Input: Importantly, overexpression of PSAT1 also significantly ameliorated insulin resistance in diabetic mice.

insulin resistance


Input: Disruption of the ODC or AdoMetDC [AdoMet (S-adenosylmethionine) decarboxylase] gene is not compatible with mouse embryogenesis, whereas mice with a disrupted SSAT gene are viable and show no harmful phenotypic changes, except insulin resistance at a late age.

ODC

insulin resistance


Input: Gene expression levels of telomerase reverse transcriptase were significantly lower in white matter oligodendrocytes from MDD as compared to control donors.

telomerase reverse transcriptase

MDD

telomerase reverse transcriptase

MDD


Input: As a result, two novel heterozygous GATA5 mutations, p. Y16D and p. T252P, were identified in two families with autosomal dominant inheritance of BAV, respectively.

BAV

BAV


Input: This study identifies an important role for cross talk between Notch4 and Nodal in metastatic melanoma, placing Notch4 upstream of Nodal, and offers a potential molecular target for melanoma therapy.

metastatic melanoma


Input: These tumors were all characterized by pale-staining fibrillary foci of mature neuroglia, which were intensely immunoreactive for glial fibrillary acidic protein in each case.

glial fibrillary acidic protein

pale


Input: The functional effects of PTPN3 variations were determined by RNA interference and transgenic expression in cholangiocarcinoma cell lines (RBE, HCCC-9810, and Huh28).

cholangiocarcinoma

cholangiocarcinoma


Input: We provide evidence that a deletion in the lumenal loop of RYR1 alters channel function and causes CCD.

CCD

CCD


Input: Low helicase-like transcription factor expression correlated positively with French-American-British M4/M5 subtypes (P < 0. 0001) and complex cytogenetic abnormalities (P = 0. 02 for ≥ 3 abnormalities; P = 0. 004 for ≥ 5 abnormalities) but negatively with CEBPA double mutations (P = 0. 012).

helicase-like transcription factor

abnormalities


Input: We determined the molecular basis of CBS deficiency in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region of the CBS gene.

CBS

CBS deficiency

CBS

CBS deficiency


Input: Instead, SIM + MET treatment led to Ripk1-and Ripk3-dependent necrosis by 48-96 h, determined by propidium iodide-Annexin V flow cytometry, increase in Ripk1 and Ripk3 protein expression, necrosome formation, HMGB-1 extracellular release, and necrotic induction and viability rescue with necrostatin-1 and Ripk3-targeting siRNA.

Annexin V

necrotic


Input: TR2 may function as a negative modulator to suppress AR function in prostate cancer.

prostate cancer


Input: Upon intratracheal injection of lipopolysaccharide, FXR-/-mice showed higher lung endothelial permeability, released more bronchoalveolar lavage cells to the alveoli, and developed acute pneumonia.

FXR

acute pneumonia


Input: The t (12; 21) (p13; q22) translocation, resulting in the fusion of the ETV6 and AML1 genes, occurs in 20-25% of paediatric B-lineage acute lymphoblastic leukaemias (ALL).

translocation


Input: In this study, we evaluated evidence for linkage and association between the two AR repeats and prostate cancer by using the following comprehensive approaches: (1) a combination of linkage and association studies, (2) a test for linkage by parametric analysis and the male-limited X-linked transmission/disequilibrium test (XLRC-TDT), (3) a test for association by using both population-based and family-based tests, and (4) a study of both hereditary and sporadic cases.

TDT

sporadic


Input: Relative to WT mice, influenza virus-infected HET mice showed significantly delayed mortality, which was accompanied by attenuated hypoxemia, cardiopulmonary dysfunction, and pulmonary edema.

HET

hypoxemia


Input: Injections of human TNF-α (hTNF), an agonist of mouse TNFR1, stimulated bone resorption lacunae on the calvariae in WT mice, but mouse TNF-α (mTNF), an agonist of both mouse TNFR1 and TNFR2, could not.

bone resorption


Input: In vivo infection of wild-type and mif-deficient (Mif (-/-)) mice demonstrated a role of MIF in dengue pathogenesis.

MIF

dengue


Input: The chemical inhibition of FASN activity could have a potential benefit in association with the current chemotherapy for melanoma.

FASN

melanoma

FASN

melanoma


Input: He was diagnosed with spastic paraplegia type 4, autosomal dominant (SPG4, MIM #182601).

MIM

spastic paraplegia type 4


Input: Our findings provide the novel insight that HIF-1α-dependent VEGF overexpression under hypoxic conditions shows to some extent associations with the metastatic tendency of ACC cells and may function as a potential target for ACC therapy.

VEGF

hypoxic


Input: Central role of Muc5ac expression in mucous metaplasia and its regulation by conserved 5' elements.

metaplasia


Input: Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disorder that is characterized by the presence of a reciprocal translocation between chromosomes 9 and 22 and results in the formation of the Philadelphia (Ph1) chromosome and is present in most of CML patients.

myeloproliferative disorder


Input: Relative to control, DIO enhanced M-Wnt (P = 0. 01), but not E-Wnt, tumor progression; upregulated EMT-and TIC-associated markers including N-cadherin, fibronectin, TGFβ, Snail, FOXC2, and Oct4 (P < 0. 05, each); and increased intratumoral adipocytes.

EMT

tumor progression


Input: To evaluate the individual role of each subunit in the hypoxic response and induction of VEGF, HIF-alpha protein and HIF-alpha and VEGF mRNA levels were further studied in cultured breast cancer cells after hypoxic induction and/or knockdown of HIF-alpha subunits by siRNA by Western blot and Quantitative Real-Time PCR techniques.

VEGF

hypoxic


Input: These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.

major depression

major depression


Input: The purpose of this study was to evaluate the role of E-cadherin gene alterations in genesis and progression of bladder carcinoma by mutation analysis of coding region, expression analysis and microsatellite instability at E-cadherin chromosome locus.

E-cadherin

microsatellite instability


Input: These findings differ from polymyositis (PM) but are closely similar to those in SJL/J mice (which lack dysferlin) and emphasize the relationship between absence of dysferlin and immune system abnormalities in muscle.

dysferlin

abnormalities


Input: Renal stress caused by brain death induces expression of the cytoprotective genes HO-1 and HSP70, but not of HSP27 and HSP40.

brain death


Input: The expression levels of PAR-2 mRNA in allergic rhinitis nasal mucosa were significantly up-regulated as compared with those in normal nasal mucosa.

PAR

rhinitis


Input: SUR2 proteins are a component of the ATP-sensitive potassium (" KATP ") channel, a metabolic sensor for stress and/or hypoxia that has been shown to change in aging.

hypoxia


Input: A large five-generation family was identified in which the recently described arginine-vasopressin receptor type 2 (AVPR2) mutation that is responsible for NSIAD was segregated.

NSIAD

NSIAD


Input: Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease.

Kufs disease

Kufs disease


Input: These results explain why this patient with a mutation in exon 3II of the ACOX1 gene, but with normal expression of exon 3I, was indistinguishable from other patients with peroxisomal acyl-CoA oxidase deficiency with respect to his clinical presentation and the biochemical abnormalities in his fibroblasts.

peroxisomal acyl-CoA oxidase deficiency

peroxisomal acyl-CoA oxidase deficiency


Input: The risk conferred by 1858T allele on GAD positivity was additive, and our meta-analysis also supported an additive rather than dominant effect of this variant on type 1 diabetes, similar to previous reports on rheumatoid arthritis and systemic lupus erythematosus.

GAD

systemic lupus erythematosus


Input: Conversely, upregulation of CD39 by somatic gene transfer or administration of soluble NTPDases has major benefits in models of transplantation and inflammation.

inflammation


Input: Cerebellar ataxia with cerebellar atrophy on MRI and severe axonal sensorimotor neuropathy were present in all patients.

MRI

axonal sensorimotor neuropathy


Input: CD13 was often detected in ETV6-RUNX1 with additional RUNX1 gain (38%) with an even higher frequency in double ETV6-RUNX1 translocation (77%), but was not detected in RUNX1 amplification (0%, P <. 05).

translocation


Input: These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.

YPS

YPS


Input: We observed an association between male infertility and the GSTM1 and GSTT1 null deletion, but not with the CYP1A1 polymorphism in North Iranian men with idiopathic infertility.

infertility


Input: EGFR mutations were almost exclusively found in never-smoking females (p = 0. 0067).

EGFR

smoking


Input: Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.

phenylalanine hydroxylase

phenylketonuria

phenylalanine hydroxylase

phenylketonuria


Input: The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts.

SMO

odontogenic cysts


Input: Loss of SOX17 removes the normal inhibition of WNT signaling and promotes esophageal tumorigenesis.

esophageal


Input: Homozygous mutation in ELMO2 may cause Ramon syndrome.

Ramon syndrome

Ramon syndrome


Input: The Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma2 in diabetes patients was associated with increased waist circumference and waist to hip ratio.

peroxisome proliferator-activated receptor

waist to hip ratio


Input: Global gene expression scans show that the TNMD gene also is expressed in human adipose tissue and that its expression is regulated in response to weight reduction; however, more detailed information is lacking.

TNMD gene

weight reduction


Input: Anti-beta (2)-GPI antibody binding has been shown to induce nuclear factor-kappa B (NF-kappa B) translocation leading to a proinflammatory EC phenotype similar to that elicited by interaction with microbial products (lipopolysaccharide [LPS]) and proinflammatory cytokines (interleukin 1 beta [IL-1 beta], tumor necrosis factor alpha [TNF-alpha]).

GPI

translocation


Input: Genetic disruption of cytosine DNA methyltransferase enzymes induces chromosomal instability in human cancer cells.

DNA methyltransferase

chromosomal instability


Input: There were no intracranial hemorrhages in the urokinase group, compared with a rate of 1. 5% in the rt-PA PAO group (P =. 087) and 1. 9% in the rt-PA DVT group (P =. 175).

PAO

intracranial hemorrhages


Input: In addition, we observed several putative transcription factor binding sites in the TSP-1 promoter, including those for AP-1 (activator protein-1), CREB (cAMP response element binding protein), NF-kappaB (nuclear factor-kappaB), SRF (serum response factor) and HSF (heat-shock factor), by sequence mapping.

CREB

shock


Input: Compared with the room-air control group, the contents of MDA [(2. 24 +/-0. 43) mmol/g vs. (1. 57 +/-0. 31) mmol/g] and the activities of MPO [(1. 24 +/-0. 25) U/g vs. (0. 69 +/-0. 22) U/g] from lung tissue were elevated at 12 hours and 24 hours of hyperoxia exposure, respectively, and they further increased with prolongation of hyperoxia exposure (P < 0. 05 or P < 0. 01).

MPO

hyperoxia


Input: From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria.

