Input: An important element of the mammalian innate defense system against invasive bacterial infections such as GAS is the production of antimicrobial peptides (AMPs) such as cathelicidins.

GAS

bacterial infections


Input: The IL1B TT haplotype (3962T and-511T) was also associated with atopy and moderate-persistent asthma.

atopy


Input: Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.

Caspase 10

autoimmune lymphoproliferative syndrome type II

Caspase 10

autoimmune lymphoproliferative syndrome type II


Input: The ORC5L gene encoding a subunit of the human origin recognition complex (ORC) maps to chromosome band 7q22, a region frequently deleted in adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

adult acute myeloid leukemia


Input: In summary, our findings provide additional insights into the role of NF-kappaB transcriptional regulation in hippocampus following status epilepticus and suggest that NF-kappaB pathway activation contributes to seizure susceptibility.

NF-kappaB

status epilepticus


Input: Production of heat shock protein 70 (HSP70/HSPA) is induced by a wide range of cellular stress conditions, such as cancer and hypoxia, with production also being linked to tumourigenesis.

hypoxia


Input: Our results indicate that the ARF-MDM-2-p53 apoptotic pathway is disrupted in about 55% of the cases of childhood sporadic BL.

sporadic


Input: Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia.

MIM

craniosynostosis


Input: We sought to elucidate the role of genetic variability in the gene encoding the p22 (phox) subunit of the NADPH oxidase (CYBA, 16q24. 3) in asthma susceptibility by means of an association study of haplotypes based on 3 common single nucleotide polymorphisms (SNPs),-930A/G, 242C/T (H72Y) and 640A/G.

asthma susceptibility


Input: We find that all of the detrimental phenotypes observed in Akita diabetes are enhanced by lack of both B1R and B2R, including urinary albumin excretion, glomerulosclerosis, glomerular basement membrane thickening, mitochondrial DNA deletions, reduction of nerve conduction velocities and of heat sensation, and bone mineral loss.

diabetes


Input: The analysis of CIS, SOCS1, SOSC2 and SOCS3 transcript levels in peripheral blood mononuclear cells of systemic lupus erythematosus and rheumatoid arthritis patients.

arthritis


Input: Update on SLC26A3 mutations in congenital chloride diarrhea.

congenital chloride diarrhea

congenital chloride diarrhea


Input: One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy.

monosomy


Input: Controlling for age, sex, education, smoking, body mass index, and antioxidant treatment, the number of minor (T) alleles of the genes LIPC and ABCA1 were significantly associated with a reduced risk of intermediate drusen (LIPC [P trend = 0. 045], ABCA1 [P = 4. 4 × 10 (-3)]), large drusen (LIPC [P = 0. 041], ABCA1 [P = 7. 7 × 10 (-4)]), and advanced AMD (LIPC [P = 1. 8 × 10 (-3)], ABCA1 [P = 3 × 10 (-4)]).

LIPC

smoking


Input: We screened five Korean familial gastric cancer patients to investigate germline mutations of the E-cadherin gene.

E-cadherin

familial gastric cancer

E-cadherin

familial gastric cancer


Input: Circulating levels of interleukin-6 (IL-6), soluble IL-6 receptor (sIL-6R), tumor necrosis factor-alpha-receptor (TNF-RII), and soluble intercellular adhesion molecule (sICAM) did not differ between those with and without depression.

tumor necrosis factor-alpha-receptor

depression

tumor necrosis factor-alpha-receptor

depression


Input: Cumulatively, the data suggest that epigenetic variation at SKA2 mediates vulnerability to suicidal behaviors and PTSD through dysregulation of the HPA axis in response to stress.

HPA

suicidal


Input: Thirty-three patients (18. 9%) had multiple PGLs and 11 patients (6. 3%) had a malignant paraganglioma.

PGLs

malignant paraganglioma


Input: Preferential V beta3 usage by hepatic T lymphocytes in patients with primary sclerosing cholangitis.

primary sclerosing cholangitis


Input: Acute liver failure (ALF) is defined as severe and sudden liver dysfunction leading to coagulopathy and encephalopathy in a previously healthy person without preexisting liver disease.

ALF

liver dysfunction


Input: During the period of observation, 8% (4/48) of B19-seronegative patients seroconverted and infection triggered profound anemia and thrombocytopenia.

thrombocytopenia


Input: In the present study we have analysed the association between the Gly482Ser missense mutation of the PGC-1alpha gene and insulin sensitivity and glucose tolerance in a population of obese non-diabetic subjects.

insulin sensitivity


Input: The BCL3 gene was initially discovered through its involvement in a recurring translocation, t (14; 19) (q32; q13), which is found in some patients with B-cell chronic lymphocytic leukemia (B-CLL).

