Input: We conducted an association study by genotyping four SNPs (rs2244012 and rs6871536 in RAD50 as well as rs1295686 and rs1800925 in IL13) in 652 asthmatic children and age-matched 752 healthy controls from Northeastern Han Chinese to evaluate the asthma susceptibility with each individual SNP using SNaPshot genotyping method.

asthma susceptibility


Input: Oligoasthenoteratozoospermia (OAT) is a phenotype frequently observed in infertile men, and is defined by low spermatozoa number, abnormal spermatozoa morphology and poor motility.

OAT

infertile


Input: Exposure of C6 glioma cells to lipopopolysaccharide (LPS) resulted in increased expression of NOS2 and production of NO that was dramatically potentiated by Mn and was blocked through overexpression of mutant IkappaBalpha (S32/36A).

glioma


Input: Clinically, patients with mutations in C2ORF71 show signs of typical RP; these signs include poor night vision and peripheral field loss, typical retinal bone-spicule-type pigment deposits, pale appearance of the optic disk, and markedly reduced or completely extinguished electroretinograms.

pigment


Input: In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2,-4, and-5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy.

childhood ataxia with central nervous system hypomyelination

childhood ataxia with central nervous system hypomyelination


Input: After a 12-week high-fat diet (60% fat), lgals3 (-/-) mice had lower body weight and eWAT mass than lgals3 (+/+) mice.

body weight


Input: Expression of growth factors and their receptors in human esophageal carcinomas: regulation of expression by epidermal growth factor and transforming growth factor alpha.

epidermal growth factor

esophageal


Input: These studies suggest that increased expression of cyclin D1 is an early event in the tumorigenic process of esophageal adenocarcinomas and that the increased expression of this gene might predispose the epithelium to malignant transformation.

cyclin D1

esophageal


Input: Using quantitative polymerase chain reaction (PCR), we found that high levels of JAK2 617V > F in PV correlate with increased granulocytes and high levels of hemoglobin and endogenous erythroid colony formation.

hemoglobin


Input: In addition, our detailed mutational analysis of MID1 in a cohort of 15 patients with OS has resulted in the identification of seven novel mutations, two of which disrupt the N-terminus of the protein.

OS

OS


Input: The Hsp90 cochaperone FK506 binding protein 5 (FKBP5) is an established regulator of the glucocorticoid receptor (GR), and numerous genetic studies have linked it to stress-related diseases such as major depression or posttraumatic stress disorder.

major depression

major depression


Input: CLB/LN pathology is the most significant correlate of dementia in PD.

CLB

dementia


Input: A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus.

arginine vasopressin

neurohypophyseal diabetes insipidus

arginine vasopressin

neurohypophyseal diabetes insipidus


Input: Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer.

sporadic


Input: To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.

IFN

sporadic


Input: Functional analysis of these mutations demonstrated that retinal disease may result from perturbation of pH homeostasis in the outer retina, after disruption of CAIV and sodium bicarbonate cotransporter 1 (NBC1)-mediated bicarbonate transport.

CAIV

retinal disease


Input: We identified previously unknown 5' fusion partners in prostate tumours with ETV1 outlier expression, including untranslated regions from a prostate-specific androgen-induced gene (SLC45A3) and an endogenous retroviral element (HERV-K_22q11. 23), a prostate-specific androgen-repressed gene (C15orf21), and a strongly expressed housekeeping gene (HNRPA2B1).

prostate tumours

prostate tumours


Input: Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models.

Hirschsprung disease

Hirschsprung disease


Input: Six of these Dravet syndrome patients with SCN9A missense variants also harbored either missense or splice site SCN1A mutations and three had no SCN1A mutations.

Dravet syndrome

Dravet syndrome


Input: In the HTN genes population, there were no significant differences based on the number of functional CYP3A5 alleles, in systolic blood pressure (SBP) or diastolic blood pressure (DBP) among the normotensive whites or blacks (all P > or = 0. 70) or in allele frequency between normotensives and hypertensives.

DBP

systolic blood pressure


Input: After ischemia, p75 (NTR) and NADE were induced in degenerating rat hippocampal CA1 neurons.

ischemia


Input: We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex.

skin lesions


Input: Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

aspartoacylase

Canavan disease

aspartoacylase

Canavan disease


Input: TSPO modulation with ligands in the Alzheimer' s disease mouse model showed improvement in behavioral symptoms, and studies in Drosophila species showed increased cell survival and prolonged lifespan in flies after TSPO inhibition.

TSPO

behavioral symptoms


Input: Furthermore, MCP-4 correlated with homeostasis model assessment of insulin resistance (r = 0. 392, p = 0. 002), high-sensitivity C-reactive protein (hsCRP) (r = 0. 350, p = 0. 006).

C-reactive protein

insulin resistance


Input: The lipid and protein phosphatase, PTEN (Phosphatase and Tensin homology protein on chromosome 10), is a known tumor suppressor whose function is frequently lost in various malignancies due to mutations in the coding region or genomic deletions.

Tensin

malignancies


Input: Treatment of nude mice bearing subcutaneously established HCC tumors with a combination of an adenovirus expressing TIP30 and the cytotoxic drug 5-fluorouracil completely suppressed tumor growth and prolonged survival.

HCC

adenovirus


Input: There was a profound decrease in bone formation rate (BFR) with aging in CTR rats, whereas PTH treatment resulted in a significant relative 1. 5-, 3-, and 4. 7-fold increase in BFR, without altering indices of bone resorption.

CTR

bone resorption


Input: Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism.

language delays

language delays


Input: Using microcomputed tomography, histology, and serum markers, we found that EPO induced a 32%-61% trabecular bone loss caused by increased bone resorption (+ 60%-88% osteoclast number) and reduced bone formation rate (-19 to-74%; P < 0. 05 throughout).

EPO

bone resorption


Input: This study suggests that alteration of the p53 gene is implicated in the development of cancers complicating ulcerative colitis, as it is in the development of sporadic colorectal cancers, and it appears to be involved at a relatively early stage.

p53 gene

sporadic


Input: In unirradiated lymphoblasts, & #947; H2AX levels were significantly increased in the schizophrenia group compared with controls (effect size = 0. 86).

schizophrenia

schizophrenia


Input: beta2-adrenergic receptor gene polymorphisms in myasthenia gravis (MG).

myasthenia gravis


Input: The upregulation of CXCR4 and downregulation of CXCR7 expression by PAX3-FKHR or hypoxia may give SDF-1 an advantage to better engage the CXCR4 receptor, thus increasing RMS motility.

hypoxia


Input: Compared with parental T24-L cells, epithelial-like T24-B cells displayed increased adhesion but decreased migration or invasion abilities as well as up-regulation of cytokeratins and down-regulation of vimentin, N-cadherin and MMP2.

adhesion


Input: Epigenetic reactivation of Nrf2 in murine prostate cancer TRAMP C1 cells by natural phytochemicals Z-ligustilide and Radix angelica sinensis via promoter CpG demethylation.

prostate cancer

prostate cancer


Input: AMOG-mediated Akt phosphorylation specifically activates the mTOR/p70S6 kinase pathway previously implicated in cell size regulation, but it does not depend on tuberous sclerosis complex/Ras homolog enriched in brain (Rheb) signaling.

AMOG

tuberous sclerosis complex


Input: Here, we reveal higher levels of glutamate in the plasma of PKC patients and the culture medium of neurons following knock-out Prrt2 expression.

PKC

PKC


Input: As another new mechanism underlying MSI, overexpression of miR-155 or miR-21 has been shown to downregulate the expression of the MMR genes.

MSI

MSI


Input: We therefore assessed PIK3CA for mutation in human neuroblastomas, as well as in neuroblastomas arising in transgenic mice with MYCN overexpressed in neural-crest tissues.

crest


Input: After multivariate adjustment, the CYP1B1 rs162555 CC genotype was associated with a 9. 4% higher mammographic density than the TC/TT genotype (P = 0. 04).

mammographic density


Input: In this study the proportion of sporadic and familial malignant melanoma (MM) cases harbouring 1100delC in CHK2 was determined to assess whether this mutation is associated with the occurrence of MM.

sporadic


Input: Since identification of the NF2 gene more than a decade ago, a large body of information has been collected on the nature and consequences of these alterations in patients with NF2 and in individuals in whom sporadic tumors associated with NF2 develop.

NF2 gene

sporadic


Input: These results suggest that the expression of LPL enzyme protein is impaired in patients with hypertriglyceridemia coupled with hypertension, impaired glucose tolerance and hyperinsulinemia, and the impaired expression of LPL recovers during treatment with bezafibrate, resulting in improvement of hypertriglyceridemia.

LPL

hypertriglyceridemia

LPL

hypertriglyceridemia


Input: We conclude that the ANX7 gene exhibits many biological and genetic properties expected of a TSG and may play a role in prostate cancer progression.

TSG

prostate cancer


Input: Our results suggest that telomerase is expressed during the early stage of gastric carcinogenesis, and that the clinical significance of TRF length appears to be limited in gastric cancer.

TRF

gastric cancer


Input: The hallmark of SEB-induced lethal shock is acute vasodilation leading to severe hypotension.

SEB

hypotension


Input: Isodicentric Y (p11. 32) chromosome in an infant with mixed gonadal dysgenesis.

mixed gonadal dysgenesis


Input: The constitutive expression of MUC2 and MUC3 mRNA in inflammatory bowel diseases suggests that these genes may be necessary for maintenance of normal epithelial cell function during inflammation.

inflammation


Input: After the onset of stroke, an increase in AcPAO first occurred, followed by increased levels of SMO and finally acrolein.

SMO

stroke

SMO

stroke


Input: Genes with altered expression in the heart due to hyperlipidemia included procollagen type III, cofilin/destrin, tensin, transcription repressor p66, synaptic vesicle protein 2B, Hsp86, chaperonin subunit 5epsilon, metallothionein, glutathione S-transferase, protein kinase C inhibitor, ATP synthase subunit c, creatine kinase, chloride intracellular channel 4, NADH oxidoreductase and dehydrogenase, fibronectin receptor beta chain, CD81 antigen, farnesyltransferase, calreticulin, disintegrin, p120 catenin, Smad7, etc.

hyperlipidemia


Input: There was a significant difference in the overall distribution of the haplotype (UCP3 rs180049, UCP3 rs2075577, UCP2 rs660339) between the weight groups (P = 0. 010), and in women, there was a significant difference (P = 0. 042) in the overall distribution of the haplotype (UCP3 rs2075577, UCP2 rs660339).

weight


Input: The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases.