CTH

cystathioninuria

CTH

cystathioninuria


Input: The present findings suggest that decorin and thrombospondin-1 may participate in the development of tubulointerstitial fibrosis and may have some relation with TGF-beta1 in mercuric chloride-treated BN rats.

fibrosis

fibrosis


Input: In the present study, we explored the expression level of lncRNA MALAT1 in primary glioma tissues as well as in U87 and U251 glioma cell lines.

glioma


Input: The cold and menthol receptor, TRPM8, is the predominant thermoceptor for cellular and behavioral responses to cold temperatures.

cold


Input: Twelve of 67 (18%) patients without the 17p deletion showed a TP53 mutation and 50% showed evidence of uniparental disomy.

uniparental disomy


Input: In our recent clinical trial, treatment with the vascular endothelial growth factor A (VEGF-A) antibody, bevacizumab, followed by a combination of bevacizumab and radiation led to near complete necrosis in nearly half of sarcomas.

VEGF-A

necrosis


Input: In both CHC and NAFLD patient groups, serum levels of miR-122 and miR-34a correlated with liver enzymes levels, fibrosis stage and inflammation activity.

inflammation


Input: The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.

polyposis


Input: VEGF (and other proteins, such as erythropoietin (EPO)) are produced in response to hypoxia via a common pathway involving a specific transcription factor (hypoxia-inducible factor, HIF) and a hypoxia responsive element (HRE) in the respective genes' promoter regions.

VEGF

hypoxia


Input: Identical mutations in the dysferlin gene can produce more than one myopathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset).

dysferlin

MM

dysferlin

MM


Input: Furthermore, TLS-containing intracellular inclusions are found in polyglutamine diseases, sporadic ALS, non-SOD1 familial ALS and a subset of frontotemporal lobar degeneration, indicating a pathological significance of TLS in a wide variety of neurodegenerative diseases.

TLS

sporadic


Input: SurvivinsiRNA and the survivin-siRNA/scFv-TfR conjugate were constructed and used successfully to inhibit glioma U87 cell proliferation and enhance apoptosis in vitro.

glioma


Input: The main objectives of the present study were to determine the factors influencing vitamin D status in relation to serum 25-hydroxyvitamin D (25 (OH) D), intact parathyroid hormone (PTH), bone turnover markers (BTMs), bone mineral density (BMD), and vitamin D receptor genotype (VDR) in healthy Saudi pre-and postmenopausal women.

PTH

bone mineral density


Input: Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.

intellectual disability

intellectual disability


Input: The findings suggest that the clinical variability of the WAS can partially be explained by the level of WASP protein in the patient' s cells.

WASP

WAS

WASP

WAS


Input: LPS stimulation in an hypoxic environment did not change VEGF levels, suggesting that LPS induced VEGF production in macrophages is more important than the hypoxic induction.

VEGF

hypoxic


Input: It was found to be a major developmental regulator, because natural Pit-1 gene mutations cause a dwarf phenotype in mice and cause combined pituitary hormone deficiency associated with pituitary hypoplasia in humans.

pituitary hormone deficiency


Input: VEGF-enhanced proliferation under hypoxia by an autocrine mechanism in human vascular smooth muscle cells.

VEGF

hypoxia


Input: We previously reported that compared to health controls, patients with liver cirrhosis present the highest levels of circulating miR-885-5p, followed by those with chronic hepatitis B and those with HCC.

liver cirrhosis

liver cirrhosis


Input: We investigated the association between the polymorphisms of the GAD2 and DRD2 genes and obesity with a higher body mass index (BMI) in Taiwanese patients.

body mass index


Input: The mean CSF IL-6 and GFAP concentrations during the initial NMOSD attack were 91. 4 pg/ml and 369. 3 ng/ml, respectively, and were significantly higher than in ONNDs, idiopathic optic neuritis and myelitis patients (P < 0. 01).

myelitis


Input: An increase in inducible nitric oxide synthase (INOS, 3-fold) and manganese superoxide dismutase (MnSOD, 1. 6-fold), detection of nitrotyrosine, beta-cell apoptosis, and nucleocytoplasmic translocation of pancreas duodenum homeobox-1 (PDX-1) in beta-cells indicated increased oxygen radical formation.

translocation


Input: Here, we use RNAi technology to identify a novel oncogenic pathway that involves aberrant activation of the TYK2 tyrosine kinase and its downstream substrate, STAT1, which ultimately promotes T-ALL cell survival through the upregulation of BCL2 expression

T-ALL

T-ALL


Input: Intestinal epithelial cell-lines (SW480, HT29, HCT116) were stimulated with CSE and nicotine (to mimic smoking) ± TNFα (to mimic inflammation).

CSE

inflammation


Input: In primary tumours with more than 60% aneuploid cells, predominantly aneuploid macrometastasis were found, whereas diploid primary tumours only showed diploid micrometastases or macrometastases in their SLN.

SLN

aneuploid


Input: Expression levels of E-cadherin and beta-catenin mRNA and/or protein in the endometrium of infertile patients with endometriosis (n = 151), those with uterine fibromas (n = 41), patients with unexplained infertility (n = 9), as well as healthy fertile controls (n = 57) were measured.

E-cadherin

infertile


Input: Serial measures of CAC quantify progression of calcified coronary artery plaque.

CAC

plaque


Input: In this study, we investigated the discriminative value of six peptides that were previously proposed to be generated by breast cancer specific exoproteases: bradykinin, des-Arg (9)-bradykinin, Hyp (3)-bradykinin, and fragments of fibrinogen alpha-chain (Fib-alpha ([605-629])), complement component 4a (C4a ([1337-1350])), and interalpha trypsin inhibitor heavy chain 4 (ITIH4 ([666-687])).

fibrinogen


Input: These results are consistent with a role of the PENK gene in opioid dependence.

PENK

opioid dependence

PENK

opioid dependence


Input: In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.

depression

depression


Input: RhoC is essential for the metastasis of gastric cancer.

RhoC

gastric cancer


Input: (2) NKX2. 5 mutations are rare in sporadic CHD patients.

NKX2. 5

sporadic


Input: Furthermore, the difference in the amount of truncated XPA protein correlated with the mildness of neurological manifestations in these three atypical group-A XP patients.

XPA

neurological manifestations


Input: This study provides a conceptual framework for understanding intravascular lipolysis and GPIHBP1 and LPL mutations causing familial chylomicronemia.

LPL

familial chylomicronemia

LPL

familial chylomicronemia


Input: HLA-related gene (s) must, in addition, be involved to account for hypergammaglobulinemia G in the HLA DR3-positive subset of patients.

hypergammaglobulinemia


Input: To examine the role of HESR1 in retinal neovascularization, we transfected retinal vascular endothelial cells (HRCECs) with the HESR1 gene and studied its effects on the expression of angiogenic factors, on the proliferation and migration of endothelial cells, and on the formation of tube-like structures (TLSs).

retinal neovascularization


Input: All familial and seven additional sporadic patients with FHM were analyzed to search for mutations within the CACNA1A gene by applying the double gradient-denaturant gradient electrophoresis technique.

FHM

FHM


Input: We sequenced the minimal promoter region of LGI1 in the probands of 16 ADLTE families and in 104 sporadic IPEAF patients and no mutations clearly linked to the disease were found.

sporadic


Input: TGL groups had reduced proteinuria, serum creatinine, and glomerulosclerosis versus CONT, in contrast to no significant effect with TRX alone (sclerosis index, 0 to 4 + scale: CONT 1. 99 +/-0. 42, TGL 0. 85 +/-0. 12, TGL + TRX 0. 56 +/-0. 14, TRX 1. 30 +/-0. 21; TGL, P < 0. 05; TGL + TRX, P = 0. 01 vs. CONT).

TRX

proteinuria


Input: BACKGROUND: Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.

hemorrhagic stroke


Input: We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and L1007finsC) SNPs in 87 asymptomatic serologically H. pylori-positive individuals (Group I), in 63 patients with antrum-predominant gastritis (Group II) and in 60 patients with corpus-predominant gastritis or pangastritis (Group III).

asymptomatic


Input: Although induction of the acute-phase response with the administration of lipopolysaccharide (LPS) activated the CMV promoter/enhancer from the context of an adenoviral vector in a previous study, LPS resulted in only a modest induction of this promoter from an AAV vector in vivo.

AAV

acute-phase response


Input: VEGF expression is stimulated by hypoxia-dependent and-independent mechanisms.

VEGF

hypoxia


Input: Our findings indicate that the promoter hypermethylation of cancer-related genes, especially CDH1, is frequently shown in SCCs, and dysregulation of the RB1/p16 and/or p53 pathway through either genetic or epigenetic mechanisms, except for epigenetic abnormalities of p53 itself, should contribute to the carcinogenesis of SCCs.

abnormalities


Input: Chromosome translocation, B cell lymphoma, and activation-induced cytidine deaminase.

activation-induced cytidine deaminase

translocation


Input: These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2.


Input: The relative expression of TIMP 1 and TIMP 2 was significantly higher in scar tissue of patients with proliferative and mature hypertrophic scars and keloids than in their regular skin and in scar samples of patients with normotrophic scars.

TIMP

scars


Input: Presence of Xba I X + allele and/or EcoR I E-at the apoB gene may be risk factors for lipid abnormalities secondary to childhood PNS.

apoB gene

abnormalities


Input: PAP was found in malignant ductular structures in pancreatic carcinomas as well as in benign proliferating ductules and acinar cells in chronic pancreatitis.

PAP

chronic pancreatitis


Input: Notably, we found hypoxia to induce the expression of alternative splicing factors (Clk1 and Clk4) as well as proliferation-and angiogenesis-promoting factors (Cyr61 and flTF).

hypoxia


Input: Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

microtubule-associated protein tau

frontotemporal dementia

microtubule-associated protein tau

frontotemporal dementia


Input: We investigated by immunohistochemistry expressions of topoisomerase alpha II, MIB-1, p53, p21, E-cadherin, retinoblastoma (RB) gene protein product, HER-2/neu, and steroid hormone receptors in a case of juvenile respiratory papillomatosis with malignant transformation to determine whether these markers are associated with malignant transformation.

E-cadherin

respiratory papillomatosis


Input: IL-6 and sIL-6R may contribute to the pathogenesis of endometriosis-associated infertility.

infertility


Input: The elevated AMH levels may reflect abnormalities in AMH signaling.

AMH

abnormalities


Input: Therefore, RGS22 may be an important tumor suppressor gene in tumorigenesis, a potential new diagnostic and prognostic biomarker for metastasis and may translate to therapeutic opportunities for the preventive treatment of epithelial cancer metastasis.

tumorigenesis


Input: Of the 19 patients with contactin-associated protein-antibody-2, 10 had neuromyotonia or Morvan' s syndrome, compared with only 3 of the 55 leucine-rich, glioma inactivated 1 protein-antibody positive patients (P < 0. 0001), who predominantly had limbic encephalitis.

contactin-associated protein

limbic encephalitis


Input: Here we show that podoplanin promotes tumorigenesis of oral squamous cell carcinoma (OSCC) and precancerous cells both in vitro and in vivo, and the ErbB3-binding protein-1 (Ebp1) can be activated in oral tumorigenesis and can serve as a transcriptional activator to drive podoplanin expression in the malignant progression.

podoplanin

tumorigenesis


Input: The objective of the present study was to investigate any variation in the PPARG and PPARA genes associated with the risk of fluid retention and development of peripheral edema in patients with type 2 diabetes treated with the dual-acting PPARalpha/gamma agonist ragaglitazar.

