + ALCL or a less common P63 translocation, the latter associated with an aggressive course.

translocation


Input: Elevated levels of estrogen and heightened expression of the WNT10B proto-oncogene have been implicated in the development of human malignant breast tumors because they enhance the proliferation of mammary tissue.

breast tumors

breast tumors


Input: Therefore the aim of this study was to investigate the effects of Endokinin A/B (EKA/B, the common C-terminal decapeptide in EKA and EKB) and Endokinin C/D (EKC/D, the common C-terminal duodecapeptide in EKC and EKD) on pain modulation at supraspinal level in mice.

EKB

pain


Input: In patients with heart failure, subjects with Ile-164 showed further severe reduction of beta2-adrenergic-mediated increase in Sm as compared with controls with heart failure (Delta20% (5%) vs Delta39% (4%), p < 0. 05).

heart failure


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

metastasis

metastasis


Input: Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

hypohidrotic ectodermal dysplasia

hypohidrotic ectodermal dysplasia


Input: Moreover, the significant higher levels of XIST-RNA detected in BRCA1-associated respect to sporadic basal-like cancers, opens the possibility to use XIST expression as a marker to discriminate between the two groups of tumors.

XIST

sporadic


Input: We now report that AE2 overexpression in colon cancer cells is correlated with expression of the nuclear proliferation marker, Ki67.

colon cancer


Input: These findings suggest that the preventing effect of Q3GA on Ang II-induced VSMC hypertrophy is attributable in part to its inhibitory effect on JNK and the AP-1 signaling pathway.

JNK

hypertrophy


Input: Accordingly, genetic deletion of Cxcl4 in mice significantly reduced histological and biochemical liver damage in vivo, which was accompanied by changes in the expression of fibrosis-related genes (Timp-1 [tissue inhibitor of matrix metalloproteinase 1], Mmp9 [matrix metalloproteinase 9], Tgf-beta [transforming growth factor beta], IL10 [interleukin 10]).

fibrosis


Input: EGFR mutation was assessed from DNA of 63 paraffin-embedded small needle biopsy/aspiration specimens from 62 patients with NSCLC treated with gefitinib.

EGFR

aspiration


Input: Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection.

GP Ia

hantavirus infection


Input: Genotyping of 1163 European SLE patients and 1482 controls and imputation were performed covering the BLK gene with 158 single-nucleotide polymorphisms.

BLK

SLE

BLK

SLE


Input: Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as " Mild " (controls) or " Severe " (cases), based on renal manifestations.

mild


Input: Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor.

epidermal growth factor receptor

multiorgan failure


Input: Cerebral Cavernous Malformations (CCM/MIM 604214) are vascular malformations characterised by abnormally enlarged capillary cavities without intervening brain parenchyma.

MIM

vascular malformations


Input: Further analyses of transcriptional mechanisms underlying Cyr61 gene expression under hypoxia demonstrated that an AP-1 binding motif within the Cyr61 promoter plays a central role in the hypoxic regulation of Cyr61.

hypoxic


Input: CONCLUSIONS: HER2 positivity was shown in 17% of resected EACs and associated with reduced tumor aggressiveness.

aggressiveness


Input: To assess the expression of p53 in premalignant lesions, we examined by immunohistochemistry benign colorectal adenomas (n = 72, measuring more than 6 mm and less than 95 mm in diameter) from patients without (group I, n = 23) or with (group II, n = 49) concurrent sporadic colorectal carcinomas.

sporadic


Input: Members of the miR-29 family, which include miR-29a, miR-29b and miR-29c, are strong inhibitors of ECM synthesis and fibrosis-associated decreases in miR-29 have been reported in multiple organs.

ECM

fibrosis


Input: However, there have been no reports of the expression of PTGFR in the tumor vessels of renal cell carcinoma (RCC).

PTGFR

tumor


Input: TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis.

abnormalities


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

NF--L

major depression

NF--L

major depression


Input: This suggests that loss of T-cell reactivity may not be directly linked to HIV-specific CD4 (+) T-cell responses but that increased viremia after CTL escape may influence CD4 (+) T-helper responses.

viremia


Input: We have previously reported that the phorbol ester, 12-O-tetradecanoyl phorbol 13-acetate (TPA) induces, in the TT cell line of human medullary thyroid carcinoma, decreased cellular proliferation, increased calcitonin secretion, and enhanced calcitonin gene transcription (deBustros, A., Baylin, S. B., Berger, C. L., Roos, B.

TPA

medullary thyroid carcinoma


Input: Endonuclease V (denV) from bacteriophage T4 has been examined for its ability to complement the repair defect in Cockayne syndrome (CS) cells of complementation groups A and B. CS is an autosomal recessive disorder characterized by hypersensitivity to UV light and a defect in the preferential repair of UV-induced lesions in transcriptionally active DNA by the nucleotide excision repair (NER) pathway.

Endonuclease V

hypersensitivity


Input: Since it is important to examine these associations in as many populations as possible, we investigated APOE, APOC1, APOC2, alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) polymorphisms in a series of elderly patients with late-onset sporadic AD from Northern Italy and in a sex and age-matched control group.

ACT

sporadic


Input: To investigate whether CHRNA4 and APOE genotypes influence retinal nerve fibre layer (RNFL) thickness at the optic disc, intraocular pressure (IOP) and the development of exfoliation syndrome (XFS).

exfoliation syndrome


Input: We have shown here that HNF1beta can overcome the enlargement and the induction of an ectopic pronephros mediated by overexpression of Pax8 and lim1.

enlargement


Input: More than two hundred characterized 21-hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A).

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: Redox homeostasis and cellular stress response in aging and neurodegeneration.

cellular stress response

neurodegeneration


Input: These results were supported by cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity.

MYOCD

megabladder

MYOCD

megabladder


Input: In conclusion, telmisartan treatment attenuates vascular hypertrophy in SHR by the modulation of ACE2 and profilin-1 expression with a marked reversal of ERK1/2 and JNK phosphorylation signaling pathways.

JNK

hypertrophy


Input: Therefore, calcium or phosphorus depletion, as well as chronic kidney failure, regulate the interaction of KSRP and AUF1 with PTH mRNA and its half-life.

KSRP

chronic kidney failure


Input: Given the growing body of evidence that the syntenic region of human chromosome 9p and human MPDZ gene are associated with alcohol abuse, our results may facilitate research on alcohol dependence and associated withdrawal in clinical populations.

MPDZ

alcohol abuse

MPDZ

alcohol abuse


Input: We have also shown that microglia from p53-deficient mice fail to induce neurotoxicity in response to the HIV coat protein gp120 in a coculture system, supporting the hypothesis that p53 plays a pathogenic role in the chronic neuroinflammatory component of HIV-associated neurodegeneration.

neurodegeneration


Input: LACE is a good candidate for BP; it is an ATPase.

ATPase

BP

ATPase

BP


Input: In summary, our data suggest a novel mechanism whereby SDHD germline variants SDHD-G12S or SDHD-H50R induce thyroid tumorigenesis mediated by PTEN accumulation in the nucleus and may shed light on potential treatment with SRC inhibitors like bosutinib in PTEN-wild-type SDHD-variant/mutation positive CS/CSL patients and sporadic thyroid neoplasias.

SDHD

tumorigenesis


Input: We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c. 649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases).

sporadic


Input: Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.

blue-sensitive opsin

tritanopia

blue-sensitive opsin

tritanopia


Input: Transgenic mice expressing human stratum corneum chymotryptic enzyme in suprabasal epidermal keratinocytes were found to develop pathologic skin changes with increased epidermal thickness, hyperkeratosis, dermal inflammation, and severe pruritus.

stratum corneum chymotryptic enzyme

pruritus


Input: A significant negative correlation exists between miR-101 or miR-217 and MALAT1 in 42 pairs of ESCC tissue samples and adjacent normal tissues.

ESCC

ESCC


Input: In the PHPT group, no statistical associations were found between different allelic distribution and age, creatinine, hematocrit, phosphorus, alkaline phosphatase (ALP), total calcium, serum parathyroid hormone (PTH), or gland weight.

PTH

weight


Input: Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.

neurodegeneration


Input: Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort.

microcephaly-lymphedema-chorioretinal-dysplasia

microcephaly-lymphedema-chorioretinal-dysplasia


Input: In this study, we investigated its role in colorectal carcinogenesis and searched for genes regulated by MRGBP.