BCL3 gene

translocation


Input: Our results show that a family history of Type 2 diabetes is an independent contributor of CRP concentrations, in addition to age, total fatness, central fat accumulation, and insulin resistance.

CRP

insulin resistance


Input: IL-13, RANTES (Regulated on Activation, Normal T cells Expressed and Secreted), and cysteinyl leukotrienes are asthma and atopy mediators.

RANTES

atopy


Input: H. pylori increases mmp-7 mRNA levels in a cag-and p120-dependent manner and induces translocation of p120 to the nucleus in vitro and in a novel ex vivo gastric gland culture system.

translocation


Input: The competitive inhibitor of LPA1 and LPA3 receptors, Ki16425, inhibits efficiently breast cancer bone metastases in animal models.

bone metastases


Input: Our data revealed that aberrant LSD1 overexpression in OSCC was significantly associated with tumor aggressiveness and shorter overall survival.

aggressiveness


Input: Three very recent reports showed the evidence that the IL3 gene, colony stimulating factor 2 receptor alpha (CSF2RA), beta (CSF2RB) and IL-3 receptor alpha (IL3RA), the IL-specific receptor subunits for CSF2 and IL3, respectively, are associated with schizophrenia.

schizophrenia

schizophrenia


Input: A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

neuronal nicotinic acetylcholine receptor alpha 4 subunit

autosomal dominant nocturnal frontal lobe epilepsy

neuronal nicotinic acetylcholine receptor alpha 4 subunit

autosomal dominant nocturnal frontal lobe epilepsy


Input: Two GWASs on systolic blood pressure (SBP), diastolic blood pressure (DBP) and hypertension in Caucasians-Global Blood Pressure Genetics (Global BPgen) and Cohorts for Heart and Aging Research in Genome Epidemiology (CHARGE)-reported 51 single-nucleotide polymorphisms (SNPs) in 12 loci at P < 4 x 10 (-7).

DBP

systolic blood pressure


Input: This study reports SOX10 loss-of-function mutations in approximately one-third of KS individuals with deafness, indicating a substantial involvement in this clinical condition.

KS

KS


Input: We report a new amino acid substitution mutation in codon 155 of KRT1 (valine to aspartic acid) in the conserved H1 domain of the protein in the patient with BCIE.

BCIE

BCIE


Input: Then, 32 CRC or hereditary nonpolyposis colorectal cancer (HNPCC) patients with family history and 20 cases of sporadic CRC were applied to investigate for the large fragment aberrations of MSH2 and MLH1 genes.

sporadic


Input: Immunohistochemistry studies on the skin lesions demonstrated that the infiltrating cells were of the CD3 (+)/CD8 (+) phenotype.

skin lesions


Input: Lung tumors were the predominant tumor type in urethane-treated mice regardless of p21 (Cip1) status.

Lung tumors

Lung tumors


Input: These results not only uncover Pin1 SUMOylation on Lys6/63 as a novel mechanism to inhibit its activity and function but also identify a critical role for SENP1-mediated deSUMOylation in promoting Pin1 function during tumorigenesis.

tumorigenesis


Input: Introduction of CLIC4 or nuclear targeted CLIC4 via adenovirus into human breast cancer xenografts inhibited tumor growth, whereas overexpression of CLIC4 in stromal cells of xenografts enhanced tumor growth.

adenovirus


Input: The mutations of MLH1 and MSH2 have been reported to be responsible for malignant transformation and tumour progression in several sporadic tumours.

sporadic


Input: Among patients treated with clopidogrel for percutaneous coronary intervention, carriage of even 1 reduced-function CYP2C19 allele appears to be associated with a significantly increased risk of major adverse cardiovascular events, particularly stent thrombosis.

thrombosis

thrombosis


Input: Immune suppression in premalignant respiratory papillomas: enriched functional CD4 + Foxp3 + regulatory T cells and PD-1/PD-L1/L2 expression.

respiratory papillomas


Input: CONCLUSIONS AND IMPLICATIONS: Overall, we found a novel sensory TRP acting metabolite and suggest that its use may help to elucidate the physiological role of TRPV4 in nociception and associated inflammation.

TRP

inflammation


Input: This PER3 polymorphism differentially influences the effects of sleep deprivation on executive and non-executive function in the early morning.

sleep deprivation


Input: These results suggested that DHA ameliorated pulmonary fibrosis induced by PQ might be attributed to its enhancement of Smad 7 and SnoN expression.