CHN

congenital hypomyelinating neuropathy


Input: Here, we demonstrate that hypoxia and REDD1 suppress mammalian TORC1 (mTORC1) activity by releasing TSC2 from its growth factor-induced association with inhibitory 14-3-3 proteins.

hypoxia


Input: CT administration produced a significantly reduction (p & lt; 0. 05) in the mechanical hyperalgesia induced by CG, TNF-& #945;, PGE2 and DA when compared with control group.

TNF

mechanical hyperalgesia

TNF

mechanical hyperalgesia


Input: A cohort of 1163 unrelated patients with IBD (874 Crohn' s disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.

indeterminate colitis


Input: Sonic hedgehog (Hh) developmental pathway deregulation has been proven to play an essential role in several malignancies as neuroblastoma.

Sonic hedgehog

neuroblastoma


Input: The purpose of this study is to investigate the clinical relevance of deletion of ovarian carcinoma 2/disabled homolog 2 (DOC-2/DAB2) interacting protein (DAB2IP) expression in human urothelial carcinoma (UC).

ovarian carcinoma


Input: However, in colorectal cancer (CRC) cells, the mechanisms that regulate SOCS and SHP1 genes, and the cause of abnormalities in the JAK/STAT signaling pathway, remain largely unknown.

abnormalities


Input: A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene.


Input: To explore the effects of NDG on stereotyped behavior, homovanillic acid (HVA) in sera, dopamine (DA) and dopamine D2 receptor (DRD2) in striatum in TS rats.

stereotyped behavior


Input: Studies have demonstrated that adenovirus subtype 5 mediated rat insulin promoter directed thymidine kinase (A-5-RIP-TK)/ganciclovir (GCV) gene therapy resulted in significant enhanced cytotoxicity to both PANC-1 and MIA PaCa2 pancreatic cancer cells in vitro.

MIA

adenovirus


Input: In the present study we investigated, by means of zymography and reverse transcription-polymerase chain reaction (RT-PCR), the expression of different matrix metalloproteinases (MMPs) and of the specific tissue inhibitor of metalloproteinases [TIMPs] in human cell lines derived from normal thyrocytes (HTU5), follicular adenoma (HTU42), and follicular (FTC-133), papillary (B-CPAP), and anaplastic (CAL-62, 8305C) thyroid carcinomas.

CPAP

carcinomas


Input: Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.

AIRE

APECED

AIRE

APECED


Input: Mutations in BRCA1 and BRCA2 account only for a relatively small proportion of breast cancers, even within the group of familiar clusters, they seem to be virtually non-existing in sporadic breast cancers.

sporadic


Input: Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (complex or complicated SPG).

SPG

progressive spasticity


Input: This study aimed to assess the biologic significance of p53, heat shock protein 70 (Hsp70), Ki67, and CD34 and their influence on survival in patients with tongue cancer.

tongue cancer


Input: In the present study, oxytocin (OXT) receptor was detected at the protein level in total cell lysates from C81 (an androgen-independent subline of LNCaP), DU145 and PC3 prostate cancer cells, but not in immortalized normal prostate luminal epithelial cells (RWPE1), and OXT-induced migration of PC3 cells.

OXT

prostate cancer


Input: Hepatocyte growth factor both prevents and ameliorates the symptoms of dermal sclerosis in a mouse model of scleroderma.

Hepatocyte growth factor

sclerosis


Input: Forty-four male SD rats were randomly divided into 8 groups: 4-week control group (n = 7), 4-week shunt group (n = 7), 4-week shunt + propargylglycine (PPG, an endogenous H2S release inhibitor) intraperitoneal injection group (n = 8), 11-week control group (n = 7), 11-week shunt group (n = 7), and 11-week shunt + sodium hydrosulfide (NaHS, a H2S donor) intraperitoneal injection group (n = 8).

PPG

shunt


Input: Noteworthy, BATF, crucial for the immunoglobulin-class-switch and T (H2), T (H17) development, was found down-regulated in the lungs of T-bet ((-/-)) mice after SIT and after treatment with anti-IL-6R antibody, indicating a critical role of IL-6 in controlling BATF/IRF4 integrated functions in T (H2), T (H17) cells and B cells also in a T-bet independent fashion in allergic asthma.

allergic asthma


Input: Eight additional patients with AR cerebellar ataxia and atrophy were screened for mutations in the CABC1/ADCK3 gene.

atrophy


Input: The percentage of immunohistochemical positivity for p16 had the following distribution across the groups: VIN: 21. 4% (6/28), cancer: 24. 3% (9/37) and control: absent (p = 0. 202).

VIN

cancer


Input: Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Bowen-Conradi syndrome

Bowen-Conradi syndrome


Input: Insights into this role have emerged from studies on the tumour suppressor BRCA2, whose inactivation in human cancers causes chromosomal instability through the loss of essential functions of the BRCA2 protein in the normal mechanisms responsible for the replication, repair and segregation of DNA during cell division.

chromosomal instability


Input: A second level of molecular genetic heterogeneity stems from the variation in the location of the translocation breakpoints, resulting in the inclusion of different combinations of exons from EWS and FLI1 (or ERG) in the fusion products.

EWS

translocation


Input: OBJECTIVES: We have previously shown that genetic variance in NEDD4L, a regulating protein of a sodium channel in the distal nephron, has been associated with marginally higher blood pressure and enhanced salt sensitivity.

blood pressure


Input: Jumonji domain containing 1A is a novel prognostic marker for colorectal cancer: in vivo identification from hypoxic tumor cells.

Jumonji

hypoxic


Input: In intestinal samples of BD, TLR-2 and TLR-4 mRNA were detected in ileocaecal ulcer lesions, but not in unaffected sites of the same sample, indicating the association of the TLR expression with the disease manifestation of intestinal BD.

ulcer


Input: Role of TPPP/p25 on α-synuclein-mediated oligodendroglial degeneration and the protective effect of SIRT2 inhibition in a cellular model of multiple system atrophy.

multiple system atrophy


Input: NF-kappaB regulates transcription of adhesion molecules and chemokines.

NF-kappaB

adhesion


Input: The authors' results in this study indicate that IL-6 expression may contribute to the development of brain edema associated with meningiomas.

brain edema


Input: Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene.

heterotaxia


Input: The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA).

vascular remodeling


Input: We screened the entire coding region of the APC gene for mutations in an unselected series of 105 Dutch FAP kindreds.

APC

FAP

APC

FAP


Input: The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression.

bipolar disorder

bipolar disorder


Input: Sanger sequencing of CDH23 p. P240L was performed on connexin-negative samples without enlarged vestibular aqueducts (EVA), followed by targeted resequencing of 129 deafness genes, including CDH23, unless p. P240L homozygotes were detected in the first screening.

EVA

deafness


Input: In this study, we aim to determine whether EFEMP1 affects the tumorigenesis and progression of endometrial carcinoma.

tumorigenesis


Input: Functional studies are required to validate the potential involvement of KCNIP4 in modulating asthma susceptibility and/or AHR.

AHR

asthma susceptibility


Input: PON1 haplotypes segregate with HIV infection, HDL metabolism, the presence of subclinical atherosclerosis, and CD4 (+) cell recovery after treatment.

atherosclerosis


Input: Twenty of 43 (47%) and 10 of 26 (38%) primary breast cancer samples which showed downregulation of TSLC1 and DAL-1 expression were unmethylated for these genes.

breast cancer

breast cancer


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

adhesion


Input: We have successfully isolated a cell line (IEC-1) from an intraepidermal carcinoma of the skin of a patient and compared its behavior, in vitro, to normal human epidermal keratinocytes (HEK) and squamous cell carcinoma cell lines (SCCs).

HEK

squamous cell carcinoma


Input: COX-2-derived prostanoids play a fundamental role in the development of Ang II-induced AAAs in both hyperlipidemic and nonhyperlipidemic mice.

AAA

AAA


Input: Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL.

cathepsin D

NCL

cathepsin D

NCL


Input: GST pi expression was studied in transgenic mice hybrids (B6-C3H) with symptoms of neurodegeneration harboring SOD1G93A (SOD1/+), Dync1h1 (Cra1/+) and double (Cra1/SOD1) mutations, at presymptomatic and symptomatic stages (age 70, 140, 365 days) using RT-PCR and Western blotting.

neurodegeneration


Input: Gq alpha and PLC-beta may play important roles in scar remodeling as well as cardiac hypertrophy and fibrosis of the surviving tissue in post-MI rat heart.

PLC

scar


Input: Increased Her2 expression may potentially lead to an aggressive behavior of tumor cells through the stimulation of tumor cell proliferation because Her2 staining was shown to be significantly associated with Ki67 labeling index.

aggressive behavior


Input: We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4. 1. 40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized.


Input: Immunostaining analysis of p53 protein accumulation suggested that alterations of the p53 gene are as common in familial as in sporadic gliomas.

p53 gene

sporadic


Input: Thus, detection of t (1; 14) (p22; q32) and t (11; 18) (q21; q21) is useful in the differential diagnosis between lymphoplasmacytic lymphoma and mucosa-associated lymphoid tissue lymphoma.

mucosa-associated lymphoid tissue lymphoma


Input: Sulindac enhances adenoviral vector expressing mda-7/IL-24-mediated apoptosis in human lung cancer.

lung cancer

lung cancer


Input: Association analysis between the prostaglandin E synthase 2 R298H polymorphism and body mass index in 8079 participants of the KORA study cohort.

prostaglandin E synthase 2

body mass index


Input: mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.

breast tumors

breast tumors


Input: In cell-spreading assays, CD147 was found to be essential for dynamic focal adhesion enlargement and disassembly.

enlargement


Input: MiR-221 promotes the development of androgen independence in prostate cancer cells via downregulation of HECTD2 and RAB1A.

prostate cancer


Input: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

galactokinase deficiency

galactokinase deficiency


Input: The study also aimed to examine the effect of ARHI on the activity of the nuclear factor (NF)-κB and to determine whether ARHI acts as a tumor suppressor in the development of pancreatic cancer by inhibiting the activity of NF-κB.

