Input: We present the case of a 51-year-old woman with a diagnosis of monophasic synovial sarcoma in which chromosome banding analysis did not reveal the presence of the typical t (X; 18) (p11. 2; q11. 2), but instead found monosomy of chromosomes X and 18 and a marker chromosome.

monophasic synovial sarcoma


Input: Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

carbohydrate sulfotransferase 3

humero-spinal dysostosis

carbohydrate sulfotransferase 3

humero-spinal dysostosis


Input: We investigated the relationship between a point mutation (D327N) in SHBG gene exon 8 that delays human SHBG half-life and a pentanucleotide repeat polymorphism [PNRP (TAAAA) (n)] in the SHBG gene 5' untranslated region that influences transcription in vitro, on the one hand, and SHBG levels on the other, in a population of 303 women referred for hirsutism.

SHBG

hirsutism


Input: The protein product of the proto-oncogene bcl-2, originally discovered by virtue of its chromosomal translocation in human follicular centre B cell lymphoma, is a physiological inhibitor of programmed cell death, apoptosis.

chromosomal translocation


Input: In conclusion, low-dose simvastatin therapy significantly improves survival and cardiac function and reduces both cardiac hypertrophy and pulmonary edema via an eNOS-dependent mechanism in a murine model of CHF.

eNOS

cardiac hypertrophy

eNOS

cardiac hypertrophy


Input: Relative numbers of DLX1-and SHOX2-positive neurons in patients with schizophrenia and bipolar disorder with history of psychosis compared with psychiatric and nonpsychiatric controls.

schizophrenia

schizophrenia


Input: HCMV suppressed expression of the focal-adhesion-associated proteins Hic-5, paxillin, and alpha-actinin.

adhesion


Input: Evaluation of p16 and Id1 status and endogenous reference genes in human chondrosarcoma by real-time PCR.

chondrosarcoma


Input: These data imply that endogenous CNTF plays a pivotal role for the structural maintenance of hippocampal functions and thus has an important impact on the modulation of affective behavior in rodent models of anxiety and depression.

CNTF

depression

CNTF

depression


Input: The present results suggest an absence of association between IL-6, TNF-A and LT-A polymorphisms and subject-based clinical behaviour of the gingiva in response to de novo plaque accumulation.

plaque


Input: Crosstalk between monocytes and renal mesangial cells via interaction of metalloproteinases and fractalkine in diabetic nephropathy.

fractalkine

diabetic nephropathy


Input: Expression and superoxide generation of the membrane components of NADPH oxidase, p22 (phox) and gp91 (phox), in the neointima were also suppressed by Ad-PEDF.

neointima


Input: Two Dutch kindreds with intrafamilial characteristics of both the Cockayne-Touraine type and Bart' s syndrome of autosomal dominant dystrophic epidermolysis bullosa have been studied.

Bart' s

dominant dystrophic epidermolysis bullosa


Input: In this study, high frequency of microsatellite instability was found in D3S966 which was 28. 6% of informative cases; this reveals the possibility of mutations of MMR genes in this region.

MMR

microsatellite instability


Input: The detection rate of the FISH split-signal was 84% (129/154 cases) for the translocation-associated soft tissue tumors, such as Ewing' s sarcoma/primitive neuroectodermal tumor, synovial sarcoma, alveolar rhabdomyosarcoma, myxoid liposarcoma, clear cell sarcoma and so forth.

FISH

clear cell sarcoma


Input: These findings collectively demonstrate that SETD2 mutations drive tumorigenesis by coordinated disruption of the epigenome and transcriptome, and they have important implications for future therapeutic strategies targeting chromatin regulator mutant tumors.

tumorigenesis


Input: Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

Posterior column ataxia with retinitis pigmentosa

Posterior column ataxia with retinitis pigmentosa


Input: Two NLRP3 SNPs (rs4612666 and rs10754558) were significantly associated with susceptibility to food-induced anaphylaxis (P =. 00086 and P =. 00068, respectively).

anaphylaxis

anaphylaxis


Input: The Balb/c strain exhibits a remarkable long lasting tolerance to alcohol injury for striatal and hippocampal cholinergic markers (choline acetyltransferase, high affinity choline uptake, muscarinic receptors affinity, acetyl cholinesterase), whereas C57Bl mice appear more sensitive to alcohol intoxication.

cholinesterase

alcohol intoxication

cholinesterase

alcohol intoxication


Input: This translocation fuses TEL and AML1, two genes previously cloned from translocation breakpoints in myeloid leukemias.

translocation


Input: New mitochondrial DNA mutations were discovered in the cytochrome c oxidase subunit III gene in 8 independent Leber hereditary optic neuropathy probands.

cytochrome c oxidase subunit III

Leber hereditary optic neuropathy

cytochrome c oxidase subunit III

Leber hereditary optic neuropathy


Input: These data suggest distinct roles of the GluN2A subunit as whole vs. its intracellular domain in modulating anxiety and depression-like symptoms and reveal differential molecular targets for the therapy of mood and anxiety disorders.

depression

depression


Input: After the in vitro functional screening using adenovirus transfections of 12 genes into rat cardiomyocytes, we generated gene-targeting mice of five candidate genes, namely, MYLK3, GPR37L1, GPR35, MMP23, and NBC1.

adenovirus


Input: The further study of the mechanism showed that PEDF inhibited hypoxia-induced increases in VEGF promoter activity, HIF-1 nuclear translocation and mitogen activated protein kinase phosphorylation.

VEGF

hypoxia


Input: Brain-derived neurotrophic factor (BDNF) has been described to modulate airway hyper-responsiveness and inflammation and was involved in late allergic reaction in asthma and higher levels of circulating BDNF were present in allergic asthmatics.

BDNF

allergic reaction


Input: The treatment of SCC cells with hypoxia increased the expression of PEDF as well as VEGF.

VEGF

hypoxia


Input: We document a case of an aggressive chronic B-cell leukemia whose cells had trisomy 12 and two unbalanced translocations involving 12p13, including a t (12; 22) (p13; q11) as shown by conventional cytogenetics and fluorescence in situ hybridization (FISH).

trisomy 12


Input: Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene.

EEC

EEC


Input: The field of movement disorders with neuronal antibodies keeps expanding with the discovery for example of antibodies against leucine rich glioma inactivated protein 1 (LGI1) and contactin associated protein 2 (Caspr2) in chorea, or antibodies targeting ARHGAP26-or Na/K ATPase alpha 3 subunit (ATP1A3) in cerebellar ataxia.

chorea


Input: Lack of alpha 1b-adrenergic receptor protects against epileptic seizures.

alpha 1b-adrenergic receptor

epileptic seizures

alpha 1b-adrenergic receptor

epileptic seizures


Input: The present study suggests that overexpression of semaphorin 5A may contribute to gastric carcinogenesis, which reveals a novel expression and function of semaphorin 5A outside the nervous system and adds more weight to our knowledge of semaphorin 5A.

semaphorin 5A

weight


Input: The Nramp1 alleles were not associated with increased risk for the development of cavities seen on chest radiographs, or with extrapulmonary tuberculosis.

cavities


Input: Immunoprecipitation of astrocytoma GWBs suggested that Dicer, hDcp, LSm4, XRN1, SYNCRIP, and FMRP form a multiprotein complex.

SYNCRIP

astrocytoma


Input: Here, we report two novel CASR mutations affecting the same amino acid (p. N802); one causes ADH and the other atypical FHH.

CASR

FHH

CASR

FHH


Input: Similarities between human ataxia fibroblasts and murine SCID cells: high sensitivity to gamma rays and high frequency of methotrexate-induced DHFR gene amplification, but normal radiosensitivity to densely ionizing alpha particles.

DHFR gene

ataxia


Input: The roles of cell surface attachment molecules and coagulation Factor X in adenovirus 5-mediated gene transfer in pancreatic cancer cells.

coagulation Factor X

adenovirus


Input: HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia.

bilateral microtia

bilateral microtia


Input: However, its expression was significantly lower in Dukes' D samples compared to earlier Dukes' stages suggesting that HIP was inversely correlated to metastasis.

HIP

metastasis


Input: To address this, we first resequenced the NKX3. 1 gene in 159 probands of hereditary prostate cancer families recruited at Johns Hopkins Hospital; each family has at least three first-degree relatives affected with prostate cancer.

NKX3. 1

hereditary prostate cancer


Input: A total of 250 individuals belonging to 19 different families, identified through established propositi were simultaneously screened for hereditary spherocytosis (SPH), using stringent criteria, and 27 well-known polymorphic genetic marker systems.

SPH

hereditary spherocytosis


Input: Furthermore, histopathological examination revealed that the retained cardiac function observed in CD34 (+) HSC-treated mice was associated with decreased ventricular fibrosis.

fibrosis


Input: PEDF proteins showed dose-dependent induced growth retardation and apoptotic cell death in nontransfected G361 cells, which were completely prevented by treatment with antibodies against the Fas ligand.

Fas ligand

growth retardation


Input: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability.

tyrosine aminotransferase

intellectual disability

tyrosine aminotransferase

intellectual disability


Input: Interestingly, a second group (22 of 57 cases; 39%) was identified that showed high expression of CSF1 RNA or CSF1 protein but did not have the translocation.

translocation


Input: The aims of the study were to investigate whether VGLUT3 is involved in visceral pain, and whether transient intestinal infection or acute cold restraint stress (ACRS) affects VGLUT3 expression levels in rats.

cold


Input: Cox' s proportional hazard analysis showed that the TT genotype is a significant risk factor for CVD (hazard ratio (HR) = 1. 82 (95% confidence interval (CI) 1. 14-2. 89); P = 0. 012) and stroke (HR = 1. 76 (95% CI: 1. 01-3. 07); P = 0. 048) incidences after adjustment for age, sex, hypertension, hyperlipidemia, diabetes, alcohol drinking and smoking at baseline.

Cox' s

hyperlipidemia


Input: SULF1 also promotes drug-induced apoptosis of cancer cells in vitro and inhibits tumorigenesis and angiogenesis in vivo.

tumorigenesis


Input: The primary results showed that FLG mutations were not associated with the risk of cervical cancer (6. 3% of cases and 7. 7% of controls were carriers; OR adjusted 0. 81, 95% CI 0. 57-1. 14; OR adjusted + weighted 0. 96, 95% CI 0. 58-1. 57).

FLG

cervical cancer


Input: Cathepsin K, a cysteine protease gene that is highly expressed in osteoclasts, localized to the pycnodysostosis region.

Cathepsin K

pycnodysostosis

Cathepsin K

pycnodysostosis


Input: We describe the case of a 49 year-old man with chronic myelomonocytic leukaemia and severe factor XI deficiency (< 1 u/dl), in whom the use of factor XI concentrate appeared to be associated with the development of venous thromboembolic disease.

factor XI

chronic myelomonocytic leukaemia


Input: This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells.