MRGBP

carcinogenesis


Input: The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c. 586C & gt; T p. R196 *.

bulbous nose

bulbous nose


Input: The thick calvarium and thick skin were clues to the clinical diagnosis of MS. A heterozygous mutation in the mothers-against-DPP homolog 4 (SMAD4) gene has been reported to cause MS. We sequenced SMAD4 using standard PCR-based technique and identified a recurrent mutation (p. Ile500 Thr).

DPP

thick skin


Input: Renal hypouricemia (MIM 220150) is an inherited disorder characterized by low serum uric acid levels and has severe complications such as exercise-induced acute renal failure and urolithiasis.

MIM

urolithiasis


Input: These findings suggests that hyperhexosemia and diabetes causes upregulation of ET-1, FN and EDB (+) FN at the transcriptional level in the retina and kidney via a signaling pathway mediated by PARP and an epigenetic mechanism involving p300 and MEF2 transcription factors.

EDB

diabetes


Input: The long-term TMZ-treated astroglioma cells, but not the Hs683 oligodendroglioma cells, developed in vivo a certain level of resistance to TMZ, which correlated with the up-regulation of CXCL2, CXCL3 and CXCL8 expression in the U373 and T98G astroglioma cells.

oligodendroglioma


Input: Furthermore, CD44 ablation enhanced the effect of chemotherapeutic drugs in p53-deficient or hypoxic cancer cells.

hypoxic


Input: Hox genes are implicated in hematopoietic stem cell (HSC) regulation as well as in leukemia development through translocation with the nucleoporin gene NUP98.

translocation


Input: The development of disturbed substrate utilization of FASN transgenic cardiomyocytes and signs of heart failure were retarded by the transgenic expression of GRKInh, a peptide inhibitor of GRK2.

FASN

heart failure

FASN

heart failure


Input: Increased atherosclerosis in hyperlipidemic mice deficient in alpha-tocopherol transfer protein and vitamin E.

alpha-tocopherol transfer protein

atherosclerosis

alpha-tocopherol transfer protein

atherosclerosis


Input: XP2NI had mild skin symptoms and the cells were slightly less sensitive to UV radiation than the cells of typical severe XPA patients who have the splicing mutation in intron 3 homozygously.

XPA

mild


Input: Only one bFGF isoform (17. 8 kd) was found in idiopathic pulmonary fibrosis and chronic beryllium disease lung tissues and interacted with heparin-like molecules in the lung.

bFGF

pulmonary fibrosis

bFGF

pulmonary fibrosis


Input: Our data suggest that the alterations in nuclear and mitochondrial activation of STAT3 and caveolae localization of caveolin-3 are related to the development of the catecholamine-induced cardiac hypertrophy.

cardiac hypertrophy

cardiac hypertrophy


Input: The groups did not differ significantly with respect to anthropometric measures, glucose tolerance, fasting and 2 h plasma insulin levels during OGTT, estimated peripheral insulin resistance, peripheral blood mononuclear cell or fibroblast telomere length, DNA damage or senescence in vitro, plasma NMR lipoprotein profiles or levels of high-sensitivity C-reactive protein.

C-reactive protein

insulin resistance


Input: Other tumors express increased CCND2, either with or without a t (4; 14) translocation.

translocation


Input: TER was reduced in ALI cultures from patients with CRS with nasal polyps.

TER

nasal polyps


Input: The implication of specific polymorphisms at the GSTP1 locus in airway inflammation is entirely novel: however, GST are recognized as a supergene family of enzymes critical in 1) cell protection from the toxic products of ROS-mediated reactions, 2) modulation of eicosanoid synthesis.

inflammation


Input: MCSP can stimulate the integrin-alpha4 beta1-mediated adhesion and spreading of melanoma cells.

MCSP

adhesion


Input: Lack of association between ApoE gene polymorphism and Type 2 diabetic foot ulcers might be due to ethnic differences.

ApoE gene

diabetic foot ulcers


Input: Disruption of GIP/GIPR axis in human adipose tissue is linked to obesity and insulin resistance.

GIP

insulin resistance


Input: These include probes for all three genes whose polypeptide products combine to form the fibrinogen molecule as well as probes for the prothrombin, Factor IX, Factor VIII, and antithrombin III genes.

antithrombin III

fibrinogen


Input: FCGR3B copy number variation is associated with systemic lupus erythematosus risk in Afro-Caribbeans.

systemic lupus erythematosus

systemic lupus erythematosus


Input: Ongoing clinical trials will evaluate whether immunosuppression of the cadaveric organ donor before organ harvest will have the potential to reduce inflammation in the transplant kidney and subsequently lead to a reduction in the rate of ARF.

ARF

inflammation


Input: We found that thrombin-induced COX-2 expression, PGE2 release and cardiomyocyte hypertrophy markers (increase in ANF/BNP, α-actin expression and cell surface area) was attenuated by pretreatment with CORM-2 which was partially reversed by hemoglobin (Hb) or ZnPP (an inhibitor of HO-1 activity), suggesting that HO-1/CO system may be of clinical importance to ameliorate heart failure through inhibition of inflammatory responses.

ANF

heart failure


Input: Data also suggest that α2δ-1 targeting is a novel strategy that may be used to reverse pathological CaV1. 2 channel trafficking to induce cerebrovascular dilation in hypertension.

CaV1. 2

dilation


Input: A Pitrm1 (+/-) heterozygous mouse showed progressive ataxia associated with brain degenerative lesions, including accumulation of Aβ-positive amyloid deposits.

amyloid deposits


Input: In addition, the number of retrogradely labeled neurons from the dura expressing HCN1 and HCN2 was significantly increased to 247% (HCN1) and 171% (HCN2), three days after inflammation.

inflammation


Input: (CCTTT) n repeat polymorphism in the NOS2 gene promoter is associated with atopy.

NOS2 gene

atopy


Input: Ala114Val and Ile105Val polymorphisms genotypes of GSTP1 gene, bone mineral density (BMD) values of total hip (_th), femoral neck (_fn) and lumbar spine (_ls), plasma osteocalcin (OC), serum bone alkaline phosphatase (BALP), free soluble RANKL and serum osteoprotegerin (sOPG) concentrations were determined.

RANKL

bone mineral density


Input: Tsc1 +/-mice show social and cognitive deficits in the absence of apparent cerebral pathology and spontaneous seizures.

cognitive deficits

cognitive deficits


Input: The evidence suggests that ANKRD7 and CYTL1 genes may play an important role in the variance in AD risk.

AD

AD


Input: In conclusion, EBI3 gene rs4740 polymorphism is closely associated with susceptibility to PTB and the elevation and enrichment of EBI3 in the lung which at least partially derived from macrophages may contribute to the exacerbation of mycobacterial infection.

PTB

mycobacterial infection


Input: Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome.

sporadic


Input: We have investigated the effect of partial or total transcortin deficiency using transcortin knockout mice on hypothalamus-pituitary-adrenal axis functioning and regulation as well as on behaviors linked to anxiety and depression traits in animals.

transcortin

depression

transcortin

depression


Input: Patients with anti-MDA5 antibodies also had an increased risk of oral pain and/or ulceration, hand swelling, arthritis/arthralgia, and diffuse hair loss.

arthralgia


Input: Class I to III histone deacetylases differentially regulate inflammation-induced matrix metalloproteinase 9 expression in primary amnion cells.

matrix metalloproteinase 9

inflammation

matrix metalloproteinase 9

inflammation


Input: Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.

RET proto-oncogene

familial medullary thyroid cancer

RET proto-oncogene

familial medullary thyroid cancer


Input: The messenger RNA expression of dendritic cell nuclear protein-1 appeared to be increased in the laser micro-dissected paraventricular nucleus of patients with depression compared with control subjects.

dendritic cell nuclear protein-1

depression

dendritic cell nuclear protein-1

depression


Input: By single nucleotide polymorphism arrays, uniparental disomy on chromosome 5q, 8q, 11p, and 17p was found in AP and BP but not involving 4q24 (TET2) or 11q23 (CBL).

CBL

uniparental disomy


Input: ChIP assays demonstrate that HIF1A binds to these HRE elements in the promoter region, and luciferase reporter assays using the WASF3 gene minimal promoter shows that hypoxia results in its upregulation.