ARHI

pancreatic cancer


Input: In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin).

beta-catenin

medulloblastomas

beta-catenin

medulloblastomas


Input: We analyzed XAF1 methylation in a panel of 16 GB cell lines and 80 patients with first-diagnosed WHO grade III/IV high-grade gliomas using methylation-sensitive high-resolution melt (MS-HRM) analysis.

gliomas

gliomas


Input: Consistent with a pathogenic role for MRP4 in PAH, WT mice exposed to hypoxia for 3 weeks showed reversal of hypoxic pulmonary hypertension (PH) following oral administration of the MRP4 inhibitor MK571, and Mrp4-/-mice were protected from hypoxic PH.

hypoxic


Input: We conclude that 1) sporadic hypoparathyroidism can be caused by de novo gain-of-function mutations of the CaR; 2) the phenotype can vary from mild to life-threatening hypocalcemia; 3) gain-of-function mutations can involve not only extracellular regions, as previously reported, but also transmembrane domains of the CaR; and 4) the mechanism of activation can involve both increased receptor sensitivity to Ca2 + and increased maximal signal transduction.

hypoparathyroidism


Input: Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.

major depression

major depression


Input: AKAP95 pathway and pantothenate and CoA biosynthesis were unique to MD.

MD

MD


Input: PIM1 protein levels and mRNA levels were significantly upregulated in astrocytoma tissues, indicating the oncogenic role of PIM1 in astrocytoma.

astrocytoma


Input: Thus, lower PPARγ and PON2 gene expression in the BALF of children with CF is associated specifically with P. aeruginosa infection and neutrophilia.

PPARγ

neutrophilia


Input: The C1QTNF5 gene encodes a secreted and membrane-associated protein involved in adhesion of retinal pigmented epithelial cells (RPE) to Bruch' s membrane.

RPE

adhesion


Input: Although the total protein expressions of IR-β, IRS-1, PI3K, PKB and GLUT4 in skeletal muscle were not affected, insulin-stimulated GLUT4 translocation and phosphorylation of Tyr-IR-β, Tyr612-IRS-1, p85-PI3K, Ser473-PKB, and Thr308-PKB were significantly increased by CHS supplement.

translocation


Input: Our data suggest that SPRY4-IT1 plays a critical role in GC tumorigenesis and may represent a novel prognostic marker and potential therapeutic target in patients with GC.

tumorigenesis


Input: The number of positive cells per millimeter of basement membrane for both IL-13 and IL-4 mRNA was increased significantly in the bronchial mucosa of atopic asthmatics compared to normal controls (p <. 001).

atopic


Input: Autoimmune thyroid diseases (AITDs), which include Hashimoto thyroiditis (HT), Graves' disease (GD) and primary idiopathic myxoedema (PIM), are recognized as multifactorial diseases.

PIM

thyroid diseases


Input: TNF-alpha changes the electrophysiological properties of myenteric neurones via cyclooxygenase metabolites and protein tyrosine phosphorylation; the cells primarily responding to the cytokine seem to be non-neuronal cells in the ganglion culture, which respond with a nuclear STAT5 translocation suggesting an action on gene transcription.

TNF-alpha

translocation


Input: Hence, heterozygous p35 knockout mice model both cognitive endophenotypes and molecular changes reminiscent of schizophrenia.

schizophrenia

schizophrenia


Input: Our finding suggests that rs2249825 of HMGB1 genetic polymorphisms are significantly associated with HT and diastolic blood pressure, and the genetic effect on HT is modulated by age.

diastolic blood pressure


Input: We report 5 cases (World Health Organization grade III) in which metaphase cytogenetics identified a derivative chromosome consisting of what appears to be the whole arms of 1q and 19p forming a der (1; 19) (q10; p10).

arms


Input: The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1.

central nervous system disorders


Input: The effects of oltipraz on body weight, fat content, glucose disposal, insulin signalling, metabolic profiles and endogenous NRF2 functional status in the three groups of mice were investigated.

body weight


Input: Our results suggest that the risk of early childhood wheeze associated with early maternal smoking may be modified by TNF and GSTP1 polymorphisms.

TNF

smoking


Input: Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

synpolydactyly

synpolydactyly


Input: ARNTL, ARNTL2, VIP and ADCYAP1 were indicated as having influence on alcohol use or abuse.

VIP

alcohol use


Input: PTEN (phosphatase and tensin homologue deleted on chromosome ten) is a tumor suppressor gene implicated in a wide variety of human cancers, including glioblastoma.

tensin

cancers


Input: Through the contribution of IL-17, some Th1-like T cells appear to mediate synovial inflammation.

inflammation


Input: The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion.

fractalkine

neurodegeneration


Input: Administration of synthetic TCAP-1 into the basolateral amygdala significantly increases the acoustic startle response in low-anxiety rats and decreases the response in high-anxiety animals in a dose-dependent manner.

TCAP

anxiety


Input: Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.

PTEN

Juvenile polyposis of infancy

PTEN

Juvenile polyposis of infancy


Input: Rats treated with ibuprofen after transient forebrain ischemia displayed long-lasting protection of CA1 hippocampal neurons.

ischemia


Input: Molecular genetic analysis of von Hippel-Lindau tumor suppressor gene (VHL gene) was performed on 38 tissues of human glial tumors (ependymoma, 1; astrocytoma, 6; oligodendroglioma, 1; oligoastrocytoma, 2; anaplastic oligoastrocytoma, 3; anaplastic astrocytoma, 14; glioblastoma multiforme, 11).

VHL gene

oligodendroglioma


Input: ST7-mediated suppression of tumorigenicity of prostate cancer cells is characterized by remodeling of the extracellular matrix.

prostate cancer


Input: We investigated a recently identified variant of the UCP2 gene in exon 8 as a marker for glucose and weight homeostasis.

UCP2 gene

weight


Input: Immunohistologic staining for nm23-H1 protein shows different staining patterns and percentages of stained cells in squamous cell carcinoma of the vulva.

squamous cell carcinoma of the vulva


Input: Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Lethal multiple pterygium syndrome

Lethal multiple pterygium syndrome


Input: In univariate analyses, no association was seen with age, weight, body mass index, gender, or pack-years smoking; tumor grade, stage, or patient performance status; p53 or c-erbB2 immunohistochemical staining, or p53 mutations.

body mass index


Input: Dysregulation of tensin proteins has previously been implicated in human cancers.

tensin

cancers


Input: Results of the analysis of matched sets of primary tumors and lymph node metastases were also consistent with the lack of a strong association between increased copy number of c-erbB-2 proto-oncogene and aggressiveness of tumors.

c-erbB-2 proto-oncogene

aggressiveness


Input: At the 4-year follow-up, subjects in the highest FABP4 tertile at baseline exhibited higher values for body mass index, fat mass and percent body fat, as well as blood pressure, fasting glucose, total cholesterol, triglycerides, low-density lipoprotein (LDL)-cholesterol, insulin, homeostasis model assessment of insulin resistance, monocyte chemoattractant protein-1 and tumor necrosis factor-α levels (all P < 0. 05).

monocyte chemoattractant protein-1

body mass index


Input: Numerous allelotype studies indicate that allelic deletions Including the BRCA2 locus on chromosome 13q are common in ovarian cancers in general, suggesting that somatic mutations of this gene may be involved in sporadic ovarian tumorigenesis.

sporadic


Input: To identify immunoglobulin variable heavy chain (VH) gene usages in Korean ankylosing spondylitis (AS) patients, expression level of VH2 genes from peripheral blood mononuclear cells (PBMCs) of 8 AS patients and 9 healthy donors was analysed by quantitative real-time PCR (Q-PCR).

heavy chain

ankylosing spondylitis


Input: In the present study PCR-SSCP was used to examine the exons 4-9 of the p53 gene in paired peripheral blood leucocyte and tumour DNA in a variety of adrenal tumours, including aldosterone-producing carcinoma and adenoma (both familial and sporadic), phaeochromocytoma and incidentaloma.

p53 gene

sporadic


Input: Knockdown of Nrf2 expression using an siRNA approach attenuated basal Nox4 expression; however, it enhanced superoxide/ROS generation under both normoxia and hyperoxia.

hyperoxia


Input: Four patients with PNH-associated marrow aplasia were transplanted with marrow from their HLA-matched, MLR-nonreactive siblings.

MLR

aplasia


Input: The expression of the chondroitin sulfate proteoglycan neuron-glial antigen 2 (NG2) has been demonstrated in association with rearrangement of the mixed lineage leukemia (MLL) gene in acute leukemia, but the frequency of NG2 expression in adult acute lymphoblastic leukemia (ALL) is yet unknown.

acute leukemia


Input: Pre-treatment of glioblastoma cell lines with GDNF but not the alternative ligand neurturin, promoted mitogenic behaviour and conferred chemoresistance to 1, 3-bis (2-chloroethyl)-1-nitrosourea (BCNU).

GDNF

glioblastoma

GDNF

glioblastoma


Input: Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder.

alpha gene

obsessive-compulsive disorder


Input: BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

BMPER

diaphanospondylodysostosis

BMPER

diaphanospondylodysostosis


Input: These data suggest that hypoxia increases AP-1 binding activity by enhancing Ca2 + influx via La3 +-sensitive TRP-encoded SOC channels in hPAEC.

hypoxia


Input: A better understanding of early onset MEN 1 disease is needed to formulate recommendations for early MEN 1 genetic testing.

MEN 1

MEN 1

MEN 1

MEN 1


Input: Targeting Wnt5a in the skin may reduce IFN hypersensitivity and be of therapeutical value.

hypersensitivity


Input: The SP1/SP3 and hypoxia-response element in the CA9 promoter thus may represent a novel type of enhancer capable of mounting responses to a wider range of hypoxic conditions.

hypoxic


Input: Association of a microRNA/TP53 feedback circuitry with pathogenesis and outcome of B-cell chronic lymphocytic leukemia.

B-cell chronic lymphocytic leukemia

B-cell chronic lymphocytic leukemia


Input: Collectively, we describe a C5a-dependent induction of apoptotic events in cells of adrenal medulla in vivo and pheochromocytoma PC12 cells in vitro.

pheochromocytoma


Input: The novel aim of this study was to elucidate the critical role of GAPDH and its interaction with β-amyloid in the blood of Moroccan patients with familial AD (FAD) carrying presenilin mutations and in sporadic late onset AD (LOAD).

FAD

sporadic


Input: Despite comparable insulin resistance, fasting lipids, adipokines and dietary habits, MTP GG genotype had significantly more severe beta-cell dysfunction; higher plasma Tg, FFA, intestinal and hepatic very low-density lipoprotein 1 subfractions and oxLDL responses and deeper HDL-C fall than GT/TT carriers in patients and controls.