DLBCL

DLBCL


Input: The sequence and levels of expression of NAPlr were assayed for strains of GAS isolated from patients with APSGN, pharyngitis, scarlet fever or toxic shock-like syndrome.

GAS

toxic shock


Input: The data suggest that loss of all APC SAMP repeats is probably necessary for duodenal and gastric tumorigenesis in FAP, as it is in colonic tumors.

SAMP

tumorigenesis


Input: These findings suggest that FUS is the pathological protein in a significant subgroup of sporadic FTD and reinforce the concept that FTD and amyotrophic lateral sclerosis are closely related conditions.

FUS

sporadic


Input: Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12.

SEMD

multiple epiphyseal dysplasia


Input: We report here that brahma-related gene 1 (Brg1) and brahma (Brm), two catalytic components of the mammalian chromatin remodelling complex, were induced in cultured endothelial cells challenged with hypoxia in vitro as well as in pulmonary arteries in an animal model of HPH.

hypoxia


Input: Using HIF-1alpha knockout colon cancer cells, we show that the inhibition of the hypoxia-induced VEGF by 1, 25 (OH) (2) D (3) is mediated through a HIF-dependent pathway.

VEGF

hypoxia


Input: Nevertheless, the data of this study, gathered at the whole-organism level, further support a role for KLF11 in metabolic processes like insulin sensitivity, which regulation is critical in several forms of diabetes.

insulin sensitivity


Input: To further investigate whether multiple genetic changes are involved in the development of colorectal cancer, we performed an immunohistochemical analysis of p53 and ras p21 protein expression in 139 specimens of colorectal adenoma with varying degrees of dysplasia, 57 specimens of early cancer with an adenomatous component, and 12 specimens of superficial early cancer without any adenomatous component.

colorectal adenoma


Input: Epithelial to mesenchymal transition (EMT) is a cellular phenotype switching phenomenon which occurs during normal development and is proposed to promote tumour cell invasive capabilities during tumour progression.

EMT

tumour progression


Input: We tested for mutations in the keratin 8 and keratin 18 genes in purified genomic DNA isolated from 150 explanted livers and 89 peripheral-blood specimens from three groups of patients: 55 patients with cryptogenic liver disease; 98 patients with noncryptogenic liver disease, with causes that included alcohol use, autoimmunity, drug use, and viral infections; and 86 randomly selected inpatients and outpatients who provided blood to the hematology laboratory.

keratin 18

viral infections


Input: Recently, we found that glycolytic enzymes were abundant and some were increased in pseudopodia formed by U87 glioma (astrocytoma) cells.

glioma


Input: Pioglitazone reduced the total and striatal infarct size, neuronal degeneration in both parts of the ipsilateral SN, the loss of TH-IR neurones in the SNc and increased the number of PPARγ-positive TH-IR neurones.

PPARγ

infarct


Input: The dic (9; 20) (p11-13; q11) is a recurrent chromosomal abnormality in patients with acute lymphoblastic leukemia.

chromosomal abnormality


Input: Among the presbycusis group, these solely occurred within the GJB2 and SLC26A4 genes.

presbycusis


Input: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired beta-oxidation of very long chain fatty acids (VLCFAs) and reduced function of peroxisomal very long chain fatty acyl-CoA synthetase (VLCS) that leads to severe and progressive neurological disability.

VLCS

peroxisomal disorder


Input: Western blot analysis demonstrated that 86% (18 of 21) of primary brain tumors showed evidence of JNK activation but only 38% (8 of 21) showed evidence of ERK activation.

JNK

primary brain tumors


Input: G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher body weight, higher height velocity before treatment, but not after GH treatment.

LEPR

body weight


Input: We also compared levels of HtrA proteins in follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) and found that these types of carcinoma differed in the expression of HtrA3-S and HtrA1.

carcinoma


Input: A senescence gene likely maps within FRA6F, as suggested by detection of deletion and translocation breakpoints involving this fragile site in immortal human-mouse cell hybrids and in SV40-immortalized human fibroblasts containing a human chromosome 6 deleted at q21.

translocation


Input: Among the direct targets identified for Fra-1/c-Jun involved in proliferation, adhesion, and cell-cell contact, we found that AP-1 repressed the expression of E-cadherin by transcriptional upregulation of ZEB2 to stimulate cell invasion.

adhesion


Input: Transcription profile analysis of these tumors revealed induction of transcripts known to be associated with myxoid liposarcoma and novel candidate genes, including PDGFA, whose expression was confirmed in human tumor samples.

PDGFA

myxoid liposarcoma


Input: Here we describe two novel KIT mutations associated with human piebaldism.

KIT

piebaldism

KIT

piebaldism


Input: The switch to miglitol for 3 months did not affect hemoglobin A (₁c), fasting glucose, triglycerides, total cholesterol, or C-reactive protein levels, or adverse events other than hypoglycemia symptoms.

C-reactive protein

hypoglycemia


Input: The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.

manic

manic


Input: Immunohistochemical staining of RGC-32 and E-cadherin was performed on specimens from 42 patients with pancreatic cancer, 12 with chronic pancreatitis and 8 with normal pancreas.

E-cadherin

chronic pancreatitis


Input: These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect (s) of the nervous system.

TRK

nervous system


Input: Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase.

7-dehydrocholesterol reductase

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase

Smith-Lemli-Opitz syndrome


Input: The t (8; 21) chromosomal translocation that generates the fusion oncoprotein RUNX1-ETO predominates in leukemia patients of the French-American-British (FAB) class M2 subtype.

chromosomal translocation


Input: Activation of the Nrf2-ARE pathway in hepatocytes protects against steatosis in nutritionally induced non-alcoholic steatohepatitis in mice.

non-alcoholic steatohepatitis

non-alcoholic steatohepatitis


Input: The purpose of our study was to analyse cases of primary cutaneous B-cell lymphoma (PCBCL) for the presence of the t (14; 18) translocation and to correlate the results with Bcl-2 expression and histological subtype.

translocation


Input: According to the three methods, the GP2 line cells, representing a low-malignancy phenotype, had a higher uptake ability than the MB cells, possessing a phenotype of higher aggressiveness.

aggressiveness


Input: To better understand the role of this gene family we performed a mutational screening on two candidate genes, MYO1C and MYO1F, analyzing hundreds of patients, affected by bilateral sensorineural hearing loss and coming from different European countries.

bilateral sensorineural hearing loss

bilateral sensorineural hearing loss


Input: The high expression level of the IL-1 beta gene and the IFN-gamma gene inside granulomas may be specific to delayed-type hypersensitivity immune reactions.

IFN

granulomas


Input: Intrahepatic cholangiocarcinoma and combined hepatocellular cholangiocarcinoma show varying degrees of biliary epithelial differentiation, which can be defined as liver cancer displaying biliary phenotype (LCB).

LCB

cholangiocarcinoma


Input: Endometrial cancer cells showed decreased expression of SEMA3B, SEMA3F, and plexin A3 compared with their normal counterparts.

plexin A3

Endometrial cancer

plexin A3

Endometrial cancer


Input: Therefore, we studied the association between Group II mGluR genes (GRM2 and GRM3) and mood disorders and the efficacy of fluvoxamine treatment in Japanese MDD patients.

mood disorders

mood disorders


Input: To examine the relationship between EGFR and the invasive phenotype, we assessed integrin expression, adhesion, matrix metalloproteinase (MMP) activity, and migration in ovarian cancer cells in which EGFR expression was modified.

EGFR

adhesion


Input: Evidence supporting the presence of the DNAJB1-PRKACA chimeric transcript in 100% of the FL-HCCs examined (15/15) suggests that this genetic alteration contributes to tumor pathogenesis.

PRKACA

FL-HCC

PRKACA

FL-HCC


Input: Estrogen regulates DNA methyltransferase 3B expression in Ishikawa endometrial adenocarcinoma cells.

DNA methyltransferase 3B

endometrial adenocarcinoma


Input: Both MSC and ACEI could reduce infarction remodelling by altering collagen metabolism.

MSC

infarction


Input: Sixteen FTO tagSNPs screened here, including several associated with BMI in Europeans, were not associated with birth weight (BWT), early weight gain in 1-2 year olds, BMI in adults (> or = 18 y), or weight-for-height (WFH) z-score across all ages.

FTO

height


Input: Abnormalities of adenosine deaminase, a critical enzyme of the purine salvage pathway, have been reported in association with immune dysfunction, acute leukemia, and hereditary hemolytic anemia.

adenosine deaminase

acute leukemia


Input: In the present study, we aimed to evaluate the expression of CD11b and CD45 adhesion molecules in peripheral blood granulocytes, monocytes and lymphocytes from the patients with coronary artery ectasia as possible indicators of inflammation.

inflammation


Input: AIM: The present study was designed to investigate the expression of Polo-like kinase 1 (PLK1) and survivin in non-Hodgkinos lymphoma (NHL).

AIM

lymphoma


Input: This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.

spondyloepiphyseal dysplasia congenita

spondyloepiphyseal dysplasia congenita


Input: Treatment of B16 melanoma-bearing mice with CL1-R2 combined with cyclophosphamide chemotherapy caused regression of the tumor vasculature and normalization of the remaining vessels as shown by Doppler ultrasonography, intravital microscopy, and histology.

regression


Input: Less well studied is the role of the follicular lymphoma variant translocation 1 (FVT1) gene, which was identified through its involvement in an atypical follicular lymphoma translocation and which encodes an enzyme in the synthetic pathway of ceramide.

translocation


Input: A nonrandom telomeric association, tas (15; 16) (p13; p13), was observed in one carcinoma.

carcinoma


Input: MCP-1 and HIV viral load (VL) were measured in serially obtained samples of plasma and cerebrospinal fluid (CSF) in subjects either interrupting (TI) or starting (TS) antiretroviral therapy.

viral load


Input: Functional analysis shows that the mutant DNC protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes MCPHA.

DNC

MCPHA

DNC

MCPHA


Input: These data suggest that quercetin suppresses H1R gene expression by the suppression of PKCδ activation through the inhibition of its translocation to the Golgi.

translocation


Input: However, the expression and function of SP-B in the sinonasal cavities has not been elucidated.

SP-B

cavities


Input: Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region.

Usher syndrome type IIa

Usher syndrome type IIa


Input: Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

TUBB

Circumferential Skin Creases Kunze Type

TUBB

Circumferential Skin Creases Kunze Type


Input: We report here on the identification of a p53 germ line mutation at codon 133 (ATG----ACG) in nine members of an extended Li-Fraumeni syndrome family.

Li-Fraumeni syndrome

Li-Fraumeni syndrome


Input: These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility.