Smad 7

pulmonary fibrosis

Smad 7

pulmonary fibrosis


Input: In early severe sepsis a gene expression pattern with induction of the pro-apoptotic Bcl-2 family members Bim, Bid and Bak and a downregulation of the anti-apoptotic Bcl-2 and Bcl-xl proteins was observed in peripheral blood.

Bcl-xl

severe sepsis


Input: To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing mutations in age-related macular degeneration (AMD), adult vitelliform macular dystrophy (AVMD), central areolar choroidal dystrophy (CACD), syndrome-associated macular dystrophies, cone-rod dystrophy, and a group with unspecified macular degeneration.

cone-rod dystrophy


Input: The RNA-binding motif (RRM) gene on Y chromosome (RBMY), encoding a male germ cell-specific RNA-binding protein associated with spermatogenesis, was found inserted by hepatitis B virus (HBV) DNA in one childhood hepatocellular carcinoma (HCC).

RBMY

childhood hepatocellular carcinoma


Input: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

PTEN

Cowden disease

PTEN

Cowden disease


Input: We report the mutational analysis of the PTEN gene in one Italian CD kindred.

PTEN

CD

PTEN

CD


Input: We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor XIII (FXIII) V34L, β-fibrinogen b-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA-1) a/b, apolipoprotein B (ApoB) R3500Q, apolipoprotein E (ApoE), E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5, 10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a ViennaLab CVD strip assay.

apolipoprotein E

fibrinogen


Input: Pemphigus vulgaris (PV) is a blistering disease of the skin and mucous membranes characterized by an autoantibody response against a keratinocyte adhesion molecule, desmoglein 3, causing acantholysis and blister formation.

desmoglein 3

acantholysis


Input: Results were correlated with clinicopathological features, therapeutic response, tumor regression grade (TRG), and metastasis-free survival (MeFS), as well as local recurrent-free survival (LRFS) and disease-specific survival (DSS).

TRG

metastasis


Input: We identified the ubiquitin-conjugating enzyme E2-EPF mRNA as differentially expressed in breast tumors relative to normal tissues and performed studies to elucidate its putative role in cancer.

EPF

breast tumors


Input: Significant higher expression (P < 0. 05) of Interferon-gamma, IL-12, IL-23 and GM-CSF were found in Inc-stimulated CD4 enriched cervical cells of CT-positive fertile women and contrastingly high IL-1 Beta, IL-4, IL-5, IL-6 and IL-10 levels were found in CT-positive infertile women.

infertile


Input: Expression of genes associated with adhesion and invasion including several integerins, matrix metalloproteinase (MMP)-3 and vascular endothelial growth factor (VEGF) were down-regulated in both MUC5AC suppressed cells.

adhesion


Input: Filamin C: a novel component of the KCNE2 interactome during hypoxia.

Filamin C

hypoxia


Input: Reduced S100A4 mRNA and protein expression, and inhibited cell migration, invasion, proliferation, and colony formation were observed in niclosamide-treated colon cancer cells in vitro.

colon cancer

colon cancer


Input: Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions.

NF1 gene

sporadic


Input: The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal cord and neurogenic muscular atrophy, recapitulating the symptomatic and pathological phenotype in patients of seipinopathy.

seipin

motor deficit


Input: Elevation of ZNF231 expression may be involved in the pathogenesis of multiple system atrophy.

multiple system atrophy


Input: On the other hand, genetic alterations of the cyclin D1 and p16INK4A genes were not so frequent, but appeared to be associated with the aggressive behavior of the tumor, which suggests that disruption of the cell cycle-related genes results in the progression of HCC.

HCC

aggressive behavior


Input: The heterodimeric L-type amino acid transporter (LAT) 1/CD98hc is overexpressed in lung cancers with a poor prognosis factor.

lung cancers

lung cancers


Input: Two new mutations in the myophosphorylase gene in Italian patients with McArdle' s disease.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: The tumor suppressor PTEN (phosphatase and tensin homologue) negatively regulates the PI3K pathway through its lipid phosphatase activity and is one of the most commonly lost tumor suppressors in human cancers.

tensin

cancers


Input: To determine which ABC transporter was expressed differently in patients with hepatic viral infection, we assayed the expression of MDR1, MDR3, MRP1, MRP2, and MRP3 in non-cancerous regions in the liver of 42 patients with hepatic tumors using both quantitative RT-PCR and immunological staining analysis, and compared the hepatic expression levels between patients with hepatitis viral infection and non-infected controls.

viral infection


Input: The importance of RNA metabolism in disease was highlighted by the discovery of TDP-43 (TAR DNA-binding protein of 43 kDa), an RNA-binding protein (RBP), as a primary component of insoluble aggregates in patients with sporadic amyotrophic lateral sclerosis (ALS).