MTP

insulin resistance


Input: A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Transforming growth factor-beta1 (TGF-beta1) plays a critical role in promoting extracellular matrix (ECM) deposition and fibrosis.

ECM

fibrosis


Input: Ten patients had sensorineural hearing loss (38%), two patients had conductive hearing loss (7. 7%), one patient had a mixed hearing loss (3. 8%), and two patients had an as yet undefined hearing loss (ABR had not yet been performed at the time of this study) (7. 7%).

ABR

mixed hearing loss


Input: In conclusion, we have found significant association between the Gly482Ser variant of the PGC-1alpha gene and reduced insulin sensitivity in obese subjects.

insulin sensitivity


Input: Not only did expression of CLDN1 decrease significantly in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of wild-type APC into the APC-deficient colon cancer cells, but also two putative Tcf4 binding elements in the 5' flanking region of CLDN1 were confirmed to be responsible for activating its transcription.

adenovirus


Input: We observed that, in contrast to E2F1 and E2F3, which sensitize to death, E2F4 plays a crucial protective role in neuronal death evoked by DNA damage, hypoxia, and global ischemic insult both in vitro and in vivo.

hypoxia


Input: The ACT allelic distribution was also similar for familial and sporadic PD, for female and male patients, and for the different clinical subtypes of PD.

ACT

sporadic


Input: Mutations in the retinal-expressed gene CRX (cone-rod homeobox gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital amaurosis.

cone-rod homeobox

cone-rod dystrophy

cone-rod homeobox

cone-rod dystrophy


Input: Wild type carriers of PPARG Pro12Ala (p < 0. 05), homozygous carriers of the variant allele of ADIPOQ G276T (p < 0. 001) and epsilon4 carriers of APOE (p < 0. 001) had higher total and low density lipoprotein (LDL)-cholesterol levels adjusted for age, gender, BMI and insulin sensitivity.

APOE

insulin sensitivity


Input: The aim of this study was to examine whether the NTRK2 and BDNF polymorphisms impact brain white matter connections in major depressive disorder and whether they may also have an interactive effect with environmental stress in the form of early life adversity.

major depressive disorder

major depressive disorder


Input: FIP1L1-PDGFRA-associated MPN, a subtype of myeloid and lymphoid neoplasm, is characterized by eosinophilia and abnormalities in the PDGFRA, PDGFRB or FGFR1 gene.

PDGFRA

abnormalities


Input: Thirteen of 17 elf (+/-) mutant mice developed steatosis, fibrosis, hepatic dysplasia, with HCC in two mice.

HCC

fibrosis


Input: All of the patients were treated with perindopril (4 mg/day) and, after one and six months of therapy, their levels of plasma fibrinogen (Fb), t-PA antigen, PAI-1 antigen, von Willebrand factor (vWF), ACE activity and blood pressure were measured.

von Willebrand factor

blood pressure


Input: In Trypanosoma evansi infections changes in the haemogram are commonly observed, and the enzyme adenosine deaminase (ADA) plays an important role in the production and differentiation of blood cells.

ADA

infections


Input: Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Bruck syndrome

Bruck syndrome


Input: The exon 3-deleted patients required approximately 20% lower doses of pegvisomant per kilogram of weight (28 +/-11 compared to 22 +/-7 mg per kg of weight; P = 0. 033) to normalize IGF-I.

IGF-I

weight


Input: Therefore, it is of clinical interest to investigate whether AS against Glut5 mRNA can tackle breast cancer.

breast cancer

breast cancer


Input: Finally, the expression of colon cancer-derived beta-globin mRNA was detectable 24 h after intravenous injection, but only in samples obtained from the HT-29DEX-, but not in those from the HT-29-inoculated mice.

beta-globin

colon cancer


Input: Furthermore, there were no chi, chi-like, topoisomerase II, or translin consensus sequences in the introns harboring the translocation breakpoints, nor could the number of topo I sites in EWS, RBP56, and CHN introns explain the uneven distribution of the breakpoints among EWS or CHN introns.

EWS

translocation


Input: This analysis supports a dominant-negative mechanism for GS variants in ITPR1.

GS

GS


Input: CSE1L, DIDO1 and RBM39 in colorectal adenoma to carcinoma progression.

carcinoma


Input: Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition.

IVIC syndrome

IVIC syndrome


Input: In addition to sporadic forms of AD, familial forms (FAD) have been recognized.

FAD

sporadic


Input: The association with the HLA-DRB1 gene is the best understood, although several non-HLA loci have been linked to RA, including the 18q21 region of the TNFRSR11A gene, which encodes the receptor activator of nuclear factor kappaB, important in bone resorption in RA.

HLA-DRB1 gene

bone resorption


Input: Weak association of the platelet-derived growth factor beta (PDGFB) and PDGF receptor beta (PDGFRB) genes with schizophrenia and schizoaffective disorder.

PDGFB

schizoaffective disorder


Input: This case-control study was designed to investigate the association of alpha1-antichymotrypsin gene (ACT) polymorphism between 210 Taiwanese patients with clinical definite sporadic PD and 260 controls, matched by age and sex.

ACT

sporadic


Input: To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67).

sporadic


Input: In the border zone and scar region of infarcted myocardium, and in hypoxic neonatal cardiomyocytes, the selective degradation of PLC-delta1 by the calcium sensitive proteases may play important roles in intracellular Ca2 + regulations under the ischemic conditions.

PLC

scar


Input: The presence of mutations in this racial population suggests worldwide, common involvement of the SQSTM1 gene in ALS.

ALS

ALS


Input: Genetic mappings uncovered numerous shared genes among substance use, stress response, obesity and hemodynamic traits, including CAMK4, CNTN4, DLG2, FHIT, GRID2, ITPR2, NOVA1 and PRKCE, forming network of interacting proteins, sharing synaptic function and display higher and patterned expression profiles in brain-related tissues; moreover, pathway analysis of shared genes pointed to long-term potentiation.

obesity


Input: New studies have revealed an essential role for TRPA1, a sensory neuronal TRP ion channel, in airway chemosensation and inflammation.

TRP

inflammation


Input: Of 40 cases of hairy cell leukemia, 38 had mutated IGHV and/or IGK/LV, with variations in 13/13 cloned cases, while two had 100% unmutated IGHV and IGK/LV.

IGK

hairy cell leukemia


Input: The purpose of this study was to evaluate single-nucleotide polymorphisms (SNPs) of the RANKL, RANK, and OPG genes in premenopausal SLE patients and their association with sRANKL and OPG serum levels, vertebral fractures, and bone mineral density (BMD).

RANKL

bone mineral density


Input: TRMT12 is a homologue of a yeast gene encoding a tRNA methyltransferase involved in the posttranscriptional modification of tRNA (Phe), and exploring the biological consequence of its altered expression, may reveal novel pathways in tumorigenesis.

tumorigenesis


Input: A significant positive correlation between the serum non-ceruloplasmin copper and lipid peroxidation products and negative correlation with antioxidants were observed in hepatocellular carcinoma patients.

ceruloplasmin

hepatocellular carcinoma

ceruloplasmin

hepatocellular carcinoma


Input: In the present study, we investigated the baseline activity of the PI3K/Akt/mTOR pathway TORC1/2 in MM cell lines with different genetic abnormalities.

abnormalities


Input: To examine the associations of functional GSTM3 gene polymorphisms (Val224Ile and insdelAGG), their haplotypes and, in combination with GSTT1-null and GSTM1-null polymorphisms, with bone mineral density (BMD) measured at femoral neck (_fn), lumbar spine (_ls) and total hip (_th) and biochemical bone turnover markers in 593 Slovenian elderly women and 119 Slovenian elderly men.

bone mineral density


Input: LIT1 and H19 methylation defects in isolated hemihyperplasia.

hemihyperplasia

hemihyperplasia


Input: The increase of PTPα catalytic activity requires its phosphorylation at Ser180 and/or Ser204 and its dissociation from PTPα/Grb2 complex.

dissociation


Input: The most remarkable risk was seen for the small cell carcinoma among subjects with the GSTP1 * B/* B genotype and concurrent lack of the GSTM1 gene (OR = 6. 9, 95% CI 1. 6-30. 2).

small cell carcinoma


Input: Sandhoff disease is caused by abnormalities in HEXB gene encoding the beta-subunit of beta-hexosaminidase.

HEXB gene

abnormalities


Input: Hepatic PGC-1beta overexpression caused combined hyperlipidemia independent of SREBP-1c activation.

PGC

hyperlipidemia


Input: BACKGROUND: Substance P (SP) is a pleiotropic cytokine/neuropeptide that enhances breast cancer (BC) aggressiveness by transactivating tyrosine kinase receptors like EGFR and HER2.

aggressiveness


Input: Hereditary cerebral hemorrhage with amyloidosis-Dutch type is an autosomal dominant hereditary disease caused by a point mutation in the amyloid precursor protein gene on chromosome 21.

amyloid precursor protein

Hereditary cerebral hemorrhage with amyloidosis-Dutch type

amyloid precursor protein

Hereditary cerebral hemorrhage with amyloidosis-Dutch type


Input: There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life.

MRI

epilepsy


Input: Hypoxia induced aggressiveness of prostate cancer cells is linked with deregulated expression of VEGF, IL-6 and miRNAs that are attenuated by CDF.

aggressiveness


Input: The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.

ESCS

ESCS


Input: Allelic variant frequency of the identified IGF1 polymorphisms was assessed in a total of 145 SGA children and in 180 controls born with adequate weight and length and adult height sd score greater than-2.

weight


Input: We used transgenic mice that overexpressed a constitutively activated form of YAP (YAP (S127A)), and measured protein levels in HCC, colorectal and pancreatic tumor samples from patients.

HCC

pancreatic tumor


Input: Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.

Meier-Gorlin syndrome

Meier-Gorlin syndrome


Input: Mutations in the human cardiac troponin T gene (TNNT2) are associated with familial hypertrophic cardiomyopathy (FHC) linked to chromosome 1q3 (CMH2).

T gene

familial hypertrophic cardiomyopathy


Input: Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption.

TCIRG1 gene

bone resorption


Input: Congenital aniridia is due to deletions and point mutations in the PAX6 gene.

Congenital aniridia

Congenital aniridia


Input: Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11. 2 region.

chromosome deletion


Input: Phosphodiesterase-4 (PDE4), an enzyme that catalyzes the hydrolysis of cyclic AMP and plays a critical role in controlling its intracellular concentration, has been implicated in depression-and anxiety-like behaviors.