SLE

SLE


Input: These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene.

alpha-Gal A

Fabry disease

alpha-Gal A

Fabry disease


Input: Since HOXA10 and HOXA11 are known to be necessary for successful pregnancy, these findings suggest a molecular mechanism by which bleeding or inflammation may affect pregnancy outcome.

inflammation


Input: Based on our microarray data, RXR & #946;, like FABP7, is an adverse prognostic factor for breast cancer.

breast cancer

breast cancer


Input: Increased SP4 and SP1 transcription factor expression in the postmortem hippocampus of chronic schizophrenia.

SP1 transcription factor

chronic schizophrenia

SP1 transcription factor

chronic schizophrenia


Input: This study supports the hypothesis that resveratrol may be able to protect the retina against ischemia by downregulation of MMP-9 and iNOS, and upregulation of HO-1.

retina

retina


Input: In conclusion, results from 2 independent studies suggest that the ET1/C198 polymorphism is associated with blood pressure levels in overweight people.

blood pressure


Input: We describe a family with a novel, inherited AXIN2 mutation (c. 1989G > A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.

gastric polyps


Input: Analysis of a larger panel of tumors from patients receiving presurgical taxane-based treatment showed that DEFA and MAP2 expression as well as histologic features of inflammation were all statistically associated with response to therapy at the time of surgery.

inflammation


Input: A common polymorphism of the type 2 deiodinase gene (Thr92Ala DIO2) was found to be associated with insulin resistance in a mixed Caucasian population.

insulin resistance


Input: The present meta-analysis suggested a positive association between FTO gene polymorphism and overweight/obesity risk among children and adolescents.

FTO gene

overweight


Input: In response to the ensuing retinal ischemia, there was consistent preretinal neovascularization starting around P17, which persisted until P21, after which the new vessels regressed.

neovascularization


Input: The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13. 2-13. 3 by genetic linkage.

MLIV

MLIV


Input: Moreover, patients with HCC had lowest serum nidogen-2 levels compared with patients with benign liver diseases and normal volunteers.

HCC

liver diseases


Input: Furthermore, we and others have demonstrated that the growth of mouse RAS-induced sarcomas allografts in mice is almost completely suppressed by either FK228 or a combination of two complimentary Tyr-kinase inhibitors, PP1 and AG 879, all of which block the RAS-induced activation of PAK1.

sarcomas


Input: Glial fibrillary acid protein, carcinoembryonic antigen, CD24, and epithelial membrane antigen did not outperform other markers, and are less useful in the diagnosis of chordoma vs chondrosarcoma.

carcinoembryonic antigen

chondrosarcoma


Input: Eight candidate genes mapping to the breakpoint region--U2AF2, EPN1, NALP4, NALP11, NALP5, ZNF444, PTPRH, and KIAA1811--were screened for mutations in germ-line and polyp DNA from the case and from 15 PJS cases that did not harbor germ-line STK11 mutations.

polyp


Input: Prostasin is down-regulated during inflammation and in invasive cancers, and plays a role in regulation of inflammatory gene expression and invasion.

Prostasin

inflammation


Input: dic (4; 17) (p11; p11): a new recurrent chromosomal abnormality in chronic B-lymphoid disorders.

chromosomal abnormality


Input: These studies document the considerable variability in the Btk mutations causing XLA and they demonstrate an approach that will be useful for carrier detection as well as mutation identification.

Btk

XLA

Btk

XLA


Input: Inherited deletions of ZFPM2 were identified in 2 patients with isolated diaphragmatic defects and a large de novo 8q deletion overlapping the same gene was found in a patient with non-isolated CDH.

CDH

CDH


Input: EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients.

EGFR

smoking


Input: In vitro, hypoxia induces the expression of VEGF, Flt-1, and type I collagen in activated HSCs and that of VEGF in hepatocytes.

VEGF

hypoxia


Input: The aim of this study was to investigate whether dysfunction in the Nrg1 gene modulates the behavioural effects of Delta (9)-tetrahydrocannabinol (THC), the major psychotropic component of cannabis.

cannabis

cannabis


Input: Furthermore, immunofluorescence staining and cell fractionation showed that erlotinib treatment led to p27 (KIP1) translocation to the nucleus.

translocation


Input: A microRNA/TP53 feedback circuitry is associated with CLL pathogenesis and outcome.

CLL

CLL


Input: Here we identify recurrent somatic T372R mutations in YY1 by whole exome sequencing of 10 sporadic insulinomas.

sporadic


Input: In a subsequent study, with denser marker coverage in 40 multiplex BP pedigrees, we reported supporting evidence with a two-point lod score of 2. 76 at the D21S1260 locus, about 6 cM proximal to PFKL.

PFKL

BP

PFKL

BP


Input: Genetic variation in DRD2 is a modifier of the reward-motivated characteristics, smoking and obesity.

smoking


Input: In conclusion, gene-targeted mice lacking SGK1 showed blunted volume retention, yet were not protected against renal fibrosis during experimental nephrotic syndrome.

renal fibrosis


Input: In view of the appearance of mild withdrawal signs during this method of treatment, the observed increases in ACTH and cortisol levels probably reflect the inability of AES to suppress withdrawal symptoms induced by naloxone completely.

ACTH

withdrawal symptoms

ACTH

withdrawal symptoms


Input: Serological analysis of simultaneously drawn CSF and serum samples allows reliable diagnostics of HSE, but not until after 3-10 days following the onset of neurological symptoms.

HSE

neurological symptoms


Input: These results indicate that RORA has the potential to be under both negative and positive feedback regulation by male and female hormones, respectively, through one of its transcriptional targets, aromatase, and further suggest a mechanism for introducing sex bias in autism.

aromatase

autism

aromatase

autism


Input: In addition, LEPR gene also associated with relative weight; Arg109Arg homozygotes had higher relative weight and Ser343Ser (C/C) homozygotes had lower one.

LEPR gene

weight


Input: It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene.

prothrombin

thrombotic

prothrombin

thrombotic


Input: Our results suggest that inflammation leads to an increase in circulating transferrin receptor concentration that is independent of the degree of erythropoiesis, the hypoxic response and iron status.

transferrin receptor

inflammation

transferrin receptor

inflammation


Input: Extracellular matrix metalloproteinase inducer stimulates tumor angiogenesis by elevating vascular endothelial cell growth factor and matrix metalloproteinases.

endothelial cell growth factor

tumor angiogenesis


Input: The mechanism by which loss of C/EBPβ promoted the TGF-β response towards EMT, invasion and metastasis, was traced to a previously uncharacterized role of C/EBPβ as a transcriptional activator of genes encoding the epithelial junction proteins E-cadherin and coxsackie virus and adenovirus receptor.

TGF-β

coxsackie virus


Input: These data provide further evidence that modulators of the NPY Y2 receptor subtype are drug targets for the treatment of anxiety and mood disorders in human subjects.

NPY Y2 receptor

mood disorders

NPY Y2 receptor

mood disorders


Input: To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products.

endometrial carcinoma


Input: Down-regulation of BANCR inhibited gastric cancer cell growth and promoted cell apoptosis, and it also contributed to a significant decrease of NF-κB1 (P50/105) expression and 3' UTR of NF-κB1 activity.

BANCR

gastric cancer


Input: Associations between polymorphisms in 5-HT2C and 5-HT2A receptor coding genes, HTR2C and HTR2A, with antipsychotic-induced weight gain have been reported.

weight gain


Input: Site-specific androgen receptor serine phosphorylation linked to epidermal growth factor-dependent growth of castration-recurrent prostate cancer.

epidermal growth factor

recurrent prostate cancer


Input: The Therapeutic Potential of Blocking Galectin-3 Expression in Acute Myocardial Infarction and Mitigating Inflammation of Infarct Region: A Clinical Outcome-Based Translational Study.

Myocardial Infarction

Myocardial Infarction


Input: This study investigated whether there is a direct relationship between Ape1 and radioresistance in glioma cells, employing the human U87 and U251 cell lines.

glioma


Input: In the present report we describe a novel 456G > A heterozygous mutation of splicing of the last base of the 3'-acceptor splice site of exon 4 within the GH1 in a 4. 2-year old, extremely short (-5. 32 height sDs) girl with congenital IGHD.

height


Input: Sixty-nine patients with AD on tacrine with or without transaminitis were genotyped for 17 IL6 polymorphisms.

transaminitis


Input: Addition of functional AR in human HCC cells also resulted in the promotion of cell growth in the absence or presence of 5alpha-dihydrotestosterone.

AR

HCC

AR

HCC


Input: The gingival pathologic changes resemble " hamartoma "; the findings has implications for identification of the underlying genetic basis of HGF.

HGF

hamartoma


Input: The multiple roles for Sox2 in stem cell maintenance and tumorigenesis.

tumorigenesis


Input: IGH/BCL2 translocation was retained in the PBL, which also acquired c-myc gene rearrangement.

translocation


Input: Pentraxin family members, especially PTX3, may be used as promising biomarkers in the prognosis of pancreatic carcinoma patients.

pancreatic carcinoma


Input: During differentiation of macrophages, ADM is produced in response to pro-inflammatory stimuli and hypoxia.

ADM

hypoxia


Input: Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.

RET

Hirschsprung disease

RET

Hirschsprung disease


Input: With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.

progressive osseous heteroplasia

progressive osseous heteroplasia


Input: Our analysis in zebrafish and human macrophage models of mycobacterial infection reveals that the DNA damage-regulated autophagy modulator DRAM1 functions downstream of pathogen recognition by the Toll-like receptor (TLR)/interleukin-1 receptor (IL1R)-MYD88-NF-κB innate immune sensing pathway to activate selective autophagy.

NF-κB

mycobacterial infection


Input: We synthesized three Py-Im hairpin polyamides targeting the flanking sequences of hypoxia responsive element (HRE; a binding site of HIF) in the promoter region of the vascular endothelial growth factor (VEGF) gene.

VEGF

hypoxia


Input: VEGF is one the pro-inflammatory adipokines synthesized by the " adipose secretoma " of obese subjects as a response to hypoxic conditions; but the main function of VEGF is angiogenesis, being recognized as the most important factor increasing blood capillaries in the adipose tissue by stimulating endothelial cell growth.

VEGF

hypoxic


Input: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.])

MAD

malformations


Input: Here, we focus on the molecular interactions between these NOD proteins and other intracellular molecules to elucidate the mechanisms by which NOD1 and NOD2 contribute to the maintenance of mucosal homeostasis and the induction of mucosal inflammation.

mucosal inflammation


Input: We found that ROCK-1 (-/-) mice did not develop the fibrosis and cardiac dysfunction characteristic for I/RC: compared with wild-type, ROCK-1 (-/-) hearts showed markedly lower numbers of I/RC-induced alpha-smooth muscle actin + fibroblasts and CD34 +/CD45 + fibroblast precursors.

fibrosis


Input: A case control study of 125 GHD cases and 159 control subjects were characterized for bone age, body mass index (BMI), height, weight, leptin, IGF-1, GH and their genotype at the leptin promoter G-2548A, and LEPR variants, K109R and Q223R, at Chung Shan Medical University Hospital.