WASF3 gene

hypoxia


Input: In addition, rIL-17A induced rat pancreatic acinar cell necrosis and promoted expression of several target genes, including IL-6, IL-1β, CXCL1, CXCL2, and CXCL5, in acinar cells and PSCs.

necrosis


Input: Transient forebrain or global ischemia induces delayed neuronal death in vulnerable CA1 pyramidal cells with many features of apoptosis.

ischemia


Input: Based on these findings, the carcinogenesis of RER positive nonfamilial colorectal carcinoma is considered different from that of HNPCC:

RER

carcinogenesis


Input: Recent studies have demonstrated that the leukemia cells from a subset of patients with ATL express Foxp3, a specific marker for CD25 + CD4 + regulatory T (Treg) cells, which regulate the immune response by suppressing CD4 + T cell functions.

leukemia


Input: Analysis of hypoxia-induced gene expression revealed that PLD2 deficiency disrupted the upregulation of hypoxia-inducible factor-1α target genes, including VEGF, PFKFB3, HMOX-1, and NTRK2.

hypoxia


Input: Thus, SPA hyperthermia may protect rats against neurogenic inflammation through modulation of HSP expression.

SPA

hyperthermia


Input: Future studies are needed to further elucidate the role of soluble and membrane-expressed LST1 in the regulation of mucosal intestinal immunity and inflammation as well as to reveal possible therapeutic implications.

inflammation


Input: Mutations in the DNA mismatch repair (MMR) gene hMSH2 underlie a novel pathway of tumorigenesis for some cancers of epithelial origin.

MMR

tumorigenesis


Input: Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL.

B-CLL

B-CLL


Input: Genetic and biochemical data together favor the view that physiological progerin production is under tight control of a conserved splicing mechanism to avoid precocious aging.

progerin

aging


Input: We investigated NSD1 and GPC3 deletions or mutations, 11p15 abnormalities, and 22qter deletions.

abnormalities


Input: Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease.

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28


Input: METHODS: Immunohistochemical analysis was performed on 138 gastric carcinoma specimens, their paired adjacent mucosa specimens, 102 paired lymphatic metastatic carcinoma tissue specimens, 30 dysplasia specimens, 30 intestinal metaplasia specimens, 10 chronic superficial gastritis specimens and 5 normal gastric mucosa specimens for Skp2 expression and on 138 gastric carcinoma specimens for p27 and PTEN expression.

metastatic carcinoma


Input: ErbB3 was upregulated in 34%, and ErbB4 is downregulated in NF2-related VS. Of EGF receptor (EGFR) ligands, EGF was upregulated in all NF2-related VS, but none of the sporadic VS (p < 0. 01), and transforming growth factor alpha and beta-cellulin showed upregulation in 67% of NF2-related VS but not sporadic VS (p = 0. 02 and p = 0. 01, respectively).

EGFR

sporadic


Input: JUN and two of the miRNA targets (CCND2 and PTPN1) in the network have previously been associated with schizophrenia.

schizophrenia

schizophrenia


Input: In 79 patients with prostate cancer, 23 patients with benign prostatic hyperplasia, and 44 healthy individuals plasma TFF1, TFF2, and TFF3 were determined with ELISAs and compared with clinical stage and prostate-specific antigen (PSA) values.

benign prostatic hyperplasia


Input: Among 123 primary and metastatic melanoma tumors and 12 normal skin samples, RUNX3 expression was significantly down-regulated in primary melanomas (n = 82; P = 0. 02) and in melanoma metastasis (n = 41; P < 0. 0001) versus normal skin (n = 12).

metastatic melanoma


Input: To explore the effects of atrial natriuretic peptide (ANP) upon the activities of Na (+), K (+)-ATPase, Ca (2 +)-ATPase and mRNA expression levels of Na (+), K (+)-ATPase alpha (1)-subunit and plasma membrane Ca (2 +)-ATPase isoform 1 (PMCA1) in cultured thoracic aortic vascular smooth muscle cells (ASMCs) isolated from spontaneously hypertensive rats (SHR).

ANP

thoracic


Input: Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome


Input: Carrier cells delivering a conditionally replicating adenovirus (CRAd), which selectively replicates in tumor cells and induces tumor cell lysis, have promising potential for treatment of cancer because CRAd-loaded carrier cells evade inhibition by neutralizing anti-adenovirus (Ad) antibodies and because the carrier cells are locally retained at the injection point after local injection.

CRAd

cancer


Input: To determine whether these discrepancies can be explained by changes in monocyte subsets, the expression of CD14 and CD16 was evaluated in tuberculosis patients and healthy controls; additionally, some markers related to the mononuclear phagocytes maturation, differentiation and function, such as CD1a, CD1c, CD11b, CD11c, CD13, CD33, CD36, CD40, CD64, CD68, CD80, CD83, CD86, HLA-DR, CCR2, CCR5, and non-specific esterases (NSE) were determined in monocyte subsets.

tuberculosis


Input: Recently, the t (5, 9) (q33; q22) translocation was found in a subset of peripheral T cell lymphomas and was shown to result in an IL-2-inducible kinase-spleen tyrosine kinase (ITK-Syk) fusion transcript.

translocation


Input: The aims of this study were to investigate whether tobacco smoke exposure increases the level of inflammation biomarkers and the GSTM1 and GSTP1 gene polymorphisms are associated with inflammatory response due to tobacco smoke exposure.

GSTP1 gene

inflammation


Input: Serum from treated mice was used to screen an AGN2a cDNA expression library that was constructed with lambda ZAP express vector in order to identify tumor-associated antigens by SEREX.

ZAP

tumor


Input: Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

infantile bilateral striatal necrosis

infantile bilateral striatal necrosis


Input: Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.

abnormalities


Input: When GBM-derived neurosphere cultures are grown in 1% oxygen, hypoxia-inducible factor 1alpha (HIF1alpha) protein levels increase dramatically, and mRNA encoding other hypoxic response genes, such as those encoding hypoxia-inducible gene-2, lysyl oxidase, and vascular endothelial growth factor, are induced over 10-fold.

lysyl oxidase

hypoxia


Input: Interleukin 10 mitigates the development of the zymosan-induced multiple organ dysfunction syndrome in mice.

Interleukin 10

multiple organ dysfunction syndrome

Interleukin 10

multiple organ dysfunction syndrome


Input: Shared clinical features in this group of patients include microcephaly, prenatal onset growth restriction, heart defects, tracheoesophageal fistula, and esophageal atresia (TEF/EA), skeletal anomalies, and moderate to severe global developmental delay.

TEF

heart defects


Input: In the present study, we investigated the role of Apolipoprotein E gene polymorphism and the signal peptide polymorphism in alpha-1 antichymotrypsin (ACT) gene in idiopathic sporadic PD.

ACT

sporadic


Input: These results provide additional evidence that GABRB3 and MAOB/NDP gene regions might constitute risk factors for hallucinations and delusions in schizophrenia.

NDP

schizophrenia

NDP

schizophrenia


Input: We identified alterations in the mRNA level of a wide range of genes, including some that are involved in Wnt signalling (Wnt5a, Wif1, Dixdc1, Wnt11, Ccnd1, and Ccnd2), although we did not observe nuclear localization of β-catenin in over 93 human PJS intestinal polyps or in 24 gastric polyps from Lkb1 (+/-) mice.

β-catenin

gastric polyps


Input: Sera from patients with streptococcal infections, acute glomerulonephritis, and ARF were reactive with the recombinant 67-kDa protein.

ARF

acute glomerulonephritis


Input: Computer-assisted quantification revealed a significant increase in A beta 42, but not A beta 40, burden in the brains from 4 PS1-FAD patients compared with those from 12 sporadic AD patients.

FAD

sporadic


Input: A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.

achondrogenesis type II

achondrogenesis type II


Input: We observed that hypoxia impaired spatial learning and memory in the APP/PS1 mouse.

APP

hypoxia


Input: OESCs showed increased expression of aromatase, HSD17β1, STS, and EST, along with decreased HSD17β2 expression, when compared with stromal cells from normal endometria without endometriosis (NESCs) (P < 0. 01) or stromal cells from homologous endometrium (EESCs) (P < 0. 01).

EST

endometriosis


Input: Tissue factor pathway inhibitor-2 as a frequently silenced tumor suppressor gene in hepatocellular carcinoma.

Tissue factor pathway inhibitor-2

hepatocellular carcinoma

Tissue factor pathway inhibitor-2

hepatocellular carcinoma


Input: Among the 114 patients with CALR mutations, 51 (45%) displayed type-1 and 44 (39%) type-2 variants; compared to mutant JAK2, both variants were associated with higher platelet and lower hemoglobin and leukocyte counts.

hemoglobin


Input: kappa-opioid receptor antagonists such as nor-Binaltorphimine (nor-BNI) have been shown to produce antidepressant-like behavioral effects in animal models of depression.

kappa-opioid receptor

depression

kappa-opioid receptor

depression


Input: This work shows that NLRX1 serves as a tumor suppressor in colitis-associated cancer (CAC) and sporadic colon cancer by keeping key tumor promoting pathways in check.