PPARG

peripheral edema


Input: Transcription factor Ets-1 mediates ischemia-and vascular endothelial growth factor-dependent retinal neovascularization.

ischemia


Input: The hypoxia-inducible expression of VEGF was evaluated by in vitro transfection assay.

VEGF

hypoxia


Input: In contrast to PSMA/NAALAD1, NAALADL2 was localized at the basal cell surface where it promotes adhesion to extracellular matrix proteins.

adhesion


Input: FROUNT, CCR2, and CCL2 mRNA levels were higher in the severe HF subgroup than in the mild HF subgroup.

mild


Input: The iron content of the incisor enamel was reduced, explaining the loss of yellow pigmentation in CFTR (-) incisors.

CFTR

pigmentation


Input: Polymorphisms in nucleotide excision repair (NER) genes may cause variations in DNA repair capacity and increase susceptibility to bladder cancer through complex gene-gene and gene-smoking interactions.

NER

smoking


Input: We show that cells deficient in the HOIP ligase complex exhibit hypersensitivity to cisplatin.

HOIP

hypersensitivity


Input: Germline silencing of the PD-related protein LRRK2 does not alter glutamate or dopamine release in adult mice, but some exploratory abnormalities have been reported with ageing.

abnormalities


Input: Stromal Cell-Derived Factor-1 Plasmid Treatment for Patients with Heart Failure (STOP-HF) is a Phase II, double-blind, randomized, placebo-controlled trial to evaluate safety and efficacy of a single treatment of plasmid stromal cell-derived factor-1 (pSDF-1) delivered via endomyocardial injection to patients with ischaemic heart failure (IHF).

STOP

blind


Input: Furthermore, Pim1 overexpression, in combination with the hormone treatment, increased inflammation surrounding target tissues leading to pyelonephritis in transgenic animals.

pyelonephritis

pyelonephritis


Input: His germline karyotype of 46, XY, der (8) t (2; 8) (p21; p23. 2) was inherited from a maternal-balanced translocation, which indicates that the proto-oncogene MYCN region of 2p24. 3 is tripicated in germline cells.

oncogene MYCN

translocation


Input: In leptin receptor-deficient obese Zucker rats, with 75% higher body weight than lean littermates, GALP mRNA levels in the ARC were decreased by 75%, while neuropeptide Y (NPY) mRNA levels were increased 7-fold (n = 5, p < 0. 001), consistent with earlier reports.

leptin receptor

body weight


Input: Novel prostate cancer associations for several well characterized genes or full length cDNAs were identified, including PLRP1, JM27, human UbcM2, dynein light intermediate chain 2 and human homologue of rat sec61.

prostate cancer


Input: It was suggested that aberrant ING5 expression may contribute to pathogenesis, growth, and invasion of gastric carcinomas and could be considered as a promising marker to gauge aggressiveness and prognosis of gastric carcinoma.

aggressiveness


Input: Immunostaining of PFN1 in sporadic ALS and familial ALS patients, including those with mutations in SOD1, FUS, UBQLN2 and C9ORF72, found no PFN1-positive inclusions in spinal motor neurons.

FUS

sporadic


Input: In addition, these compounds inhibited hypoxic induction of VEGF mRNA and protein expression in U251 cells.

VEGF

hypoxic


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: Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.

peripheral myelin protein 22

Dejerine-sottas disease

peripheral myelin protein 22

Dejerine-sottas disease


Input: FOXRED1 blockage could serve as a new animal model for Leigh syndrome due to defective CI, which echoes damage to corpus striatum and affection of the central dopaminergic system in this disease.

Leigh syndrome

Leigh syndrome


Input: The corticotropin releasing hormone binding protein gene is likely to be involved in the genetic vulnerability for major depression.

corticotropin releasing hormone binding protein

major depression

corticotropin releasing hormone binding protein

major depression


Input: Two out of three of the cases retained RUNX1' s entire RUNT domain in the translocation, and RUNX1 mutations were absent in the fusion transcripts, confirmed by reverse transcription-polymerase chain reaction and sequencing analysis.

translocation


Input: Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.

von Willebrand factor

type 2 von Willebrand disease

von Willebrand factor

type 2 von Willebrand disease


Input: Higher serum PRL levels were observed in patients with endometriosis at baseline and after 15 and 30 min of TRH administration.

PRL

endometriosis

PRL

endometriosis


Input: Acute attacks, which may occur many hours after a procedure, may be treated with C1-INH; icatibant, a bradykinin B2-receptor antagonist; or ecallantide, a kallikrein inhibitor, all of which have been shown to reduce the duration and severity of HAE attacks.

HAE

HAE


Input: Unlike factor V Leiden and deficiencies of proteins C and S which cause venous thromboembolism, the prothrombin mutation in children is often associated with arterial thrombosis and with central nervous system events.

factor V Leiden

arterial thrombosis


Input: In the M. tuberculosis infection mouse model, infected Gab2-deficient mice exhibited decreased bacterial load and milder lung pathological damage compared with infected wild-type mice, accompanied by decreased production of IL-2, IL-6, and granulocyte/macrophage colony-stimulating factor proinflammatory cytokines, and an increased T-cell-specific T-box transcription factor/GATA binding protein 3 expression ratio.

tuberculosis infection


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

mammary tumor


Input: We report a 28-year-old-Japanese male who had a skin tumor derived from variant type xeroderma pigmentosum (XP), combined with factor XI (FXI) deficiency and type IIB von Willebrand' s disease (vWd).

FXI

skin tumor


Input: Common haplotype patterns in three of the four haplotype blocks spanning the gene encoding IGF1 were associated with mammographic density.

mammographic density


Input: We found that suppression of Rac1, a small GTP-binding protein, inhibited survival and produced apoptosis in three human glioma cell lines (U87, U343, and U373).

glioma


Input: HME may be a novel gastric tumor biomarker and its expression in gastric cancers may be related with lower metastatization rates with conseguent better prognosis.

HME

gastric tumor


Input: Three prostate cancer susceptibility single-nucleotide polymorphisms (rs1447295 at 8q24, rs7920517 and rs10993994 at 10q11) were associated with prostate-specific antigen recurrence (P < 0. 02).

prostate-specific antigen

prostate cancer susceptibility


Input: Multiple epiphyseal dysplasia (MED) is a mild chondrodysplasia affecting the structural integrity of cartilage and causing early-onset osteoarthrosis in adulthood.

MED

mild


Input: We present a case of FHH patient to describe a novel mutation in the CASR.

CASR

FHH

CASR

FHH


Input: Bcl-2 transfection in the peri-infarct region blocked nuclear AIF translocation and improved cortical neuron survival.

translocation


Input: In conclusion, FAS overexpression is an early phenonemon in spontaneous, hormonally and chemically induced rat hepatocarcinogenesis, demonstrable in early clear-cell (glycogenotic) FAH and hepatocellular neoplasms.

FAH

hepatocarcinogenesis


Input: Genes up-regulated in the viremic state, in particular CCL2, presumably serve as potential enhancing factors in HIV-1 replication, represented by high viral load in HIV-1 viremic patients.

viral load


Input: We evaluated the ASAH1 expression levels in 30 subjects with chronic schizophrenia and 30 healthy controls by using real-time polymerase chain reaction (PCR).

chronic schizophrenia

chronic schizophrenia


Input: This response was greater when CM was produced under hypoxia, and was reduced by VEGF-A or FGF-2 neutralizing antibodies.

VEGF-A

hypoxia


Input: MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.

head and neck squamous cell carcinoma


Input: Recent studies have highlighted the relevance of several GEFs, including the phosphatidylinositol 3, 4, 5-trisphosphate Rac exchangers P-Rex1 and P-Rex2a, in breast tumorigenesis.

tumorigenesis


Input: Prospective cohort study based on 54 general practices in the UK; 657 survivors of the 1088 participants in the MRC treatment trial of hypertension in older adults were followed for up to 11 years; 370 participants (57% of survivors) were traced, screened for dementia, and genotyped for APOE in 1994.

MRC

dementia


Input: Notable clinical differences between the two groups were hepatopathy, found in 38% of SUCLG1 cases but not in SUCLA2 cases, and hypertrophic cardiomyopathy which was not reported in SUCLA2 patients, but documented in 14% of cases with SUCLG1 mutations.

hypertrophic cardiomyopathy


Input: This is a randomized, double-blind, placebo-controlled study aimed to evaluate the clinical and biologic effects of letrozole plus lapatinib or placebo as neoadjuvant therapy in hormone receptor (HR)-positive/human epidermal growth factor receptor 2 (HER2)-negative operable breast cancer.

blind


Input: Association between the FTO gene and overweight in Japanese children and adolescents.

FTO gene

overweight


Input: We analyzed the natural killer cell immunoglobulin-like receptor (KIR) genes and immunoglobulin allotypes in the development of type 2 diabetes (T2D) based on body mass index (BMI) measurements (obese vs. non-obese) in Puerto Rican Americans.

KIR

body mass index


Input: Both drugs block anchorage-independent growth in high-grade human uterine cancer cells that overexpress HMGA1a (MES-SA cells).

uterine cancer

uterine cancer


Input: Associations between polymorphisms of SMAP1L and AIA were analyzed with sex, smoking status, atopy, and body mass index as covariates.

body mass index


Input: MEL exposure modulated the mitotic and apoptotic indices in the colonic adenocarcinomas that developed and lowered the immunohistochemical expression of nuclear factor kappa B, tumor necrosis factor alpha, interleukin-1beta and STAT3 in the epithelial malignancies.

tumor necrosis factor alpha

adenocarcinomas

tumor necrosis factor alpha

adenocarcinomas


Input: All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins.

sporadic


Input: In this study histopathological and histochemical attributes for basement membrane and connective tissue in biopsies of oral sub-mucous fibrosis (n = 55) and normal oral mucosa (n = 16) were assessed and expressions of p63, E-cadherin, β-catenin, N-cadherin and TWIST were analyzed immunohistochemically.

TWIST

fibrosis


Input: An analysis of the expression of the 6 target genes in primary medulloblastoma tumor samples and cell lines revealed overexpression of LYK5 and PIK3CG.

medulloblastoma

medulloblastoma


Input: We suggest early expression of YB-1 promotes proliferation and migration of myoFbs, whereas prolonged expression may be responsible for scar formation.

scar


Input: Stable expression of manganese superoxide dismutase (MnSOD) in insulinoma cells prevents IL-1beta-induced cytotoxicity and reduces nitric oxide production.

manganese superoxide dismutase

insulinoma


Input: Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

leber congenital amaurosis

leber congenital amaurosis


Input: The observed twofold upregulation of the DMT-1 is consistent with the slow but steady increase in body iron stores observed in those presenting with clinical features of hereditary hemochromatosis.