AMP

depression

AMP

depression


Input: We evaluated the GFI1B expression in erythroleukaemia and megakaryocytic leukaemia, as well as in patients with other subtypes of acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL), chronic myeloid leukaemia (CML), myelodysplastic syndrome (MDS), severe aplastic anaemia (SAA), myelofibrosis with myeloid metaplasia (MMM) and in healthy volunteers.

SAA

aplastic anaemia


Input: In 8-Br-cAMP-treated hESF from eutopic endometrium of women with endometriosis, the balance in estradiol (E2) and P4 biosynthetic and metabolizing enzymes is disturbed (decreased HSD3B1 and HSD17B2, and increased HSD17B1 and aromatase), with the equilibrium being shifted towards an E2-enriched milieu.

endometriosis

endometriosis


Input: The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls.

BDNF

CCHS

BDNF

CCHS


Input: Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.

prostate cancer

prostate cancer


Input: In age-and gender-adjusted regression models, MMP-9 concentrations were positively associated with the homeostasis model assessment of insulin resistance (HOMA-IR) index and triglyceride concentrations, fasting serum insulin, fasting plasma glucose, C-reactive protein, fibrinogen, and serum amyloid A.

C-reactive protein

insulin resistance


Input: Current concepts of the immunopathogenesis of sarcoidosis favor a central role of activated, interleukin-2 (IL-2) producing helper T-cells at sites of inflammation.

inflammation


Input: Five polymorphisms forming two haplotype blocks within the GTP cyclohydrolase 1 gene, encoding a rate limiting enzyme in tetrahydrobiopterin synthesis, were studied in the context of flow and nitroglycerin mediated dilation (FMD and NMD), intima-media thickness (IMT), and plasma concentrations of von Willebrand factor (vWF) and malondialdehyde (MDA).

GTP cyclohydrolase 1

dilation


Input: The results of our study unravel the significance of Wnt/Ca2 + signaling in cervical cancer.

cervical cancer


Input: CDNA expression array analysis revealed increased manganese superoxide dismutase (SOD-2) expression in the mac25/IGFBP-rP1-transfected M12 human prostate cancer cell line compared to M12 control cells.

prostate cancer

prostate cancer


Input: Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.

follitropin receptor

ovarian hyperstimulation syndrome

follitropin receptor

ovarian hyperstimulation syndrome


Input: We evaluated a strategy for anti-TGF-beta gene therapy for hepatic fibrosis by transfecting plasmids expressing an entire extracellular domain of human TGF-beta type II [soluble type II TGF-beta receptor (sTGF-betaIIR)] into skeletal muscle in a rat experimental model of dimethylnitrosamine-(DMN-) induced fibrosis.

DMN

fibrosis


Input: Subsequent real-time PCR assays confirmed 16 of these targets, and 9 of these genes (ARHGAP29, CDC25A, CDKN2AIP, CX3CL1, ELF4, GNAL, KDELR1, POU4F2, and THRA) have a known role in tumorigenesis.

tumorigenesis


Input: EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.

vascular endothelial growth factor receptor-2

major depression

vascular endothelial growth factor receptor-2

major depression


Input: Collectively, these observations argue that ADI1 may check prostate cancer progression through apoptosis and that this activity does not require metal binding.

prostate cancer

prostate cancer


Input: In contrast, the metabolic benefit of STS in males may have been accounted for by the male-specific decrease of inflammation in white adipose tissue and skeletal muscle as well as a pattern of skeletal muscle gene expression that favors energy expenditure.

STS

inflammation

STS

inflammation


Input: p42. 3 gene expression in gastric cancer cell and its protein regulatory network analysis.

p42. 3

gastric cancer


Input: Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.

Juvenile polyposis of infancy

Juvenile polyposis of infancy


Input: The GRL locus does not appear to be a major locus for obesity, but we cannot exclude that this gene or gene located nearby may have some minor effects on the obese phenotype or may be involved in some subtypes of obesity.

GRL

obesity


Input: Sixty consecutive non-smoking patients (aged 46. 77 +/-4. 96 years) with moderate to severe chronic periodontitis (CP) were treated with scaling and root planing (SRP).

SRP

smoking


Input: We have previously shown that the replication and cytopathogenicity of an E1B, 55-kDa gene-attenuated adenovirus, ONYX-015, is blocked by functional p53 in RKO and U20S carcinoma lines.

carcinoma


Input: These results suggest that TAC1, PENK and SOCS2 might be intimately connected with the excessive daytime sleepiness not only in dogs, but also in other species, possibly including humans.

PENK

excessive daytime sleepiness


Input: Family history of ESRD is common in older Americans and the increased risk of ESRD associated with a family history reflects lower GFR, higher albuminuria, and comorbid conditions.

GFR

albuminuria


Input: The morphological features of tumours from patients harbouring mutations in the BRCA1 and BRCA2 genes differ from each other and from sporadic breast cancers.

BRCA2 genes

sporadic


Input: Moreover, silencing of CUX1 in fibroblasts from kidneys of patients with renal fibrosis resulted in increased type I collagen expression.

renal fibrosis


Input: SMAC knockdown led to impaired caspase activation, mitochondrial membrane depolarization, and release of cytochrome c. A small molecule Smac mimetic, at nanomolar concentrations, significantly sensitized HNSCC cells to gemcitabine-induced apoptosis and restored gemcitabine sensitivity in SMAC knockdown cells, through caspase activation, X-linked IAP dissociation, and mitochondria-associated events, but not the TNF-α pathway.

SMAC

dissociation


Input: We evaluated the relationship between mRNA gene expressions of TMPRSS4, ECM1 and VDR in 21 papillary thyroid carcinoma samples and compared it to 21 normal thyroid tissues from the same patients.

papillary thyroid carcinoma


Input: We investigated the association of FLG mutations with self-reported food allergy, symptoms of oral allergy syndrome (OAS), and alcohol sensitivity.

FLG

food allergy


Input: Dysbindin-1, a schizophrenia-related protein, interacts with HDAC3.

schizophrenia

schizophrenia


Input: Individuals with the BCHE UF phenotype (N = 45) showed a significantly higher mean stature (about 3 cm more; P = 0. 02) than their controls with the usual phenotype (N = 135).

BCHE

stature


Input: Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.

ASD

ASD


Input: Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.

ovarian cancer

ovarian cancer


Input: DYNACTIN-2 (DCTN2) localises to chromosome 12q13-q15, a region prone to stable amplification in several cancers.

cancers


Input: In addition, the evaluation of IGF-1 and IGF-1rec immunoreactivity might have clinical implications, because it positively correlates with the aggressiveness of these tumors.

IGF

aggressiveness


Input: Unlike other DNA repair defects that affect humans, PNKP mutations universally cause severe seizures.

PNKP

seizures

PNKP

seizures


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

glioblastoma multiforme

glioblastoma multiforme


Input: Because DGAT1 expression is up-regulated during adipocyte differentiation and DGAT1 deficiency is associated with leanness in mice, we hypothesized that alterations in DGAT1 expression may affect human body weight.

body weight


Input: We examined CD4 + and CD8 + subgroups of T cells in the peripheral blood (PBL), benign gastric mucosa, and tumor (TIL) lymphocytes of 12 patients with primary gastric carcinomas of both intestinal and diffuse types.

carcinomas


Input: They were matched and randomly assigned into four groups: type II diabetic patients with no sign of CAD (T2DM), type II diabetic patients with CAD/ND (T2DM/CAD), CAD patients with no sign of diabetes (CAD/ND), and healthy individuals (NCAD/ND).

NCAD

diabetes


Input: We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds.

amphiregulin

EPP

amphiregulin

EPP


Input: Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: In this report, we showed that the expression of Janus-activated kinase 2 (JAK2), a Stat3 activator, was increased, whereas the expression of a negative regulator of Stat3, suppressor of cytokine signaling-1 (SOCS-1), was reduced in the brain metastatic melanoma cell line A375Br, relative to that in the parental A375P cell line.

metastatic melanoma


Input: Stress and heat shock proteins such as HSP90, HSP70 and HSP27 are induced in response to a wide variety of physiological environmental insults including heat, reactive oxygen species or anticancer drugs.

shock


Input: Previous studies have indicated that the hyperlipidemia and gene expression changes induced by a short-term high-fat diet (HFD) are mediated through the peroxisome proliferator-activated receptor gamma coactivator (PGC)-1beta, and that in vitro both PGC-1beta and PGC-1alpha increase PPARalpha-mediated transcriptional activities.

PGC

hyperlipidemia


Input: To understand the role of sporadic mutations in the tumor suppressor gene p53 (also known as TP53) in the pathogenesis of breast cancer, it is important to identify at which histologic stage such mutations first occur.

sporadic


Input: Since epidemiologic studies closely link prolactin and the development of ERα + tumors in women, we examined characteristics of the aggressive ERα + and ERα-carcinomas which develop in response to mammary prolactin in a murine transgenic model (neu-related lipocalin-prolactin (NRL-PRL)).

NRL

carcinomas


Input: Primary ALS deficiency due to IGFALS mutations should be considered as a possible cause of postnatal growth deficit in IGF-I-deficient patients in the absence of GH deficiency or insensitivity.

IGFALS

ALS deficiency

IGFALS

ALS deficiency


Input: Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of PMAH.

PMAH

PMAH


Input: We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nucleotide sequencing of the ARSA gene to detect rare or private mutations.

ARSA

MLD

ARSA

MLD


Input: A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: In the present study, 54 patients presented liver mild fibrosis, 68 had severe fibrosis and 51 patients had HCC.

HCC

fibrosis


Input: HIF-1alpha was not expressed in benign breast tissue, whereas it was significantly expressed in DH, ADH, DCIS, and IDC (p & lt; 0. 001).

DCIS

DCIS


Input: RNA interference and TRAIL receptor blockage experiments revealed that in bortezomib-treated hepatoma cells TRAIL-R1/TRAIL-R2 up-regulation, enhanced TRAIL DISC formation and cFLIPL down-regulation in addition to accumulation of Bak cooperatively sensitized for TRAIL.

TRAIL

hepatoma

TRAIL

hepatoma


Input: A total 90 patients (67 HCC, 9 cirrhosis and 14 chronic hepatitis) were enrolled in the study.

