Input: The results of the TRH test and the DST point to similar endocrinological patterns in alcoholics as in depressive patients and thus support the hypothesis of a link between alcoholism and depression.

TRH

depression

TRH

depression


Input: The efficacy of NVP-BKM120 was tested using intracranial U87 glioma model.

glioma


Input: In palladium sensitive patients, there were significant increases of DRB4 (R. R. = 15. 48, p & lt; 0. 05), DR4 (R. R. = 13. 27, p & lt; 0. 005), DRB1 * 0405 (R. R. = 4. 43, p & lt; 0. 05), and DQB1 * 0401 (R. R.

sensitive

sensitive


Input: This is linked to the activation and translocation of Bax to the mitochondrial membrane, cytochrome c release into the cytosol, and activation of caspase-3, in a PUMA-dependent manner.

PUMA

translocation


Input: We found biochemical evidence suggesting that resveratrol protects against Wallerian degeneration by promoting the dissociation of SIRT1 and DBC1 in cultured ganglia.

Wallerian degeneration

Wallerian degeneration


Input: DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.

ITPA

inosine triphosphatase deficiency

ITPA

inosine triphosphatase deficiency


Input: The CYP21A2 genotype analysis identified six different mutants and revealed a carrier frequency of 9. 83% with the mild p. Val281Leu being the most frequent (4. 3%), followed by p. Qln318stop (2. 5%), p. Pro453Ser (1. 33%), p. Val304Met (0. 83%), p. Pro482Ser (0. 67%) and p. Met283Val (0. 17%).

mild


Input: All seven patients had granulomas staining positive for IFN-gamma, TNF-alpha and IL-12p40, but only four stained positive for IL-4.

IFN

granulomas


Input: SHRs showed significant increases in blood pressure, micturition frequency, tissue levels of NGF and expressions of both K (IR) 6. 1 and K (IR) 6. 2 mRNAs, and a significant decrease in the bladder blood flow.

NGF

micturition frequency


Input: Here, we explored the effect of GPR119 on cholesterol metabolism and inflammation in THP-1 macrophages and atherosclerotic plaque progression in apoE (-/-) mice.

inflammation


Input: HSPA12A messenger ribonucleic acid was significantly reduced (p & lt;. 01; mean log2 optical density difference =-. 84) across subjects with schizophrenia but not in the DLPFC of subjects with major depression or in monkeys chronically treated with haloperidol.

schizophrenia

schizophrenia


Input: We investigated the p22 (phox) C242T single-nucleotide polymorphism by polymerase chain reaction in consecutive patients with ischemic stroke or transient ischemic attack under the age of 50 (n = 161) and in population-based control subjects (n = 136).

ischemic stroke


Input: A combination treatment with IL-7 and agonist anti-4-1BB antibody at 3 wk after LCMV clone 13 infection expands T cells and reduces viral load in a TRAF1-dependent manner.

viral load


Input: Mutations of CTNS causing intermediate cystinosis.

CTNS

intermediate cystinosis

CTNS

intermediate cystinosis


Input: In this work, we identify biallelic rare, predicted-deleterious ARMC9 variants (stop-gain, missense, splice-site, and single-exon deletion) in 11 individuals with JS from 8 families, accounting for approximately 1% of the disorder.

JS

JS


Input: Our in vitro data demonstrate that impairment of insulin/IRS-1/PI3K signaling by overexpression of Arg972-IRS-1, knockdown of endogenous IRS-1, or PI3K inhibitor can abolish hypoxia-induced IRS-1-associated PI3K activity and ACE2 expression in human cardiomyocytes, which suggests a causal relationship between Arg972-IRS-1 and decreased serum ACE2 levels in acute MI patients.

hypoxia


Input: Pseudotyped adeno-associated virus (AAV) 2/9, composed by the AAV2 rep and AAV9 cap genes, can efficiently target lung epithelial cells and might carry gene sequences with therapeutic potential for asthma.

AAV

asthma


Input: Validated targets for miR-223 that have effects on inflammation and infection include granzyme B, IKKα, Roquin and STAT3.

Roquin

inflammation


Input: Thus, PARP activation plays an important role in cisplatin-induced kidney injury, and its pharmacological inhibition may represent a promising approach to preventing the cisplatin-induced nephropathy.

PARP

nephropathy

PARP

nephropathy


Input: The present study indicates that miR-885-5p suppresses the metastasis of HCC and inhibits Wnt/& #946;-catenin signaling pathway by its CTNNB1 target, which suggests that miR-885-5p to be a promising negative regulator of HCC progression and as a novel therapeutic agent to treat HCC.

metastasis

metastasis


Input: The identification of loss-of-function mutations in the filaggrin (FLG) gene, whose product is a key structural protein in the outermost layer of the epidermis in up to 50% of patients with AD, provides a significant insight into explaining disease initiation and points to a complex secondary interplay of environmental and immunological sequelae once barrier disruption is established.

FLG

secondary


Input: CARD15 mutations in Blau syndrome.

Blau syndrome

Blau syndrome


Input: Compared with MCAO group, By-H group significantly ameliorated neurological deficit, lessened the infarct volume and brain edema, increased the expression of Nrf2, HO-1 and SOD1 (P < 0. 05), and decreased the content of MDA (P < 0. 05).

infarct


Input: Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

ARG1 gene

progressive spastic paraparesis


Input: Endothelial TLR4 activation impairs intestinal microcirculatory perfusion in necrotizing enterocolitis via eNOS-NO-nitrite signaling.

necrotizing enterocolitis

necrotizing enterocolitis


Input: A common variant of the PNPLA3 gene confers susceptibility to hepatic steatosis in obese youths without increasing the level of hepatic and peripheral insulin resistance.

PNPLA3 gene

insulin resistance


Input: Ten lncRNAs (HOTAIR, AFAP1-AS1, POU3F3, HNF1A-AS1, 91H, PlncRNA1, SPRY4-IT1, ENST00000435885. 1, XLOC_013104 and ENST00000547963. 1) which previously found to be differently expressed in esophageal cancer were selected as candidate targets for subsequent circulating lncRNA assay.

esophageal cancer


Input: Variation in IGF2BP2 interacts with adiposity to alter insulin sensitivity in Mexican Americans.

insulin sensitivity


Input: Other gene mutations frequently occurring in gallbladder carcinoma might be affected by this negative MGMT and MMR status.

MMR

gallbladder carcinoma


Input: Furthermore, H-Ras, RhoA, and Cdc42 decrease in expression levels and activities in muscle atrophy.

muscle atrophy


Input: Moreover; (3) CoCl (2), an inducer of Hypoxia Inducible Factor (HIF)-1alpha, increased the expression of MUC1 mRNA; and (4) HIF-1alpha-targeted siRNA but not its control siRNA decreased hypoxia-induced MUC1 mRNA.

hypoxia


Input: Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness.

rhodopsin kinase

Oguchi disease

rhodopsin kinase

Oguchi disease


Input: Our study demonstrates that Hsc70 is a prerequisite for the surface translocation and angiogenic function of NCL, which suggests strategies to target both Hsc70 and NCL for more effective antiangiogenic therapies.

translocation


Input: αB-crystallin over-expression disrupts Smad4 mono-ubiquitination by interacting with its E3-ubiquitin ligase, TIF1γ, thus limiting its nuclear export.

mono


Input: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by white matter edema.

MLC

edema


Input: By multivariate analysis, IL-6 > 5. 8 ng/L and CRP > 2. 6 mg/L were independently related to the presence of complex coronary plaque (P = 0. 0002 and 0. 004, respectively).

plaque


Input: In the 8; 21 translocation, the AML1 gene, located at chromosome band 21q22, is translocated to chromosome 8 (q22), where it is fused to the ETO gene and transcribed as a chimeric gene.

translocation


Input: No single feature was predictive of seizure-free outcome, but there was a trend for better outcome in CD34-positive tumors (p = 0. 07).

seizure


Input: These studies are the first to demonstrate that overexpression of SP-1 plays a central role in hypoxia-induced VEGF secretion.

VEGF

hypoxia


Input: The prevalence of having > 36 CGG repeats in the FMR1 gene was significantly higher in patients with POI than in controls, and age at the onset of amenorrhea was significantly lower in patients with > 38 repeats.