DMT

hereditary hemochromatosis


Input: Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described.

connexin 26

HID syndrome

connexin 26

HID syndrome


Input: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

RET proto-oncogene

multiple endocrine neoplasia type 2A

RET proto-oncogene

multiple endocrine neoplasia type 2A


Input: Loss of BRCA1 function leads to a profound increase in genomic instability involving the accumulation of mutations, DNA breaks and gross chromosomal rearrangements.

genomic instability


Input: We found that there was a highly significant difference in the hypoxic induction of VEGF in patients with no collaterals compared with patients with some collaterals (mean fold induction 1. 9 +/-0. 2 versus 3. 2 +/-0. 3, P < 0. 0001).

VEGF

hypoxic


Input: After renal transplantation, proband' s lipid profile, HDL subclass distribution, and plasma cholesterol esterification were almost at normal levels, suggesting a mild contribution of the LCAT P406L variant to his pretransplantation severe hypoalphalipoproteinemia and impairment of plasma cholesterol esterification.

LCAT

mild


Input: Given the co-stimulatory role of natural-killer group 2, member D protein (NKG2D) on CD8 (+) T cells, we investigated its ability to rescue these immunologically impotent cells.

impotent


Input: Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.

alcohol dependence

alcohol dependence


Input: Myelin transcription factor 1-like (MYT1L) is a member of the myelin transcription factor 1 (MYT1) gene family, and the neural specific, zinc-finger-containing, DNA-binding protein that it encodes plays a role in the development of the nervous system.

nervous system


Input: A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.

fundus albipunctatus

fundus albipunctatus


Input: We provide here a list of protein phosphorylation sites identified from HT-29 human colon adenocarcinoma cell line by immobilized metal affinity chromatography (IMAC) combined with liquid chromatography (LC)-tandem mass spectrometry (MS/MS) analysis.

IMAC

colon adenocarcinoma


Input: IL-6/sIL-6R transgenic mice develop a severe phenotype showing 1) marked hepatocellular hyperplasia frequently surrounded by peliosis and necrosis, 2) significant acceleration and aggravation of plasmacytoma formation, and 3) excessive activation of extramedullary hematopoiesis in spleen and liver followed by a subsequent increase of all cellular components in the peripheral blood.

hyperplasia


Input: Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

TLS

sporadic


Input: We were able to demonstrate ATP8B1 mutations in ICP.

ICP

ICP


Input: We tested for gender-specific interactions between smoking and genetic polymorphisms of monoamine oxidase B (MAO-B) intron 13 (G or A allele), monoamine oxidase A (MAO-A) EcoRV (Yor N allele), and dopamine D2 recepor (DRD2) Taq1B (B1 or B2 allele) in a case-control study of 186 incident idiopathic Parkinson' s disease (PD) cases and 296 age-and gender-matched controls.

smoking


Input: We conclude that Bcl-xL expressed in human HCC cells inhibits apoptosis produced by various cellular stresses, such as staurosporine treatment, serum starvation, and p53 activation, and may play an important role in their survival.

Bcl-xL

starvation


Input: Using expression microarrays combined with whole-genome copy number screens on individual human tumors, we identified the mammalian sterile-20-like kinase (MST4) transcript, which was amplified within chromosome Xq26. 2 in one tumor and up-regulated in all gonadotrope tumor samples.

sterile


Input: Histone H3 lysine 4 (H3K4) can be mono-, di-, and trimethylated by members of the COMPASS (complex of proteins associated with Set1) family from Saccharomyces cerevisiae to humans, and these modifications can be found at distinct regions of the genome.

mono


Input: The TNF-alpha-308 * 2 polymorphism increased in subjects with atopic asthma vs. non-atopic controls after adjusting for age distribution (adjusted odds ratios, AOR = 2. 73, 95% confidence interval, CI = 1. 16-6. 64), but was not associated with non-atopic asthma (AOR = 2. 40, 95% CI = 0. 81-7. 09).

TNF-alpha

atopic


Input: This study examined whether evidence of cerebrovascular disease in the form of magnetic resonance imaging (MRI) signal hyperintensities in white matter was associated with depressive symptoms in a high-functioning group of normal elderly volunteers.

MRI

cerebrovascular disease


Input: CD276 and the alternative checkpoint inhibition PVR/NECTIN2/CD226/TIGIT pathway emerged as relevant to PC checkpoint inhibition target development.

PC

PC


Input: Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove.

Chronic beryllium disease

Chronic beryllium disease


Input: A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

asphyxiating thoracic dystrophy

asphyxiating thoracic dystrophy


Input: In response to G-CSF, mono-/polyubiquitination of the G-CSFR was impaired in cells expressing the mutant K762R/G-CSFR compared to cells transfected with the WT G-CSFR.

CSFR

mono


Input: The histopathological findings in the hind ankle sections of CD46 Tg mice showed the stimulation of osteoclast formation associated with inflammation of the synovial membrane and the development of aggressive granulation tissue (pannus).

inflammation


Input: 2B4 (CD244) signaling by recombinant antigen-specific chimeric receptors costimulates natural killer cell activation to leukemia and neuroblastoma cells.

neuroblastoma


Input: The expression of VEGF, Ang2, ephrinB2 and EG-VEGF was detected by RT-PCR in 54 cases HCC without PVTT (group A), 9 cases HCC with PVTT (group B), 10 normal liver tissues (group D) and 10 cirrhosis tissues (group C).

EG-VEGF

cirrhosis


Input: A case-control study involving 292 prostate-cancer patients and 384 controls revealed significant differences in regard to distribution of four missense variations in genes encoding plasminogen activator inhibitor 2 (PAI2) and SERPINB10.

prostate-cancer

prostate-cancer


Input: Surprisingly, the majority of MPS IIIC patients carrying missense mutations are as severely affected as those with splicing errors, frame shifts or nonsense mutations resulting in the complete absence of HGSNAT protein. In order to understand the effects of the missense mutations in HGSNAT on its enzymatic activity and biogenesis, we have expressed 21 mutant proteins in cultured human fibroblasts and COS-7 cells and studied their folding, targeting and activity.

HGSNAT

MPS IIIC

HGSNAT

MPS IIIC


Input: We found that over-expressing NMNAT2 or its homolog NMNAT1, but not NMNAT3, in rTg4510 hippocampi from 6 weeks of age using recombinant adeno-associated viral vectors significantly reduced neurodegeneration caused by tau (P301L) over-expression at 5 months of age.

neurodegeneration


Input: Talen-mediated girdin knockout downregulates cell proliferation, migration and invasion in human esophageal carcinoma ECA109 cells.

girdin

esophageal carcinoma


Input: The quantitative evaluation of the frequency of LOH by referencing PBLs may be a useful predictor for HCC development in chronic liver diseases.

HCC

liver diseases


Input: We report that ErbB-2 overexpression enhanced binding affinities to both EGF and NDF, through deceleration of ligand dissociation rates.

NDF

dissociation


Input: The mechanism of PAK1 inhibition and induction of membranous translocation of adhesion proteins by 5-ASA might be independent of its known anti-inflammatory action.

translocation


Input: Furthermore, LASP1 overexpression contributes to cancer aggressiveness hinting to a potential value of LASP1 as a cancer biomarker.

aggressiveness


Input: Family-based analyses detected associations between prostate cancer risk or aggressiveness and a number of CYP3A4 SNPs (P-values between 0. 006 and 0. 05), a CYP3A4 haplotype (P-values 0. 05 and 0. 009 in nonstratified and stratified analysis, respectively), and two SRD5A2 SNPs in strong linkage disequilibrium (P = 0. 02).

aggressiveness


Input: Recently it has been documented that variations in the complement factor H (CFH) and LOC 387715 genes are the major risk factors that predispose individuals to dry and wet AMD.

CFH

dry


Input: Taken together, these findings suggest that suppression of Src signaling in NAc D2-MSNs, via PRMT6 and H3R2me2a down-regulation, functions as a homeostatic brake to restrain cocaine action, and provide novel candidates for the development of treatments for cocaine addiction.

cocaine addiction

cocaine addiction


Input: In contrast, treatment with PAI-1R at 0. 5 mg (kg body weight) (-1) i. p., twice daily from week 20 to 22, reduced glomerular matrix accumulation, fibronectin and collagen production and albuminuria by 36, 62, 65 and 31%, respectively (P < 0. 05), without affecting blood glucose level or body weight.

PAI

body weight


Input: Eight cases of lymphoepithelial carcinoma (LEC) of the larynx and hypopharynx were evaluated for clinicopathologic features, and the presence of the Epstein-Barr virus (EBV) and p53 alterations.

LEC

lymphoepithelial carcinoma


Input: U373, SF126, SF188) were screened for VEGF under normoxic and hypoxic (i. e.

VEGF

hypoxic


Input: Two genes (Ercc1 and Mcm5) showed a highly significant correlation with AUD-induced decreases in the volume of the left parietal supramarginal gyrus and neuropsychological measures.

AUD

AUD


Input: Although more studies are necessary, our results suggest that UCP2 is not been used as a compensatory mechanism to oppose the higher levels of oxidative stress found in BD and SCZ.

BD

BD


Input: Expression of the hypoxia-induced genes OPN, CA9, EPO, VEGF and HIF-1alpha was analyzed in three GBM cell lines, GaMG, U373 and U251, under in vitro hypoxia (1, 6 or 24h at 5%, 1% or 0. 1% O (2)) and in tumor samples from two patient groups with LGA and GBM (n = 15 each), at the mRNA level (semiquantitative RT-PCR).

VEGF

hypoxia


Input: Expression of dAPP-BP1, a NEDD8 activation enzyme subunit, in Drosophila suppresses abnormalities induced by dPINK1 RNAi.

abnormalities


Input: The data support our hypothesis that the NPY system dysregulation constitutes one of the biological underpinnings of depression and that one common mechanism of action of antidepressive treatment modalities may be effects on NPY and its receptors.

NPY

depression

NPY

depression


Input: Oral-facial-digital syndrome VI (OFD6 OMIM #277170), also called Varadi-Papp syndrome, is a ciliopathy inherited in an autosomal recessive pattern.

Varadi-Papp syndrome

Varadi-Papp syndrome


Input: We used a case-control study design (234 carcinomas, 229 high-risk adenomas, 762 low-risk adenomas and 400 controls) to test the association between dietary factors (meat versus fruit, berries and vegetables) genetic polymorphisms in biotransformation genes (GSTM1, GSTT1, GSTP1 Ile105Val, EPHX1 Tyr113His and EPHX1 His139Arg), and risk of colorectal carcinomas and adenomas.

carcinomas


Input: The present work identifies apelin as a novel adipocyte endocrine secretion and focuses on its potential link with obesity-associated variations of insulin sensitivity status.

apelin

insulin sensitivity


Input: The novel hypoxic cytotoxin, TX-2098 has antitumor effect in pancreatic cancer; possible mechanism through inhibiting VEGF and hypoxia inducible factor-1α targeted gene expression.