CAC

colon cancer


Input: However, this line did possess a truncating mutation in one allele of CDX2, a gene whose inactivation has recently been shown to cause colon tumorigenesis in mice.

tumorigenesis


Input: There is enhanced mRNA expression of the HERV-K10 gag region in rheumatoid arthritis compared with osteoarthritis or healthy controls.

osteoarthritis


Input: Familial density of alcoholism predicted an earlier onset of drinking, as did having deficits in reading achievement, reduced P300 (visual and auditory), and greater postural sway for age.

drinking


Input: Danger signals released by innate immune cells activate a Th1 and Th17 response that leads to synovitis, enthesitis, axial inflammation, and altered bone homeostasis characterized by pathologic bone resorption and new bone formation.

inflammation


Input: We analyzed whether six different genetic variants within and surrounding PINK1 contribute to the risk of sporadic PD in a Finnish case-control series.

sporadic


Input: We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct sequencing of all 26 exons of the SLC12A3 gene.

GS

GS


Input: Evaluation of " increased " hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.

hemoglobin


Input: Analysis of familial cancer syndromes and sporadic cases has strongly implicated both p53 and pRb in its pathogenesis; however, the relative contribution of these mutations to the initiation of osteosarcoma is unclear.

sporadic


Input: The PBGD gene of 18 Swiss AIP patients was analyzed by denaturing gradient gel electrophoresis screening of the genomic DNA and direct sequencing.

PBGD

AIP

PBGD

AIP


Input: Upon transfection with a cytomegalovirus-promoter-driven expression vector encoding the CD95 gene, CD95L (high) melanoma cells underwent apoptosis at a much higher level than CD95L (low) melanoma cells.

cytomegalovirus


Input: Features typical of CBS included early age of presentation (< 1 year) in 3 (25%), polyuria/dehydration in 4 (33%), growth retardation in 3 (25%), hypercalciuria (urinary calcium/creatinine mmol/mmoverline > 0. 55) in 4 (33%) and nephrolithiasis in 1 (8%).

CBS

growth retardation


Input: Overall, each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1).

mood disorders

mood disorders


Input: Upregulation of MIF, CD74 and TLR4 are associated with increasing clinical stage and provide an opportunity as novel gastric cancer chemoprevention and/or treatment strategy.

MIF

gastric cancer


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

sporadic


Input: The present demonstration that Jun-like immunoreactivity accumulates in CA1 neurons after brief ischemia indicates that widespread changes in gene expression, expected as a consequence of such primary effects on transcription factor activity, are likely to contribute to the phenomenon of induced ischemic tolerance and to other persistent changes in the brain following diverse insults.

ischemia


Input: We have observed elevated NF-kappaB DNA-binding activity in nuclear extracts from human papillomavirus type 6-and 11-infected laryngeal papilloma tissues.

NF-kappaB

laryngeal papilloma


Input: smoking and polymorphisms in the genes involved in the metabolism of genotoxic carcinogens (EPHX1, GSTA1, GSTM1, GSTP1, GSTT1, NAT1, NAT2 and NQO1) or DNA repair (APE1, NBS1, XPC, XPD, XRCC1, XRCC3 and XRCC4), could modify the association between telomere length and cancer risk.

smoking


Input: In experimental diabetes, MCP-1 was overexpressed within the glomeruli and the absence of MCP-1 reduced both albuminuria and downregulation of nephrin and synaptopodin.

synaptopodin

diabetes


Input: We developed a diagnostic gene panel for targeting all known genes encoding proteins in the GPI-anchor-synthesis pathway to screen individuals matching these features, and we detected three missense mutations in PGAP2, c. 46C & gt; T, c. 380T & gt; C, and c. 479C & gt; T, in two unrelated individuals with hyperphosphatasia with mental retardation syndrome (HPMRS).

hyperphosphatasia with mental retardation

hyperphosphatasia with mental retardation


Input: The histopathological and immunohistochemical staining results indicated that SAC was able to effectively suppress the tumour growth and progression of oral cancer in vivo.

SAC

oral cancer


Input: MIF represents a novel and important modulator of cystitis.

MIF

cystitis


Input: This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.

GBE

GSD-IV

GBE

GSD-IV


Input: The APOE genotypes distributed similarly in the 94 shunt responsive and 16 non-responsive iNPH patients and healthy controls.

APOE

shunt


Input: Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Blepharophimosis syndrome

Blepharophimosis syndrome


Input: These findings indicate that the t (4; 14) (p16. 3; q32) represents a novel, recurrent chromosomal translocation in MM, and suggest that the FGFR3 gene may be the target of this abnormality and thus contribute to tumorigenesis in MM.

FGFR3 gene

tumorigenesis


Input: Iron regulatory proteins 1 and 2 (IRP1, IRP2) are key determinants of uptake and storage of iron by the liver, and are responsive to oxidative stress and hypoxia potentially at the level of both protein concentration and mRNA-binding activity.

hypoxia


Input: The current study was designed to analyze DNA methyltransferase expression by immunohistochemistry in a series of 94 Tunisian sporadic breast carcinomas.

DNA methyltransferase

sporadic


Input: In general, " mit-" mutations are responsible for non-RRF encephalopathies, while " syn-" and " rho-" mutations are associated with mitochondrial encephalomyopathies with RRF.

RRF

encephalopathies


Input: Therefore, we hypothesized that the expression of CTGF might be modulated under hypoxic conditions.

CTGF

hypoxic


Input: 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease.

COACH syndrome

COACH syndrome


Input: Successful self-cleavage of 2A-peptide induced synergistic antitumor effect in the liver of H-ras12V, the HCC model mice, by simultaneous activation of LETM1 (Leucine zipper/EF hand-containing transmembrane-1) and CTMP (carboxyl-terminal modulator protein).

CTMP

HCC

CTMP

HCC


Input: TPH1, MAOA, serotonin receptor 2A and 2C genes in citalopram response: possible effect in melancholic and psychotic depression.

MAOA

psychotic depression

MAOA

psychotic depression


Input: We conclude that down-regulation of AIP and AHR may be involved in the aggressiveness of somatotrophinomas.

AHR

aggressiveness


Input: We investigated whether RBP4 adipose tissue mRNA expression and plasma level are related to insulin sensitivity during a diet-induced weight loss.

insulin sensitivity


Input: Human U87 astrocytoma cell invasion induced by interaction of βig-h3 with integrin α5β1 involves calpain-2.

astrocytoma


Input: In this study, we searched the plectin expression in 25 cases of colorectal adenocarcinoma and 10 cases of tubular adenoma with focal adenocarcinoma by immunohistochemical method.

plectin

tubular adenoma


Input: In conclusion a common haplotype in NAPEPLD, an enzyme involved in endocannabinoid synthesis, was protective against obesity.

NAPEPLD

obesity


Input: Absence of quasi-morphine withdrawal syndrome in adenosine A2A receptor knockout mice.

adenosine A2A receptor

withdrawal syndrome

adenosine A2A receptor

withdrawal syndrome


Input: Taking mosaic somatic mutation of PHEX into consideration is strongly suggested in genetic counseling and etiology research for XLHR.

PHEX

somatic mutation


Input: Ethylmalonic encephalopathy is an autosomal recessive, invariably fatal disorder characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective cytochrome c oxidase (COX) in muscle and brain, high concentrations of C4 and C5 acylcarnitines in blood and high excretion of ethylmalonic acid in urine.

COX

chronic diarrhea


Input: Our results establish DAXX as a pro-survival protein in PCa and reveal that, in the early stages of tumorigenesis, autophagy suppresses prostate tumor formation.

DAXX

tumorigenesis


Input: A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: We found stronger associations between several smoking variables and alcohol intake and lung cancer risk among GPX1 (TT) carriers than among GPX1 (CC) and GPX1 (CT) carriers.

smoking


Input: Respiratory tract infections with nontuberculous mycobacteria (NTM) are increasing in prevalence and are a significant cause of lung function decline in individuals with cystic fibrosis (CF).

NTM

cystic fibrosis


Input: Our findings demonstrate that synthesis of very long chain ceramides by CerS3 is a crucial early step for the skin barrier formation and link disorders presenting with congenital ichthyosis to defects in sphingolipid metabolism and the epidermal lipid architecture.

congenital ichthyosis

congenital ichthyosis


Input: IMP3, CK8/18, and CK14 positivity were present in 20 (51%), 22 (56%), and 14 (36%) of 39 BRCA-mutated breast carcinomas, and 11 (20%), 53 (98%), and 24 (44%) of 54 sporadic breast carcinomas respectively.

sporadic


Input: Papillary renal carcinoma (PRC) comprises about 10% of all kidney epithelial tumors.