HCC

chronic hepatitis


Input: In contrast, several population doublings after exposure to a low dose of only 0. 5 Gy chromosomal instability, manifested as gross chromosomal rearrangements and aneuploidy, had developed in BRCA2-deficient FA fibroblasts and in some-but not all-BRCA heterozygous fibroblasts.

chromosomal instability


Input: We found that the disruption of one allele of Smyd4 (SET and MYND domain containing 4) gene through chromosome translocation led to tumorigenesis.

SET and MYND domain containing 4

chromosome translocation


Input: We conducted a case-control study with 183 silicosis patients and 111 silica-exposed miners, and a 1: 2 matched case-control study of 61 PTB cases and 122 PTB-free miners.

PTB

silicosis


Input: APPcc overexpression in CA1 and not in the dentate gyrus induced endogenous SET translocation and tau hyperphosphorylation.

translocation


Input: FNDC3B was also associated with primary open-angle glaucoma (P = 5. 6 & #215; 10 (-4); tested in 3 cohorts with 2, 979 cases and 7, 399 controls).

primary open-angle glaucoma

primary open-angle glaucoma


Input: Isolated BMACs from TSP-1-knockout mice demonstrated improved tube formation, migration, and adhesion in parallel with active SHH signaling.

SHH

adhesion


Input: Treatment of GSC-derived mouse intracranial tumors reduced tumor sizes in vivo without a noticeable cell death in normal brains.

GSC

intracranial tumors


Input: Patients with lung cancer (n = 263) were studied to determine the relationship among ectopic production of atrial natriuretic factors (ANF) and arginine vasopressin (AVP), serum sodium, and patient outcome.

ANF

lung cancer


Input: The study also suggests TP53 as a potential molecular marker and prognostic tool, at least in a subset of sporadic breast tumors.

sporadic


Input: Treatment significantly improved the clonogenic potential of bone marrow erythroid, myeloid, megakaryocytic colony-forming cells and increased the proportion of CD34 (+) cells expressing the adhesion molecules CD11a, CD49d, CD54, CXCR4 and the SLAM antigen CD48.

adhesion


Input: Immunohistologic detection of nm23-H1 protein in squamous cell carcinoma of the vulva.

squamous cell carcinoma of the vulva


Input: This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR) signalling pathways via p53, the protein Regulated in the Development and DNA damage response 1 (Redd1) and the tuberous sclerosis complex (TSC2) factors in two beta-amyloid peptide (Abeta) neurotoxicity models.

amyloid


Input: We investigated a common signal peptide polymorphism in the alpha 1-antichymotrypsin (ACT) gene in 125 sporadic Alzheimer disease (AD) patients and 141 healthy control subjects in Chinese Han population.

ACT

sporadic


Input: sRAGE (assessed by ELISA) was significantly higher in DN than normoalbuminuria subjects (P = 0. 007) and positively correlated with age, S-urea, S-creatinine and albuminuria and AGEs (determined spectrofluorimetrically), negatively with GFR (all P < 0. 05); however, multivariate regression revealed that GFR was the only independent variable associated with sRAGE (P = 0. 047).

GFR

albuminuria


Input: The GSTA1 homozygous wild-type genotype was significantly more often present in patients with gastric cancer compared with controls (odds ratio 4. 3, 95% CI 1. 2-17), which was even more apparent after adjustment for age, gender, current smoking, current alcohol consumption, and polymorphisms in GSTP1, GSTT1, or GSTM1 (odds ratio 5. 0, 95% CI 1. 2-25).

alcohol consumption


Input: A 1: 2 case control study of 61 male workers with PTB (50 silicosis patients and 11 unsilicosis workers) as the case group and 122 male PTB-free workers (100 silicosis patients and 22 unsilicosis workers) as the control group was conducted with the frequency matched for age of +/-5 years, the job, the silica exposure, and the condition of cigarette smoking and alcohol drinking.

PTB

silicosis


Input: In a patient hypophysectomized because of a pituitary tumor, who, despite undetectable serum gonadotropin levels, had normal testis volume and semen parameters and fathered three children under testosterone substitution alone, we hypothesized an activating mutation of the FSH receptor.

FSH receptor

pituitary tumor


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

depression

depression


Input: Mean BDNF concentration was decreased in CRS compared with controls, with the most significant decrease in patients with polyps (p < 0. 05).

BDNF

polyps


Input: The cytogenetic hallmark is the translocation t (12; 22) (q13; q12) resulting in a chimeric EWS/ATF1 gene in which the 3'-terminal part of EWS at 22q is replaced by the 3'-terminal part of ATF1 at 12q.

EWS

translocation


Input: Erythropoietin protects against doxorubicin-induced cardiomyopathy via a phosphatidylinositol 3-kinase-dependent pathway.

Erythropoietin

cardiomyopathy

Erythropoietin

cardiomyopathy


Input: Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

rippling muscle disease

rippling muscle disease


Input: However, somatic mutations in BRCA1 and BRCA2 in sporadic breast and ovarian tumors are rare, even though loss of heterozygosity in BRCA1 and BRCA2 loci in these tumors appears frequently.

sporadic


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

SLE

SLE


Input: BAP1 deficiency was the only significant independent prognostic predictor for patients with polyploid tumors, with a 16-fold increased hazard ratio (HR 15. 90, P = 0. 009).

polyploid


Input: Of interest, CD2 coexpression in acute myelomonocytic leukemia with eosinophilia (M4-Eo) was exclusively associated with inversion of chromosome 16 (inv 16) and was not observed in the other M4-Eo' s without inv16.

acute myelomonocytic leukemia


Input: Heterogenous fusion transcripts involving the NUP98 gene and HOXD13 gene activation in a case of acute myeloid leukemia with the t (2; 11) (q31; p15) translocation.

NUP98 gene

translocation


Input: Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q.

SKY

partial trisomy


Input: Methylation status by using methylation-specific polymerase chain reaction (MS-PCR) and protein expression by using immunohistochemistry for p16 INK4A and MGMT genes were performed in cervical squamous intraepithelial neoplasms (CIN), invasive squamous cell carcinomas (SCC), adenocarcinomas and non-neoplastic cervices.

MGMT

intraepithelial neoplasms


Input: Five additional heterozygous missense variants in KCNK3 were independently identified in 92 unrelated patients with familial pulmonary arterial hypertension and 230 patients with idiopathic pulmonary arterial hypertension.

familial pulmonary arterial hypertension

familial pulmonary arterial hypertension


Input: Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas deferens (CBAVD).

CFTR

CF

CFTR

CF


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

mast cell disease


Input: Upregulation of endothelial chemokine receptors and CXCL8, CCL2, and CCL5 expression by cytotoxic macrophages may regulate myofiber necrosis.

necrosis


Input: We used RNA-seq to investigate samples from individuals diagnosed with small round cell tumors of bone, possibly Ewing sarcoma, but which lacked the canonical EWSR1-ETS translocation.

translocation


Input: We examined 64 tag and functional single-nucleotide polymorphisms (SNPs) in the NER genes ERCC1, ERCC2 (XPD), ERCC3 (XPB), ERCC4 (XPF), ERCC5 (XPG), LIG1, XPA, and XPC in a population-based case-control study in Washington state, with 783 endometrial cancer cases and 795 controls.

endometrial cancer


Input: Our findings suggest that LPL mediates HCV cell entry by a mechanism similar to hepatic clearance of TRL from the circulation, promoting a non-productive virus uptake.

LPL

HCV

LPL

HCV


Input: Various groups have explored the role of the common genetic variation of IDE on insulin resistance and reported associations of various single nucleotide polymorphisms (SNPs) and haplotypes on both type 2 diabetes and glycemic traits.

IDE

insulin resistance


Input: The human TP53 gene is a possible tumor suppressor since TP53 gene mutations are observed in greater than 70% of sporadic colorectal carcinoma DNAs.

TP53 gene

sporadic


Input: We quantified the GIPR and LHCGR expression in a large cohort of 55 patients (25 children and 30 adults) with functioning and non-functioning sporadic adrenocortical tumors.

LHCGR

sporadic


Input: A role for DAZL1 and DAZ in spermatogenesis is supported by their homology to a Drosophila male infertility protein Boule and by sterility of Dazl1 knock-out mice.

DAZ

sterility


Input: Our findings suggest that the GSTP1 polymorphism influences individual susceptibility to breast cancer in the Korean women and this effect may be modified by alcohol consumption.

alcohol consumption


Input: HBx-upregulated lncRNA UCA1 promotes cell growth and tumorigenesis by recruiting EZH2 and repressing p27Kip1/CDK2 signaling.

tumorigenesis


Input: Our present study provided the first line of direct evidence suggesting that the CHRNA4 gene combined with CHRNB2 receptor gene may be linked to schizophrenia.

schizophrenia

schizophrenia


Input: Interestingly, mutations in an inwardly rectifying potassium channel, Kir2. 1, cause a similar constellation of birth defects as in FASD.

Kir2. 1

birth defects


Input: Among the infants born before 32 weeks of gestation and having the SP-B genotype Thr/Thr, the SP-A1 allele 6A (2) was over-represented in RDS group compared with controls (P = 0. 001, OR = 4. 7, CI 1. 8-12. 2).

SP-B

RDS

SP-B

RDS


Input: 20 microgram TRH injected bilaterally into the caudate-putamen, tuberculum olfactorium, nucleus accumbens, amygdala, lateral ventricles, midbrain or cerebral cortex failed to induce any increase in locomotor activity (measured using photocells), although other behavioural changes were observed after each injection, and included body shakes, limb tremor, repetitive head and limb movements, biting, scratching and an alert appearance.

TRH

shakes

TRH

shakes


Input: We suggest a novel link between HD-associated inflammation and p66 (shc) gene expression contributing to systemic oxidative stress.

inflammation


Input: Mutations within HESX1 are a rare cause of SOD and hypopituitarism.

SOD

SOD


Input: Mean protein and mRNA levels of AA-selective cytosolic phospholipase A (2) (cPLA (2)) IVA, secretory sPLA (2) IIA, cyclooxygenase (COX)-2 and membrane prostaglandin E synthase (mPGES) were significantly elevated in the BD cortex.

sPLA (2

BD

sPLA (2

BD


Input: GPR26-deficient mice display increased anxiety-and depression-like behaviors accompanied by reduced phosphorylated cyclic AMP responsive element-binding protein level in central amygdala.

AMP

depression

AMP

depression


Input: Knockdown of LOX led to inhibition of hypoxia-induced invasion and migration.