VEGF

hypoxic


Input: Although U0126, an ERK inhibitor, enhanced insulin sensitivity and attenuated oxidative stress-induced insulin resistance, LY294002, an inhibitor of phosphoinositide 3-kinase (PI3K), worsened the insulin resistance.

insulin resistance


Input: Reexpression of either of two of the silenced genes, HOXB13 and SYK, resulted in reduced colony formation in vitro and diminished tumor formation in vivo, indicating that these genes function as tumor suppressors in melanoma.

SYK

melanoma

SYK

melanoma


Input: Here we compared PPARalpha knockout mice with wild type and confirmed that the former developed hypoglycemia during fasting.

PPARalpha

hypoglycemia

PPARalpha

hypoglycemia


Input: Our findings indicate that mutations in the ABCA1 gene are associated with TD as well as FHA.

TD

TD


Input: EBV (-) BL was characterized by high-level expression of amyloid beta precursor protein (APP), heat shock 27 kD protein 1 (HSPB1) and mothers against decapentaplegic homolog 1 (MADH1).

shock


Input: Therefore, SK1 inhibitors may offer therapeutic potential in promoting the removal of AR receptors from prostate cancer cells, resulting in an increased efficacy, which is likely to be superior to inhibitors that simply reversibly inhibit AR signalling.

prostate cancer


Input: Deranged expression and function of the E-cadherin/beta-catenin (E-cad/beta-cat) complex and the epidermal growth factor receptor (EGFR) have been implicated in the development and progression of carcinomas.

beta-catenin

cad


Input: We identified one previously unknown missense variation in the hinge region (HinR) of the TSHR gene (p. S304R) in one patient with thyroid hypoplasia.

TSHR

thyroid hypoplasia

TSHR

thyroid hypoplasia


Input: Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

phosphoenolpyruvate carboxykinase deficiency

phosphoenolpyruvate carboxykinase deficiency


Input: Here, we describe a French family with a parkinsonian-pyramidal syndrome harboring a novel heterozygous SNCA mutation.

SNCA

parkinsonian-pyramidal syndrome

SNCA

parkinsonian-pyramidal syndrome


Input: As IL-6 and PAI-1 secretion was also lowered in lapachol-treated hypertrophic scar fibroblasts, our findings suggested that lapachol may have suppressed extracellular matrix hyperplasia in wound healing and possibly alleviated the formation of hypertrophic scar.

hyperplasia


Input: In the presence of hypoxia, the E. coli PNP gene directed by the [HRE] AF promoter were HCC-specifically expressed in two human HCC cell lines and, moreover, the [HRE] AF-PNP/MeP-dR therapy would yield significant and selective cytotoxicity in both AFP-positive and low-AFP-generating HCC cells.

AFP

hypoxia


Input: GAD and blood-injury phobia are both significantly associated with suicidal attempt with opposite effects.

GAD

suicidal


Input: In this study, we investigated the effects of caffeine on HIF-1 protein accumulation and on VEGF and IL-8 expression in the human colon cancer cell line HT29 under hypoxic conditions.

VEGF

hypoxic


Input: DISCUSSION: Three members of the EGF family are dysregulated in placentas with preeclampsia, whereas p110/EGFR, a potential EGF receptor antagonist, is overexpressed.

EGFR

preeclampsia


Input: Mutations in other regulatory genes such as HESX1, PROP1, PIT1/POU1F1, and GLI2 have been shown to be additional causes of pituitary hormone deficiency, but overall, the etiology of many cases of hypopituitarism is not understood.

pituitary hormone deficiency


Input: Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis.

sporadic


Input: Non-invasive MCF-7 breast adenocarcinoma cells were transfected with YB-1/EGFP.

breast adenocarcinoma


Input: The different percentages of severe and mild CYP21A2 gene mutations found in PP children compared with adult NCCAH patients is an indirect evidence that the enzyme defect is under-diagnosed in childhood, and it might not lead to the development of hyperandrogenic symptoms in adulthood.

CYP21A2 gene

mild


Input: In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features.

translocation


Input: Because photoimmune suppression is a risk factor for skin cancer development, we hypothesize that Er-beta deficiency will promote skin tumour growth.

Er-beta

skin cancer


Input: To determine whether miR-19a plays a role in laryngeal squamous cell carcinoma (LSCC), we used quantitative real time PCR to detect miR-19a expression in LSCC tissues.

laryngeal squamous cell carcinoma


Input: We performed a study of eleven variants in/near genes TMEM18, SH2B1, KCTD15, PCSK1, BDNF, SEC16B, MC4R, and FTO in Czech adolescents and analysed their association with obesity, metabolic syndrome and related traits.

metabolic syndrome


Input: We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene.

HGSNAT

MPS IIIC

HGSNAT

MPS IIIC


Input: In this study, we investigated the mechanisms participating in JNK phosphorylation in the context of a refractory cancer disease, malignant mesothelioma (MM).

JNK

refractory cancer


Input: Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

kyphosis

kyphosis


Input: Inactivation of the PI3K/AKT pathway rescued DRAM translocation to mitochondria; subsequently, mitochondrial DRAM induced apoptosis in HCC cells by mediating mitophagy.

AKT

translocation


Input: Host cell reactivation (HCR) of beta-gal activity for UV-irradiated Ad5HCMVlacZ was examined in non-irradiated and UV-irradiated nucleotide excision repair (NER) proficient normal human fibroblasts, xeroderma pigmentosum (XP) group C fibroblasts which are defective in the global genomic repair (GGR) pathway of NER and Cockayne syndrome (CS) fibroblasts which are defective in the transcription coupled repair (TCR) pathway of NER.

HCR

xeroderma pigmentosum


Input: In addition, a statistically significant difference was observed between MCP-1-2518 A/G polymorphism and waist to hip ratio.

waist to hip ratio


Input: By RT-PCR, AFP and PSA mRNA were detected in several tumors, including salivary pleomorphic adenoma, hilar bile duct carcinoma, pancreatic carcinoma, transitional cell carcinoma of urinary bladder and thyroid papillary carcinoma.

AFP

transitional cell carcinoma of urinary bladder


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

FNMTC

FNMTC


Input: A second causative gene for a subset of ALS is fused in sarcoma, an RNA binding protein that also forms cytoplasmic inclusions in spinal cord motor neurons.

RNA binding protein

sarcoma


Input: To identify Gcm2 transcripts in human non-neural tissues and to examine whether Gcm2 is involved in parathyroid gland tumorigenesis we analysed Gcm2 transcript levels in several non-neural tissues by reverse transcriptase polymerase chain reaction (RT-PCR) and performed real-time quantitative RT-PCR analysis on five normal glands, 15 parathyroid adenomas of primary hyperparathyroidism (HPT) and nine hyperplastic glands of secondary HPT.

HPT

tumorigenesis


Input: Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS, and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy.

atrophy


Input: Tissue-specific deletion of platelet beta3-integrins in beta3KOP mice did not affect bone mass but resulted in a severe bleeding phenotype.

bone mass


Input: HDC and v-MAT2 immunoreactivities (IR) have recently been detected in well-differentiated neuroendocrine tumors (WDNETs) and poorly differentiated neuroendocrine carcinomas (PDNECs) of various sites and have been proposed as general endocrine markers.

HDC

neuroendocrine tumors


Input: Diagnostic utility of thymic epithelial markers CD205 (DEC205) and Foxn1 in thymic epithelial neoplasms.

epithelial neoplasms


Input: Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

HELIX syndrome

HELIX syndrome


Input: Areas of increased FAF in patients with late ARM (choroidal neovascularization or geographic atrophy) showed normal or only mildly abnormal photopic, but severely reduced scotopic, sensitivity.

FAF

geographic atrophy


Input: B1a lymphocytes (CD5 +) are the major contributors of natural antibodies (Ab) implicated in the initial protection against several infections.

infections


Input: In this study we report analysis of the CYP11B1 genes of three patients thought to suffer from non-classic 11 beta-hydroxylase deficiency.

11 beta-hydroxylase deficiency

11 beta-hydroxylase deficiency


Input: Finally, in puromycin aminonucleoside-induced rat nephrosis, an apparent reduction in the levels of Gal-1 and nephrin around the onset of heavy proteinuria was also revealed.

nephrin

heavy proteinuria


Input: In patients with a mild form of the disease and no detectable mutation CYP21 gene polymorphisms should be considered as a plausible disease-causing mutation.

mild


Input: RKIP miRNA silencing and its inducible overexpression were employed in HEK-293 immortalized cells, HT29 and HCT116 colon cancer cell lines to further investigate our aim.

RKIP

colon cancer


Input: Moyamoya disease (MMD) is a rare cerebrovascular disorder involving stenosis of the major vessels of the circle of Willis and proximal portions of its principal branches.

MMD

cerebrovascular disorder


Input: RER + gastric carcinomas therefore share several important features with RER + colonic tumours, including less frequent nodal invasion, improved prognosis, a similar frequency of mutation in growth control genes containing repetitive nucleotide sequences, and a low frequency of mutation of the p53 tumour suppressor gene.

RER

carcinomas


Input: The subset of CD4 (+) CD28 (null) T cells was expanded in patients with UA and infrequent in patients with stable angina (median frequencies: 10. 8% versus 1. 5%, P < 0. 001).

stable angina


Input: The PCR array revealed down-regulation of the migration inhibitor CD26/DPPIV and up-regulation of angiogenic factors (vascular endothelial growth factor A, C-X-C motif Ligand 6; CXCL6) in endometriotic ESCs under hypoxia.

vascular endothelial growth factor A

hypoxia


Input: Here, we demonstrate that a mutation in VIM causes a dominant, pulverulent cataract.

VIM

pulverulent cataract

VIM

pulverulent cataract


Input: All RER positive carcinomas were identified by the immunohistochemical test.

RER

carcinomas


Input: We present a patient with a clinical and molecular diagnosis of ODD and lower limb lymphoedema.

ODD

lymphoedema


Input: Based on the absence of identifiable DNA sequence alterations in these forms of parathyroid dysfunction, it is unlikely that mutation of the PTH 3'-UTR contributes frequently to their pathogenesis.

UTR

parathyroid dysfunction


Input: Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.

autism

autism


Input: Results suggest that co-expression of the 2 beta3 integrins, alphavbeta3 and alphaIIbbeta3, in human melanoma cells enhanced cell survival and promoted growth in vivo.

melanoma


Input: Control of plasma viraemia could be predicted from carriage of allele 2 at position-889 in the IL1A gene (IL1A-889 * 2).

viraemia


Input: Both asthma and COPD are associated with elevated bronchial mucosal expression of TSLP and the same Th1-and Th2-attracting chemokines.

asthma


Input: The patients also exhibit alterations in GH and PTH-calcium function, and 1 of them has decreased bone mineral density.

PTH

bone mineral density


Input: Among low-to-moderate drinkers, a smoking-dependent carcinogenetic effect for the ADH1B * 1/* 1 and ALDH2 * 1/* 2 + * 2/* 2 genotypes was recognized, with significant risks found in smokers, but not in nonsmokers.

smoking


Input: This study analysed mRNA expression of two members of the methyl-CpG-binding protein family-MeCP2 and MBD2-in human non-neoplastic (n = 11) and neoplastic (n = 57) breast tissue specimens using a quantitative real-time PCR method.