PRC

renal carcinoma


Input: High expression of WNT7A and FGF1 are correlated in ovarian carcinomas and poor overall patient survival.

ovarian carcinomas

ovarian carcinomas


Input: The relationship between ERK, akt mRNA, PI3K and cell vulnerability to betaGBP challenge was sustained both in mammary ductal cells forced to mimic an aggressive behaviour and in non-aggressive breast cancer cells undergoing an enforced shift into an aggressive phenotype.

aggressive behaviour


Input: We report that GPRC5B-deficient mice were protected from diet-induced obesity and insulin resistance because of reduced inflammation in their white adipose tissue.

inflammation


Input: Of the astrocytoma associated hypermethylated genes, the methylation pattern of the CDH13, cyclin a1, DBCCR1, EPO, MYOD1, and p16INK4a genes changed in no more than 5. 66% (3/53) of astrocytoma tissues compared to non-astrocytoma controls, while the RASSF1A, p73, AR, MGMT, CDH1, OCT6, MT1A, WT1, and IRF7 genes were more frequently hypermethylated in 69. 8%, 47. 2%, 41. 5%, 35. 8%, 32%, 30. 2%, 30. 2%, 30. 2% and 26. 4% of astrocytoma tissues, respectively.

astrocytoma


Input: The rs10788972 variant of the transcription elongation factor A (SII) N-terminal and central domain containing 2 (TCEANC2) gene in the PARK10 region was recently identified to be strongly related to sporadic PD in the American population.

sporadic


Input: Seventy-eighty patients with ocular AD and 282 healthy control subjects were enrolled in an investigation of the association between the atopy-related genes (FCERB, IL13, and IFNGR1) and ocular AD.

atopy


Input: Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.

Dedicator of cytokinesis 8

developmental disabilities

Dedicator of cytokinesis 8

developmental disabilities


Input: Since IL4 and IL13 both serve as ligands for a receptor composed, in part, of the IL4R alpha chain, we looked for potential epistasis between polymorphisms in the IL4R locus on chromosome 16p11 and the five SNPs in the IL4 and IL13 loci on chromosome 5q31 and found, through use of a logistic-regression model, significant gene-gene interactions (P =. 045, corrected for multiple comparisons by permutation analysis).

regression


Input: In the present study, we investigated the incidence of allelic imbalance at the BRCA1, BRCA2 and TP53 loci, in 82 sporadic breast carcinomas using a bank of highly polymorphic microsatellite markers located at the BRCA1, BRCA2 and TP53 regions.

sporadic


Input: The aim of this study was to determine the potential cochlear protective effect of Bcl-x (L) as a therapeutic agent in the murine model of aminoglycoside ototoxicity.

Bcl-x

ototoxicity


Input: SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome

pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome


Input: In mice those lack an active PC2, exacerbated brain injury was observed after an otherwise non-lethal focal ischemia.

ischemia


Input: To verify the targeting and effectiveness of GOLPH2-regulated oncolytic adenovirus GD55 in HCC, the anticancer capacity was investigated in HCC cell lines and animal model.

HCC

adenovirus


Input: Genotype/allele frequencies in C1236T, G2677T/A and C3435T SNPs of ABCB1 were obtained from 99 tuberculosis patients susceptible or resistant to RMP and ETB (NoRER or RER).

RER

tuberculosis


Input: Analysis of the relationship between the slope of change of viral load and HLA class II haplotype indicated a significantly different slope of change of viral load between the alleles of (1) DRB1 (*) 15 and DRB1 (*) 0701, and (2) DQB1 (*) 0602 and DQB1 (*) 0201, P (c) =. 036 and P (c) =. 026 after Bonferroni correction for multiple comparisons, respectively.

viral load


Input: Although SOD1 dimer dissociation is a known requirement for its aggregation, the common structural basis for diverse FALS mutations resulting in aggregation is not fully understood.

dissociation


Input: Serum concentrations of C-reactive protein, adiponectin, resistin, interleukin-6, tumor necrosis factor-alpha, and monocyte chemoattractant protein-1 were significantly higher in the ESRD versus control group.

C-reactive protein

ESRD

C-reactive protein

ESRD


Input: To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations.

TGFBI

LCD

TGFBI

LCD


Input: To investigate possible association of the non-classical APOE gene + 113C/G (rs440446) intron 1 enhancer polymorphism with bone mineral density (BMD) in a homogeneous Chinese population in Singapore.

APOE gene

bone mineral density


Input: METHODS: We compared the pathological phenotype of BRCA1/BRCA2 negative familial breast cancer (BRCAx) to BRCA1-positive, BRCA2-positive and sporadic cases without a family history.

sporadic


Input: We first determined that EPOR expression and activation were increased and that activated EPOR was localized to retinal vascular endothelial cells (ECs) in retinas at postnatal day 18 (p18), when pathological angiogenesis in the form of intravitreal neovascularization occurred.

neovascularization


Input: The highest expression of CCL4/RANTES, CCL2/MCP-1, and CCL3/MIP-1alpha in the eye was detected at onset of clinical uveitis, whereas CCL4/MIP-1beta was elevated at the peak of AU.

uveitis


Input: Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignancy characterized cytogenetically by a unique translocation of chromosomes 11 and 22 [t (11: 22) (p13: ql2)], resulting in fusion of the EWS and WT1 genes.

EWS

translocation


Input: Changes in circulating levels of HIV, CD4, and tissue expression of HIV in a patient with recent-onset ulcerative colitis treated by surgery. Case report.

ulcerative colitis


Input: Pretransplant hepatitis B virus DNA (P = 0. 014), pretransplant serum alpha-fetoprotein (P = 0. 035), number of nodules (P = 0. 011), diameter of main nodule (P = 0. 001), macrovascular invasion (P = 0. 001), microvascular invasion (P = 0. 001), HCC exceeding the Milan criteria (P < 0. 001), and donor rs2069852 AA genotype (P = 0. 010) were associated with HCC recurrence.

HCC

nodule


Input: Our results indicate that somatic BRCA1 mutations, like somatic mutations in the BRCA2 gene, though very rare, can be found in both breast and ovarian cancers and support a tumor suppressor function for BRCA1 in sporadic tumors.

BRCA2 gene

sporadic


Input: Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13.

Esterase D

abnormalities


Input: A pharmacological inhibitor of p110 & #947; (encoded by PIK3CG) impaired cell proliferation in medulloblastoma cell lines and sensitized the cells to cisplatin treatment.

medulloblastoma

medulloblastoma


Input: In contrast, reduced RBP4 levels were observed in type 1 diabetes (T1D).

type 1 diabetes


Input: Hypoxia induced TGF-β1 expression in PC3 prostate cancer cells, and the TGF-β type I receptor (ALK5) kinase inhibitor partially blocked hypoxia-mediated VEGFA (165) secretion.

hypoxia


Input: Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.

Hunter disease

Hunter disease


Input: Recently, deletions of the neuronal apoptosis inhibitory protein gene NAIP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system.

NAIP

proximal spinal muscular atrophy


Input: Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T & gt; C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A & gt; C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene.

MELAS

MELAS


Input: We studied the domain-specific Smad3 phosphorylation in biopsy specimens representing chronic hepatitis, cirrhosis, or HCC from 100 patients chronically infected with HCV, and correlated Smad3 phosphorylation with clinical course.

HCC

chronic hepatitis


Input: Resveratrol improved systemic insulin sensitivity of Irs2-deficient mice.

insulin sensitivity

insulin sensitivity


Input: The involvement of STRAD in 42 PJS associated tumours (sporadic lung, colon, gastric, and ovarian adenocarcinomas) was studied using loss of heterozygosity (LOH) analysis of eight microsatellite markers on chromosome 17, including TP53, BRCA1, and STRAD markers.

sporadic


Input: Testing should be based on the phenotype for antithrombin, protein C and protein S; on the phenotype and genotype (factor V Leiden mutation) for activated protein C resistance; and on the genotype (G20210A mutation) for hyperprothrombinemia.

protein S

hyperprothrombinemia


Input: Global quantitative analysis of the hypoxic secretome identified lysyl oxidase (LOX) as significantly associated with bone-tropism and relapse.