RBP

amyotrophic lateral sclerosis


Input: These findings indicate that expression of specific adipose tissue fatty-acid-handling proteins is related to obesity and insulin resistance, and that, in particular, FATP4 plays a role in acquired obesity.

insulin resistance


Input: These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS.

APC

FAP

APC

FAP


Input: We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD).

FAD

sporadic


Input: Both lipoma-like and myxoid components of the same MLSLC exhibited the identical FUS-DDIT3, as confirmed by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR).

FUS

lipoma


Input: In conclusion, we found that NIPP1 could be activated by hypoxia and contributed to hypoxia-induced invasive and metastatic potential in HCC.

hypoxia


Input: Analysis of these cell lines indicated that induction of Gab2WT expression, but not Gab2Tyr604Phe expression, led to Erk activation, growth arrest, cell spreading, and enlargement; expression of megakaryocyte/platelet lineage-specific integrins alphaIIb/beta3 (CD41/CD61); and upregulation of RNA for megakaryocyte/platelet proteins.

enlargement


Input: Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.

psychosis

psychosis


Input: A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

GTP cyclohydrolase I

dopa responsive dystonia

GTP cyclohydrolase I

dopa responsive dystonia


Input: Taken together, this study argues that p73 is not a target of genetic alteration in gastric carcinogenesis and suggests that overexpression of p73 might be triggered by physiological stresses accompanied with outgrowth of tumors, such as hypoxia or nutrient deprivation.

hypoxia


Input: NTE enzymatic activity was significantly reduced in fibroblast cells derived from individuals with Oliver-McFarlane syndrome.

NTE

Oliver-McFarlane syndrome

NTE

Oliver-McFarlane syndrome


Input: Next, we analyzed the relationship between ABCC11 gene expression and MTA sensitivity of 13 adenocarcinoma cells, but there was no correlation.

ABCC11 gene

adenocarcinoma


Input: We studied the genetic markers in human leukocyte antigen (HLA) region HLA-A,-B,-C,-DR,-DQ, C2, Bf, C4A, and C4B of 31 patients with erythema multiforme (EM) and their families.

erythema multiforme


Input: Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.

SGCE

Myoclonus-dystonia

SGCE

Myoclonus-dystonia


Input: In particular, mutations in GRN account for 5-10% of all cases and give rise to a wide spectrum of clinical phenotypes, ranging from behavioral frontotemporal dementia (bvFTD) to primary progressive aphasia, including progressive non-fluent aphasia (PNFA) and semantic dementia, and corticobasal syndrome (CBS).

CBS

primary progressive aphasia


Input: To characterize FOXF1 protein expression in colorectal cancer, designed tissue microarrays, comprising 50 cases of primary colorectal adenocarcinoma paired with matched adjacent normal tissue, were utilized in the immunohistochemistry (IHC) study.

colorectal adenocarcinoma


Input: Our results suggest that ARG2 and eNOS may work in a coordinated manner and the underlying mechanism might be of major significance for thyroid tumorigenesis and/or tumor progression pathways.

tumorigenesis


Input: Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.

apolipoprotein-E

lung tumor

apolipoprotein-E

lung tumor


Input: In contrast to normal liver, HCC xenografts showed high telomerase activity, resulting in tumor-restricted expression of E1A by a telomerase-dependent replicating adenovirus (hTERT-Ad).

HCC

adenovirus


Input: We detected MAML2 rearrangement using fluorescence in situ hybridization (FISH) in tissue samples from 42 cases of PMEC and 40 of adenosquamous carcinoma (ASC), and the expression of potential downstream targets of MECT1-MAML2, including HES1, FLT1 and NR4A2 with immunohistochemistry (IHC).

FISH

adenosquamous carcinoma


Input: Concurrent B-ALL with MPN is uncommon except in the presence of abnormalities of the PDGFRA, PDGFRB, or FGFR1 genes or the BCR-ABL1 fusion gene.

PDGFRA

abnormalities


Input: Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role in more aggressive and potentially metastatic breast tumors.

breast tumors


Input: The hNIS gene was transfected to human hepatocellular carcinoma SK-Hep1 cell lines using lipofectamine plus reagent.

hNIS

hepatocellular carcinoma

hNIS

hepatocellular carcinoma


Input: WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p. Y198.

progressive pseudorheumatoid dysplasia

progressive pseudorheumatoid dysplasia


Input: We investigated a range of molecular events including mutation frequency of K-ras, microsatellite instability within the coding region of TGF-beta RII, BAX, and IGF-IIR, loss of expression of p53, hMLH1, hMSH2, hMSH6, and PTEN, and methylation of hMLH1, hMSH2, and PTEN within a large population-based series of sporadic endometrial carcinomas to establish whether there are distinct differences between replication error repair (RER (+)) and RER (-) cases.

sporadic


Input: The aim of this study was to examine whether IL-4, a cytokine with anti-inflammatory activity, could modulate glomerular inflammation and reduce injury in vivo.

inflammation


Input: These studies demonstrate that aberrant methylation of RAR-beta is an early and common alteration in murine lung tumors induced by several environmentally relevant exposures.