FMR1 gene

amenorrhea


Input: We conclude that ESDN is a marker of vascular remodeling and regulator of VSMC proliferation.

ESDN

vascular remodeling


Input: Transactivation response DNA-binding protein 43 (TDP-43) is a principal component of ubiquitinated inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis (ALS).

DNA-binding protein

amyotrophic lateral sclerosis


Input: On the average, without chemotherapy, hemoglobin concentrations drifted toward about 11. 1 g/dl without EPO but could be maintained at near 12. 0 g/dl with EPO.

EPO

hemoglobin


Input: These included recurrent mutations in RMND1, AARS2, and MTO1, each on a haplotype background consistent with a shared founder allele, and potential novel mutations in 4 possible mitochondrial disease genes (VARS2, GARS, FLAD1, and PTCD1).

mitochondrial disease


Input: Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Visual impairment and progressive phthisis bulbi

Visual impairment and progressive phthisis bulbi


Input: Nuclear receptor Nurr1 is expressed in and is associated with human restenosis and inhibits vascular lesion formation in mice involving inhibition of smooth muscle cell proliferation and inflammation.

inflammation


Input: Theca cells of obese, compared to control, pigs displayed androstenedione hypersecretion in response to in vitro treatment with LH, and up-regulated 3-beta-hydroxysteroid dehydrogenase 1 and 17-beta-hydroxysteroid dehydrogenase 4 transcript levels in response to in vitro treatment with LH or LH + insulin.

3-beta-hydroxysteroid dehydrogenase 1

obese


Input: E4F1 protein is overexpressed in a large subset of human acute myeloid leukemia samples.

acute myeloid leukemia


Input: Furthermore, the higher frequency of a haplotype of VAX1 with NSCL/P patients suggests a low penetrant gene for oral cleft, and warrants further studies.

NSCL

oral cleft


Input: An ex vivo monocyte adhesion assay revealed that adhesion of THP-1 monocytes to aortas isolated from Apoe (-/-) and LDLR (-/-) mice stimulated by TNF-α or oxidized LDL was suppressed by Hic-5 deficiency.

adhesion


Input: Whereas lymphomas representing pre-and postfollicular B cell developmental stages are negative for BOB. 1/OBF. 1, high-level expression of BOB. 1/OBF. 1 is characteristic of germinal center-derived tumors.

OBF

tumors


Input: Loss of CDX2 expression was also associated with increased CK7 expression, decreased CK20 expression, CpG island methylator phenotype, microsatellite instability and BRAF mutation.

microsatellite instability


Input: We previously reported that long-term treatment with some antidepressants at low concentrations upregulates BCL2/adenovirus E1B 19-kDa-interacting protein 3 (BNIP3) mRNA expression in NG108-15 cells without causing cell damage, suggesting that BNIP3 is a candidate of intrinsic depressive disorder-related factor (s).

adenovirus


Input: Subsequent to our identification of the t (8; 21) breakpoint region on chromosome 21, we reported that the translocation results in the fusion of the AML1 gene on chromosome 21 with a novel gene on chromosome 8 which we called ETO (for eight twenty-one).

translocation


Input: Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms.

MEHMO

MEHMO


Input: We investigated DNA copy number aberrations in human esophageal squamous cell carcinoma (ESCC) cell lines using a high-density oligonucleotide microarray and found a homozygous deletion of PARD3 (the gene encoding PAR-3).

PAR

esophageal squamous cell carcinoma


Input: We conclude that FAM149B1 is required for normal ciliary biology and that its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome.

Joubert syndrome

Joubert syndrome


Input: Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

developmental delay

developmental delay


Input: The polypeptides encoded by the two cloned cDNA fragments matched to portions of CA125, an ovarian cancer antigen and a giant mucin-like glycoprotein present at the surface of tumor cells.

giant


Input: This study demonstrates that disruption of the CAV1 gene--a rare structural variant associated with schizophrenia--is not only pro-psychotic but also attenuates atypical antipsychotic drug actions.

schizophrenia

schizophrenia


Input: We have performed a systematic review of the literature to analyze the relevance of more VDR polymorphisms (Fok1, Bsm1, Taq1, Apa1, and Cdx2) for individual malignancies, including cancer of the skin (melanoma and nonmelanoma skin cancer), ovarian cancer, renal cell carcinoma, bladder cancer, non-Hodgkin lymphoma, leukemia, thyroid carcinoma, esophageal adenocarcinoma, hepatocellular carcinoma, sarcoma, head and neck and oral squamous cell carcinoma.

melanoma


Input: p53-induced microRNA-1246 inhibits the cell growth of human hepatocellular carcinoma cells by targeting NFIB.

NFIB

hepatocellular carcinoma


Input: We found that hypoxia reduced PPARγ expression by a mechanism independent of both hypoxia-inducible factor (HIF) and histone deacetylases (HDACs).

PPARγ

hypoxia


Input: The authors identified 27 unrelated DMRV patients with homozygous or compound-heterozygous mutations in the GNE gene.

GNE

DMRV

GNE

DMRV


Input: Since these regions are implicated in control of both transcription and replication, we wished to determine whether BCL2 translocation was also accompanied by changes in replication timing of the translocated allele.

translocation


Input: We review the literature regarding the role of SCF/c-kit system in the oncogenesis of leukemia and MPD, and then discuss the significance of our finding in the context of growth advantage of the mutated clones over the normal clones.

SCF

leukemia


Input: Hyperemia and the vascular diameter of the main arteriole were significantly reduced by H (2) O (2)-scavenger Catalase, suggesting that endogenous H (2) O (2) may be one of the mediators of hyperemia in the mucosa in this animal model of intestinal inflammation.

Catalase

Hyperemia

Catalase

Hyperemia


Input: The inhibition of MMP-12 expression by TGF-beta1 suggests that TGF-beta1, acting via Smad3, may promote plaque stability.

plaque


Input: We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein' s extracellular Fas-binding region.

FasL

ALPS

FasL

ALPS


Input: In the index cases the deficiency of SP-B was associated with qualitative and quantitative abnormalities of the surfactant proteins A and C. Immunostaining for lung surfactant proteins and a search for the 121ins2 mutation by restriction enzyme analysis of DNA extracted from paraffin-embedded lung tissue was performed for 7 additional affected infants from 6 families, bringing to 10 the total number of patients with CAP who have been studied.

SP-B

abnormalities


Input: The Cpn burden, measured by real-time quantitative (k)-PCR using the number of organisms normalized against the number of eukaryotic cells in the tissue, was associated with plaque expression of IL-6 (Spearman R = 0. 55; P < 0. 0001), which was associated with serum levels of IL-6 (R = 0. 56; P < 0. 0001) and CRP (R = 0. 80; P < 0. 0001).

plaque


Input: Intestinal NCoR1, a regulator of epithelial cell maturation, controls neonatal hyperbilirubinemia.

neonatal hyperbilirubinemia

neonatal hyperbilirubinemia


Input: In addition, the effects of hypoxic stimuli on Ang-1, Ang-2, vascular endothelial growth factor (VEGF), and erythropoietin (EPO) expression was investigated in Hep3B cells.

VEGF

hypoxic


Input: Using Merlin software, we performed non-parametric linkage analysis to test for linkage with obesity and overweight condition and variance component analysis to test for linkage with waist circumference in our T2D siblings/families dataset. Our study shows that the PSMD9 SNPs IVS3 + nt460, IVS3 + nt437, and 197G are in linkage with overweight condition and waist circumference in Italians.

waist circumference


Input: In the ROP model, avascular retina persisted at P14 and intravitreous neovascularization developed at P18.

neovascularization


Input: In this study, we attempted to analyze the genetic polymorphism between SAG sensitive and resistant parasites using a total of 52 L. donovani isolates obtained either from bone marrow of VL patients or from skin lesions of post kala-azar dermal leishmaniasis (PKDL) patients that constitute an important reservoir of parasite.

SAG

post kala-azar dermal leishmaniasis


Input: The positive frequency of circulating IGF-II mRNA was 34. 2% in HCC, no amplified fragment was found in other liver diseases, extrahepatic tumors, and normal controls, respectively.