CpG-binding protein

non-neoplastic


Input: In the process, we demonstrated that within complex and dynamic communities, the Streptococcus milleri group (SMG) can establish chronic pulmonary infections and at the onset of 39% of acute pulmonary exacerbations, SMG is the numerically dominant pathogen.

SMG

pulmonary infections


Input: To investigate the independent and combined effects of the Trp64Arg polymorphism of the beta3-adrenergic receptor (beta3AR) gene and the (-3826) A--> G polymorphism of the uncoupling protein 1 (UCP1) gene on body weight change in type 2 diabetic and non-diabetic control subjects during a 10y follow-up study.

body weight change


Input: DNA mismatch repair (MMR) protein analysis by immunohistochemistry (IHC) can identify colorectal cancer (CRC) with microsatellite instability (MSI).

MMR

microsatellite instability


Input: The results indicate that ischemia-reperfusion induces differential changes in PLC isozymes.

PLC

ischemia


Input: Infection of Ad-HSP20, but not control adenovirus (Ad-GFP), reduced viability, and induced massive apoptosis in a time-dependent manner.

adenovirus


Input: Of note, a hereditary lymphoedema-linked mutant of VEGFR-3 was not phosphorylated by H (2) O (2) treatment.

hereditary lymphoedema

hereditary lymphoedema


Input: In conclusion, the TGF-& #946; and LPS-induced miR-942 mediates HSC activation through downregulation of BAMBI in human liver fibrosis.

BAMBI

liver fibrosis

BAMBI

liver fibrosis


Input: We report that autoimmune regulator (Aire), a transcriptional regulator, is inducibly expressed in human and mouse tumor keratinocytes in a K17-dependent manner and is required for timely onset of Gli2-induced skin tumorigenesis in mice.

tumorigenesis


Input: Using multiple linear regression analysis, an equation was developed (adjusted R² = 0. 73; p < 0. 0001) that included positive [preoperative LVM, microRNA-133a, serum response factor (SRF, which is known to be a transactivator of miR-133) and age] and negative [body mass index (BMI), Wolf-Hirschhorn syndrome candidate-2 (WHSC2, which is a target for repression by miR-133a), β-myosin heavy chain, myosin light chain-2, diabetes mellitus, and male gender] independent predictors of LVM reduction.

diabetes mellitus


Input: Thus, mutations in the WAF1 gene are rare in tumors with or without p53 mutations, suggesting that except in a minor population of breast cancer patients of Caucasian origin, cell cycle dysregulation by mutated p53 or WAF1 genes may not contribute to breast tumor initiation or progression.

tumor initiation


Input: We previously reported a positive association among body mass index, single nucleotide polymorphisms (SNP) in the leptin and leptin receptor genes that are involved in body weight regulation, and non-Hodgkin lymphoma (NHL).

leptin receptor

body weight


Input: We tested risk associations in patients with sporadic NET and non-cancer controls, using a custom array containing 1536 single-nucleotide polymorphisms (SNPs) in 355 candidate genes.

NET

sporadic


Input: We previously showed that a-232C > G promoter polymorphism within a cis-acting element required for basal and cAMP-mediated PCK1 gene transcription results in loss of negative regulation by insulin, contributing to worsened metabolic control in the context of insulin resistance.

PCK1 gene

insulin resistance


Input: We identified strong associations to individual disorders, such as growth hormone releasing hormone (GHRH) with anxiety disorders, prolactin regulatory element (PREB) with eating disorders, ionotropic kainate glutamate receptor 5 (GRIK5) with bipolar disorder and several SNPs associated to several disorders, that may represent individual and related disease susceptibility factors.

glutamate receptor 5

bipolar disorder

glutamate receptor 5

bipolar disorder


Input: Further evidence of HO-1 expression associated with atherogenesis has been demonstrated in human, murine and rabbit atherosclerotic lesions.

atherogenesis


Input: These changes were accompanied by reduced hypoxia in the tumor core and reduced expression of the angiogenic factor VEGF-A.

VEGF-A

hypoxia


Input: In the pedigree analysis, defects in insulin binding were also observed in the mother, maternal grandfather and two maternal aunts, corresponding with the abnormality of the insulin receptor gene and mild insulin resistance.

insulin receptor gene

mild


Input: BNIP3 (Bcl-2/adenovirus E1B Nineteen Kilodalton Interacting Protein) is a pro-cell death member of the Bcl-2 family of proteins.

adenovirus


Input: Active sarcoidosis is considered to be a Th1 dominant condition.

sarcoidosis


Input: The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer.

hereditary prostate cancer

hereditary prostate cancer


Input: The amount of secreted VEGF was also elevated in hypoxic cultures.

VEGF

hypoxic


Input: Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series.

MRI

breast cancer


Input: Thus, PKCι and SOX2 are genetically, biochemically, and functionally linked in LSCC, and together they drive tumorigenesis by establishing a cell-autonomous Hh signaling axis.

tumorigenesis


Input: Recently, mutations in the Fused in sarcoma gene (FUS) were identified in familial (FALS) ALS cases and sporadic (SALS) patients.

FUS

sporadic


Input: The interstitial expression of these mRNA forms was similar in IgA nephropathy, non-IGA mesangial proliferative glomerulonephritis, and lupus nephritis and correlated positively with the degree of tubulo-interstitial changes.

IGA

lupus nephritis


Input: Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

chromosome deletion


Input: Concurrent analysis of inhibitory receptors (KIR2DL1, KIR2DL2/3, KIR3DL1 and NKG2A) and NK cell degranulation upon co-culture with myeloma cells revealed that KIR-ligand-mismatched NK cells degranulate more than matched subsets and that HLA-E abrogates degranulation of NKG2A + subsets.

myeloma


Input: These results indicate that massive albuminuria causes tubular damage and lipid accumulation with the reduction of MCAD, CYP4A, PGC-1α, and ERRα in PTECs.

albuminuria


Input: No translocation including immunoglobulin genes was identified by spectral karyotyping (SKY) analysis.

SKY

translocation


Input: Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.


Input: Expression of anti-inflammatory protein HO-1, MT, TGF-β and IL-6 were increased after hypoxic preconditioning.

TGF-β

hypoxic


Input: The following factors were significantly associated with a lack of SVR: donor age > or = 50 years (P =. 046); donor body mass index (BMI) > 27 (P =. 016); genotype 1 versus 2 to 3 (P = 0. 010), aspartate transferase (AST) before therapy > or = 140 U/L (P =. 046), alanine transferase before therapy > or = 280 U/L (P =. 055), use of natural IFN versus pegylated IFN (P =. 016).

AST

body mass index


Input: Knockdown of DEPP prevented the primary and secondary ROS wave during FOXO3 activation and attenuated FOXO3-and H2O2-induced apoptosis.

DEPP

secondary


Input: Sanger sequencing of the coding exons and splice junctions of the ASB10 gene was performed in 30 probands of multiplex POAG families, 208 sporadic POAG patients and 151 healthy controls from Pakistan.

ASB10 gene

sporadic


Input: The nuclear transactive response DNA-binding protein 43 (TDP-43) undergoes relocalization to the cytoplasm with formation of cytoplasmic deposits in neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).

DNA-binding protein

amyotrophic lateral sclerosis


Input: The MZ B cells and IEBCs showed a high-proliferation fraction and a CD20 (+), CD21 (+), CD27 (-), immunoglobulin (Ig) superfamily receptor translocation-associated 1-positive (IRTA-1 (+)), CD43 (+), multiple myeloma oncogene 1 (MUM-1), IgM (+) D (+) phenotype.

translocation


Input: STRAD in Peutz-Jeghers syndrome and sporadic cancers.

STRAD

sporadic


Input: To examine the severity of acute experimental pancreatitis in transgenic mice expressing human PLA2 compared with mice not expressing PLA2.

pancreatitis


Input: Abnormal expression and genetic polymorphism of SLC6A3 and SLC6A4 genes may increase the risk of developing mental illness, such as schizophrenia, bipolar disorder, ADHD, and aggressive behavior in Alzheimer disease, etc.

aggressive behavior


Input: These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport.

PCFT

HFM

PCFT

HFM


Input: Mitochondrial enzyme activities (citrate synthase and succinate dehydrogenase) were maintained during hypertrophy and decreased by ≈ 40% (P < 0. 05 versus control) at the stage of failure.

citrate synthase

hypertrophy


Input: These results suggest that Huh7. 5 cells either infected with HCV or ectopically expressing HCV NS5A alone have the potential to induce insulin resistance by the phosphorylation of IRS-1 at serine residue (Ser (307)) followed by decreased phosphorylation of Akt Thr (308), Fox01 Ser (256) and GSK3β Ser (9), the downstream players of the insulin signaling pathway.

insulin resistance


Input: We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED.

CHED

CHED


Input: However, multivariate Cox regression with the influential parameters revealed a significant effect of c-kit expression on survival.

c-kit

regression


Input: Subjects with urinary tract infections, hyperparathyroidism, cystinuria > 70 micromol/24 h, gouty diathesis, renal tubular acidosis, renal failure, chronic diarrhoeal states, intake of thiazide diuretics, angiotensin-converting enzyme (ACE)-inhibitors, glucocorticoids or oestrogens were excluded.

ACE

cystinuria


Input: Silencing Drp1 or overexpression of Mfn1 resulted in mitochondria elongation or clusters, respectively, and significantly suppressed metastatic abilities of breast cancer cells.

breast cancer


Input: Here we illustrate how such data sets can expedite disease-gene discovery, by using them to identify the gene causing Leigh syndrome, French-Canadian type (LSFC, Online Mendelian Inheritance in Man no.

LSFC

Leigh syndrome, French-Canadian type

LSFC

Leigh syndrome, French-Canadian type


Input: Over 90% of SS cases are characterized by the t (X; 18) (p11. 2; q11. 2) translocation, which results mainly in the formation of oncogenic SS18-SSX1 or SS18-SSX2 fusions.

translocation


Input: In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly.

tensin

glioblastoma


Input: These findings implicate somatic genetic defects of Cx43 as a potential cause of AF and support the paradigm that sporadic, nonfamilial cases of lone AF may arise from genetic mosaicism that creates heterogeneous coupling patterns, predisposing the tissue to reentrant arrhythmias.

sporadic


Input: Aberrations of chromosome 13q in gastrointestinal stromal tumors: analysis of 91 cases by fluorescence in situ hybridization (FISH).

FISH

gastrointestinal stromal tumors


Input: Our data demonstrate that DNA methylation and histone methylation analysis of the ICR within the DMR of IGF2/H19 provides important insights into early steps of carcinogenesis and, therefore, may contribute to improving diagnosis of PCa.

DMR

carcinogenesis


Input: Our study indicated that the smoking dose predicted EGFR mutations with a moderate diagnostic accuracy.