RAR-beta

lung tumors

RAR-beta

lung tumors


Input: This mutation results in an amino acid substitution at residue 397 of the FIX zymogen and the phenotypic display of hemophilia-B.

FIX

hemophilia-B

FIX

hemophilia-B


Input: Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Coffin-Siris syndrome

Coffin-Siris syndrome


Input: The microarray-based expression of QKI was evaluated in cortical and subcortical brain regions from suicide victims with a diagnosis of major depression (n = 16) and control subjects (n = 13).

QKI

major depression

QKI

major depression


Input: Secondary cell-based analysis demonstrated that stresscopin and FoxD3 are increased in neurons of DLPFC gray matter of MDD subjects.

MDD

MDD


Input: Using a leukemia cell line model, we show that TOP2 beta (TOP2B) is required for induction of RUNX1 chromosomal breaks by the TOP2 poison etoposide and that, while TOP2 alpha (TOP2A) and TOP2B proteins are both present on RUNX1 and RUNX1T1 chromatin, only the TOP2B enrichment reached significance following etoposide exposure at a region on RUNX1 where translocations occur.

chromosomal breaks


Input: Similarly lower levels of IGF-I, and high levels of IFN-gamma, are statistically significantly (P & lt; 0. 05) associated with higher DRS scores (more severe delirium).

IGF-I

delirium

IGF-I

delirium


Input: Four splicing and four missense mutations were identified in 16 patients with BM, six of which are novel mutations in COL6A1.

BM

BM


Input: Phospho-DeltaNp63alpha/NF-Y protein complex transcriptionally regulates DDIT3 expression in squamous cell carcinoma cells upon cisplatin exposure.

squamous cell carcinoma


Input: Previously we found that particular genotypes and/or alleles of five single nucleotide polymorphisms (SNPs) located within OAS2 and OAS3 genes are associated with predisposition to severe forms of tick-borne encephalitis (TBE) in Russian population.

tick-borne encephalitis


Input: Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations.

SDHD

crest


Input: No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.

N-ras

chronic hepatitis


Input: Mice lacking JunD (knockout [KO]) showed increased mortality and enhanced cardiomyocyte apoptosis and fibrosis associated with increased levels of hypoxia-induced factor-1alpha, vascular endothelial growth factor (VEGF), p53, and Bax protein and reduced levels of Bcl-2 protein after 7 days of severe pressure overload compared with wild-type (WT) siblings.

JunD

fibrosis


Input: All families with POT1 mutations had affected members with oligodendroglioma, a specific subtype of glioma more sensitive to irradiation.

oligodendroglioma

oligodendroglioma


Input: Although an extended analysis with a larger sample size or independent replication is required, these findings suggest a genetic association of EGR2 with BD.

BD

BD


Input: As tumorigenesis in HNPCC is driven by deficient DNA mismatch repair (MMR), we compared its typical consequence, instability at microsatellite sequences, in colorectal and endometrial cancers from patients with identical predisposing mutations in the MMR genes MLH1 or MSH2.

MMR

tumorigenesis


Input: We identified three genes matching all of our selection criteria for a tumor-suppressor gene (period homolog 3 [PER3], insulin-like growth-factor-binding protein, acid labile subunit [IGFALS], and protein Z).

IGFALS

tumor


Input: Here, we show that the dopamine-and cAMP-regulated phosphoprotein 32 kDa (DARPP-32), a key inhibitor of protein phosphate-1 (PP-1) that regulates CREB phosphorylation, is cleaved by activated calpain in both AD brains and neuronal cells treated with amyloid-β or okadaic acid, a protein phosphatase-2A inhibitor that induces tau hyperphosphorylation and neuronal death.

CREB

amyloid


Input: The distinct regulation of PLA2G4C, PLA2G2D and ALOX15 genes in Aspergillus sensitization and/or cystic fibrosis could provide new insights into diagnosis and treatment of ABPA and CF.

cystic fibrosis


Input: Association of the Laminin, Alpha 5 (LAMA5) rs4925386 with height and longevity in an elderly population from Southern Italy.

height


Input: We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy.