LOX

hypoxic


Input: Here, the entire genomic DNA sequence and mutations in the ASS gene of patients with the classical and mild form of the disease are described.

ASS

mild


Input: Single nucleotide polymorphisms in IL-13 are associated with allergic phenotypes in several ethnically diverse populations. This study was performed in 214 atopic patients (asthma n = 108, allergic rhinitis n = 106) and sex-matched healthy controls (n = 120).

allergic rhinitis

atopic


Input: In 638 subjects including 303 patients with HCC, 89 with chronic hepatitis (CH), 45 with liver cirrhosis (LC) and 201 healthy individuals, we quantified serum hTERTmRNA using the real-time RT-PCR.

HCC

chronic hepatitis


Input: DNA topoisomerase 1 and 2A function as oncogenes in liver cancer and may be direct targets of nitidine chloride.

DNA topoisomerase 1

liver cancer

DNA topoisomerase 1

liver cancer


Input: The TOP3B gene encodes a protein that seems to function in the unlinking of parental strands at the final stage of DNA replication and/or in the dissociation of structures in mitotic cells that could lead to recombination.

TOP3B gene

dissociation


Input: Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

gray platelet syndrome

gray platelet syndrome


Input: Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, comprehensive open reading frame/splice-site mutational analysis of KCNJ8 was performed on genomic DNA isolated from necropsy tissue on 292 unrelated SIDS cases (178 males, 204 white; age, 2. 9 & #177; 1. 9 months).

SIDS

SIDS


Input: These observations suggest the contribution of the CCR1-CCL3 axis to HCC progression.

HCC

HCC


Input: Furthermore, Ang II increases Atox1 binding to the copper exporter ATP7A, which obtains copper from Atox1, as well as translocation of ATP7A to plasma membranes, where it colocalizes with SOD3.

translocation


Input: Prior to pithing, systolic blood pressure (SBP) and diastolic blood pressure (DBP) were recorded via an intra-arterial catheter from sodium pentobarbital anaesthetized rats.

DBP

systolic blood pressure


Input: Fifty four hepatic nodules including 5 large regenerative nodules, 14 low-grade DNs, 7 high-grade DNs, 11 DNs with HCC foci and 17 HCCs, 23 livers with chronic hepatitis/cirrhosis, and 6 normal livers were examined.

HCC

chronic hepatitis


Input: Met/Met carriers had higher adjusted systolic blood pressure (SBP) (+ 4. 79 mm Hg, P < 0. 001) and diastolic blood pressure (DBP) (+ 2. 33 mm Hg, P = 0. 001) than Met/Val or Val/Val carriers.

DBP

systolic blood pressure


Input: Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin.

HMBS

AIP

HMBS

AIP


Input: The identification of POT1 as a new frequently mutated gene in CLL may facilitate novel approaches for the clinical management of this disease.

CLL

CLL


Input: Administration of CRH, an age-specific endogenous convulsant, resulted in a prolonged series of seizures after 2-to 55-min latency.

CRH

seizures

CRH

seizures


Input: Putative miR-21 targets, including bone morphogenetic protein receptor (BMPR2), WWP1, SATB1, and YOD1, were downregulated in the lungs of hypoxia-exposed mice and in human pulmonary artery smooth muscle cells (PASMCs) overexpressing miR-21.

hypoxia


Input: We examined these variants located in or near the JAZF1 (rs864745), THADA (rs7578597), TSPAN8 (rs7961581), ADAMTS9 (rs4607103), NOTCH2 (rs10923931) and the CDC123/CAMK1D (rs12779790) genes for associations with measures of pancreatic beta-cell function and insulin sensitivity.

insulin sensitivity


Input: HCC with nuclear c-Yes was detected in 5 of 39 cases (13. 0%), and nuclear c-Yes expression was not detected in normal, chronic hepatitis or cirrhotic livers.

HCC

chronic hepatitis


Input: We identified 5 somatic BRCA2 mutations in a set of 23 sporadic male breast cancers (21%).

breast cancers

breast cancers


Input: As previous studies of FATE/BJ-HCC-2 expression pattern were mainly based on messenger RNA (mRNA) analysis, it is necessary to investigate its actual protein expression pattern in tumor tissues for the evaluation of its application value.

tumor


Input: The beta3-subunit carries the human platelet alloantigen (HPA)-1a, which is the main target for alloantibodies (alloabs) responsible for foetal and neonatal alloimmune thrombocytopenia (FNAIT) and post-transfusion purpura (PTP).

purpura


Input: Regulating mda-9/syntenin expression using a replication-incompetent adenovirus expressing either sense or antisense mda-9/syntenin modifies the transformed phenotype and alters metastatic ability in immortal human melanocytes and metastatic melanoma cells in vitro and in vivo in newborn rats.

syntenin

adenovirus


Input: Apolipoprotein B (apoB) is a major importance to the metabolism of lipoproteins, and there is also evidence which suggests that apoB plays a central role in atherogenesis.

Apolipoprotein B

atherogenesis


Input: Several epidemiological designs were used: retrospective investigations on dust exposure, case-control studies of 184 silicosis cases and 111 miners occupationally exposed to silica dust, and 1: 2 matched case-control studies of 61 PTB cases and 122 PTB-free miners.

PTB

silicosis


Input: Thrombomodulin (TM) or tissue factor (TF) transcription of mRNA of freshly isolated bone marrow blast from APL patients was detected by semi-quantitative RT-PCR.

Thrombomodulin

APL

Thrombomodulin

APL


Input: Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.

Duane syndrome

Duane syndrome


Input: In addition, six autosomal abnormalities associated with azoospermia and two abnormalities involving Y chromosome, which include a novel karyotype (mos 46, XY/51, XYYYYYY) in OAT individuals, were detected.

OAT

abnormalities


Input: Finally, in a series of adenocarcinoma patients, the expression of five of the deregulated genes (ADAR2, MARS, RAE, SNRPB and SNRPE) correlated with prognosis.

SNRPB

adenocarcinoma


Input: Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

dwarfism

dwarfism


Input: The role (s) of p38δ and active (phosphorylated) p38δ (p-p38δ) in oesophageal squamous cell carcinoma (OESCC) was delineated using wild-type p38δ as well as active p-p38δ, generated by fusing p38δ to its upstream activator MKK6b (E) via a decapeptide (Gly-Glu) 5 linker.

squamous cell carcinoma


Input: Regulation of DDAH1 by miR-21 plays a role in the development of hypoxia-induced pulmonary hypertension and may be of broader significance in pulmonary hypertension.

pulmonary hypertension


Input: We suggest that the p50 subunit could limit the prohypertrophic actions of c-Rel in the normal heart, because p50 overexpression in H9c2 cells repressed c-Rel levels and the absence of cardiac p50 was associated with increases in both c-Rel levels and cardiac hypertrophy.

cardiac hypertrophy


Input: Mechanistically, CCN2 protects cells from hypoxia-mediated apoptosis, providing an in vivo selection for tumor cells that express high levels of CCN2.

hypoxia


Input: Taken together, these results demonstrate that the mutated GPR10 receptor is responsible for the hyperphagia leading to obesity and dyslipidaemia in the obese diabetic strain rat.

hyperphagia


Input: To determine if the presence of prothrombotic polymorphisms, such as factor V G1691A (factor V Leiden) or factor II G20210A, affect the length of secondary postpartum bleeding.

factor V Leiden

postpartum bleeding


Input: Moreover, the numbers of polyps more than 2. 5 mm in diameter were markedly decreased by combined treatment of both COX inhibitors.

COX

polyps


Input: We conclude that biochemical and molecular analysis of Gsalpha and its gene GNAS1 can be valuable tools to confirm the diagnosis of AHO.

AHO

AHO


Input: To investigate the association between the genotypes of the XRCC1-Arg399Gln (rs25487) and ERCC4-Arg415Gln (rs1800067) polymorphisms and smoking-and drinking-related larynx cancer in a Polish population.

smoking


Input: The present investigation examined the regulation and functional significance of compromised PI3-K in suicide brain at the level of upstream phosphatase and tensin homologue on chromosome ten (PTEN) and downstream substrates 3-phosphoinositide-dependent kinase 1 (PDK1) and Akt.

PTEN

suicide


Input: Our results suggest that silencing of either SR-A or CD36 alone reduces atherogenesis in mice.

atherogenesis


Input: Analyses were then stratified by antigen specific anti-citrullinated peptide antibody (ACPA) status including antibody to citrullinated fibrinogen and citrullinated histone H2B.

ACPA

fibrinogen


Input: In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established.