EGFR

smoking


Input: Following silencing of CSN5, resistance to sorafenib was reversed, and multi-drug‑resistance proteins, including as adenosine triphosphate binding cassette (ABC) B1, ABCC2 and ABCG2 as well as CDK6, cyclin D1 and B‑cell lymphoma 2 were downregulated.

lymphoma


Input: IL-17F: regulation, signaling and function in inflammation.

inflammation


Input: These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.

CHOPS syndrome

CHOPS syndrome


Input: Knockdown of MTDH expression in HCC cell lines resulted in downregulation of N-cadherin and snail, upregulation of E-cadherin, and translocation of β-catenin.

E-cadherin

translocation


Input: The ability of FN to induce EMT shows an active role for the stromal ECM in this process and supports the notion that the increased levels of FN observed in breast tumors facilitate tumorigenesis.

ECM

tumorigenesis


Input: The translocation results in a fusion of two known genes, ETV6/TEL (12p13) and AML1 (21q22), previously shown to be involved in the pathogenesis of myeloid disorders.

translocation


Input: When CRC is diagnosed, the surgeon is in the ideal position to order appropriate tumor testing for microsatellite instability or immunohistochemical stains for loss of MMR gene associated protein, if this has not already been done.

MMR

microsatellite instability


Input: Quercetin was found to be effective against Cd-induced dysexpression of RST and OAT1 with XOR hyperactivity and impairment of AMPK-PPARα/PGC-1β signal pathway, resulting in renal lipid accumulation reduction of rats.

RST

hyperactivity


Input: Group 2 (3 patients) mild neurologic symptoms that did not prevent independent lives, HPRT activity was detectable in intact erythrocytes, and the protein size was normal.

HPRT

mild


Input: Compared with NTg HF, Tg-IκBα (S32A, S36A) HF mice exhibited: (i) improved survival, chamber remodelling, systolic function, and pulmonary congestion, (ii) markedly diminished NF-κB p65 activation, cytokine expression, and fibrosis, and (iii) a three-fold reduction in apoptosis.

IκBα

fibrosis


Input: Our findings suggest that PBMC p11 mRNA expression levels may serve as a potential biomarker to distinguish PTSD from BP, MDD and SCZ.

BP

BP


Input: Immunofluorescence analysis of tumor sections revealed areas of HIF-1alpha nuclear expression, suggesting areas of hypoxia, in both control tumors and VEGF-suppressed tumors.

VEGF

hypoxia


Input: Although HSF1 has been identified as a driver of carcinogenesis, HSF2 has not been explored in malignancies.

carcinogenesis


Input: Recent studies have characterized fatty acid transport protein (fatp) mutants in Drosophila and C. elegans, establishing new models of cardiomyopathy, retinal degeneration, fat storage disease and dermopathies.

fatp

retinal degeneration


Input: Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.

SRRT

major depression

SRRT

major depression


Input: Increased trisomy and monosomy of chromosomes 7 and 8 were observed in CD34 (+) cells (P (trend) < 0. 001), whereas in CD34 (-) cells only an increased level of monosomy 7 was detected (P (trend) = 0. 002).

trisomy


Input: Thus, targeting the CHI3L1 molecule may be a potential therapeutic molecular target for gliomas.

gliomas

gliomas


Input: To study the expression of leukemia inhibitory factor (LIF), its receptors LIFR and gp130, and its inhibitor SOCS1 in endometria from fertile women and infertile women with unexplained infertility.

LIFR

infertile


Input: Molecular biological analyses of the induced lesions revealed point mutations in the p53 gene in 60. 9% of HCCs, and elevated expression of mRNAs for p53, c-myc, c-fos, TGF-alpha, TGF-beta1, alpha-fetoprotein, GST-P, and GGT, and decreased mRNA expression of EGF and EGFR in HCCs when compared to controls.

HCC

HCC


Input: Methylation specific PCR showed that UNC5C promoter was methylated in two renal carcinoma cell lines.

renal carcinoma

renal carcinoma


Input: Heterozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML, MIM 601399).

MIM

platelet disorder


Input: The t (X; 18) (p11. 2; q11. 2) translocation commonly found in synovial sarcoma (SS) results in the fusion of the SYT gene on chromosome 18 to either of two closely related genes, SSX1 and SSX2, on chromosome X.

translocation


Input: MRI did not show frank APH (by height criteria) in any of the subjects: pituitary height was normal (5. 6 mm, + 1. 8 SDS) in the oldest sibling, and it was low but not below 2 SDS by age-adjusted criteria in the second (3 mm,-1. 4 SDS), and third sibling (2. 8 mm,-1. 7 SDS).

APH

height


Input: The DPD mRNA level in HCC (4. 31 +/-4. 21) was lower than that in adjacent liver (6. 53 +/-2. 93) (p & lt; 0. 001).

DPD

HCC

DPD

HCC


Input: Univariate analysis revealed associations of the FTO gene variants with the values of blood pressure, triglycerides, fasting glucose and HOMA insulin resistance index.

FTO gene

insulin resistance


Input: Instead we found that ectopic expression of KSHV-GPCR potently induces the kinase activity of Akt/protein kinase B in a dose-dependent manner and triggers its translocation to the plasma membrane.

protein kinase B

translocation


Input: Our data also demonstrate that, among infertile men with varicocele, severely oligozoospermic and OAT men with varicocele have higher incidences of genetic defects than mildly oligozoospermic and azoospermic men.

OAT

varicocele


Input: Further, the heart weight/body weight ratio between MYLK3-Tg and MYLK3-WT mice and between GPR37L1-Tg and GPR37L1-KO mice differed significantly.

body weight


Input: Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews.

constriction


Input: In both the ovarian surface and inclusion cyst epithelia, the percentage of cells was determined that stained positively for Ki67, p21, p27, p53, cyclin A, cyclin D1, bcl-2 and the presence of HER-2/neu, oestrogen (ER-alpha) and progesterone receptors (PR).

ER-alpha

inclusion cyst


Input: We found stronger expression of RGC-32 and higher abnormal expression rate of E-cadherin in pancreatic cancer tissues than those in chronic pancreatitis tissues and normal pancreatic tissues.

E-cadherin

chronic pancreatitis


Input: In contrast to the broad expression of both CMTM3 and CMTM4 in normal human adult tissues, only CMTM3 is silenced or down-regulated in common carcinoma (gastric, breast, nasopharyngeal, esophageal, and colon) cell lines and primary tumors.

esophageal


Input: We found differential DNA methylation at 53 sites in SAT from LBW vs normal birthweight (NBW) men (false discovery rate < 5%), including sites in the FADS2 and CPLX1 genes previously associated with type 2 diabetes.

birthweight


Input: Only 1 case showed a BCL2 translocation, reflecting a double-hit case with features intermediate between DLBCL and Burkitt lymphoma.

translocation


Input: The Bcl-x, Mcl-1, Bad, and Bax proteins were also expressed in all CTCL skin lesions tested.

Bcl-x

skin lesions


Input: The membrane protein tyrosine phosphatase receptor U (PTPRU) has been shown to function as a negative regulator of adhesion and proliferation in certain cancer cell types, primarily through its dephosphorylation of β-catenin and inhibition of subsequent downstream signaling.

PTPRU

adhesion


Input: With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S--& gt; X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA.

TD

TD


Input: We identified 113 candidate genes for congenital heart defects within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3, and TCTE3.

ERMARD

congenital heart defects


Input: Thus, s/s homozygous participants required minimal exposure to TLE (1 TLE) to acquire a level of risk for depression that was only found among l/s or l/l individuals after significantly higher exposure to TLEs (two or more TLEs).

TLE (1

depression

TLE (1

depression


Input: In addition, the adenovirus-mediated reexpression of Gadd45gamma significantly inhibited the proliferation of anaplastic thyroid carcinoma cells, ARO, FRO, and NPA cells, which was attributed to apoptosis.

ARO

adenovirus


Input: Our recent observations indicate that AEG-1 exerts its effects by activating the nuclear factor kappa B (NF-kappaB) pathway and AEG-1 is a downstream target of Ha-ras and plays an important role in Ha-ras-mediated tumorigenesis.

tumorigenesis


Input: Significant learning difficulties were present in the three patients with megabase-sized deletions, which suggests that haploinsufficiency of genes neighboring TWIST contributes to developmental delay.

TWIST

learning difficulties


Input: In conclusion, expression of GPX2 is associated with cancer metastasis from rat HCCs both in vitro and in vivo.

metastasis

metastasis


Input: The expression of two somatostatin receptor subtypes, SSTR1 and SSTR2, was studied in 27 pituitary tumors and 1 chronic lymphocytic leukemia pituitary infiltrate.

chronic lymphocytic leukemia


Input: We investigated the influence of alpha6beta1 on vascular endothelial growth factor (VEGF) expression because autocrine VEGF is necessary for the survival of serum-deprived cells in hypoxia.

VEGF

hypoxia


Input: IL-17A, and possibly IL-17F, may contribute to amplification and persistence of inflammatory processes implicated in inflammation-associated cancer.

inflammation


Input: DRD4 allelic variation may be a prognostic biomarker for challenging behaviors in children with autism spectrum disorder, but these exploratory findings remain tentative pending replication with larger independent samples.

autism spectrum disorder

autism spectrum disorder


Input: A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5.

postaxial polydactyly


Input: ML4 mutations are shown to impair the ability of TRPML1 to permeate Fe (2 +) at varying degrees, which correlate well with the disease severity.


Input: Although overexpressing ASC in metastatic melanoma showed no effects on cell viability, silencing ASC with short hairpin RNA induced G1 cell cycle arrest, reduced cell viability, and suppressed tumorigenesis in metastatic melanoma.

ASC

tumorigenesis


Input: To characterize the role of the kallikrein-kinin system in diabetic cardiopathy, we studied the effect of streptozotocin (STZ) on the regulation of the myocardial bradykinin (BK) receptors, the B1 and B2 type, and two tissue kallikrein genes, rat kallikrein 1 (rKLK1) and rKLK7, in severely hyperglycemic rats.

STZ

cardiopathy


Input: HIFalpha can then dimerize with HIFbeta and translocate to the nucleus, where it will transcriptionally upregulate a series of hypoxia-responsive genes, including vascular endothelial growth factor (VEGF), platelet-derived growth factor (PDGF), and others.

VEGF

hypoxia


Input: These results identify a novel chemoresistance mechanism in malignant gliomas and show that combination of drugs capable of suppressing GRP78 with conventional agents such as temozolomide might represent a novel approach to eliminate residual tumor cells after surgery and increase the effectiveness of malignant glioma chemotherapy.

residual tumor


Input: To maximize the safety and efficacy of ETAR-targeted OC therapy, we investigated the role of other G protein subunits such as G & #945; s in the ETAR-mediated ovarian oncogenic signaling.