LEPR

weight


Input: Comparative genomic hybridization (CGH) and FISH analyses were performed in order to analyze possible chromosomal aberrations induced by c-MYC.

MYC

chromosomal aberrations


Input: Cultured cells of explants from 23 human gliomas (seven astrocytomas, eleven anaplastic astrocytomas, three ependymal tumors and two medulloblastomas) were studied to examine cell morphology and expression of glial fibrillary acidic protein (GFAP), vimentin, fibronectin, and N-myc oncoprotein.

GFAP

ependymal tumors


Input: Previous work suggested that expanded CD8 + T-cell clones in the synovial fluid (SF) of HLA-B27 + patients with reactive arthritis (ReA) preferentially use the T-cell receptor variable region (TCRBV) 1, similar CDR3 sequences, and joining region (BJ) 2S3.

reactive arthritis


Input: We conclude that IAPP-induced beta-cell apoptosis causes defects in insulin secretion and beta-cell mass that lead first to hepatic insulin resistance and IFG and then to extrahepatic insulin resistance, hyperglucagonemia, and diabetes.

IAPP

insulin resistance


Input: In this study the association between the variant GSTM1 0/0 genotype and thyroid carcinoma was investigated.

carcinoma


Input: We found that Drp1 binding to p53 induced mitochondria-related necrosis.

necrosis


Input: Furthermore, the mRNA expression levels of GLUT1, PGK1, and LDHA were increased in MDD patients in a depressive state compared to healthy control subjects.

LDHA

depressive state

LDHA

depressive state


Input: Using real-time quantitative reverse transcriptase-polymerase chain reaction ([q] RT-PCR), the authors examined 36 samples (30 melanomas, 4 benign nevi, and 2 reactive lymph nodes) for the expression of 20 melanoma-related genes that function in cell growth and differentiation (epidermal growth factor receptor [EGFR], WNT5A, BRAF, FOS, JUN, MATP, and TMP1), cell proliferation (KI-67, TOP2A, BUB1, BIRC5, and STK6), melanoma progression (CD63, MAGEA3, and GALGT), and melanin synthesis (TYR, MLANA, SILV, PAX3, and MITF).

TYR

nevi


Input: We evaluated the effects of metformin in the liver of PON1-deficient mice which, untreated, present a mild degree of liver steatosis.

liver steatosis

liver steatosis


Input: We interpret these observations to implicate a reduction in the influence of a ubiquitous gene repressor, repressor element-1 silencing transcription factor (REST) in psychosis; REST is involved in the age-related maturation of the NMDA receptor from GluN2B-to GluN2A-containing NMDA receptors through epigenetic remodeling.

REST

psychosis


Input: Targeted inactivation of Dlx5 and Dlx6 in mice results in multiple developmental defects in craniofacial and limb structures, suggesting that these genes are crucial for aspects of both neural crest and nonneural crest development.

crest


Input: X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms.

DCX gene

sporadic


Input: Reprimo, a gene involved in the p53-induced G2 cell cycle arrest, has been recently identified as a novel target for aberrant methylation in pancreatic and other cancers.

Reprimo

cancers


Input: Missense mutations of FGFR2 are found in endometrial uterine cancer and melanoma, and similar FGFR3 mutations in invasive bladder tumors, and FGFR4 mutations in rhabdomyosarcoma.

rhabdomyosarcoma


Input: Transglutaminase 2 inhibitor, KCC009, disrupts fibronectin assembly in the extracellular matrix and sensitizes orthotopic glioblastomas to chemotherapy.

Transglutaminase 2

glioblastomas

Transglutaminase 2

glioblastomas


Input: We therefore propose that the DBC1-SIRT1 interaction may serve as a new target for therapies aimed at nonalcoholic liver steatosis.

liver steatosis


Input: Western blotting analysis indicated that LDM-induced G1 and G2/M arrests in MCF-7 cells were associated with an increase of p53 and p21, and a decrease of phosphorylated retinoblastoma tumor suppressor protein, cyclin-dependent kinase (Cdk), Cdc2 and cyclin B1 protein levels.

LDM

retinoblastoma


Input: These data suggest that homeostatic interactions between MeCP2 and miR-212 in dorsal striatum may be important in regulating vulnerability to cocaine addiction.

cocaine addiction

cocaine addiction


Input: Detection of molecular alterations in LBC will open a new era for the detection in asymptomatic women of precursor lesions that could evolve into cancer and for endometrial cancer diagnosis and screening in selected high-risk women.

LBC

endometrial cancer


Input: Brahma-related gene 1 (Brg1) epigenetically regulates CAM activation during hypoxic pulmonary hypertension.

hypoxic


Input: Investigations revealed that treatment with the newly synthesized drug analogue SH-03 [{(7S, 7aR, 13aS)-9, 10-dimethoxy-3, 3-dimethyl-7, 7a, 13, 13atetrahydro-3H-chromeno [3, 4-b] pyrano [2, 3-h] chromen-7-ol}] could induce AGO2-mediated apoptosis in myeloid leukaemia cells via intrinsic apoptotic pathways independent of Dicer.

myeloid leukaemia

myeloid leukaemia


Input: Overexpression of IL-6 not only plays an important role in prostate cancer progression but also contributes to bicalutamide resistance.

prostate cancer

prostate cancer


Input: Four family members with the c. 253T > C p. Y85H mutation in the BEST1 gene and BVMD in different stages also exhibited anterior segment abnormalities such as shallow anterior chambers (two cases), and reduced axial lengths in all cases.

BEST1 gene

abnormalities


Input: As expected, hypoxia (1% pO2) further induced HIF-1α protein levels along with its target genes VEGF and LOX.

VEGF

hypoxia


Input: The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population.

sporadic


Input: Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo.

factor VIII

dissociation


Input: Thirty patients, including 26 patients (two families of five and two, 19 sporadic cases) with RCS, and 4 optic nerve coloboma only control cases were evaluated in the present study.

RCS

optic nerve coloboma


Input: To clarify the participation of structural abnormalities of E-cadherin in cancer invasion in vivo, sequence abnormalities were examined in the cadherin domain (exons 5, 6, 7 and 8) including the region essential for E-cadherin specific binding, using the polymerase chain reaction-single-strand conformation polymorphism method and direct sequencing in invasive lobular carcinoma of the breast, in which cancer cells become detached from each other and invade the stroma in a particularly scattered pattern.

E-cadherin

abnormalities


Input: In this study, we investigated the effects of PAK5 on proliferation, migration, invasion, and apoptosis in human U87 and U251 glioma cells and examined the underlying molecular mechanism.

glioma


Input: We tested our hypothesis that lipid droplet (LD) protein perilipin 5 (PLIN5) in β-cells aids PP insulin secretion by regulating intracellular lipid metabolism.

aids


Input: The anti-Müllerian hormone (AMH) level acts as a useful marker of ovarian follicle reserve and, thus, may serve to predict when this ovarian reserve becomes too low to sustain ovarian function.

AMH

ovarian reserve


Input: There is now emerging evidence that OPG participates in the pathogenesis of atherosclerosis and cardiovascular diseases by amplifying the adverse effects of inflammation and several traditional risk factors such as hyperlipidemia, endothelial dysfunction, diabetes mellitus, and hypertension.

OPG

hyperlipidemia


Input: Additionally, overexpression of AEG-1 protects primary and transformed human and rat cells from serum starvation-induced apoptosis through activation of PI3K/Akt signaling.

starvation


Input: Recently, it has been shown that an allele in the adiponutrin (PNPLA3) gene was strongly associated with increased liver fat content (LFC) and liver fibrosis independent of visceral adiposity and insulin resistance.

insulin resistance


Input: We found a high incidence of B19 infection among patients diagnosed with different types of haematological malignancies.

malignancies


Input: In most of these tumors, the t (2; 5) (p23; q35) translocation causes fusion of the ALK gene to the 5' region of the nucleophosmin (NPM) gene, but other different ALK partners have been identified, including nonmuscle tropomyosin (TPM3), TRK-fused gene (TFG), 5' aminoimidazole-4-carboxamide ribonucleotide formyltranferase/IMP cyclohydrolase (ATIC), clathrin heavy chain gene (CLTC), and moesin (MSN).

TFG

translocation


Input: However, in addition to the 12 patients, three DDS patients were also analysed using SSCP, and in all three cases heterozygous WT1 mutations were found which would be predicted to disrupt the DNA binding activity of WT1 protein.

DDS

DDS


Input: No colorectal tumor was found to carry two CDC4 mutations predicted to abolish protein function; partial loss of CDC4 function may therefore cause tumorigenesis.

tumorigenesis


Input: In the present study, the functional role of XRCC5 in AD was further validated in animals and humans.

AD

AD


Input: One SCC had a missense mutation at codon 285 (GAG > AAG, Glu > Lys) and the other a nonsense mutation at codon 336, and the leukoplakia had a missense mutation at codon 273 (CGT > CAT, Arg > His).

AAG

leukoplakia


Input: In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy).

renal disorder

renal disorder


Input: Since the risk of both hypertension and stroke also appears to be inversely correlated with adult height, we have instigated an exploratory study to assess whether inter-individual variation in the genes encoding human growth hormone (GH1) and the GH receptor (GHR) might be associated with an increased risk of hypertension and stroke.

height


Input: Hepatocerebral MDS, caused by mutations in DGUOK, MPV17, POLG, or C10orf2, commonly have an early-onset liver dysfunction and neurological involvement.

liver dysfunction


Input: Serum stimulation of the cells resulted in dissociation of MYPT1 from myosin and PP1C in parallel with an increase in the level of Thr853 phosphorylation.

dissociation


Input: Insulin suppresses PDK4 expression in part through the dissociation of FoxO1 and PGC-1alpha from the PDK4 promoter.

dissociation


Input: Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR.

RELN

subcortical band heterotopia


Input: In an inducible epidermal RAS transgenic model, treatment with SB enhanced proliferation and cutaneous inflammation in skin but decreased expression of keratin 1 and increased expression of simple epithelial keratin 18, markers of premalignant progression.

keratin 18

premalignant


Input: Mutations in EIF2AK4 are likely to cause autosomal-recessive PCH in familial and some nonfamilial cases.

PCH

PCH


Input: (1) The results determined by dry-weight method indicated that water content of rats brain increased markedly after rats were exposed to a simulated altitude at 6 000 m, 8 000 m. (2) The results determined by microscopy indicated that during the rats exposed to hypoxia, nerve cells, vascular endothelial cells and astrocyte foot processes swelled lightly, transudate occurred in tissues at 4 000 m. The swelling of vascular endothelial cell (VEC) and astrocyte foot processes aggravated, interspace between vessels and tissues enlarged, and transudate in tissue increased at 6 000 m. The swelling of VEC and astrocyte foot processes went from bad to worse, interspace between vessels and tissues enlarged further, and transudate in tissue increased evidently at 8 000 m. (3) During hypoxic encephaledema, the expression of VEGF, AQP1 and AQP4 mRNA increased, AQP1 was abnormally expressed on the surface of VEC, and the expressive level of VEGF and AQP1 on VEC and AQP4 on astrocyte foot processes increased.