HCC

liver diseases


Input: Neither copy of the bcl-2 gene was demethylated in this region in 5 of 5 lymphoid cell lines that lack this translocation.

bcl-2 gene

translocation


Input: Molecular genetic analyses focused on the presence or absence of the immunoglobulin heavy chain (IgH) gene and/or MALT1/MLT gene alteration resulting from t (11; 18) (q21; q21) translocation.

MLT

translocation


Input: These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Our findings suggest that a high copy number of FAS gene confers risk for BD and VKH syndrome.

FAS

VKH syndrome

FAS

VKH syndrome


Input: The identification of inherited missense variants, somatic missense mutations (present in 3 of 57 tumors), and LOH in the tumor from a patient with a germ line missense change suggest a role for MLH3 in endometrial tumorigenesis.

tumorigenesis


Input: Using a rat model of prehepatic portal hypertension with preserved hepatic function, we examined pulmonary elaboration of endothelial nitric oxide synthase (NOS), inducible NOS, heme oxygenase-1 (HO-1), heme oxygenase-2 (HO-2), endothelin-1 mRNA, and protein.

portal hypertension


Input: Familial hemiplegic migraine (FHM) patients do not show hypersensitivity of the calcitonin gene-related peptide (CGRP)-cyclic adenosine 3', 5'-monophosphate pathway, as characteristically seen in migraine patients without aura.

CGRP

aura


Input: The rate of TIMP3 gene expression was 100% in non-neoplastic tissues but apparently decreased to various extents at different stages, i. e., decreased to 30% (6/20) at the early stage, to 3. 4% (2/58) at the progressive stage, and to 0% (0/78) in metastatic lymph nodes.

TIMP3 gene

non-neoplastic


Input: The connection between polyQ expansion in Httexp and MSN neurodegeneration remains elusive.

MSN

neurodegeneration


Input: In both MCF-7 and MDA-MB-231 cells, mild starvation reduced cell proliferation, and KDM2A knockdown suppressed the reduction of cell proliferation.

mild


Input: Sixty-six percent of patients with AFS carried at least one HLA-DQB1 * 03 allele; DQB1 * 0301 and DQB1 * 0302 were the most frequent allelic variants (odds ratio [OR] vs healthy subjects = 8. 22; 95% CI, 4. 30-15. 73; P <. 001; OR vs all patients with HSD = 1. 93; 95% CI, 1. 09-3. 41; P <. 01; OR vs atopic patients with HSD = 2. 57; 95% CI, 1. 46-4. 53; P <. 001).

atopic


Input: Transmission disequilibrium tests (TDTs) in a sample of 177 nuclear families showed significant association and linkage of the DraI polymorphism with the ADHD combined subtype (P = 0. 03), and the quantitative TDT showed association of this polymorphism with the inattentive (P = 0. 003) and hyperactive-impulsive (P = 0. 015) symptom dimensions.

TDT

inattentive


Input: We investigated the association between idiopathic recurrent miscarriage (IRM) and the PROGINS 306 base pair insertion polymorphism in intron G of the progesterone receptor gene, which is known to segregate with progesterone-dependent neoplasms.

IRM

neoplasms


Input: Germline mutations of MMR genes have rarely been found in families that have HNPCC or suspected HNPCC and that do not show microsatellite instability (MSI-low phenotype).

MMR

microsatellite instability


Input: G protein-activated K + channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing.

depression

depression


Input: This article reports a family with a 9-year-old boy with Rett-like phenotype and congenital blindness, who inherited a novel MECP2 variant (p. P430S) from his asymptomatic mother.

asymptomatic


Input: The two SIAH isoforms compensate for each other when one is repressed; inhibition of both SIAH1 and SIAH2 using combined siRNAs significantly reduced infarct size while improving cardiac function after ischemia/reperfusion injury of the heart.

ischemia


Input: Frequent loss of heterozygosity (LOH) and mutations of the tumor suppressor gene PTEN (phosphatase and tensin homologue deleted from chromosome 10) have been found in sporadic gliomas.

tensin

sporadic


Input: The t (7; 21) (p22; q22) translocation, recently described in three cases of myeloid neoplasias, fuses the ubiquitin specific peptidase 42 gene, USP42, a member of the deubiquitinating enzyme family, to RUNX1.

translocation


Input: Initial mutant-dependent damage is restricted to motor neurons and includes synapse and metabolic abnormalities, endoplasmic reticulum (ER) stress, and selective activation of the PRKR-like ER kinase (PERK) arm of the unfolded protein response.

PERK

abnormalities


Input: Basic fibroblast growth factor regulates persistent ERK oscillations in premalignant but not malignant JB6 cells.

ERK

premalignant


Input: Five giant gonadotroph adenomas were compared with 7 nonaggressive, nongiant gonadotroph cell adenomas, and no statistically significant changes in transcript levels of MIB-1 (MKI67) or TP53 were observed.

giant


Input: The average percentages of positively stained cells for human MutL homolog 1 (hMLH1), human MutS homolog 2 (hMSH2), and human MutS homolog 6 (hMSH6) in RGP-CMM (75. 6 +/-3. 4%, 67. 20 +/-7. 71%, and 76. 6 +/-2. 1%, respectively) were reduced compared with benign nevi.

MutL homolog 1

nevi


Input: In addition, detection of PAX8 or PAX2 in clear cell adenocarcinoma of the lower urinary tract is helpful in differentiating it from urothelial carcinoma and its variants and adenocarcinomas of the urinary bladder or of the prostate.

clear cell adenocarcinoma


Input: Thus, tumors overexpressing VEGF (165) generated dense, highly heterogeneous vessel networks that were distinctly different from those of tumors expressing VEGF (121) (poorly vascularized and necrotic).

VEGF

necrotic


Input: GPR34 belongs to the largest family of cell surface molecules involved in signal transmission that play important roles in many physiological and pathological processes, including tumorigenesis.

tumorigenesis


Input: Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

galactose 1-phosphate uridylyltransferase

classic galactosemia

galactose 1-phosphate uridylyltransferase

classic galactosemia


Input: Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor VLDLR mRNA demonstrate impairments in the Reelin signaling system in autism, accounting for some of the brain structural and cognitive deficits observed in the disorder.

VLDLR

autism

VLDLR

autism


Input: We explored potential associations between genetic polymorphisms in genes related to DNA repair and detoxification metabolism and epidermal growth factor receptor (EGFR) mutations in a cohort of 410 never-smoking patients with lung adenocarcinoma.

EGFR

smoking


Input: A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus.

fundus albipunctatus

fundus albipunctatus


Input: Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p. V80F mutation and a known p. D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1.

EXOSC3 gene

distal amyotrophy


Input: These data open the perspective to target HLA class II ligands with specific processing and presentation behavior for CD4 + T cell therapy of hematological malignancies.

hematological malignancies


Input: By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia.

PTH

mild


Input: However, whether there are some differences between those 2 groups in baseline clinical characteristics is still unclear. We enrolled consecutive 1271 NSCLC patients detected with either 19 Del or L858R and collected their baseline clinical characteristics including age, sex, comorbidity, smoking and drinking status, body mass index (BMI), TNM stage, histologic type, differentiation, tumor maximum diameter (TMD), and CEA level.

CEA

smoking


Input: Ectopic expression of these three genes in normal squamous esophageal cells in vitro induces markers of intestinal differentiation, such as KRT20, MUC2, and VILLIN.

VILLIN

esophageal


Input: Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification.

dystrophin

calcification

dystrophin

calcification


Input: Variables included in the maximal multivariate model were male sex, chronic alcoholism, use of ACE inhibitors or angiotensin-receptor blockers, Simplified Acute Physiology Score II score, serum glucose concentration at ICU admission, and the presence of the allele D of the ACE gene.

ACE

chronic alcoholism

ACE

chronic alcoholism


Input: Employing a discordant-sibship case-control design, we examined the association between single nucleotide polymorphisms (SNPs) in RXRA and CASR and risk for colorectal cancer overall and by colorectal subsite and microsatellite instability (MSI) status using data from the Colon Cancer Family Registry.

RXRA

microsatellite instability


Input: Helicobacter pylori infection in normal gastric mucosa may cause p53 mutations through activation of activation-induced cytidine deaminase (AID) and/or promoter DNA methylation of E-cadherin, an initiator of gastric cancer, and such abnormalities are found even in the precancerous stage of gastric carcinogenesis.