LOX

hypoxia


Input: Next, we estimated miR-29b and miR-146a, as well as renalase expression, in genetically hypertensive blood pressure high and genetically hypotensive blood pressure low mice.

renalase

blood pressure low


Input: VPS35 mutants showed increased interaction with dynamin-like protein (DLP) 1, which enhanced turnover of the mitochondrial DLP1 complexes via the mitochondria-derived vesicle-dependent trafficking of the complexes to lysosomes for degradation.

DLP

vesicle


Input: Using a yeast two-hybrid screen, we identified a novel transcription complex AR-p44-Smad1, confirmed for physical interaction by co-immunoprecipitaion and functional interaction with luciferase assays in human prostate cancer cells.

prostate cancer


Input: A major structural alteration specifically involving the oligomerization domain of a germline p53 gene has not been previously described and occurs in a region rarely mutated in sporadic tumors.

p53 gene

sporadic


Input: The percentages of CD4 + CD25 + Treg were detected as well as in the blood of carcinoma patients and CIN II/III, but the number of cells was much higher compared to both control and CIN I groups (p < 0. 01).

carcinoma


Input: Our data demonstrated that MALAT1 was involved in cervical cancer cell growth, cell cycle progression, and invasion through the regulation of gene expression, such as caspase-3,-8, Bax, Bcl-2, and BclxL, suggesting that MALAT1 could have important implications in cervical cancer biology.

BclxL

cervical cancer


Input: As we have found that Lyn, but not Fyn, activity promotes migration of glioblastoma cells in response to the cooperative signal generated by platelet-derived growth factor receptor beta and integrin alpha (v) beta3, we compared the activity and expression of Lyn and Fyn in glioblastoma (grade IV) tumor biopsy samples with that in anaplastic astrocytoma (grade III) tumors, nonneoplastic brain, and normal autopsy brain samples.

anaplastic astrocytoma


Input: Using a knock-in mouse model of SCA1 that recapitulates the selective neurodegeneration seen in affected individuals, we found that elevated Atxn1l levels suppress neuropathology by displacing mutant Atxn1 from its native complex with Capicua (CIC).


Input: Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

ectodysplasin-A

hypohidrotic ectodermal dysplasia

ectodysplasin-A

hypohidrotic ectodermal dysplasia


Input: Because huntingtin-interacting protein-1 (HIP1) is known to play a role in tumorigenesis, we tested the involvement of HIP1 in NSCLC progression and metastasis.

tumorigenesis


Input: Parathyroid hormone-related protein varies with sex and androgen status in nonsmall cell lung cancer.

Parathyroid hormone-related protein

nonsmall cell lung cancer

Parathyroid hormone-related protein

nonsmall cell lung cancer


Input: To determine whether HOXD10 is involved in the etiology of idiopathic clubfoot, HOXD10 coding and 5' and 3' untranslated regions were resequenced in 190 patients (177 with clubfoot, 10 with sporadic vertical talus, and 3 with both clubfoot and vertical talus), and 160 ethnically matched control subjects.

sporadic


Input: We asked whether hypokalemia caused downregulation of the tonicity-responsive enhancer binding protein (TonEBP) transcriptional activator in the renal medulla due to the reduced tonicity.

TonEBP

hypokalemia


Input: We propose that IL-1 and the IL-6 family of cytokines regulate YKL-40 expression during sterile inflammation via both STAT3 and RelB/p50 complexes.

RelB

inflammation


Input: Inherited pericentric inversion (X) (p11. 4q11. 2) associated with delayed puberty and obesity in two brothers.

obesity


Input: In children with asthma who were not receiving any controller medications, sputum amphiregulin level was negatively correlated with the provocative concentration of methacholine causing a 20% fall in FEV (1) (r =-0. 398; p = 0. 008).

amphiregulin

fall


Input: Furthermore, rat transplanted with EPCs transfected with TERT showed significantly reduced renal interstitial fibrosis and increased endogenous creatinine clearance rate and peritubular MVD (p < 0. 05).

TERT

renal interstitial fibrosis


Input: The evaluation of CD99 immunoreactivity and EWS/FLI1 translocation by fluorescence in situ hybridization in central PNETs and Ewing' s sarcoma family of tumors.

EWS

translocation


Input: The CHK2 founder mutation was detected in one out of 101 (1%) of the sporadic MM cases, in none of the 16 familial MMs, and in two of the 1024 individuals (0. 2%) from the general population.

sporadic


Input: Moreover, this mouse model is a close reproduction of clinical behavior of ASS in HCC and is useful in testing arginine-depleting agents and for studies of the role of ASS in tumorigenesis.

ASS

tumorigenesis


Input: This converging cross-species evidence implicates ADCY7 in the modulation of mood regulatory neural mechanisms and, possibly, risk for and pathophysiology of depression, together supporting a continuous dimensional approach to major depressive disorder and other affective disorders.

depression

depression


Input: Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations.

Rett syndrome

Rett syndrome


Input: BMP7 has unique developmental and trophic actions on catecholamine neurons and these findings suggest that reduced astrocyte support for pontine LC neurons may contribute to pathology of brain noradrenergic neurons in MDD.

MDD

MDD


Input: The Ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure.

congestive heart failure


Input: Antioxidant 1 (Atox1) is shown to act as a copper-dependent transcription factor, as well as a copper chaperone, for SOD3 in vitro, but its role in Ang II-induced hypertension in vivo is unknown.

hypertension

hypertension


Input: Mutations in nucleotide sequences encoding one of three specific cysteine residues in the extracellular domain of the RET protein were found in 33 of the 34 MEN2A patients and in five of the six FMTC patients examined.

RET

FMTC

RET

FMTC


Input: However, transient perinatal hyperkalemia in infants with ROMK mutations suggests an additional function of ROMK for K secretion in the cortical collecting duct.

ROMK

hyperkalemia


Input: The newborn ovary homeobox gene (NOBOX) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis, thus representing an attractive candidate gene for nonsyndromic ovarian failure.

NOBOX

ovarian failure


Input: Type 1 diabetes is associated with coronary heart disease (CHD) and coronary artery calcification (CAC), a measure of subclinical CHD.

CAC

coronary artery calcification


Input: Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

acquired partial lipodystrophy

acquired partial lipodystrophy


Input: Thus, GFAP-IL6 but not GFAP-TNF mice showed markedly enhanced sensitivity to glutamatergic-but not cholinergic-induced seizures and lethality.

seizures

seizures


Input: Familial Alzheimer' s disease (FAD) mutations in APP cause a disease phenotype that is identical (with the exception that they cause an earlier onset of the disease) to that of' sporadic' AD.

FAD

sporadic


Input: A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

spinocerebellar ataxia type 28

spinocerebellar ataxia type 28


Input: These data suggest that FGF3 haploinsufficiency is likely to be the cause of otodental syndrome.

otodental syndrome

otodental syndrome


Input: Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

spondylometaphyseal dysplasia with cone-rod dystrophy

spondylometaphyseal dysplasia with cone-rod dystrophy


Input: In conclusion, our study does not support the hypothesis that genes coding for CRH or PENK contribute to the genetic susceptibility to bipolar disorder. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96: 178-181, 2000.

CRH

bipolar disorder

CRH

bipolar disorder


Input: The reported patient, in addition to glioma, had suffered from benign meningioma in the past but did not show any clinical signs of Cowden disease or other hereditary diseases typically associated with PTEN germline mutations.

PTEN

benign meningioma

PTEN

benign meningioma


Input: In mice null for the EFNA1 receptor, EphA2, versus control animals, vascular endothelial growth factor receptor blockade and hypoxia caused more severe pulmonary hypertension, judged by elevated right ventricular systolic pressure, right ventricular hypertrophy, and loss of small arteries.

right ventricular hypertrophy


Input: Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.

FAM83H gene

mild


Input: AIM: To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group.

PRRT2 gene

sporadic


Input: Venous blood was obtained from each patient to determine the HAL concentration/dose (C/D) ratio (plasma concentration of HAL divided by the daily dose of HAL per body weight) and for CYP2D6 genotyping.

HAL

body weight


Input: Thus, NAT1 polymorphisms may affect the individual bladder cancer risk by interacting with environmental factors (smoking and occupational risks) and by interacting with the NAT2 gene.

NAT2 gene

smoking


Input: Besides B-cell dominated infiltrates, we observe a hypergammaglobulinemia with immune complex deposits in several tissues, high-titer nuclear autoantibodies and an increased CD4 +/CD8 + ratio.

hypergammaglobulinemia


Input: Employing transgenic adenocarcinoma of mouse prostate (TRAMP) mice, we also demonstrated that oral administration of melatonin, at human-achievable doses, significantly inhibited PCa tumorigenesis as shown by decreases in (i) prostate and genitourinary weight, (ii) serum insulin-like growth factor-1 (IGF-1)/IGF-binding protein-3 (IGFBP3) ratio, (iii) mRNA and protein levels of the proliferation markers (PCNA, Ki-67).

IGF

weight


Input: Conversely, NGF gene transfer ameliorated EC and cardiomyocyte survival, promoted neovascularization and improved myocardial blood flow and cardiac function.

NGF gene

neovascularization


Input: Our results suggest that the mechanism of fibroblastic proliferation observed in this case of myelofibrosis might differ from those reported in other acquired myeloproliferative syndromes and could be associated with an intrinsic abnormality of HOA fibroblast growth.

HOA

myelofibrosis


Input: T-regulatory cells that are CD4 + CD25 + and express forkhead box P3, influence the development and expression of atopy and allergic response.

forkhead box P3

allergic response


Input: In this study, we analyzed sixty-one sporadic meningiomas for LOH of 22q and for mutations in the NF2 gene.

NF2 gene

sporadic


Input: Partial DAZ deletions in a family with five infertile brothers.

DAZ

infertile


Input: In summary, this project provides further clarity concerning the function of Malat1, specifically in breast cancer, while also indicating that the Nischarin expression context is an important factor in the determining how Malat1 activity is governed in breast cancer.

breast cancer

breast cancer


Input: In particular, our highly significant findings regarding the association of rs3758549 reproduce the results of the initial report on transcription factor gene variants, providing further evidence for PITX3 and EN1 polymorphisms as potential genetic risk factors for sporadic PD.

sporadic


Input: Vehicle and untreated NTN exhibited heavy proteinuria and glomerular thrombosis at 24 h with P-selectin and fibrin immunostaining within capillaries, glomerular macrophage and T cell infiltration, activation of JNK and p38 MAPK signalling, and upregulation of glomerular mRNA levels of pro-inflammatory molecules (TNF-α, NOS2, MMP-12 and CCL2).