ETAR

OC

ETAR

OC


Input: Thus, we examined the expression of AGR2 and its tumor-promoting activity in biliary tract cancer cells in this study.

biliary tract cancer


Input: Rat C6 or human U87 glioma cells were then introduced into the culture to evaluate VSV as an oncolytic therapy.

glioma


Input: In order to validate and prioritize the key genes that drive behavior without some of the pleiotropic environmental confounds present in humans, we used a stress-reactive animal model of alcoholism developed by our group, the D-box binding protein (DBP) knockout mouse, consistent with the surfeit of stress theory of addiction proposed by Koob and colleagues.

DBP

addiction


Input: The same HNF1A coding variants were associated with higher low-density lipoprotein cholesterol, apolipoprotein B, creatinine, and fibrinogen in EA.

fibrinogen


Input: Because NER (plaque) was higher for inversion-recovery fast spin echo than for fast spin echo, but with high inter-scan variability, repeated inversion-recovery fast spin echo imaging and averaging of the obtained NER (plaque) values is recommended.

NER

plaque


Input: Mutations throughout the ADAMTS13 gene have been identified in congenital TTP patients, most of whom have initial episodes during infancy or in early childhood.

congenital TTP

congenital TTP


Input: The immunocytochemical demonstration of BCL2 protein overexpression in at least some cases of MM has suggested the possibility of translocation-mediated deregulation of the BCL2 proto-oncogene.

translocation


Input: These data suggest that UTR-related pathway may play a role in colon carcinogenesis and that UTR may function as a target for therapeutic intervention in colon cancer.

UTR

carcinogenesis


Input: Silencing the MET oncogene leads to regression of experimental tumors and metastases.

MET oncogene

regression


Input: To study the relationship between prognosis and pathological characteristics, proliferating cell nuclear antigen labeling index (PCNA-LI) and DNA index (DI) in patients with moderately differentiated hepatocellular carcinoma (HCC).

HCC

moderately differentiated hepatocellular carcinoma


Input: Investigation of functional relationships between the eight fine-mapped genes using Ingenuity Pathway Analysis identified a single functional network (p = 10 (-13)) containing five fine-mapped genes-LNX1, CAMK2D, ZFHX3, CSMD1, and TCP1-with functional relationships potentially related to inflammation, apoptosis, and cardiovascular pathology.

cardiovascular pathology


Input: CLP resulted in a poor survival rate, evidence of hippocampal oxidative injury, cell apoptosis and cognitive dysfunction as well as elevated TNF-α level and caspases activities, increased weight loss and clinical scores.

CLP

cognitive dysfunction


Input: These data indicate that TXR1/TSP1 and BRCA1 expression could be used for the prediction of taxanes' resistance in the treatment of NSCLC.

NSCLC

NSCLC


Input: Our results suggest that glutamate plays a key role in cue-induced relapse to cocaine-seeking behavior, implicating GLT1 as a potential therapeutic target for cocaine addiction.

cocaine addiction

cocaine addiction


Input: Within-family analyses of linkage disequilibrium, using the TDT, suggested association and linkage of ADHD with DAT1 and that this relation was especially strong with the combined but not the inattentive subtype.

TDT

inattentive


Input: In the CAM experimental glioma, IL6 or VEGF knockdown reduced growth and vascularization of the tumors with a comparable efficiency, but increased invasion of residual tumor cells.

VEGF

residual tumor


Input: The aim of this study was to determine whether modulation of E-cadherin-mediated homophilic and heterotypic interactions between keratinocytes and LCs is involved in these abnormalities of LCs in (pre) neoplastic cervical epithelium.

E-cadherin

abnormalities


Input: In all, 11 independent GWL studies of either neuroticism (n = 8) or anxiety disorders (n = 3) were collected, which comprised of 5341 families with 15 529 individuals.

GWL

anxiety disorders


Input: The HAL-1/13-Ku80 antigen is present on the surface of leukemic and solid tumor cell lines, including T and B lymphomas, myeloid leukemias, neuroblastoma, rhabdomyosarcoma, and breast carcinoma cells.

HAL

myeloid leukemias


Input: When the mouse enteroendocrine STC-1 cell line was transfected with the human preproinsulin gene, driven either by the K-cell specific GIP promoter or by the constitutive cytomegalovirus (CMV) promoter, human insulin co-localizes in vesicles that contain GIP (GIP or CMV promoter) or GLP-1 (CMV promoter).

GIP

cytomegalovirus


Input: Furthermore, staurosporine, a nonselective PKC inhibitor, prevented the induction of VEGF by hypoxia.

VEGF

hypoxia


Input: MCM-2 is a therapeutic target of Trichostatin A in colon cancer cells.

colon cancer

colon cancer


Input: Further studies confirmed that P13K/AKT and p38/MAPK signaling was involved in miR-543/TRPM7 axis mediated CC progression.

CC

CC


Input: Monolayer cultures of glioma cell lines expressing mutant p53 (U251 and U373) or wild-type p53 (U87 and D54) were infected with Ad-p53 and analyzed by Western blotting.

glioma


Input: We also found that MWEs initially activate JNK/p38 and p53, which in turn activate both Fas-ligand and mitochondria pathways, thereby causing mitochondria translocation of Bax and the reduction of Bcl-2 that trigger the cleavage of procaspases, finally resulting in apoptosis of VSMCs.

translocation


Input: This report describes the first putative mutations, p. L70P and p. R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.

ataxia

ataxia


Input: In this project, we evaluated the effects of silibinin, a natural plant component of milk thistle seeds, to potentiate toxic effects of chemotherapy drugs such as temozolomide, etoposide and irinotecan on LN229, U87 and A172 (P53 and phosphatase and tensin homolog (PTEN)-tumor suppressor-mutated) glioma cell lines.

glioma


Input: In this study, we investigated 34 cases of HD (10 LP, 14 NS, and 10 MC) for bcl-2 gene rearrangements to determine if this B-cell lymphoma-associated translocation also plays a role in the pathogenesis of HD.

bcl-2 gene

translocation


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

bipolar disorder

bipolar disorder


Input: Adiponectin, cytokines of interleukin-6 (IL-6) and necrosis factor-α (TNF-α) and toll-like receptor 4 (TLR4) expression level in adipose tissue were measured using real-time quantitative RT-PCR.

necrosis


Input: Lipoprotein (a): its role in childhood thromboembolism.

Lipoprotein (a

thromboembolism

Lipoprotein (a

thromboembolism


Input: The effect of alpha-melanocyte stimulating hormone (alpha-MSH) was investigated on gentamicin-induced acute renal injury in rats.

alpha-melanocyte stimulating hormone

acute renal injury

alpha-melanocyte stimulating hormone

acute renal injury


Input: Demographic and clinical characteristics of the cases (age at the study period, body weight, mean dose and plasma concentration of valproate acid (VPA)/clobazam (CLB) off and on STP, mean plasma concentration of norclobazam (N-CLB) off and on STP, degree of seizure reduction, and adverse effects of STP) were examined with each CYP2C19 polymorphism.

STP

seizure


Input: In human breast cancer tissues, the levels of p54 (nrb) and SREBP-1a proteins were positively correlated with each other.

breast cancer


Input: Mutations in COCH have been associated with autosomal dominant nonsyndromic hearing loss (DFNA9) and are frequently accompanied by vestibular hypofunction.

COCH

vestibular hypofunction


Input: It is becoming clear that mutations in the KVLQT1, human " ether-a-go-go " related gene, cardiac voltage-dependent sodium channel gene, minK and MiRP1 genes, respectively, are responsible for the LQT1, LQT2, LQT3, LQT5 and LQT6 variants of the Romano-Ward syndrome, characterized by autosomal dominant transmission and no deafness.

deafness


Input: BIRC3, a severe hypoxia-activated gene, was significantly increased in SS (8. 2, p & lt; 0. 004), when compared with the controls.

SS

SS


Input: The protein-energy malnutrition (PEM) that is characterized by hypoproteinemia, edema, and anemia has been reported in 5-13% of infants with cystic fibrosis (CF).

PEM

protein-energy malnutrition


Input: To define the relationship between the MAL gene and the metastatic process, we evaluated the expression status of the gene in matched primary and metastatic tumors of head and neck cancer by semiquantitative reverse transcription-polymerase chain reaction.

MAL

head and neck cancer

MAL

head and neck cancer


Input: Here we report a unique family carrying non-identical MECP2 mutations in exon 2 wherein the proband with classical RS was carrying a de-novo early truncating frameshift mutation while her asymptomatic mother was carrying a missense mutation, both predicted as pathogenic mutations.

asymptomatic


Input: By real-time-PCR, mRNA-expression levels of HMGB1 and RAGE were upregulated in muscle biopsies of patients with IBM and PM, but not in muscular dystrophy or non-myopathic controls.

muscular dystrophy


Input: Of the patients without apparent KIT mutations, none have apparent abnormalities of the gene encoding SLF itself (MGF), and genetic linkage analyses in two of these families are suggestive of linkage of the piebald phenotype to KIT.

MGF

abnormalities


Input: Regions spanning the G8 and G7 repeat sequences of BAX and AXIN2 were sequenced for mutations including expansion and deletion abnormalities.

BAX

abnormalities


Input: Mdm2, p53, p21 and pAKT protein pathways in benign neoplasms of the salivary gland.

benign neoplasms


Input: They indicate that ATF3 is an androgen regulated gene that is highly expressed in prostate tumors and stimulating cell proliferation.

prostate tumors

prostate tumors


Input: Serum marker of bone resorption, beta-C telopeptide was studied.

beta-C

bone resorption


Input: Quantitative protein expression profiling of 14-3-3 isoforms in human renal carcinoma shows 14-3-3 epsilon is involved in limitedly increasing renal cell proliferation.

14-3-3 epsilon

renal carcinoma


Input: Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.

lipoprotein lipase

lipoprotein lipase deficiency

lipoprotein lipase

lipoprotein lipase deficiency


Input: We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases.

NFIX

Malan syndrome

NFIX

Malan syndrome


Input: Here, we identified the 28S ribosomal DNA (RN28S1) gene as a novel fusion partner of the B-cell leukemia/lymphoma 11B gene (BCL11B), the immunoglobulin κ variable 3-20 gene (IGKV3-20) and the component of oligomeric Golgi complex 1 gene (COG1) in hematologic malignancies.

lymphoma


Input: We assessed the cross sectional association between APOE genotype and dementia status in a community based sample, the MRC Cognitive Function and Ageing Study (MRC CFAS).

MRC

dementia


Input: Moreover, a neutralizing antibody of IL-6, which was injected into areas surrounding the sciatic nerve on day 0, 3, and 6, significantly attenuated vincristine-induced mechanical allodynia from day 7 to day 28.

mechanical allodynia

mechanical allodynia


Input: To explore the feasibility of ex vivo lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II), we evaluated retrovirus-mediated gene transfer of the iduronate-2-sulfatase (IDS) coding sequence into peripheral blood lymphocytes from enzyme-deficient individuals (PBLMPS).

IDS

mild


Input: Among the 18 patients with MYC abnormality, four had simultaneous MYC translocations, but no BCL2 translocation was detected among patients with BCL2 abnormality.

translocation