West syndrome

West syndrome


Input: Low frequencies of CD4 (+) CD146 (+) T cells are found in the circulation of healthy adults, but the frequency of these cells is significantly increased in the circulation of patients with inflammatory autoimmune diseases including Behcet' s, sarcoidosis and Crohn' s disease.

sarcoidosis


Input: Patients with FISH abnormalities in CD38 + cells showed a distinctive microRNA profile, characterized by the down-regulation of miR-125a-5p both in the CD38-and CD38 + populations.

abnormalities


Input: In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.

infantile nephronophthisis

infantile nephronophthisis


Input: Infection with AdSLPI. E1AdB yielded E1A protein expression and adenovirus replication resulting in a > 100-fold increase of the virus titers only in SLPI-producing NSCLC cells (A549, H358, and HS24 cells).

SLPI

adenovirus


Input: LECT2-knockout (KO) mice and NOD/SCID/IL2rgnull (NSG) mice were respectively used to investigate the effects of LECT2 on the tumorigenicity and metastasis of murine (Lewis lung carcinoma, LLC) and human (HCC827) lung cancer cells.

lung cancer

lung cancer


Input: Although in adult nulliparous females, a single ThrbPV allele did not contribute to mammary gland abnormalities, the presence of two ThrbPV alleles led to mammary hyperplasia in ∼ 36% Thrb (PV/PV) mice.

Thrb

hyperplasia


Input: The mechanism of increased SLC activity in hyperlipidaemia is different from that in essential hypertension where increased sodium affinity is found.

SLC

hyperlipidaemia


Input: We performed RT-PCR to detect the expression of hTERT mRNA in 78 patients with HCC, 10 with liver cirrhosis (LC), 12 with chronic hepatitis (CH), and 34 healthy individuals without any liver diseases and cancers, and statistically analyzed the association with clinical parameters which include age, sex, etiology, Child classification, underlying liver disease, biochemical data, alpha-fetoprotein (alpha-AFP) number and size of tumor, and histological differentiation of HCC regarding HCC patients.

HCC

chronic hepatitis


Input: During reperfusion, PCNA mRNA levels were up-regulated in the vulnerable CA1 subfield at 36 h following normothermic ischemia.

ischemia


Input: We found more frequent expression of CHEK2 in BRCA1 and BRCA2 tumors than in non-BRCA1/2 and sporadic tumors.

sporadic


Input: Here, we focused on two terminal cell death effectors; caspase-activated DNase (CAD) and lysosomal enzyme DNase II, in the monkey CA1 sector undergoing 18 min ischemia.

ischemia


Input: Significantly, DNMT1-deficient cells demonstrated profound defects in these responses, including complete lack of gamma-H2AX induction and blunted p53 and CHK1 activation, while DNMT3B-deficient cells generally showed mild defects.

mild


Input: Over-expression and increased activity of cyclooxygenase (COX)-2 induced by smoking has been implicated in the development of cancer.

COX

smoking


Input: Plasma CD40L, CXCL5, CCL5 and EGF are mainly platelet-derived, suggesting a role of platelets in immune responses and inflammation.

inflammation


Input: Simvastatin inhibits NOR-1 expression induced by hyperlipemia by interfering with CREB activation.

CREB

hyperlipemia


Input: Utilizing a highly sensitive reverse transcription-polymerase chain reaction assay for HGV-RNA, we were unable to detect HGV-RNA within the livers of patients with cryptogenic cirrhosis or in the HCC arising within them.

HCC

cryptogenic cirrhosis


Input: To our knowledge, this is the first definitive case of pilocytic astrocytoma presenting as PDLG.

PDLG

pilocytic astrocytoma


Input: In addition, we show that hippocampal regions that are relatively free of AD neuropathology during early stages of the disease exhibit severely compromised PS2 mRNA levels even in mild AD cases.

mild


Input: After exposure, hepatic inflammation (interleukin-6 [IL-6] mRNA and protein, tumor necrosis factor α [TNFα] mRNA and protein) and liver coagulant/anticoagulant factors (antithrombin [AT], fibrinogen [FIB] and Factor VIII [F VIII]) were evaluated.

Factor VIII

fibrinogen


Input: Nicotinamide mononucleotide adenylytransferase (NMNAT) is a neuroprotective factor that delays axon degeneration following injury and in models of neurodegenerative diseases suggesting a converging molecular pathway of axon self-destruction.