E-cadherin

abnormalities


Input: When cholestasis was induced in pregnant rats, BVR alpha, SVCT1 and SVCT2 expression in maternal and fetal livers was stimulated, and this was further enhanced by UDCA treatment.

BVR

cholestasis

BVR

cholestasis


Input: Overexpression of IL-22 protected lung cancer cell lines from serum starvation-induced and chemotherapeutic drug-induced apoptosis via activation of STAT3 and its downstream antiapoptotic proteins such as Bcl-2 and Bcl-xL and inactivation of extracellular signal-regulated kinase 1/2.

Bcl-xL

starvation


Input: These data indicate that CD40-CD154 signaling is important in late atherosclerotic changes, such as lipid core formation and plaque destabilization.

plaque


Input: Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.

citrullinemia type 1

citrullinemia type 1


Input: In this study, ENO1 silencing significantly reduced cell glycolysis, proliferation, migration, and invasion in vitro, as well as tumorigenesis and metastasis in vivo by modulating p85 suppression.

tumorigenesis


Input: In hypoxic cells, 20 Gy IR induced an additional significant increase in VEGF relative to nonirradiated hypoxic control cells with elevated baseline VEGF levels induced by hypoxia.

VEGF

hypoxia


Input: Using ChIP-chip analysis, we identified cell migration and adhesion genes, including Tsp-1/THBS1, ING4, PVRL3, and PPAP2B, as Myc-bound loci in medulloblastoma cells.

adhesion


Input: In starvation-stressed TBP/Q36 and TBP/Q79 cells, increased reactive oxygen species generation accelerated the cytoplasmic translocation of HMGB1, which accompanied autophagy activation.

TBP

translocation


Input: A functional polymorphism (5-HTTLPR) in the serotonin transporter gene has been widely studied as a risk factor for a variety of psychopathologic conditions including aggressive/violent behavior.

serotonin transporter

aggressive/violent behavior


Input: It also suggests that TSLP-mediated DC activation may be involved in Th2 responses triggering B-cell activation in H. pylori-induced gastritis.

B-cell activation

gastritis


Input: These data demonstrate that the hyperemia caused by isoflurane resolves over time during stable 1 MAC isoflurane anesthesia.

MAC

anesthesia


Input: Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.

Zellweger syndrome

Zellweger syndrome


Input: Markers miR-132, miR-181b, miR-30e and miR-432 are potential indicators for symptomatology improvements, treatment responses and prognosis for schizophrenia patients.

schizophrenia

schizophrenia


Input: According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD.

TLS

sporadic


Input: The aim of this study was to investigate the possible influence of the common FBN-1 genotypes on arterial stiffness in a large cohort of healthy individuals.

FBN

arterial stiffness


Input: Sixty-one diabetics with unprovoked ketosis or ketoacidosis at presentation were tested for glutamic acid decarboxylase antibody (GAD-Ab), tyrosine phosphatase antibody (IA2-Ab), thyroglobulin antibody (TGA), thyroid peroxidase antibody (TPO-Ab) and HLA-DQ genotype.

ketoacidosis


Input: Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.

WASP

WAS

WASP

WAS


Input: Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple sites, it cannot be ruled out that mutations of this gene play a role in malignancies arising in peculiar multi-cancer families.

Li-Fraumeni syndrome

Li-Fraumeni syndrome


Input: Immunohistochemical stains performed on paraffin sections from these 6 representative cases showed differential protein expression of MLH1, MSH2, MSH6, and PMS2 when compared to normal reactive tissues from the same patient but showed no significant differences when compared to controls of non-familial, sporadic lymphomas.

sporadic


Input: Age-dependent neurodegeneration accompanying memory loss in transgenic mice defective in mitochondrial aldehyde dehydrogenase 2 activity.

aldehyde dehydrogenase 2

neurodegeneration


Input: Germline mutations in PALB2 have been identified in approximately 1-2% of familial breast cancer and 3-4% of familial pancreatic cancer cases.

familial pancreatic cancer

familial pancreatic cancer


Input: Moreover, we observed that the short-lived Wwox knock-out mouse display spontaneous and audiogenic seizures, a phenotype previously observed in the spontaneous Wwox mutant rat presenting with ataxia and epilepsy, indicating that homozygous WWOX mutations in different species causes cerebellar ataxia associated with epilepsy.

WWOX

audiogenic seizures


Input: Together, these data show that loss of Testisin is caused, at least in part, by DNA hypermethylation and histone deacetylation, and suggest a tumour suppressor role for Testisin in testicular tumorigenesis.

Testisin

tumorigenesis


Input: Several transcripts involved in microRNA processing were found regulated by hypoxia, of which DICER (down-regulated) and AGO4 (up-regulated) were HIF dependent.

DICER

hypoxia


Input: Abnormal platelet morphology in 2 patients with FLNA-PVNH prompted us to examine a third patient with similar platelet morphology previously diagnosed with immunologic thrombocytopenic purpura.

FLNA

thrombocytopenic purpura


Input: miR-10b promotes cell invasion through RhoC-AKT signaling pathway by targeting HOXD10 in gastric cancer.

RhoC

gastric cancer


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

THBD

smoking


Input: As monocytic migration is a key event of atherogenesis, we investigated whether histamine induces monocytic expression of monocyte chemoattractant protein (MCP)-1 and its receptors CCR2-A and-B, and also endothelial expression of ICAM-1 and VCAM-1.

MCP

atherogenesis


Input: These results suggest that chronic depression is associated with 5-HTTLPR.

chronic depression

chronic depression


Input: In addition, BAMBI transduction disrupted the cytokine network mediating the interaction between MSCs and breast cancer cells.

BAMBI

breast cancer


Input: The expression of TNC was down-regulated on Day 7 and was no longer apparent by Day 14 after infarction.

TNC

infarction


Input: Our findings thus suggest that both DAP12 and TREM-1 are involved in the development of granulomatous responses in the liver.

liver

liver


Input: Thus, the emergence of hyperdiploidy was associated with qualitative and quantitative differences in TGF beta' s modulation of PDGF-A and c-sis, which provided a mechanism by which the aneuploid glioma cells might achieve' clonal dominance'.

PDGF-A

aneuploid


Input: Results showed that TREK-1 and TRAAK mRNA in cortex, TREK-1 and TREK-2 mRNA in hippocampus showed significant increases 2 h after middle cerebral artery occlusion (MCAO).

TRAAK

middle cerebral artery occlusion


Input: Reduced expression of aquaporin 5 water channel in nitrofen-induced hypoplastic lung with congenital diaphragmatic hernia rat model.

aquaporin 5

diaphragmatic hernia

aquaporin 5

diaphragmatic hernia


Input: Our data demonstrate that dic (17; 18) (p11. 2; p11. 2) is a novel recurrent cytogenetic abnormality in CLL associated with early age at diagnosis and accelerated disease progression.

cytogenetic abnormality


Input: GRP78 and GRP94 expression was induced by glucose starvation and up-regulated in the malignancies.

starvation


Input: It was observed that the GFP + cells isolated from ascites and solid tumors exhibited unlimited proliferative potential; the monoclonal cells were mouse‑original, had a cancer cell phenotype and expressed the macrophage marker protein CD68.

ascites


Input: GBM biopsy specimens show little detectable IRF3 immunoreactivity, and in vitro adenovirus-mediated IRF3 gene transfer in glioma cells modulates IL-1/IFNγ-induced cytokine and chemokine genes, resulting in upregulation of IFNβ and IP-10 (IRF3-stimulated genes) and downregulation of proinflammatory and angiogenic genes including IL-8, TNFα and VEGF (IRF3-represssed genes).

adenovirus


Input: Tat-biliverdin reductase A inhibits inflammatory response by regulation of MAPK and NF-κB pathways in Raw 264. 7 cells and edema mouse model.

biliverdin reductase A

edema


Input: Impact of genetic variants of IL-6, IL6R, LRP5, ESR1 and SP7 genes on bone mineral density in postmenopausal Mexican-Mestizo women with obesity.

obesity


Input: To establish whether MRP1 gene copy number is a common feature of the upregulation of MRP1 expression in cancer patients, we studied the MRP1 gene copy number in leukemia patients by fluorescent in situ hybridization (FISH) and real-time PCR.