BPES

BPES


Input: ENH is up-regulated during neural differentiation, and its ectopic expression in neuroblastoma cells leads to translocation of Id2 from the nucleus to the cytoplasm, with consequent inactivation of transcriptional and cell-cycle-promoting functions of Id2.

translocation


Input: Functional in vivo interactions between JNK1 and JNK2 isoforms in obesity and insulin resistance.

insulin resistance


Input: The GSTP1 Val allele shows an interaction with smoking, alcohol consumption, and especially H. pylori infection for increasing the risk of gastric cancer.

alcohol consumption


Input: To model human sporadic CRC, we administered the genotoxic agent azoxymethane (AOM) to villin-TLR4 and WT mice.

sporadic


Input: We infected DU145 prostate carcinoma cells with an Mxi1-expressing adenovirus (AdMxi1) in vitro, and measured Mxi1 expression, cell proliferation, soft agar colony formation, and cell cycle distribution.

adenovirus


Input: In conclusion, hypoxia promoted the expansion of CSCs expressing CD133 and CD44 accompanied by an increase of stem cell factors.

hypoxia


Input: In the present study, the role of CTGF was examined in a rat model of pulmonary fibrosis induced by PQ poisoning.

CTGF

pulmonary fibrosis

CTGF

pulmonary fibrosis


Input: To test whether Nrf2 activation would exert therapeutic efficacy against cardiopulmonary changes in a hypoxia-induced PH model, wild-type (WT) and Nrf2-deficient mice as well as Kelch-like ECH associating protein 1 (Keap1) (negative regulator of Nrf2) knockdown mutant mice were exposed to hypobaric hypoxia for 3 weeks.

hypoxia


Input: Using a human fibrosarcoma cell, HT1080 and a human gastric cancer cell, TMK-1, endogenous expression of MT1-MMP or MT2-MMP was suppressed by siRNA induction to examine the influence of cancer progression in vitro and in vivo.

fibrosarcoma


Input: A prospective longitudinal study was carried out in children enrolled from two rural Indian villages at birth and followed weekly for the development of ARI, classified as upper respiratory infection, acute lower respiratory infection (ALRI), or severe ALRI.

ARI

lower respiratory infection


Input: Blood samples were taken to determine insulin resistance, adiponectin, lipoproteins, and C-reactive protein.

C-reactive protein

insulin resistance


Input: All of the neuroblastoma cell lines we examined expressed significant levels of SHH ligand, suggesting an autocrine, ligand-dependent activation of the SHH pathway in neuroblastoma cells.

SHH

neuroblastoma


Input: Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E.

apolipoprotein E

Dysbetalipoproteinaemia

apolipoprotein E

Dysbetalipoproteinaemia


Input: We assessed whether intron 4 (TTTA) n repeat and TCT deletion/insertion polymorphisms and an exon 10 (3'-UTR) C/T single nucleotide polymorphism of CYP19 are associated with gynecomastia.

UTR

gynecomastia


Input: The CT genotype of rs1172822 in the BRSK1 (BR serine/threonine kinase 1) gene was negatively associated with serum AMH levels in our cohort (odds ratio: 3. 15, 95% confidence interval: 1. 35-7. 32, P = 0. 008) and significantly associated with the predicted age at menopause (P = 0. 04).

AMH

age at menopause


Input: We report a germ-line mutation in the gene encoding PRKAR1A, the cyclic AMP (cAMP)-dependent regulatory subunit of protein kinase A, in three unrelated patients with acrodysostosis and resistance to multiple hormones.

acrodysostosis

acrodysostosis


Input: We conclude that U1i represents an alternative to RNAi for the therapeutic silencing of pathologically upregulated genes and demonstrate the functional relevance of Pim-1 oncogene knockdown in glioblastoma.

Pim-1 oncogene

glioblastoma

Pim-1 oncogene

glioblastoma


Input: In 20 patients with sporadic medullary thyroid carcinoma (MTC), immuno-histochemistry was used to localize the expression of the c-Myc oncoprotein, transforming growth factor alpha (TGF-alpha) and epidermal growth factor receptor (EGFR) and these three markers were analysed regarding their relation to histopathological and histochemical variables of the tumours.

EGFR

sporadic


Input: We measured the impact of this exposure on locomotor activity, anxiety, prepulse inhibition (PPI), body temperature and FosB/ΔFosB immunohistochemistry.

FosB

anxiety


Input: Therefore, a significant downregulation of beta-synuclein mRNA expression appears to be a suitable biomarker for the diagnosis of schizophrenia.

beta-synuclein

schizophrenia

beta-synuclein

schizophrenia


Input: The mitochondrial electron transport chain enzyme cytochrome c oxidase (COX) is defective in patients with sporadic Alzheimer' s disease (AD).

COX

sporadic


Input: The results suggest that the increased IL-1beta expressions in the prefrontal cortex and hippocampus induced by norfloxacin with biphenylacetic acid relate to seizure activities, and that these brain regions play pivotal roles in norfloxacin-induced convulsions.

convulsions

convulsions


Input: This confirms that SAMS is a human malformation syndrome resulting from GSC mutations.

GSC

SAMS

GSC

SAMS


Input: The protein kinase activities of prostasomes isolated from seminal fluid and malignant prostate cell lines (PC-3, DU145, and LNCaP) were investigated using the model phosphorylation substrates histone and casein, as well as the plasma proteins C3 and fibrinogen, in combination with specific protein kinase inhibitors.

fibrinogen


Input: Structure, expression and chromosome mapping of MLZE, a novel gene which is preferentially expressed in metastatic melanoma cells.

MLZE

metastatic melanoma


Input: This association between apparent therapy-induced differentiation in Ewing sarcoma and absence of detectable fusion transcripts in the residual tumor provides presumptive evidence that EWS/FLI1 expression may inhibit differentiation in tumour cells.

EWS

residual tumor


Input: Low concentrations of GSNO increased Sp3 binding, as well as Sp3-dependent transcription of the cystic fibrosis transmembrane conductance regulatory gene, cftr.

cystic fibrosis


Input: Infection of metastatic melanoma cells with Ad. mda-7 results in an increase in cells in the G (2)/M phase of the cell cycle and changes in the ratio of pro-apoptotic (BAX, BAK) to anti-apoptotic (BCL-2, BCL-XL) proteins.

BAK

metastatic melanoma


Input: The FATE/BJ-HCC-2 antigen was also expressed in other tumor tissues.

tumor


Input: Global ischemia led to extensive cell death in the striatum, thalamus, and in the CA1 and CA2, and less-pronounced cell death in the CA3 and dentate gyrus (DG) hippocampal subfields.

ischemia


Input: In early AD, male butyrylcholinesterase K-variant carriers with one or two apolipoprotein ɛ4 alleles have prominent medial temporal atrophy, synaptic failure, cognitive decline, and accumulation of aggregated beta-amyloid peptide.

butyrylcholinesterase

atrophy


Input: The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype.

GD

GD


Input: At the functional level, these regulations correlated with a repression of the Notch target gene Hes1 and the atrophy/remodeling gene MuRF1.

atrophy


Input: We describe a new approach to stabilize nonsense mRNA, based on the inhibition of the NMD mechanism, by combining cycloheximide-mediated inhibition of translation, and caffeine-mediated inhibition of UPF1 phosphorylation.

caffeine


Input: Inflammatory markers such as C-reactive protein (CRP) are associated with insulin resistance, adiposity, and type 2 diabetes.

CRP

insulin resistance


Input: Lack of association between dendritic cell nuclear protein-1 gene and major depressive disorder in the Han Chinese population.

dendritic cell nuclear protein-1

major depressive disorder

dendritic cell nuclear protein-1

major depressive disorder


Input: We conclude that, although it has been speculated that the N-terminus CFTR missense variants may severely affect the behaviour of the CFTR chloride channel, patients with the P5L CFTR mutation, in association with a severe class II mutation, may be asymptomatic or may be affected by mild disease.

CFTR

asymptomatic


Input: Tumor cell migration, invasion, and angiogenesis are important determinants of tumor aggressiveness, and these traits have been associated with the motility stimulating protein autotaxin (ATX).

ATX

aggressiveness


Input: IL-8 increased NF-κB and Akt activities and adhesion molecules ICAM-1, VCAM-1, and CD44 expression in GC cells.

NF-κB

adhesion


Input: Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies.