NMNAT

neurodegenerative diseases


Input: The parental cell line was cloned into 2 sublines, a P-type clone (SCMC-MM-1-19P) and a T-type clone (SCMC-MM-1-1T), which shared both 2q37 and 11p15 translocations, the characteristic chromosomal aberrations for rhabdomyosarcoma, with the parental SCMC-MM-1 cell line.

rhabdomyosarcoma


Input: Cox proportional hazard models computed hazard ratio (HR) for death, adjusted for potential confounders, including p53, cyclin D1, KRAS, BRAF, PIK3CA, LINE-1 hypomethylation, CpG island methylator phenotype (CIMP), and microsatellite instability (MSI).

cyclin D1

microsatellite instability


Input: By qRT-PCR, PLSCR4 and EMX2 were significantly down-regulated in the schizophrenia suicide completers, but could not be confirmed in bipolar disorder.

schizophrenia

schizophrenia


Input: Etanercept treatment of patients with active AS results in regression of spinal inflammation as assessed by spinal MRI.

MRI

inflammation


Input: The average PPARGC1A methylation at four CpG sites situated 867-624 bp from the transcription start was associated with whole-body insulin sensitivity in a paradoxical positive manner (β = 0. 12, P = 0. 03), supported by a borderline significant inverse correlation with fasting insulin levels (β =-0. 88, P = 0. 06).

insulin sensitivity


Input: Patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF) often suffer chronic respiratory tract disease.

TEF

respiratory tract disease


Input: Western blotting revealed downregulated TRPV1 and PGC1α as well as upregulated UCP2 and activation of GSK3β, GATA4, and CREB in cold-stressed WT mouse hearts, which were obliterated by ETAKO.

cold


Input: The results indicated statistically significant lower protein and mRNA levels of the N-methyl-D-aspartate receptors, NR-1 and NR-3A, but significantly higher protein and mRNA levels of interleukin (IL)-1beta, the IL-1 receptor (IL-1R), myeloid differentiation factor 88, nuclear factor-kappa B subunits, and astroglial and microglial markers (glial fibrillary acidic protein, inducible nitric oxide synthase, c-fos and CD11b) in postmortem frontal cortex from BD compared with control subjects.

BD

BD


Input: DN-Lats2 significantly attenuated induction of apoptosis and inhibition of hypertrophy by Mst1, indicating that Lats2 mediates the function of Mst1 in cardiac myocytes.

hypertrophy


Input: One-way analysis of variance (ANOVA) was performed between each genetic marker and 24-h systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as two-way ANOVAs to test the interaction effect with job strain.

ANOVA

diastolic blood pressure


Input: The molecular chaperone heat shock protein 90 (HSP90) is overexpressed in plaques of atherosclerosis patients, and is associated with plaque instability.

plaque


Input: We found that human age-related nuclear cataract is not associated with LMNA gene mutations or truncation of lamin A.

lamin A

age-related nuclear cataract


Input: The levels of CR1, DAF, and CD59 on E were analyzed in 176 HD patients with DMN, 101 HD patients with non-diabetes mellitus renal diseases (non-DMN), and 108 healthy individuals.

renal diseases


Input: The objective of this study was to evaluate the possible role of the IL-4 receptor alpha gene in modulating allergic response and asthma in the Japanese population.

alpha gene

allergic response


Input: Mutations in the alpha-l-iduronidase A (IDUA) gene cause mucopolysaccharidosis type I (MPS I), a progressive multisystem disorder with features ranging over a continuum from mild to severe which is inherited in an autosomal recessive manner.

IDUA

mild


Input: UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO.

ETO

preleukemia


Input: Immunohistochemical examination of human squamous cell carcinoma specimens revealed a prominent granular staining of heparanase within the nuclei of the epithelial tumor cells vs no nuclear staining in the adjacent stromal cells.

heparanase

epithelial tumor


Input: No interaction was detected between NAT2 and any exposure of interest, including smoking.

smoking


Input: An important regulatory mechanism of translational repression under hypoxic conditions involves inhibition of the mammalian target of rapamycin (mTOR).

mammalian target of rapamycin

hypoxic


Input: Steady-state plasma glucose (SSPG) concentrations during the insulin suppression test, a reflection of the degree of insulin resistance, were also negatively correlated to adipose tissue LPL mRNA (rho =-0. 50, P < 0. 02) and activity (rho =-0. 56, P < 0. 01).

LPL

insulin resistance


Input: In asymptomatic family members, however, telomere length was not a reliable predictor for the presence or absence of a TERC or TERT gene mutation.

TERC

asymptomatic


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

sparse hair


Input: It is the fourth reported mutation of the TGFBI gene associated with LCDI.

TGFBI

LCDI

TGFBI

LCDI


Input: Inactivation of the CDKL3 gene at 5q31. 1 by a balanced t (X; 5) translocation associated with nonspecific mild mental retardation.

CDKL3 gene

translocation


Input: REN-9,-10,-19, and-26 have a known association with human cancer.

REN

cancer


Input: Animals pre-treated with IL-1ra exhibited significant reduction of SE onset and of BBB damage.