FISH

leukemia


Input: We propose to call this new disorder CDG-IIh or CDG-II/COG8.

CDG-IIh

CDG-IIh


Input: The increased expression of L-WNK1 in the DCT results in increased activity of the Na-Cl cotransporter (NCC) and thus hypervolemia and hypertension.

hypervolemia


Input: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by chronic white matter oedema.

MLC

oedema


Input: During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.

status epilepticus

status epilepticus


Input: Interleukin-10 gene polymorphisms are associated with Behcet' s disease but not with Vogt-Koyanagi-Harada syndrome in the Chinese Han population.

Behcet' s disease

Behcet' s disease


Input: In the rats with MI, G-CSF could promote EPCs mobilization, increase the mRNA expressions of VEGF and Flk-1, and augment the density of neovascularization in the border area of infarct myocardium.

VEGF

infarct


Input: The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.

bipolar disorder

bipolar disorder


Input: We performed a genetic association study using four functional polymorphisms of the dopamine receptor 4 (DRD4), dopamine transporter (DAT), mono-amino-oxidase A (MAOA) and cathecol-O-methyl-transferase (COMT) genes in 103 patients with chronic daily headache associated with DA (CDHDA).

chronic daily headache


Input: Furthermore, we show that targets of unphosphorylated STAT1, such as antigen presenting genes and CASP1, are also repressed by hypoxia possibly through the same STRA13-mediated mechanism.

hypoxia


Input: The effects of alcohol consumption on pulmonary release of IL-17 are unknown.

alcohol consumption


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: Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.

ARS component B

mal de Meleda

ARS component B

mal de Meleda


Input: CRP and IL-6 levels were negatively associated with forced expiratory volume in one second (FEV (1)), forced vital capacity (FVC) and mean forced expiratory flow between 25 and 75% of FVC (FEF (25-75%)).

vital capacity


Input: RT-PCR analyses indicated that TX-402 reduced the inducible expression of vascular endothelial cell growth factors (VEGF) and glucose transporter type 3 (GLUT-3) under hypoxic conditions selectively.

VEGF

hypoxic


Input: Pseudoxanthoma elasticum (PXE) is a heritable multisystem disorder manifesting with ectopic calcification of peripheral connective tissues, caused by mutations in the ABCC6 gene.

ABCC6 gene

ectopic calcification


Input: The LRP1B rs2890652 C allele was associated with insulin resistance, showing a 3. 3% increase (p = 0. 0011) using the HOMA-insulin resistance (HOMA-IR) index and a 2. 2% reduction (p = 0. 0014) with the Matsuda index.

insulin resistance


Input: The differential diagnosis includes conventional-type papillary renal cell carcinoma, conventional-type (clear cell) renal carcinoma, and the ASPL-TFE3 renal carcinomas associated with the t (X; 17) (p11. 2; q25), with the latter two being morphologically the most similar to the t (X; 1) renal carcinomas.

ASPL

papillary renal cell carcinoma


Input: The PAX5 protein expression was relatively strong in small-cell lung cancer (SCLC, 11/12); however, its expression was not detected in non-SCLC (NSCLC, n = 13), mesothelioma (n = 7), pancreatic (n = 6), esophageal (n = 6) and head and neck cancer cell lines (n = 12).

esophageal


Input: As disturbances of serotonin neurotransmission are implicated in alcohol abuse and aggression, we have examined in BDNF (+/-) mice alcohol drinking behavior, as well as central 5-hydroxytryptamine (5-HT) 1A receptor function at the level of 5-HT1A receptor-G protein interaction.

5-HT1A receptor

alcohol abuse

5-HT1A receptor

alcohol abuse


Input: Several studies in humans have found associations between polymorphisms in the resistin gene and obesity, insulin sensitivity and blood pressure.

resistin gene

blood pressure


Input: Decreasing the dose of ACTH reduced the systemic blood pressure, but the cardiac hypertrophy progressed and the child subsequently died.

ACTH

cardiac hypertrophy

ACTH

cardiac hypertrophy


Input: PHC patients with hypersplenism who displayed elevated levels of alanine transaminase (ALT), aspartate transaminase (AST), γ-glutamyltransferase (GGT), ALK, phosphatase, and prolonged prothrombin time (PT) had a significantly increased risk of HCC.

HCC

hypersplenism


Input: We therefore examined whether the inactive ALDH2 * 2 allele is associated with smoking-related chronic airway obstruction.

smoking


Input: Identification of a subtype-specific ENC1 gene related to invasiveness in human pituitary null cell adenoma and oncocytomas.

ENC1 gene

pituitary null cell adenoma


Input: To examine whether overexpression of EMSY would mimic the chromosome instability phenotype that is associated with the loss of Brca2 function, we constructed a lentiviral vector (Lenti-EMSY/GFP) that encodes a truncated form of the Emsy protein, including its Brca2-interacting domain, and green fluorescent protein (GFP) and used it to transduce human telomerase-immortalized human breast epithelial (184-hTert) cells, which have a nearly normal karyotype.

Emsy

chromosome instability


Input: Toll-like receptor 2 deficiency results in impaired antibody responses and septic shock during Borrelia hermsii infection.

Toll-like receptor 2

septic shock


Input: Therefore, these findings not only reveal a novel pathophysiological function of TWEAK/Fn14 but also uncover a new player that may contribute to the development of cellular insulin resistance in hepatocytes.

insulin resistance


Input: Although patients with mutated type 1 cannabinoid receptors (CB1) polymorphism are associated with renal microvascular damage, the biologic role of CB1 signaling in proteinuria remains uncharacterized till now.

proteinuria


Input: Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study.

heavy chain

albuminuria


Input: While CARD15 variants associated with CD are located within or near the C-terminal leucine-rich repeat domain and cause decreased NF-kappaB activation, BS mutations affect the central nucleotide-binding NACHT domain and result in increased NF-kappaB activation.

BS

BS


Input: The deafness-dystonia syndrome (DDS) or Mohr-Tranebjaerg syndrome (MTS, MIM 304700) is a rare X-linked recessive neurological disorder resulting from loss-of-function mutations in the nuclear DDP1/TIMM8A gene, involved in the transport and sorting of proteins to the mitochondrial inner membrane.

MIM

neurological disorder


Input: In order to follow the spatial and temporal evolution of neuronal damage, cellular activation and stress responses subsequent to lithium-pilocarpine seizures of various durations in the adult rat, we analyzed the expression of Fos protein and local cerebral glucose utilization as markers of cellular activation, HSP72 immunoreactivity and acid fuchsin staining as indicators of cellular stress and injury, and Cresyl violet staining for the assessment of neuronal damage.

Fos

seizures

Fos

seizures


Input: Haplotypes that included DDX39B (-22C > G and-348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels.

GGT

malaria


Input: The survival promoting activity of ascites was not affected by inhibitors of growth factor receptor including epidermal growth factor receptor (EGFR), VEGFR, FGFR, Her2/neu, and IGF-R1.

IGF

ascites


Input: Truncated ETV1 encoded by prostate cancer translocation TMPRSS2: ETV1 lacks the critical COP1 binding motifs and was 50-fold more stable than wild-type ETV1.

prostate cancer


Input: In conclusion, long-term PTH replacement in a child with ADH was not unsafe, increased bone mass without negatively impacting mineralization, and improved serum mineral control but did not prevent nephrocalcinosis.

PTH

bone mass


Input: we identified association of a single-nucleotide polymorphism in BICD1 with the presence or absence of emphysema (P = 5. 2 × 10 (-7) with at least mild emphysema vs. control subjects; P = 4. 8 × 10 (-8) with moderate and more severe emphysema vs. control subjects).

mild


Input: HFD-fed mice lacking Cnot7 and Tob express elevated levels of Ucp1 mRNA in iWAT and are resistant to diet-induced obesity.

obesity


Input: The U251, U87, and C6 glioma cell lines were used in the present study, and the expression of p-Akt, Akt, and MMP-9 was determined through Western blotting, quantitative real-time PCR, and hematoxylin and eosin (HE) staining.

glioma


Input: The changes in LRIG1 and epidermal growth factor receptor (EGFR) protein levels were measured by Western blot; growth curves were estimated by the tetrazolium (MTT) assay; then cell-cell adhesion, cell-matrix adhesion and cell invasion assays were used to measure proliferation, adhesion and invasion in LGIR1-transfected and control cells.