VEGF

hypoxic


Input: Pituitary tumorigenesis involves remodeling of the extracellular matrix (ECM).

ECM

tumorigenesis


Input: Pretreatment with lithium markedly suppressed the clinical symptoms of EAE induced in mice by myelin oligodendrocyte glycoprotein peptide (MOG35-55) immunization and greatly reduced demyelination, microglia activation, and leukocyte infiltration in the spinal cord.

myelin oligodendrocyte glycoprotein

EAE

myelin oligodendrocyte glycoprotein

EAE


Input: Protective effect of quercetin on acute lung injury in rats with sepsis and its influence on ICAM-1 and MIP-2 expression.

acute lung injury

acute lung injury


Input: Stable expression of the pS2 cDNA promotes constitutive invasiveness in MDCKts. src-pS2 cells and human colonic HCT8/S11-pS2 cells established from a sporadic tumor.

sporadic


Input: Although no discrepancy was found in the number of NMS between sPD patients with and without LRRK2 variants, nocturia was less common in LRRK2 variants carriers than in non-carriers (P = 0. 045).

nocturia


Input: Both proteins are concentrated in the vicinity of tumor blood vessels, with NPTXR also present on neuroblastic tumor cells.

NPTXR

tumor


Input: Secondary outcomes were acute asthma severity score, asthma diary, and cough diary scores on days 5, 7, 10, and 14.: On multivariate regression, presence of ARI was statistically but not clinically significantly associated with QOL score on presentation (B =-0. 36, P = 0. 025).

ARI

regression


Input: CPN activities were 37. 5 (28. 5-41. 3) nmol/ml/min and 38. 5 (32. 8-45. 6) for FXII-HAE asymptomatic and symptomatic carriers, respectively, and 37. 9 (30. 5-43. 7) nmol/ml/min for noncarriers.

CPN

asymptomatic


Input: Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

EVEN-PLUS syndrome

EVEN-PLUS syndrome


Input: Since astrocytomas are the most frequently occurring glioma, we have shown here that U87 cells-a well-established, human astrocytoma cell line-express both HGF and c-Met, thereby providing a suitable astrocytic tumor model for studying the potential role of HGF, functioning in an autocrine mode, in astrocytic tumorigenesis.

glioma


Input: One unusual clinical variant is epidermolysis bullosa pruriginosa (EBP), in which the combination of pruritus and skin fragility can lead to hypertrophic, lichenified nodules and plaques.

EBP

pruritus


Input: Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis.

follicular keratosis


Input: We propose that loss of AP-2 results in increased expression of the thrombin receptor, which subsequently contributes to the metastatic phenotype of melanoma by upregulating the expression of adhesion molecules, proteases, and angiogenic molecules.

thrombin receptor

adhesion


Input: Both null and missense mutations impaired the interaction of TCF4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct; therefore, hyperventilation and Hirschsprung disease in patients with Pitt-Hopkins syndrome might be explained by altered development of noradrenergic derivatives.

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome


Input: Our finding supports a role of SGTA in NHL cell proliferation, adhesion and drug resistance, and it may pave the way for a novel therapeutic approach for CAM-DR in NHL.

SGTA

adhesion


Input: This study strengthens the evidence for association between rare variants within RTN4R and SCZ, and may shed light on the molecular mechanisms underlying the neurodevelopmental disorder.

SCZ

SCZ


Input: Despite tenfold elevated fasting insulin and marked insulin resistance in Arg1174Gln carriers, the levels of total adiponectin, leptin, IGFBP1 and IGFBP2 were similar to those observed in controls, while total IGF1, IGF2 and free IGF1 levels were increased.

insulin resistance


Input: CEES induced ceramide accumulation may thus play an important role in the development of ARDS by modulating CPT enzyme.

CPT

ARDS

CPT

ARDS


Input: We report (a) previously unknown high-frequency copy-neutral LOH (uniparental disomy) in FL on chromosomes 1p (approximately 50%) and 6p (approximately 30%); (b) that del6q is complex, as reported, with at least two regions of minimal common loss at 6q13-15 and 6q23-24, and that in addition, approximately 8% of FL specimens contain a homozygous deletion at 6q23. 3-24. 1 that spans the negative NFkappaB regulator A20 and the p53 apoptosis effector PERP; (c) that combined analysis of chromosome 17p for LOH, copy number, and p53 mutations shows that most p53 mutations in FL do not involve del17p.

uniparental disomy


Input: Comparative genomic hybridization (CGH) was used in parallel with fluorescence in-situ hybridization (FISH) and conventional karyotyping to perform a genome-wide survey of DNA gains and losses in the endometriosis-derived permanent cell line, FbEM-1.

FISH

endometriosis


Input: Dipeptidyl peptidase-4 (DPP-4 or CD26) inhibitors, a new class of antidiabetic compounds, are effective in the treatment of hyperglycemia.

DPP

hyperglycemia


Input: We aimed to study whether variations in vasoregulatory endothelial nitric oxide synthase (eNOS 4a/b) and tissue-injury-associated inducible nitric oxide synthase (iNOS R5/4) genes and smoking might explain gender differences in long-term survival after stroke.

endothelial nitric oxide synthase

smoking


Input: We performed routine karyotyping, IGF2 gene sequencing and investigated DNA methylation of the IGF2 differentially methylated region (DMR) 0 and H19 DMR using pyrosequencing, in four women selected for very low birth weight (<-3 SDS for gestational age), precocious pubarche, short adult stature (<-2 SDS), and insulin resistance (defined as HOMA-IS < 80%); and compared their methylation results to those of 95 control subjects.

insulin resistance


Input: Activation of the RET proto-oncogene, located on the long arms of chromosome 10, contributes to the development of thyroid cancers in two different ways.

RET proto-oncogene

arms


Input: To our knowledge, this is the first case showing that somatic mutation of NLRC4 causes autoinflammatory symptoms compatible with NOMID.

NOMID

NOMID


Input: The multivariable logistic regression analysis revealed that ALDH2 * 2 genotype and smoking were significantly associated with CSA (P < 0. 001 and P = 0. 024, respectively).

smoking


Input: Keratinocytes of mice at higher risk for DILI exhibited an increased IL-1 & #946; basal expression.

DILI

DILI


Input: Extra-neurological features such as telangiectasia, raised alpha-fetoprotein and reduced immunoglobulin levels were absent.

alpha-fetoprotein

telangiectasia


Input: A young woman with normal gonadal development and mild mental retardation was found to have a small de novo interstitial deletion of most of band Xp21, karyotype designation 46, X, del (X) (pter----p21. 3:: p21. 1----qter).

mild mental retardation


Input: Histone Deacetylase 5 Is Overexpressed in Scleroderma Endothelial Cells and Impairs Angiogenesis via Repression of Proangiogenic Factors.

Histone Deacetylase 5

Scleroderma

Histone Deacetylase 5

Scleroderma


Input: The induction of YAP by hypoxia was not mediated by HIF-1α because manipulating the abundance of HIF-1α with CoCl2, exogenous expression, and RNA interference had no effect on the phosphorylation or total levels of YAP.

YAP

hypoxia


Input: The inhibitory effect of dexamethasone on VEGF gene expression by tumour cells was markedly reduced by hypoxia which suggests that the upregulation of VEGF driven by hypoxia overcomes the effect of the dexamethasone.

VEGF

hypoxia


Input: In vivo preclinical low-field MRI monitoring of tumor growth following a suicide-gene therapy in an orthotopic mice model of human glioblastoma.

MRI

glioblastoma


Input: Patients (n = 38) with ABCA4-associated retinal degeneration (RD) or with retinitis pigmentosa (RP) were studied with retina-tracking microperimetry along the foveo-papillary profile between the fovea and the optic nerve head, and point-by-point test-retest repeatability was estimated.

retinal degeneration


Input: P63 expression in papillary and anaplastic carcinomas of the thyroid gland: lack of an oncogenetic role in tumorigenesis and progression.

tumorigenesis


Input: These results support a role for catalase SNP in the efficiency of renutrition in malnourished elderly patients via the modulation of glucagon secretion, probably involving PAX6.

malnourished


Input: The production of VEGF is regulated by hypoxia inducible factor-1alpha (HIF-1alpha), especially under conditions of hypoxia.

VEGF

hypoxia


Input: The role of genetic markers--NAP1L1, MAGE-D2, and MTA1--in defining small-intestinal carcinoid neoplasia.

intestinal carcinoid


Input: We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.

IQCK

dementia

IQCK

dementia


Input: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: This study aimed to investigate the role of spinal CRTC1 in the maintenance of bone cancer pain using an RNA interference method.

cancer pain


Input: The antiproliferative and cytotoxic effect of nutlin-3, a small-molecule MDM2 antagonist, was examined in chemosensitive (UKF-NB-3) and matched chemoresistant neuroblastoma cells with wild-type p53 (UKF-NB-3 (r) DOX20) or with mutant p53 (UKF-NB-3 (r) VCR10).

neuroblastoma


Input: PTH-induced translocation of PKC-betaI,-delta, and-zeta to the cell membrane and PKC-zeta to the nucleus was also increased.

PKC-zeta

translocation


Input: In MDS patients, the incidence of Bcl2 expression was high while in aplastic anemia patients, incidence of Bcl2 expression was low. Patients with Bcl2 and FLT3 protein positivity showed significantly reduced DFS suggesting parallel role of these proteins in imparting chemoresistance to the leukemic cells.

aplastic anemia


Input: Multivariate analyses were done to identify associations between IKZF1 deletion and other variables on non-relapse mortality (NRM), cumulative incidence of relapse (CIR), leukemia-free survival (LFS) and survival.]

NRM

leukemia


Input: BACKGROUND: Graves' orbitopathy (GO) as well as Graves' disease (GD) hyperthyroidism originate from an autoimmune reaction against the common auto-antigen, thyroid-stimulating hormone receptor (TSHR).

hormone receptor

hyperthyroidism


Input: Although infusions of recombinant GBA ameliorate the systemic effects of GD, this therapy has no effect on the neurological manifestations.

GBA

neurological manifestations


Input: In a Cox regression model, the adjusted hazard ratio for the risk of disease progression after treatment with EGFR TKIs was 0. 59 (95% confidence interval [CI], 0. 40-0. 87; P =. 008) for patients with EGFR mutations, 4. 58 (95% CI, 2. 07-10. 15; P <. 001) for patients with ALK rearrangements, and 4. 23 (95% CI, 1. 65-10. 8; P =. 003) for patients with KRAS mutations.