NTN

heavy proteinuria


Input: Furthermore, reinitiation of cell cycle progression by insulin/insulin-like growth factor I in hydroxytamoxifen-arrested cells involves dissociation of the corepressors nuclear receptor corepressor (N-CoR) and silencing mediator for retinoid and thyroid hormone receptor (SMRT) from nuclear estrogen receptor alpha and redistribution to the cytoplasm, a process that is inhibited by mitogen-activated protein/extracellular signal-regulated kinase, but not phosphatidylinositol 3'-kinase, inhibitors.

insulin-like growth factor I

dissociation


Input: VGF is also downregulated in the cortices from sporadic cases with major mental disease.

VGF

sporadic


Input: These data demonstrate that IFN-gamma suppressed tumor-induced bone loss and hypercalcemia in Tax (+) mice by inhibiting both Tax (+) tumor cell growth and host-induced osteolysis.

IFN

osteolysis


Input: Pericentrin (PCNT) interacts with disruption-in-schizophrenia 1 (DISC1), a known genetic risk factor for schizophrenia, bipolar disorder and major depressive disorder (MDD).

PCNT

schizophrenia 1


Input: While sequencing of a select number of triple negative, basal-like FMAs and testing for loss of heterozygosity of BRCA1 and BRCA2 did not identify mutations similar to those described in human TNBC, further in-depth evaluation is required to elucidate a potential role of BRCA in the tumorigenesis of triple negative, basal-like FMAs.

tumorigenesis


Input: These results suggest that BAFF and its signalling in B cells contribute to B cell abnormalities and the development of skin disease in patients with BD.

BAFF

abnormalities


Input: A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

AIRE

autoimmune polyendocrine syndrome type 1

AIRE

autoimmune polyendocrine syndrome type 1


Input: When CSF cytology specimens were appropriately prepared and had adequate cellularity without dry artifacts, the CSF cytology was suitable to evaluate HER2 status by FISH analysis in patients with LM.

dry


Input: To evaluate the hypothesis that smoking is primarily linked to a specific colon tumor subgroup (s), we assessed associations between smoking and the occurrence of mutations in the APC, K-ras and p53 genes, p53 overexpression, and microsatellite instability (MSI) in a Dutch population-based case-control study on sporadic colon carcinomas.

genes, p53

sporadic


Input: TIMP-1 levels in plasma, CSF, and brain tissue of control, HIV-1 infected patients without cognitive impairment, and HAD patients were also studied.

HAD

cognitive impairment


Input: The adhesion probabilities of this pair of cells were mediated by specific interactions between ICAM-1 and LFA-1.

adhesion


Input: miR-29b is increased in memory CD4 (+) T cells from multiple sclerosis (MS) patients, which may reflect chronic Th1 inflammation.

inflammation


Input: Autoimmune neutropenia, thrombocytopenia and haemolytic anaemia are known as sequelae of B19 infections.

thrombocytopenia


Input: This androgen regulation of clusterin may underline the cytoprotective role of androgens in normal prostate physiology as well as play an antiapoptotic role in prostate cancer progression.

clusterin

prostate cancer

clusterin

prostate cancer


Input: Although 17p LOH is correlated with common p53 gene mutations, inactivating mutations of the BRCA1 gene are uncommon in sporadic ovarian cases.

p53 gene

sporadic


Input: The ALG12 mannosyltransferase defect defines a new type of congenital disorder of glycosylation, designated CDG-Ig.

CDG-Ig

CDG-Ig


Input: Our data show that the pathogenesis of proteinuria in anti-Thy1 glomerulonephritis involves TNF-α and TGF-β/activin pathways, and the evolution of this process can be attenuated by pentoxifylline via downregulation of NF-κB and Smad signals and restoration of the podocyte component of the glomerular filtration barrier.

NF-κB

proteinuria


Input: Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.

Meis 1

breast cancer

Meis 1

breast cancer


Input: However, prognostic significance of tumoral cyclin D1 remains uncertain, and no previous study has considered potential confounding effect of p53, p21, p27, and related molecular events [microsatellite instability (MSI), CpG island methylator phenotype, and LINE-1 hypomethylation].

cyclin D1

microsatellite instability


Input: These findings, combined with those of previous studies, demonstrate an adhesion-mediated NFκB/IL-1/TGF-β1 axis that can be initiated by increased FN in patients with myelofibrosis for the production of SP.

NFκB

adhesion


Input: In this study, we used ex vivo and in vivo approaches to define a mechanotransduction pathway involving Rho/Rho kinase (Rho/ROCK), actin cytoskeletal remodeling, and a mechanosensitive transcription factor, megakaryoblastic leukemia 1 (MKL1), that coordinately regulate myofibroblast differentiation and survival.

Rho kinase

megakaryoblastic leukemia


Input: Functional analysis of the two frequently mutated ADAM genes, ADAM29 and ADAM7 demonstrated that the mutations affect adhesion of melanoma cells to specific extracellular matrix proteins and in some cases increase their migration ability.

melanoma


Input: Although high expression of ZEB1 mRNA is estrogen-dependent in normal human ovarian and endometrial biopsies, high expression is estrogen-independent in late stage ovarian and endometrial carcinomas, raising the possibility that deregulated expression promotes cancer progression.

endometrial carcinomas

endometrial carcinomas


Input: Transcription factor activity was not detected in pulmonary CD4 (+) T lymphocytes from normal controls or from peripheral blood CD4 (+) T lymphocytes from individuals with sarcoidosis, further evidence of compartmentalization of the lymphoproliferative process in this condition.

sarcoidosis


Input: Nevertheless, after the western blot validation only two of the remaining proteins, namely LIM and SH3 domain protein1, and short-chain specific acyl-CoA dehydrogenase mitochondrial protein, resulted in being significantly upregulated in PBD samples suggesting additional mechanisms that could be associated with the psychotic features of bipolar disorder.

short-chain specific acyl-CoA dehydrogenase mitochondrial

bipolar disorder

short-chain specific acyl-CoA dehydrogenase mitochondrial

bipolar disorder


Input: CML66 antibody also was found in sera from 18-38% of patients with lung cancer, melanoma, and prostate cancer.

melanoma


Input: Hepatitis C virus core protein epigenetically silences SFRP1 and enhances HCC aggressiveness by inducing epithelial-mesenchymal transition.

aggressiveness


Input: Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.

esophageal adenocarcinoma


Input: CD8 (+) T cells contribute to central nervous system inflammation in human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP).

tropical spastic paraparesis


Input: Elevated production of TWEAK is correlated positively and significantly with SLEDAI, proteinuria, serum anti-dsDNA, IL-10 and MCP-1, but inversely associated with serum complements.

proteinuria


Input: Obese subjects showed significantly greater levels of systolic blood pressure (SBP) (p < 0. 01), diastolic blood pressure (DBP) (p < 0. 05), plasma insulin (p < 0. 05), and HOMA-IR (p < 0. 05) when compared with normal weight subjects.

DBP

systolic blood pressure


Input: Several of the affected genes were known to be associated with aggressive prostate cancer such as loss of PTEN, CDH1, BCAR1 and gain of MYC.

prostate cancer

prostate cancer


Input: Recent studies on the liver X receptor-alpha (LXR-alpha) have recognized its crucial protective role in the initiation of a cross-talk between lipid metabolism and inflammation regarded as a prerequisite for the development of atherosclerotic lesions.

liver X receptor-alpha

inflammation


Input: RT-PCR analyses also demonstrated elevated constitutive aryl hydrocarbon receptor nuclear translocator mRNA content (an approximately two-fold increase) in skin tumors.

aryl hydrocarbon receptor nuclear translocator

skin tumors


Input: A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever.

MEFV gene

episodic fever


Input: Lower expression of nuclear ING5 was detected in gastric dysplasia and carcinoma than that in nonneoplastic mucosa (P <. 05).

gastric dysplasia


Input: The aim of this study was to investigate the expressions of Toll-like receptor (TLR) 2, TLR4, TLR9, and their correlations with the expression of cytokines that are associated with activation of CD4 (+) T cells and inflammation including interferon gamma (IFNgamma), interleukin 4 (IL4), interleukin 17 (IL17), and tumor necrosis factor alpha (TNFalpha) in muscle tissues of patients with dermatomyositis (DM) and polymyositis (PM).

inflammation


Input: We also show that geranylgeranylpyrophosphate (GGPP), but not farnesylpyrophosphate, induces CTGF promoter activity following simvastatin inhibition by 55. 3 and 31. 1% over GGPP-negative cultures in IMR90 and IPF-derived fibroblasts, respectively, implicating small GTPase Rho involvement rather than Ras in these effects.

CTGF

IPF

CTGF

IPF


Input: To identify the autoantigen recognized by the autoantibody that is associated with clinically amyopathic dermatomyositis (C-ADM) and rapidly progressive interstitial lung disease (ILD).

ADM

rapidly progressive


Input: Molecular genetic analysis of a de novo balanced translocation t (6; 17) (p21. 31; q11. 2) associated with hypospadias and anorectal malformation.

hypospadias


Input: Together, our results reveal a Sin1-phosphorylation-dependent mTORC2 regulation, providing a potential molecular mechanism by which mutations in the mTORC1-S6K-Sin1 signalling axis might cause aberrant hyper-activation of the mTORC2-Akt pathway, which facilitates tumorigenesis.

tumorigenesis


Input: The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis.

MRI

epilepsy


Input: Peroxisome proliferator-activated receptor alpha (PPAR & #945;) has been implicated in the pathogenesis of cardiac hypertrophy, although its mechanism of action remains largely unknown.

Peroxisome proliferator-activated receptor alpha

cardiac hypertrophy

Peroxisome proliferator-activated receptor alpha

cardiac hypertrophy


Input: Furthermore, melanoma B16F0 cells injected into the retro-orbital sinus also metastasized less efficiently in mice expressing ANGPTL4.

metastasized

metastasized


Input: Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal.

sex reversal


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.

hemolysis


Input: Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor.

orphan G protein-coupled receptor

bipolar affective disorder

orphan G protein-coupled receptor

bipolar affective disorder


Input: Evaluation of additional FCCX families for mutations in RPS20 and other ribosome-associated genes is warranted.

FCCX

FCCX