EGFR

adhesion


Input: EC exhibited higher expression levels of markers of oxidative stress (lipid peroxydation level and caveolin-1 mRNA), inflammation (angiopoietin-like 2 mRNA), hypoxia (vascular endothelial growth factor (VEGF)-A mRNA), and cell damage (p53 mRNA).

VEGF

hypoxia


Input: Therefore, our results indicate that cancer gene therapy combining two or more tumor suppressors, such as IL-24 and OSM, may constitute a novel and effective therapeutic strategy for treating malignant melanoma and other cancers.

OSM

malignant melanoma


Input: Forced ATF3 over expression in a prostate cancer cell line induced cell proliferation and accelerated cell cycle progression from G1 to S-phase.

prostate cancer

prostate cancer


Input: We conclude that the recurring Ashkenazi MSH2 and MSH6 mutations contribute little if any to sporadic and familial gastric and pancreatic cases in Israeli patients.

sporadic


Input: Therapeutic strategies for chronic interstitial lung disease have been used successfully in cases of a mild clinical course in juvenile patients with ABCA3 gene mutation.

ABCA3 gene

mild


Input: These results may indicate a role of Cx32 and Cx43 in urethane-induced lung carcinogenesis, since their absence may contribute to the development of urethane induced lung tumors.

lung tumors

lung tumors


Input: All cases of embryonal carcinoma (14 cases), yolk sac tumor (3 cases), and choriocarcinoma (3 cases) showed positive immunostaining for FGF8, FGF4, and FGFR1.

embryonal carcinoma


Input: Immunohistochemistry with the same antibody showed signal translocation from the physiologic perinuclear compartment observed in glia and unrelated osteoblasts to nuclei of tumor cells, consistent with the likely function of EWSR1-CREB3L1 as a transcriptional regulator predicted by its structure.

translocation


Input: Individual records were provided for 2914 participants with normal cognition, 697 with SCI, and 3972 with MCI aged 18 to 100 years from 55 studies.]

MCI

normal cognition


Input: In summary, we suggest that the miR-21/PDCD4/AP-1 autoregulatory loop is one of the main driving forces for hepatic fibrosis progression.

hepatic fibrosis


Input: These genes include peptidoglycan recognition protein 2, dual specific phosphatase-4, tetraspanin 4, thrombospondin 1, and SPARC-related modular calcium binding protein-2, which were validated by qPCR analysis of 126 human liver specimens, including steatosis, fibrosis, and NASH, alcohol and hepatitis C cirrhosis, and in mouse models of liver inflammation and injury.

tetraspanin 4

fibrosis


Input: XRCC1 Arg399Gln and Arg194Trp, GSTP1 Ile104Val and GSTT1, GSTM1 null polymorphisms were genotyped in 280 cancer-free individuals, including 52 gastric and 31 duodenal ulcer patients.

duodenal ulcer


Input: At 5 days after infection with ARHI adenovirus, 30-45% of MDA-MB-231 breast cancer cells and 5-11% of SKOv3 ovarian cancer cells were apoptotic as judged by a terminal deoxynucleotidyl transferase-mediated nick end labeling assay and by Annexin V staining with flow cytometric analysis.

ARHI

adenovirus


Input: One of its members, NBPF1, was found to be disrupted by a constitutional translocation in a neuroblastoma patient.

translocation


Input: Here, we utilized a bioinformatics approach to discover 26 miRNA transcription start sites (TSSs) within close proximity to TCF4 chromatin occupancy sites, and validated these sites as bona fide TCF4 targets in LS174T colon carcinoma cells, MCF-7 breast cancer cells and U87 glioma cells by ChIP-PCR.

glioma


Input: Using this model, we evaluated if gene replacement therapy using recent advancements in adeno-associated viral vectors (AAV) provides advantages in preventing rapid retinal degeneration.

AAV

retinal degeneration


Input: Since it remains controversial whether serum phosphate levels are influenced by FGF23 expressions in FD tissue, isolated FD patients without MAS syndrome were examined for the relationship between FGF23 expressions, circulating levels of FGF-23 and phosphate to negate the effects of MAS-associated endocrine abnormalities on serum phosphate.

abnormalities


Input: In HIDS the mutations are located all along the protein which is different from mevalonic aciduria where MK mutations are mainly clustered to a same region of the protein.

MK

mevalonic aciduria

MK

mevalonic aciduria


Input: A categorical TDT yielded no significant findings, but the number of transmissions was small, especially for ADHD-inattentive type.

TDT

inattentive


Input: LCAT P406L variant had a mild effect on lipid profile, HDL subclass distribution, and plasma cholesterol esterification.

LCAT

mild


Input: The genotype frequency of PTX3 was significantly different between the migraine patients and the control subjects.

migraine


Input: We first profiled the expression of miRNAs and mRNAs in a cohort of urothelial carcinomas and further characterised the role of miR-126 in invasion, as it emerged as the most downregulated miRNA between MI and NMI tumours.

NMI

carcinomas


Input: We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS).

translocation


Input: The present study was undertaken to clarify the function (s) of Endothelin-1 and its receptors ETAR and ETBR in osteolytic-bone metastasis from breast cancer, and their regulation by hepatocyte and transforming growth factors (HGF, TGF-β) and hypoxia.

TGF-β

hypoxia


Input: On the basis of our findings, we propose selective FAP inhibition as a potential therapeutic approach to increase endogenous FGF21 activity for the treatment of obesity, type 2 diabetes, non-alcoholic steatohepatitis, and related metabolic disorders.

obesity

obesity


Input: Trans-activation response DNA-binding protein (TDP-43) accumulation is the major component of ubiquitinated protein inclusions found in patients with amyotrophic lateral sclerosis, and frontotemporal lobar degeneration with TDP-43 positive ubiquitinated inclusions, recently relabelled the' TDP-43 proteinopathies'.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Moreover, in an in vivo mouse model of atherosclerosis, zfm1 abundance was decreased in proliferating arterial SMC.

atherosclerosis


Input: As demonstrated by our identification of multiple, consistent signals across the genome, meta-analytically combining existing GWL data is a valuable approach to narrowing down regions relevant for anxiety-related phenotypes.

GWL

anxiety


Input: Compared with normal groups, mRNA levels of LAMB1 were up-regulated in lung tissues of patients with pulmonary fibrosis.

pulmonary fibrosis

pulmonary fibrosis


Input: By contrast, high-grade serous carcinomas were characterised by a converse state of PGC1α/TFAM, ERα positivity and a high Ki-67 index.

TFAM

carcinomas


Input: The analogous mutation in humans is associated with microsatellite instability, defective MMR and cancer, illustrating the utility of the yeast system for studying human disease alleles.

MMR

microsatellite instability


Input: By using a bioassay, we also found that hypoxia stimulated the secretion of VEGF protein into the culture medium of Y79 cells.

VEGF

hypoxia


Input: We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome.

marfanoid-progeroid syndrome

marfanoid-progeroid syndrome


Input: A novel T--& gt; G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease.


Input: Linkage of bipolar disorder and recurrent depression to the chromosome 11p15 markers c-Harvey ras, insulin and tyrosine hydroxylase was tested using a series of genetic models with varying penetrance levels.

tyrosine hydroxylase

recurrent depression

tyrosine hydroxylase

recurrent depression


Input: MCP arthropathy together with a typical pattern of joint involvement is observed in one-third of unselected patients with HHC, and is influenced by the duration and degree of the iron overload.