EGFR

regression


Input: We previously established a highly metastatic subline, LNM35, from the NCI-H460 lung cancer cell line, and demonstrated upregulation of a novel gene, CLCP1 (CUB, LCCL-homology, coagulation factor V/VIII homology domains protein), in LNM35 and lung cancer specimens.

coagulation factor V

lung cancer


Input: We aim to clarify the role of two main LMW-PTP isoforms in breast cancer tumorigenesis.

LMW-PTP

tumorigenesis


Input: In reviewing the epidemiology of recurrent abortion (RAB), we believe it is necessary to consider the epidemiology of spontaneous abortion (SAB) as well, since it is clear that even a single pregnancy loss increases the risk for a subsequent abortion.

RAB

recurrent abortion


Input: ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.

spondylitis


Input: We report here the identification of 14 genes that are rapidly induced by atRA (retinoic acid induced in neuroblastoma or RAINB), eight of which were previously not known to be atRA responsive (BTBD11, calmin, cyclin M2, ephrin B2, HOXD10, NEDD9, RAINB6 and tenascin R).

neuroblastoma


Input: Overexpression of FGF receptor 3 (FGFR3) is implicated in the development of t (4; 14)-positive multiple myeloma.

FGF receptor

multiple myeloma


Input: Pranlukast, tacrolimus and dexamethasone significantly inhibited production of TNF-alpha and nuclear-translocation of NF-kappa B in PBM of atopic asthmatics (P < 0. 01).

TNF-alpha

atopic


Input: Among several candidates with statistically significant deregulation BCL2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3) and protein kinase C beta1 were shown to be the most aberrantly expressed genes.

adenovirus


Input: Augmented EGFR signaling contributes to abnormalities of vascular tone and renal sodium handling as well as vascular remodeling and myocardial hypertrophy through various intracellular mechanisms, in particular extracellular signal-regulated kinases (ERK) and phosphoinositide 3-kinase (PI3K).

ERK

hypertrophy


Input: Bay-117082 abolished hypoxia-stimulated IL-8 and VEGF synthesis, whereas Cyr61 restored the stimulative effect of hypoxia readily.

VEGF

hypoxia


Input: HIV positive sepsis patients in both ICU cohorts showed overexpression of genes involved in granzyme signaling (GZMA, GZMB), cytotoxic T-cell signaling (CD8A, CD8B) and T-cell inhibitory signaling (LAG3), compared to HIV negative patients.

GZMA

sepsis


Input: The results showed that TFPI-2 is silenced in human malignant melanomas by methylation of its promoter CGI and suggested that its silencing is involved in melanoma metastasis.

metastasis

metastasis


Input: In summary, resveratrol can inhibit sFlt-1 release and up-regulate heme oxygenase-1; thus, may offer therapeutic potential in preeclampsia.

heme oxygenase-1

preeclampsia

heme oxygenase-1

preeclampsia


Input: In OVCA 433 and HEY ovarian carcinoma cell lines, ET-1 treatment increases VEGF mRNA expression and induces VEGF protein levels in a time-and dose-dependent fashion, and do so to a greater extent under hypoxic conditions.

VEGF

hypoxic


Input: Overexpression of the HGF gene resulted in a significant decrease in the infarcted brain area as assessed by triphenyltetrazolium chloride staining, whereas rats transfected with control vector exhibited a wide area of brain death after 24 hours of ischemia.

HGF gene

ischemia


Input: Central pulverulent cataract in this consanguineous population does not significantly impact visual acuity during early childhood, can be associated with significant ametropias (with amblyopia and/or strabismus) and is specific for a homozygous CRYBB1 founder mutation.

Central pulverulent cataract

Central pulverulent cataract


Input: Here, we investigate a novel role of NLK and metformin in human non-small cell lung cancer (NSCLC).

NLK

non-small cell lung cancer


Input: Transfection of HIF-2 siRNA also downregulated tumoral expression of HIF-2α, VEGF, TGF-α, and cyclin D1 in vivo, and acted synergistically with doxorubicin to suppress the growth of HepG2 tumors established in immunodeficient mice by inhibiting cell proliferation, tumor angiogenesis and microvessel perfusion.

cyclin D1

tumor angiogenesis


Input: Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

tau

frontotemporal dementia

tau

frontotemporal dementia


Input: Patients were stratified by body mass index (BMI) and correlated with a history of previous malignancy and defects in MMR.

MMR

body mass index


Input: To determine whether 11q23/MLL rearrangements were present in the leukemia cells of patients with a normal karyotype, we performed FISH and molecular studies of eight of these patients who had adequate material.

FISH

leukemia


Input: Individuals with localized pulmonary MAC infections showed increased activation of monocytes and enhanced monocyte and T-cell tumor necrosis factor alpha (TNF-alpha) production in response to lipopolysaccharide and MAC antigens but defects in T-cell IFN-gamma secretion.

MAC

infections


Input: MAP/microtubule affinity-regulating kinase 4 (MARK4) is a serine-threonine kinase expressed in two spliced isoforms, MARK4L and MARK4S, of which MARK4L is a candidate for a role in neoplastic transformation.

neoplastic transformation


Input: Immunoreactivity with antibodies against DYRK1A not only in NFTs but also in granules in granulovacuolar degeneration and in corpora amylacea suggests that DYRK1A is involved in all three forms of degeneration and that overexpression of this kinase may contribute to the early onset of these pathologies in DS.

granulovacuolar degeneration


Input: While frequent occurrence of thyroid-stimulating hormone receptor gene mutations in toxic multinodular goiters has been reported in areas such as part of Europe with a relatively high prevalence of iodine deficiency, toxic multinodular goiters in areas with an abundance of dietary iodine such as Japan seem unlikely to involve mutations of this gene.

hormone receptor

goiters


Input: The PI3-kinase pathway regulated both the normoxic expression and hypoxic induction of VEGF in 2 cell lines, whereas MEK1/2 regulated only the normoxic expression in the same 2 lines.

VEGF

hypoxic


Input: Study aims were: evaluation of (1) timing of MRI after intravenous injection of cannabinoid-2 receptor (CB2-R) (expressed by human and mouse plaque macrophages) targeted micelles; (2) inter-scan variability of inversion-recovery fast spin echo and fast spin echo; (3) relation between NER (plaque) and gadolinium content for inversion-recovery fast spin echo and fast spin echo.

NER

plaque


Input: Therefore, we suggest that PXN expression may be useful in predicting primary TKI resistance, and combining TKI with ERK inhibitors may clinically benefit EGFR-mutant non-small cell lung cancer patients whose tumors exhibit high PXN expression.

PXN

non-small cell lung cancer


Input: Immunohistochemical and immunofluorescent study demonstrated that VEGF is mainly expressed in motor neurons before and after hypoxia.

VEGF

hypoxia


Input: Nineteen patients with giant cell tumors were examined with PET and 18F-FDG, and tracer kinetics were assessed quantitatively.

FDG

giant cell tumors


Input: DP polymorphism in HLA-A1,-B8,-DR3 extended haplotypes associated with membranoproliferative glomerulonephritis and systemic lupus erythematosus.

membranoproliferative glomerulonephritis


Input: The data on PGRP-SA with respect to the response to Gram-positive infections, together with the present report, indicate that the PGRP family has a principal role in sensing microbial infections in Drosophila.

PGRP

infections


Input: To describe the prevalence of transfusion-transmitted virus (TTV) infection in association with hepatitis A-E viral infections in different forms of liver diseases in North India.

TTV

viral infections


Input: When our biomarker data were assessed by Cox regression, furthermore, the dominant effects of p53 and PARP1 expression were highlighted.

regression


Input: Comparative diagnosis of malaria infections by microscopy, nested PCR, and LAMP in northern Thailand.

LAMP

infections


Input: These findings suggest a novel regulatory mechanism for CD274 overexpression in gastric cancer mediated by miR-570 and a somatic mutation in CD274 3'-UTR, and provide a new insight to gastric carcinogenesis.

UTR

carcinogenesis


Input: In this study, we found that PAK5-mediated E47 phosphorylation promoted EMT in advanced colon cancer.

colon cancer


Input: In cerebrovascular diseases, heart diseases and acute digestive diseases, significant differences of EC-SOD were not observed.

EC-SOD

cerebrovascular diseases


Input: Failure to respond in patients with very high CD8 levels, despite PA-APA fall indicates a role for T cell-mediated platelet/megakaryocyte destruction.

fall


Input: A synergistic effect of angiotensin I-converting enzyme gene DD genotype and angiotensinogen gene TT genotype on left ventricular mass in endurance athletes appears to occur.

angiotensin I-converting enzyme

left ventricular mass


Input: RANBP2 and CLTC are involved in ALK rearrangements in inflammatory myofibroblastic tumors.

CLTC

myofibroblastic tumors

CLTC

myofibroblastic tumors


Input: An increase in symptoms of depressed mood and a fall in heart rate occurred only in those who displayed increased CRP with nicotine abstinence (p < 0. 05), while systolic blood pressure fell only in those whose CRP levels decreased with abstinence (p < 0. 05).

CRP

heart rate


Input: A carvedilol-responsive microRNA, miR-125b-5p protects the heart from acute myocardial infarction by repressing pro-apoptotic bak1 and klf13 in cardiomyocytes.

myocardial infarction

myocardial infarction


Input: These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.

SFT

SFT


Input: Central venous blood of patients with HCC (n = 24) and patients with benign liver diseases (n = 13) equally demonstrated AFP-expressing cells.

HCC

liver diseases


Input: PCa cell line models were used to investigate the role of LMWPTP in cell proliferation, migration, adhesion, and anoikis resistance.

LMWPTP

adhesion


Input: The presence of two polymorphisms thought to decrease circulating TNF-alpha was associated with higher mean Z-scores for height and a trend toward less growth retardation.

TNF-alpha

height


Input: Bladder cancer cell lines were exposed to normoxic or hypoxic conditions and examined for the expression of FGFR3 by quantitative PCR (qPCR) and western blotting, and miR-100 by qPCR.

hypoxic


Input: COX-2 and SCD, markers of inflammation and adipogenesis, are related to disease activity in Graves' ophthalmopathy.

SCD

Graves' ophthalmopathy

SCD

Graves' ophthalmopathy


Input: Remarkably, the TAM-induced increase in the proliferation of the ER + ZR-75-1 and BT474 cells parallels a sustained upregulation of GLI1 expression and its translocation to the nucleus.

translocation


Input: Bcl-2 overexpression enhanced the synthesis of the hypoxia-stimulated VEGF protein and mRNA.

VEGF

hypoxia


Input: Additionally, loss of MMR function has been demonstrated to lead to the phenomenon of microsatellite instability (MIN) in tumors from these patients.

MMR

microsatellite instability


Input: These data, together with a characteristic gene expression profile, suggest that inactivation of TRIM28 provides the molecular basis for defining a previously described subtype of Wilms tumour, that has early age of onset and excellent prognosis.