RHOA

leukoencephalopathy

RHOA

leukoencephalopathy


Input: The depression-like behavior was virtually abolished in TNF & #945; p55 receptor-knockout mice, and increased B1 receptor mRNA expression was completely absent in this mouse strain.

depression

depression


Input: CONCLUSIONS: Complex, protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 loss, therefore, the presence of these types of TP53 mutations in sporadic BLBCs might be a hallmark of BRCAness and a potential biomarker for sensitivity to PARP inhibition.

sporadic


Input: A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

luteinizing hormone receptor

gonadotropin-independent precocious puberty

luteinizing hormone receptor

gonadotropin-independent precocious puberty


Input: One MAN1 disruption mutant, man1, which showed poor capsule formation, reduced polysaccharide secretion and morphological abnormalities, was chosen for virulence studies.

abnormalities


Input: We assessed the release ability of conditionally replicative adenovirus (CRAd) from MSC using crystal violet staining, TCID (50) assay, and quantitative PCR.

MSC

adenovirus


Input: Our data show that mutation analysis of the SLC26A4 gene is of high diagnostic yield among subjects with deafness and bilateral EVA in both China and the U. S.

EVA

deafness


Input: In the most severe and potentially life-threatening forms of exanthems (Stevens-Johnson syndrome/toxic epidermal necrolysis) cytotoxic CD8 + T cells with natural killer cell markers can be found in the blister fluid.

toxic epidermal necrolysis


Input: Presence of high-affinity AHR enhanced thymic atrophy and liver hypertrophy in the pups.

AHR

atrophy

AHR

atrophy


Input: More importantly, UTA2-1-specific CTL effectively lysed mHag (+) hematopoietic cells, including patient myeloma cells, without affecting non-hematopoietic cells.

myeloma


Input: The HepG2 culture media containing elicited AFP was assessed for its ability to inhibit proliferation of T47D cells when applied to these human BC cells in culture, and to inhibit the estrogen-induced phosphorylation of the estrogen receptor in T47D cells.

AFP

BC

AFP

BC


Input: The interaction of platelets with leukocytes is mainly determined by the proteins encoded by six genes: P-Selectin (SELP encodes CD62P) on the thrombocyte binding to P-Selectin-Glycoprotein-Ligand-1 (PSGL1) on the leukocyte, intracellular-adhesion-molecule 2 (ICAM2) interacting with Integrin alpha M (ITGAM) and Glycoprotein 1b-alpha (GP1BA) binding to Integrin alpha L (ITGAL).

ITGAL

adhesion


Input: Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling. Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension. Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3).

sporadic


Input: Epidermal growth factor receptor (EGFR) signaling pathways contribute to the biological aggressiveness of PDAC, and we found that the motogenic effects of ΔNp63α were augmented in presence of EGF.

EGF

aggressiveness


Input: We analyzed the NEMO gene in 122 IP patients and identified mutations in 83 (36 familiar and 47 sporadic cases).

NEMO

IP

NEMO

IP


Input: We detected variable expressivity in relation to age of onset and a possible case of incomplete penetrance in 3 of 6 families (50%), with more than 1 affected child or more than 1 subject carrying 2 CYP1B1 mutant alleles.

variable expressivity


Input: Further functional analyses indicated that the interplay between RAD6 and ASF1A associates with tumorigenesis.

tumorigenesis


Input: We showed that AP-1 and CREB were specifically induced by AGEs; furthermore, TFD (transcription factor decoy) for AP-1 could attenuate the AGE-induced increases in TSP-1 levels and cellular hypertrophy.

hypertrophy


Input: Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis.

T gene

familial hypertrophic cardiomyopathy


Input: The discovery of RAB23 mutations in patients with Carpenter syndrome implicates HH signaling in cranial-suture biogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutations of other HH-pathway components--and provides a new molecular target for studies of obesity.

Carpenter syndrome

Carpenter syndrome


Input: We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype.

PIQ

autism


Input: There was weak evidence to implicate the following: IL13, IFNGR2, EDN1, and VDR in asthma; IL18, TBXA2R, IFNGR2, and VDR in atopy; TLR9, TBXA2R, VDR, NOD2, and STAT6 in airway hyperresponsiveness; TLR10, IFNGR2, STAT6, VDR, and NPSR1 in atopic asthma.

atopy


Input: Occludin is involved in adhesion, apoptosis, differentiation and Ca2 +-homeostasis of human keratinocytes: implications for tumorigenesis.

Occludin

adhesion


Input: The EphB2 gene was recently implicated as a prostate cancer (PC) tumour suppressor gene, with somatic inactivating mutations occurring in approximately 10% of sporadic tumours.

EphB2 gene

sporadic


Input: In the in situ hybridization cytochemistry experiment, HCN1 mRNA declined to 52. 00% and 46. 00% of the control values in the cornus ammon 1 (CA1) regions of hippocampus and neocortex separately after chronic cerebral ischemia.

chronic cerebral ischemia


Input: We also observed increased FKBP5 and decreased BAG1 mRNA expression in bipolar disorder (47. 5% [p & lt; 0. 05] and 14. 9% [p & lt; 0. 005]).

bipolar disorder

bipolar disorder


Input: Immunohistochemistry for glial fibriary acidic protein revealed that the formation of glial scar was also prevented by HGF gene treatment.

HGF gene

scar


Input: Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T & gt; A of the ALDH5A1 gene.

succinic semialdehyde dehydrogenase deficiency

succinic semialdehyde dehydrogenase deficiency


Input: To explore further LMNA' s possible role in normal aging, we genotyped 16 SNPs over a span of 75. 4 kb of the LMNA gene on a sample of long-lived individuals (LLI) (US Caucasians with age ≥ 95 years, N = 873) and genetically matched younger controls (N = 443).

LMNA gene

aging


Input: Although CIC-DUX4 resulting in a t (4; 19) translocation has been previously described in primitive sarcomas, this is the first report implicating the related DUX4 on 10q26 in oncogenesis.

translocation


Input: DGAT activity per unit adipose weight was negatively correlated with adipocyte size (P < 0. 01) and positively correlated with direct FFA storage in omental (P < 0. 001) but not in abdominal subcutaneous fat.

DGAT

weight


Input: CS-associated malignancies including cancers of the larynx, oral cavity, and pharynx, esophagus, pancreas, kidney, bladder, and lung; all are known to overexpress the nuclear factor-kappaB (NF-kappaB)-regulated gene products cyclin D1, cyclooxygenase (COX)-2, and matrix metalloprotease-9.

COX

larynx


Input: Interestingly, a subset of genes whose expression is characteristic of Paneth cells, i. e. the defensins and matrilysin, were highly overexpressed in colon cancers.

matrilysin

colon cancers

matrilysin

colon cancers


Input: These findings suggest that the MSP/RON signaling pathway may be regulated by hepsin in tissue homeostasis and in disease pathologies, such as in cancer and immune disorders.

RON

immune disorders


Input: The inv (11) (p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.

chromosome translocation


Input: DNA double-strand break analysis by γ-H2AX foci: a useful method for determining the overreactors to radiation-induced acute reactions among head-and-neck cancer patients.

neck cancer


Input: We have investigated morphometrically unaffected neurons, intracellular neurofibrillary tangles (I-NFT) and extracellular neurofibrillary tangles (E-NFT) in eight subdivisions of the hippocampal cortex in two cases of early-onset familial Alzheimer' s disease (FAD) and six cases of early-onset sporadic Alzheimer' s disease (SAD).

FAD

sporadic


Input: A polymorphism in the IL-6 gene (rs2069840) showed an interaction with smoking on CRP (p <. 001) and IL-6 (p =. 049) peripheral levels.

smoking


Input: E-cadherin expression was found to be absent in normal ovarian tissue and was frequently expressed in benign epithelial ovarian cysts, with absence or low levels observed in late-stage ovarian cancers.

E-cadherin

ovarian cysts


Input: Combination of proliferative and apoptotic properties prompts prostate cancer cells to be " addicted " to increased levels of phosphorylated BAD.

BAD

prostate cancer

BAD

prostate cancer


Input: Background diseases of the HCC patients include liver cirrhosis and chronic hepatitis of type B or C. RNA was prepared from both cancerous and surrounding non-cancerous tissues, and analyzed for the presence of MK mRNA by RT-PCR, PCR-Southern blot, and Northern blot analysis.

HCC

chronic hepatitis


Input: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.

COX

chronic diarrhoea


Input: Also, infarct size reduction by losartan was halted by a blockade of the AT2 receptor.

infarct


Input: HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic myelopathy of adulthood, presenting with slowly progressive spastic paraparesis and sphincter dysfunction with mild sensory involvement.

TSP

progressive spastic paraparesis