MCP

iron overload


Input: Moreover, as the severity of ischemia worsens, a transcriptional and/or translational blockade of the hsp70 gene occurs in the same order so that moderate degrees of ischemia induce HSP70 in CA3 neurons and dentate granule neurons but not necrotic CA1 neurons, and severe ischemia induces HSP70 in capillary endothelial cells of hippocampus but not in any infarcted neurons or glia throughout the hippocampus.

ischemia


Input: We evaluated the effects of the polymorphisms with body mass index (BMI), recent use of aspirin/NSAIDs and genetic variations in genes related to insulin signaling pathways including insulin-like growth factor 1 (IGF1), insulin-like growth factor binding protein 3 (IGFBP3), and insulin-related substrates 1 and 2 (IRS1, IRS2) and the vitamin D receptor (VDR).

body mass index


Input: infusion of 0. 3 μg of vehicle or 1. 5 μg of the GLP-1 analog exendin-4 per kilogram of body weight for 2 weeks.

body weight


Input: The majority of the MTS-associated tumors reveal mutations in DNA mismatch repair (MMR) genes (most often hMSH-2 and hMLH-1) and microsatellite instability.

MMR

microsatellite instability


Input: Fluorescent in situ hybridisation (FISH) was used for analysing the status of HER2 gene in colorectal endometriosis and OEC.

FISH

endometriosis


Input: The presence of calcinosis and muscle involvement was more frequently detected in SSc patients with elevated CTACK levels (P < 0. 05 and P < 0. 05, respectively).

CTACK

calcinosis


Input: In the current study, we quantified the expressions of SP precursor mRNA preprotachykinin (TAC1), NK1R (full and truncated forms), viral load (HIV-gag) and several proinflammatory and immune markers (CD4, CCR5, CXCR4, fractalkine, IL-6, IL-10, CCL2, CCL20 and CD163) in the frontal cortex of autopsied brains from HIV-1-positive individuals with or without HIV-associated neuropathology.

viral load


Input: Polymerase chain reaction (PCR) protocols have been developed to detect the t (14; 18) translocation, which juxtaposes the bcl-2 proto-oncogene to the Ig heavy-chain (IgH) gene in 85% of follicular lymphomas and monoclonal rearrangements of the IgH gene in B-cell NHL that lack bcl-2 rearrangements.

translocation


Input: The acute 56% increase in mean PAP produced by hypoxia during placebo treatment (mean PAP [mean +/-SD mm Hg]: normoxia 16. 0 +/-2. 1 versus hypoxia 25. 0 +/-4. 8) was almost abolished by sildenafil (normoxia 16. 0 +/-2. 1 versus hypoxia 18. 0 +/-3. 6), with no significant effect on systemic blood pressure.

PAP

hypoxia


Input: Silenced expression of NFKBIA in lung adenocarcinoma patients with a never-smoking history.

NFKBIA

lung adenocarcinoma


Input: Our results indicated that LTG may have significant benefits in relief of gait disturbance in MJD patients with early ataxia, and may be related to the decreased expression of mutant ataxin-3.

LTG

gait disturbance


Input: Using Myc-MYRF chromatin immunoprecipitation data from rat oligodendrocytes, & lt; i & gt; MYRF & lt;/i & gt; was found to bind immediately upstream of the transcriptional start site of & lt; i & gt; Tmem98 & lt;/i & gt;, a gene that itself has been implicated in autosomal dominant nanophthalmos.

MYRF

nanophthalmos

MYRF

nanophthalmos


Input: Adult patients affected by homozygous or compound heterozygous MFRP mutations generally show signs of retinal dystrophy, with ERG disturbances and RPE abnormalities on autofluorescence imaging.

ERG

abnormalities


Input: Genes involved in inflammation (ALCAM, CTSB, C1S, YKL-40, MIF, SAA2), extracellular matrix remodeling (MMP9, PALLD), angiogenesis (EGFL6, leptin) and oxidative stress (AKR1C3, UCHL1, HSPB7 and NQO1) were upregulated; whereas apoptosis, signal transcription (CITED 2 and NR3C1), cell control and cell cycle-related genes were downregulated.

inflammation


Input: Antagonists at CB1-and CB2-receptors were effective in reversing HU210-induced antinociception, whereas a combination of CB1-and CB2-antagonists was required to block the anti-inflammatory effects of HU210 in pancreatitis.

pancreatitis

pancreatitis


Input: CDG IA is caused by mutations in the PMM2 gene located in chromosome region 16p13.

CDG IA

CDG IA


Input: In the present study, 5/6 cases in which FISH was successful had an IGH/BCL2 fusion as would result from the t (14; 18) (q32; q21) translocation commonly seen in FL of extraoral sites.

IGH

FL

IGH

FL


Input: To clarify the roles of both molecules in tumorigenesis and progression of gastric carcinomas, immunohistochemistry was used on tissue microarray containing gastric carcinomas, adenomas, and nonneoplastic mucosa using the antibodies against GRP78 and GRP94, with a comparison of their expression with clinicopathological parameters of carcinomas.

carcinomas


Input: As hypoxia is a stimulus in chronic tuberculosis infection, we analyzed transcriptional profiles of MTB subject to 168 hours of hypoxia to test the hypothesis that upregulation by hypoxia might result in gene products being recognized as antigens.

MTB

hypoxia


Input: The farnesoid X receptor (FXR) as a new target in non-alcoholic steatohepatitis.

FXR

alcoholic steatohepatitis


Input: Down-regulation of PKCdelta abolished EGF-induced SphK1 translocation and up-regulation of PAI-1 by EGF; whereas, down-regulation of PKCalpha had no effect on the EGF-induced PAI-1 activation but enhanced its basal expression.

translocation


Input: In conclusion, enhancing GSIS and insulin sensitivity through the regulation of Nrf2 levels is a potential avenue for developing new therapeutics.

insulin sensitivity


Input: Results showed that systemic administration of PGN to PIA rats obviously deteriorated arthritis severity.

PGN

arthritis


Input: This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for beta-globin gene cluster haplotyping by the polymerase chain reaction.

beta-globin

blood spots


Input: The FTO rs9939609 A-allele was associated with elevated fasting blood glucose and plasma insulin, hepatic insulin resistance, and shorter recovery half-times of phosphocreatine and inorganic phosphate after exercise in a primarily type I muscle.

FTO

insulin resistance


Input: Embryos from carries of der (15) t (Y; 15) (q12; p11) translocation showed a high frequency of chromosome abnormalities.

chromosome abnormalities


Input: Nerve growth factor serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, end-stage renal disease and, particularly, in renal transplant.

Nerve growth factor

chronic kidney disease

Nerve growth factor

chronic kidney disease


Input: In nonpregnant myometrium (n = 5), receptor density [maximum binding capacity (Bmax)] and dissociation constant (Kd) for AT2-selective CGP42112A were 287 +/-46 fmol/mg protein and 0. 48 +/-0. 09 nM, respectively.

dissociation


Input: Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

alveolar microlithiasis

alveolar microlithiasis


Input: Morpholino knockdown of pofut1 in zebrafish produced a phenotype characteristic of hypopigmentation at 48 hr postfertilization (hpf) and abnormal melanin distribution at 72 hpf, replicating the clinical phenotype observed in our DDD individuals.

DDD

DDD


Input: Homozygous CD18 null mice develop chronic dermatitis with extensive facial and submandibular erosions.

dermatitis

dermatitis


Input: In vitro anti-tumor immune response induced by dendritic cells transfected with EBV-LMP2 recombinant adenovirus.

adenovirus


Input: We used real-time PCR to measure the hypothalamic expression of MCH and its receptor (MCHR1) in two contrasting models of altered nutritional status, namely, obesity induced by 8 weeks' voluntary overeating and food restriction for 10 days.

MCH

overeating


Input: Both CpG methylation and activation-induced deaminase are required for the fragility of the human bcl-2 major breakpoint region: implications for the timing of the breaks in the t (14; 18) translocation.

translocation


Input: The tumoral regions had lower CD4 and CD8 expression as compared with paired non-neoplastic regions, whereas the expression of IL-17 and Foxp3 did not differ.

non-neoplastic


Input: We found that adrenomedullin (AM), VEGF, Glut-1, Glut-3, and Hexokinase-2 among 45 hypoxia-inducible genes investigated were expressed at higher levels under glucose-deprived hypoxic conditions than under hypoxic conditions.