Wilms tumour

Wilms tumour


Input: In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).

MEFV

FMF

MEFV

FMF


Input: The granulomatous lesion around the parasite eggs in the liver was less in the wild-type than in the CETP-transgenic mice.

CETP

granulomatous lesion


Input: When stratified by ALDH2 Ex1 + 82A > G polymorphism, alcohol-related increases in stomach cancer risk were restricted to individuals with the AG/GG genotypes, with a more than 2-fold risk among daily drinkers (OR = 2. 63, 95% CI = 1. 00-6. 88) and 3-fold risk (OR = 3. 66, 95% CI = 1. 19-11. 24) among those with 40 or more drink-years.

stomach cancer


Input: Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.

PIGM

glycosylphosphatidylinositol deficiency

PIGM

glycosylphosphatidylinositol deficiency


Input: A high transcription level was also found in grade IV prostatic adenocarcinoma PC3.

prostatic adenocarcinoma


Input: These results suggest a possible linkage between abnormal plasma chemistries, especially those related to the pro-opiomelanocortin system, and autistic symptoms.

pro-opiomelanocortin

autistic

pro-opiomelanocortin

autistic


Input: The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.

inhalation


Input: The serum IL6 {median (IQRs), 9. 42 (10. 92) vs. 5. 2 (5. 34) pg/ml; P = 0. 001}, IL8 {12. 37 (10. 92) vs. 5. 63 (5. 52) pg/ml; P & lt; 0. 001}, IL10 {8. 33 (8. 3) vs. 2. 05 (1. 37) pg/ml; P = 0. 001} and TNF & #945; {6. 14 (8. 95) vs. 3. 61 (3. 58) pg/ml; P & lt; 0. 001} were also increased in WD patients compared to controls.

WD

WD


Input: These findings support the hypothesis that the Q223R polymorphism (but not the K109R or K656N polymorphism) of the leptin receptor gene is associated with obesity and predicts a small percentage of body weight and body composition variability in a genetically homogeneous population.

leptin receptor gene

body weight


Input: WBCT decreased and PAI activity increased rapidly after hemorrhagic shock in the control group.

PAI

hemorrhagic shock


Input: Proteins with increased levels include manganese-containing superoxide dismutase and hemoglobin subunit and proteins with decreased expression include sorbitol dehydrogenase, mitochondrial aldehyde dehydrogenase 2, glucose-regulated protein 75, CRY protein, snail homolog 3, thyroid hormone-binding protein precursor, and DJ1 (Parkinson' s disease 7) etc.

sorbitol dehydrogenase

hemoglobin


Input: 12/15-Lipoxygenase gene disruption and vitamin E administration diminish atherosclerosis and oxidative stress in apolipoprotein E deficient mice through a final common pathway.

atherosclerosis

atherosclerosis


Input: To determine whether ROS generation contributed to pulmonary fibrosis, we overexpressed catalase in WT monocytes and observed a decrease in ROS generation in vitro.

catalase

pulmonary fibrosis

catalase

pulmonary fibrosis


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

serotonin receptor 2A

psychotic depression

serotonin receptor 2A

psychotic depression


Input: Traditionally, autoimmune pathogeneses have been attributed to CD4 (+) T lymphocytes, as in multiple sclerosis (MS), rheumatoid arthritis, type 1 diabetes mellitus, and/or to B lymphocytes, as in myasthenia gravis and systemic lupus erythematosus.

myasthenia gravis


Input: FGFR2 is associated with bipolar disorder: a large-scale case-control study of three psychiatric disorders in the Chinese Han population.

bipolar disorder

bipolar disorder


Input: Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.

medulloblastoma

medulloblastoma


Input: Furthermore, RAX (S18A) expression in Fanconi anemia complementation group C-null MEF cells not only prevents PKR activation but also blocks hypersensitivity to IFNgamma/TNFalpha or mitomycin C that results in enhanced apoptosis.

MEF

hypersensitivity


Input: Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.

LPL

type I hyperlipoproteinemia

LPL

type I hyperlipoproteinemia


Input: We investigated the effects of COX and NOS inhibitors on the healing of duodenal ulcers, in comparison with gastric ulcers, in rats.

NOS

duodenal ulcers

NOS

duodenal ulcers


Input: The decrease in Vit D and active Vit D was concomitant with an increase in viral load, as well as levels of IL-17, IL-23 and PIIINP among all subgroups of HCV-infected patients, compared to normal healthy controls.

viral load


Input: We therefore investigated the IL-21/IL-21R system in follicular lymphoma (FL) cells.

follicular lymphoma


Input: ATP binding cassette transporters (ABCA1, ABCG1) and scavenger receptor class B type I (SR-BI) are the three most important cellular cholesterol transporters that may prevent atherogenesis.

SR-BI

atherogenesis


Input: Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).

GNAS

endogenous depression

GNAS

endogenous depression


Input: Here we present a four-year-old HGPS patient who presented several severe strokes and carried a heterozygous LMNA missense mutation in exon 2: p. Glu138Lys.

LMNA

HGPS

LMNA

HGPS


Input: In this study, we evaluated the protein expression level of RhoC in gastric cancer tissues and cell lines.

RhoC

gastric cancer


Input: Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE).

POLG

occipital lobe epilepsy


Input: Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension.

hypothermia

hypothermia


Input: A strong and distinct nuclear staining of PAX2 was found in all 39 cases of nephrogenic adenoma (100%), but not in normal prostate tissue, normal urothelium, adenocarcinomas of the prostate gland, and invasive urothelial carcinomas.

nephrogenic adenoma


Input: ASC deficiency suppresses proliferation and prevents medulloblastoma incidence.

ASC

medulloblastoma


Input: We have identified a male patient with mental retardation and autism who has a balanced translocation involving chromosomes 6 and 7, described as t (6; 7) (p11-p12; q22).

autism


Input: Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

Leigh syndrome

Leigh syndrome


Input: TRIM37 localizes to peroxisomes classifying Mulibrey nanism as a peroxisomal disorder.

Mulibrey nanism

Mulibrey nanism


Input: Stress or heat shock proteins (HSPs) such as HSP27 and HSP70 are expressed in response to a wide variety of physiological and environmental insults including heat, reactive oxygen species or anticancer drugs.

shock


Input: As a whole, our findings indicate that IGF-I overexpression in neural precursors leads to brain overgrowth and fosters external granular layer (EGL) proliferative lesions through a mechanism favoring proliferation over terminal differentiation, acting as a landscape for tumor growth.

IGF-I

overgrowth


Input: Using the electric cell-substrate sensing (ECIS) method, it was further revealed that overexpression of GDF9 in these cells markedly reduced cellular migration and adhesion.

adhesion


Input: We examined MFG-E8 expression in colonic mucosal biopsies from ulcerative colitis patients and healthy controls (n = 26 each) by real-time quantitative polymerase chain reaction (PCR), Western blot analysis and immunohistochemistry.

ulcerative colitis


Input: Virally mediated overexpression of HDAC2 in frontal cortex decreased mGlu2 transcription and its electrophysiological properties, thereby increasing psychosis-like behavior.

psychosis

psychosis


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

CGN

interstitial nephritis


Input: Because altered CRBP1 expression and promoter hypermethylation occur in several tumours, these changes were investigated in prostate tumorigenesis.

tumorigenesis


Input: Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

PIGW

hyperphosphatasia with mental retardation

PIGW

hyperphosphatasia with mental retardation


Input: Our findings indicated that the COMT gene, impulsive personality traits and childhood trauma experience were interacted to impact the age of onset of heroin use, which play a critical role in the development of heroin dependence.

COMT gene

personality traits


Input: As BCL2 protein expression is usually associated with the presence of a BCL2 translocation, fluorescence in situ hybridization should be performed to confirm this hypothesis.

translocation


Input: The residual activity observed with P225L exhibits normal pH dependence, little or no increases in the Km values for ornithine and carbamoyl phosphate and normal stability at either 37 degrees C or, in the presence of 0. 66 mol/L urea, at 0 degree C. The latter conditions were used to examine whether the P225L mutation favours dissociation of the active OTC trimer.

OTC

dissociation


Input: Nucleotide variation in IL-10 and IL-12 and their receptors and cervical and vulvar cancer risk: a hybrid case-parent triad and case-control study.

vulvar cancer


Input: Moreover, the expression of a constitutively active AKT forced the translocation of CSE1L from the cytoplasm to the nucleus in other cancer cells.

AKT

translocation


Input: The leukaemia-specific fusion oncoprotein RUNX1/RUNX1T1 (AML1/ETO), resulting from the chromosomal translocation (8; 21) in acute myeloid leukaemia (AML), imposes a striking genotype-phenotype relationship upon this distinct subtype of AML, which is mediated by multiple, co-ordinate downstream effects induced by this chimeric transcription factor.

chromosomal translocation


Input: We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability.

PED

PED


Input: C-MYC/IGH translocation is possibly an evolutionary alteration following the primary IGH translocation with BCL1, BCL2, or BCL6.

translocation


Input: MV infection causes temporal host immune suppression, which may appear secondary to signaling events through MCP on macrophages and dendritic cells.

MCP

immune suppression


Input: Perturbation of eight out of the nine genes, with Gas7, Me1 and Gpx3 being newly confirmed, resulted in significant changes in obesity-related traits.

obesity

obesity


Input: We conclude: (a) diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia; and (b) the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency.

LPL

LPL deficiency

LPL

LPL deficiency


Input: The presence of complex coronary plaque was associated with higher serum concentrations of IL-6 (P = 0. 026) and CRP (P < 0. 0001).

plaque


Input: Indomethacin produced multiple lesions in glandular mucosa, evidenced by marked increase in gastric ulcer index (GUI) accompanied by significant increases in gastric juice acidity, tissue myeloperoxidase (MPO) activity, serum NO and tissue conjugated diene (CD), and marked decreases in tissue NO and glutathione (GSH) as well as glutathione reductase (GR) and superoxide dismutase (SOD) activities, while gastric juice mucin and tissue glutathione peroxidase (GPx) were not affected.

glutathione reductase

gastric ulcer


Input: A majority of the lymphomas expressed higher mRNA levels of CB1 and/or CB2 as compared to reactive lymphoid tissue.

lymphomas


Input: Taken together, our findings did not support the model in which SARS-CoV N protein specifically modulates transcription of the FGL2 gene to cause fibrosis and vascular thrombosis.

FGL2 gene

fibrosis


Input: The 5-and 10-year survival of women with a BRCA1-associated breast cancer detected in a national MRI-based screening program in BRCA1 mutation carriers Norway was less than anticipated.

MRI

breast cancer


Input: For FISH, archival tissue (n = 6) and fresh endometriotic touch preparations were prepared from women (n = 8) undergoing extirpation of advanced stage endometriosis.

FISH

endometriosis


Input: Losses of heterozygosity and/or microsatellite instability have been detected in a large number of skin samples from breast cancer patients, suggesting a potential role of MMR in breast cancer susceptibility.