VEGF

hypoxic


Input: Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

alopecia

alopecia


Input: The relative expression levels of DCC, NEO1, NTN1, NTN2L, NTN4, UNC5C, Slit1, Slit2, Slit3, Robo1 and Robo2 were simultaneous quantified in 48 tumors and 7 normal prostate tissues by using real-time quantitative reverse transcriptase-polymerase chain reaction (RT-PCR).

tumors


Input: MxCre-induced knockout of Notch1 led to NRH, in the absence of fibrosis, with a persistent increase in proliferation of LSECs.

fibrosis


Input: Cell adhesion to hyaluronan was significantly lower with CD44 (sol) cells compared to the control cells.

sol


Input: FLNA mutations have been reported in all familial cases and in about 25% of sporadic patients.

FLNA

sporadic


Input: To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset upper motor neuron (UMN) syndromes.

paraplegin

sporadic


Input: TRAF1 gene polymorphism correlates with the titre of Gp210 antibody in patients with primary biliary cirrhosis.

TRAF1 gene

primary biliary cirrhosis


Input: In seven HLA-DR3 homozygous patients with celiac disease and three HLA-DR3-homozygous patients with idiopathic membranous nephropathy, only the normal patterns of HLA class II molecules were displayed, the B8, DR3 type occurring in all patients and the B18, DR3 type in one patient.

celiac disease


Input: The aim of this study was to investigate the local and systemic expression of CC-chemokine ligand 3 (CCL3) and its receptors (CCR1 and CCR5) in tissue samples and peripheral blood mononuclear cells of recurrent aphthous stomatitis (RAS) patients.

recurrent aphthous stomatitis


Input: Mucin-producing tumors (MPTs) of the pancreas accompanied by carcinomas usually include various grades of dysplasia in the ductal epithelium, and invasive areas are histologically similar to those of common invasive ductal carcinomas, suggesting that MPTs provide a good tool to investigate early stages of pancreatic carcinogenesis.

MPTs

carcinogenesis


Input: The alpha (2a)-adrenergic receptor plays a protective role in mouse behavioral models of depression and anxiety.

alpha (2a)-adrenergic receptor

depression

alpha (2a)-adrenergic receptor

depression


Input: LYRM4 downregulation may be one of the mechanisms involved in inefficient oxidative phosphorylation and oxidative stress, increasingly recognised as contributors to schizophrenia pathogenesis.

schizophrenia

schizophrenia


Input: The IL6 genotype may act as a predisposing factor for tacrine transaminitis.

transaminitis


Input: An abnormal expression of cyclin D3, a key regulator of the cell cycle, has been documented in a variety of human malignancies, and the cyclin D3 gene, mapping to 6p21, may be deregulated in human tumors as a result of the t (6; 14) (p21. 1; q32. 3) translocation or gene amplification.

cyclin D3 gene

translocation


Input: Expression of DICER1 protein was undetectable in the epithelial component of PPB tumors but was retained in the malignant mesenchyme (sarcoma).

PPB

PPB


Input: We have therefore generated' knock-in' mouse embryonic stem (ES) cells to investigate the effects of expressing a commonly found hot-spot p53 mutant, R246S--the mouse equivalent of human R249S, which is associated with hepatocellular carcinomas.

hepatocellular carcinomas

hepatocellular carcinomas


Input: Our data underscore the necessity of further studies to firmly establish the relationship between genotypes in MAT I/III deficiency and clinical phenotypes, to elucidate the molecular bases of variability in manifestations of MAT1A mutations.

MAT I/III deficiency

MAT I/III deficiency


Input: Here, we demostrate that knockdown of miR-221/222 increases apoptosis in human gliomas of different p53 types (U251 cells, p53 mutant-type; LN308 cells, p53 null-type; and U87 cells, p53 wild-type).

gliomas


Input: By screening for mutations in the CTNS exons and promotor region, we report 14 novel mutations associated with cystinosis: 11 underlying infantile cystinosis, two juvenile cystinosis, and one associated with an atypical form of the disease.

CTNS

juvenile cystinosis

CTNS

juvenile cystinosis


Input: Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22. 3.

Raine syndrome

Raine syndrome


Input: An interaction between the endothelin-1 gene (EDN1), blood pressure (BP) and social determinants has been previously found.

blood pressure


Input: Salivary duct carcinoma (SDC) often arises in pleomorphic adenoma (PA).

SDC

pleomorphic adenoma


Input: Although the p27 SNP may protect against vascular fibroproliferation, the effect cannot be generalized to cutaneous scars.

scars


Input: MASP-2 levels have been associated with different polymorphisms within MASP2 gene as well as with the risk for inflammatory disorders and infections.

MASP

infections


Input: Studies on clinical specimens also demonstrated that KRAS mutations are present in premalignant tissues and that most of KRAS mutant human cancers have co-mutations in other cancer driver genes, including TP53, STK11, CDKN2A, and KMT2C in lung cancer; APC, TP53, and PIK3CA in colon cancer; and TP53, CDKN2A, SMAD4, and MED12 in pancreatic cancer.

colon cancer


Input: IL28B polymorphism was compared between the 78 patients with mild fibrosis (Metavir score F0-F1) and the 82 with advanced fibrosis (F2-F4).

mild


Input: In the mCIA model, IL-17A neutralization coincident with arthritis development or in mice with established arthritis diminished joint swelling by inhibiting disease initiation and progression.

joint swelling


Input: Human polynucleotide phosphorylase (hPNPaseold-35): a potential link between aging and inflammation.

polynucleotide phosphorylase

inflammation


Input: Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy.

MMR

microsatellite instability


Input: Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features.

intellectual disability

intellectual disability


Input: This study investigated differences in 5-HT (4) receptor and 5-HT transporter (5-HTT) binding by quantitative autoradiography of [(3) H] SB207145 and (S)-[N-methyl-(3) H] citalopram in two murine models of depression-related states, olfactory bulbectomy and glucocorticoid receptor heterozygous (GR (+/-)) mice.

5-HT (4

depression

5-HT (4

depression


Input: A trend for association between depression severity and PDYN variation was detected.

PDYN

depression

PDYN

depression


Input: This study was undertaken to clarify the associations between tumor budding, E-cadherin-catenin complex, and CD44 variant 6 abnormalities.

E-cadherin

abnormalities


Input: In this study, under hypoxic conditions (1% O2), we examined the effect of PEITC on the intracellular level of the hypoxia inducible factor (HIF-1α) and extracellular level of the vascular endothelial growth factor (VEGF) in a variety of human cancer cell lines.

VEGF

hypoxic


Input: Genotypes of GSTM1, GSTT1, and GSTP1 were determined in 352 patients with pancreatic ductal adenocarcinoma and in a control group of 315 healthy, non-Hispanic whites (frequency-matched by age and sex).

pancreatic ductal adenocarcinoma


Input: These effects explain how mutant factor H causes defective complement control and in HUS-particularly under condition of inflammation and complement activation-causes endothelial cell damage.

factor H

inflammation


Input: These results clearly demonstrate that MEB is inherited as a loss-of-function of POMGnT1.

MEB

MEB


Input: Notch has recently been shown to promote epithelial-to-mesenchymal transition (EMT) by involving in the EMT process that occurs during tumor progression and converts polarized epithelial cells into motile, invasive cells.

EMT

tumor progression


Input: FISH assay with a MALT1 dual color break apart translocation probe revealed the absence of MALT1 translocations in all cases.

translocation


Input: Although previous studies have shown acute SERCA2 inactivation to abrogate Ca2 + signaling, we find that chronic inactivation of ATP2A2 in keratinocytes from patients with the similar acantholytic genodermatosis, Darier disease, does not impair the response to raised extracellular Ca2 + levels.

genodermatosis


Input: Clearing of cells bearing the bcl-2 [t (14; 18)] translocation from blood and marrow of patients treated with rituximab alone or in combination with CHOP chemotherapy.

translocation


Input: Microsatellite instability of at least one tested marker was detected in 89% of the MMR-DCF examined, indicating an immediate onset of microsatellite instability after MMR gene inactivation.

MMR

microsatellite instability


Input: This study aimed at the completion of the structure and the sequence of the human ASL gene, the development of a genomic DNA-based system for mutation analysis and, finally, the characterisation of the molecular genetic background of ASL deficiency in 27 unrelated patients.

ASL

ASL deficiency

ASL

ASL deficiency


Input: Our results show that LPA treatment under hypoxia increases HIF-1alpha protein level, which leads to increased expression of VEGF protein and mRNA.

VEGF

hypoxia