MMR

microsatellite instability


Input: Using quantitative real-time PCR (Q-PCR), we show that Prx3 is also downregulated in spinal motor neurons from patients with both sporadic (sMND) and SOD1-related fMND.

MND

MND


Input: Human adenoviruses from multiple species bind to coagulation factor X (FX), yet the importance of this interaction in adenovirus dissemination is unknown.

coagulation factor X

adenovirus


Input: We found significant difference in creatinine level in DN and NDN groups on comparison with control group.

NDN

creatinine level


Input: The data suggest that the expression of EIF3S3 is increased in prostate cancer, and that one of the mechanisms underlying the overexpression is the amplification of the gene.

prostate cancer

prostate cancer


Input: We conducted a case-control study of colorectal adenoma (914 cases, 1185 controls) and CRC (496 cases, 607 controls) among Japanese Americans, European Americans and Native Hawaiians to investigate the association of genetic variation in the PAH and HAA bioactivation pathway (CYP1A1, CYP1A2, CYP1B1, AHR and ARNT) identified through sequencing with risk of colorectal neoplasia, as well as their interactions with smoking and intakes of red meat and HAAs.

AHR

smoking


Input: Furthermore, DBC1-deficient mice were protected from HFD-induced liver steatosis and inflammation, despite the development of obesity.

liver steatosis


Input: This study was designed to evaluate the effect of adenovirus-mediated in vitro gene transfer of tissue inhibitor of metalloproteinases-2 (TIMP-2) and phosphatase and tensin homology deleted on chromosome ten (PTEN) on invasion of human U87 glioma cells.

glioma


Input: In atopic asthma, the frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was significantly lower than that in the mild group.

mild


Input: Epidermal growth factor receptor (EGFR) gene amplification and protein expression in malignant gliomas (anaplastic astrocytoma, AA and glioblastoma, GBL) were suggested to be correlated with the degree of malignancy.

GBL

glioblastoma


Input: Clonal expansions of CD4 + B helper T cells in autoimmune myasthenia gravis.

myasthenia gravis


Input: Expression of bcl-2 is most commonly associated with the t (14; 18) translocation present in most folicular lymphomas (1).

translocation


Input: Alternatively, other as yet unknown imprinted gene (s) adjacent to IMPACT could contribute to the BPAD trait, since multiple imprinted genes may occasionally form clusters.

IMPACT

BPAD

IMPACT

BPAD


Input: The data indicate that DBS, like other effective antidepressant treatments, may contribute to an increase in peripheral BDNF levels, which are thought to reflect central nervous DBS-induced neuroplastic changes.

DBS

nervous


Input: Intermittent clamping of the porta hepatis (PHC) is commonly performed during liver surgery to reduce blood loss and has been reported to precondition livers resulting in improved outcome after liver surgery (humans) and transplantation (animals).

PHC

blood loss


Input: The aim of the study was to examine whether the circulating cell adhesion molecules, von Willebrand factor (vWf) and endothelin-1, are elevated in patients with essential hypertension with no other risk factors for atherosclerosis and thus may serve as a markers of endothelial dysfunction in uncomplicated hypertension.

von Willebrand factor

essential hypertension


Input: We screened the expression profile of AQP0 approximately AQP12 in gastric adenocarcinoma tissues and corresponding normal mucosa from 89 patients with gastric cancer by reverse transcriptase polymerase chain reaction (RT-PCR), Western blot analysis and immunochemical assay.

gastric adenocarcinoma


Input: All affected subjects had abnormal pattern electroretinograms (ERGs) consistent with macular dysfunction and 4 subjects showed additional full-field ERG abnormalities, providing evidence of generalized retinal dysfunction.

ERG

abnormalities


Input: AMPKalpha2 repression with RNA interference reduced hypoxia-induced VEGF mRNA and HIF-1 transcription, whereas AMPKalpha1 repression did not.

VEGF

hypoxia


Input: Mutations in the MMAC/PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene are documented in cancers of the breast, prostate, ovary, colon, melanoma, glioblastoma, lymphoma and endometrium.

tensin

glioblastoma


Input: 17AAGA diminished hypoxia-induced upregulation of VEGF expression as well as growth factor-mediated augmentation of MMP-9 secretion, and profoundly inhibited the ability of H322 and H358 cells to migrate through Matrigel in response to chemoattractants.

VEGF

hypoxia


Input: It has been shown that mesothelioma expresses the antiapoptotic protein BCL-XL, but not BCL-2, rendering bcl-xl gene expression a potential therapeutic target.

bcl-xl

mesothelioma


Input: Although the mechanism of such alterations in MARCKS in depressed and non-depressed suicide subjects is not clear, results of the present study indicate that an increase in membrane MARCKS is associated with depressed suicide victims and a decrease in MARCKS phosphorylation may be a common feature of suicide victims independent of diagnosis.

MARCKS

suicide


Input: In vitro studies also confirmed that Tanshinone IIA alleviated the hypoxia-induced decline of cell viability and the overload of intracellular free iron level in neurons through downregulating the expression of DMT1 and TfR, and upregulating the expression of Fpn1 and Heph.

hypoxia


Input: Blockade of Noxa reduced the apoptotic response of embryonal carcinoma (EC) NTERA2 cells to cisplatin.

Noxa

embryonal carcinoma


Input: Non-small cell lung cancer (NSCLC) tumors have increased microvascular density, localized hypoxia, and high VEGF expression levels; however, there is a lack of understanding of how oncogenic and tumor microenvironment changes such as hypoxia lead to greater VEGF expression in lung and other cancers.

VEGF

hypoxia


Input: Increased p53 expression, a measurement of p53 mutations, was observed in BE with high grade dysplasia (HGD) and in BE-associated esophageal cancer (EC).

HGD

esophageal cancer


Input: The available literature is still controversial and shows that surgical (parathyroidectomy, PTX) or medical (calcitriol) treatment actually improved or even corrected the rhEPO-resistant anemia of ESRD patients with severe SHP.

SHP

anemia


Input: Twenty-four-hour DBP, 24-h MBP, LVM, LVM: height ratio, total cholesterol and PRA values were significantly higher in normotensive obese offspring of hypertensive parents than in obese offspring of normotensive parents.

PRA

height


Input: We identified germline LZTR1 mutations in 6 of 16 patients (37. 5%) with schwannomatosis who had at least one affected relative, 11 of 49 (22%) sporadic patients, and 2 of 39 patients with UVS in our cohort.

sporadic


Input: We investigate whether interleukin-10 (IL-10)-1082 G/G genotype is associated with the mortality rate of acute respiratory distress syndrome (ARDS) in a hospital-based case-control study in China conducted on 314 patients with ARDS and 210 controls admitted to an intensive care unit for sepsis, trauma, aspiration, or massive transfusions.

aspiration


Input: Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer' s disease progression: CX3CL1, TREM2, and PPARγ.

sporadic


Input: A subset of patients with MTS have a variant of the hereditary nonpolyposis colorectal cancer syndrome caused by mutations in mismatch repair (MMR) genes, which lead to microsatellite instability (MSI).

MMR

microsatellite instability


Input: CONCLUSIONS: RUNX1 copy numbers seem to be proportional to the age of B-ALL onset and the frequency of CSF involvement, while RUNX1 amplification vs translocation causes aberrant expression of CD7 and CD13, respectively.

translocation


Input: In five patients with surgically resected glioblastoma who were inoculated with " triple helix " cells, PBL showed an increased percentage of CD4 + CD25 + and CD8 + CD11b-cells, following two vaccinations.

glioblastoma


Input: It was therefore hypothesised that an MGMT field defect may constitute a preneoplastic event for the development of MMR-deficient tumours displaying microsatellite instability (MSI).

MMR

microsatellite instability


Input: Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

keratin 17

pachyonychia congenita type 2

keratin 17

pachyonychia congenita type 2


Input: The GAT1-mediated release of [(3) H] d-ASP was significantly enhanced in spinal cord gliosomes from the mouse model of ALS.

ALS

ALS


Input: Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome.

AR

partial androgen insensitivity syndrome

AR

partial androgen insensitivity syndrome


Input: LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both central-nervous-system axon regeneration and oligodendrocyte maturation.

nervous


Input: We have used a conditional gene-targeting approach to investigate the relative contributions of HIF-1 and HIF-2 to VHL-associated vascular tumorigenesis in a mouse model of liver hemangiomas.

tumorigenesis


Input: We found that CART and nesfatin/NUCB2 colocalized in the human EWcp, and that CART mRNA content was much higher in both male (× 3. 8) and female (× 5. 9) drug-free suicide victims than in controls (persons who died without any diagnosed neurodegenerative or psychiatric disorder).

suicide


Input: A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.

B-ALL

B-ALL


Input: Lack of involvement of ataxia telangiectasia mutated (ATM) in regulation of nuclear factor-kappaB (NF-kappaB) in human diploid fibroblasts.

NF-kappaB

telangiectasia


Input: Our results disclosed an important role of BTG3 in lung tumorigenesis.

tumorigenesis


Input: Likewise, there was a reduction in PTEN levels in human premalignant actinic keratosis and malignant SCCs, supporting a key role for PTEN in human skin cancer formation and progression.

PTEN

actinic keratosis


Input: Down-regulation of neutrophil gelatinase-associated lipocalin in head and neck squamous cell carcinoma correlated with tumorigenesis, not with metastasis.

neutrophil gelatinase-associated lipocalin

tumorigenesis


Input: In this study, we evaluated the effects of mouse interleukin-6 (IL-6) on the classical behavioural test of scopolamine-induced amnesia for a passive avoidance response in the mouse. Pretraining i. p. administration of this cytokine (0. 125 and 0. 5 microgram/mouse) significantly reduced the amnesic action of the muscarinic receptor antagonist.

amnesia

amnesia


Input: The aim of this study was to identify the mutations in two previously characterized clusters of patients with Dubin-Johnson syndrome among Iranian and Moroccan Jews and determine the consequence of the mutations on MRP2 expression and function by expression studies.

Dubin-Johnson syndrome

Dubin-Johnson syndrome


Input: We now report that in comparison to LacZ transfected control mice gene transfer with sMSR adenoviruses via tail vein injection (1 x 10 (9) pfu) reduces atherosclerotic lesion area in hypercholesterolemic LDL receptor knock-out mice by 14 (P < 0. 05) and 19% (P = 0. 01), 4 and 6 weeks after the gene transfer.

mice gene

atherosclerotic lesion


Input: We identified one patient with typical CDG-Ic symptoms and a homozygous p. Tyr131His alteration in ALG6.

CDG-Ic

CDG-Ic


Input: A recently developed, highly sensitive HGF assay can detect the early stages of arterial thrombosis in patients with unstable angina pectoris, acute aortic dissection and pulmonary thromboembolism.

HGF

unstable angina pectoris