SE

SE


Input: These data implicate MAL as a commonly altered gene in breast cancer with implications for response to chemotherapy.

MAL

breast cancer

MAL

breast cancer


Input: When overexpressed, SAG inhibits apoptosis induced by reactive oxygen species or hypoxia.

SAG

hypoxia


Input: ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.

sporadic


Input: Here, we conducted a case-control study in Tunisian women to examine the effect of genetic variation in HLA class II DRB1 and DQB1 genes on invasive cervical cancer (ICC) and squamous cell carcinoma (SCC).

invasive cervical cancer


Input: In streptozotocin (STZ)-induced diabetic rats, mesangial and glomerular hypertrophy and an increase in the glomerular filtration rate (GFR) and albuminuria were observed after 12 weeks of STZ injection.

GFR

albuminuria


Input: As HIF-1alpha is known to be stabilized by ERBB2 signaling under normoxic conditions, we propose that alpha5 integrin is a major effector in this regulatory circuit and may represent the molecular basis for the HIF-1alpha-dependent aggressiveness observed in ERBB2-overexpressing breast carcinomas.

aggressiveness


Input: In addition, we conduct ROC analyses to detect the potential application of miR-143 and miR-215 in the diagnosis of chronic hepatitis and HCC.

HCC

chronic hepatitis


Input: Predisposing factors include achlorhydria, Helicobacter pylori infection, oxyntic atrophy and TFF2-expressing metaplasia.

atrophy


Input: AGM posttreatment reduced cerebral infarct size and neurological deficit expression in diabetic rats subjected to MCAO.

AGM

neurological deficit


Input: No significant correlation was identified between the expression of IMP3 and CK8/18 and the tumor grade in both BRCA-mutated and sporadic breast carcinomas (p > 0. 05).

sporadic


Input: However, using this large cohort of subjects, we were able to replicate the mild effects of 2 nonsynonymous SNPs, rs1613662 in GP6 and rs13146272 in CYP4V2, recently suspected to be associated with VTE.

mild


Input: The ureteral stone group also had significantly lower erythrocyte glutathione peroxidase levels and glutathione reductase activity than the controls.

glutathione reductase

ureteral stone

glutathione reductase

ureteral stone


Input: Cytogenetic and molecular-genetic characteristics in peripheral T cell lymphoma (PTL) have not been well defined, except for those in adult T cell leukemia/lymphoma (ATL/L).

PTL

lymphoma


Input: Megf10 regulation of myoblast function appears to be mediated at least in part via interactions with key components of the Notch signaling pathway, and defects in these interactions may contribute to the pathogenesis of EMARDD.

EMARDD

EMARDD


Input: We have previously shown that IKKs are aberrantly activated in colon cancer cells leading to SMRT phosphorylation and its release from the chromatin.

SMRT

colon cancer


Input: Mutations associated with abnormal LCAT activation are located within repeats 5, 6, and 7, corresponding to amino acids 121 to 186, while many of the mutations found in amyloid deposits are clustered at the amino terminus of the protein, namely residues 1 to 90.

LCAT

amyloid deposits


Input: To explore the relevance of XIAP, Smac/DIABLO, and XAF1 for carcinogenesis and tumor progression, we analyzed 46 primary gastric adenocarcinomas and non-neoplastic gastric mucosa samples by quantitative real-time polymerase chain reaction.

non-neoplastic


Input: We studied whether variations in single nucleotide polymorphisms (SNPs) in the TNF, glutathione S transferase P1 (GSTP1) and beta2-adrenoreceptor (ADRB2) genes modify the effect of early maternal smoking on the development of childhood asthma, wheeze and allergic sensitization.

TNF

smoking


Input: Resting heart rate (HR), diastolic blood pressure (DBP), and systolic blood pressure (SBP) were examined before and after treatment.

DBP

systolic blood pressure


Input: We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.

neuroblastoma

neuroblastoma


Input: In order to determine whether their expression pattern changes in lymphoid tumors, we examined cyclin D2 and D3 expression in non-neoplastic and neoplastic lymphoid lesions, using a sensitive immunohistochemical amplification method.

cyclin D2

non-neoplastic


Input: ErbB3 mRNA leukocyte levels as a biomarker for major depressive disorder.

major depressive disorder

major depressive disorder


Input: The purpose of this study was to compare the imaging findings of nontuberculous mycobacterial (NTM) infection in patients with normal and abnormal cystic fibrosis (CF) genotypes, and normal and abnormal alpha1-antitrypsin (AAT) phenotypes.

NTM

cystic fibrosis


Input: However, microsatellite alleles at a surrogate locus (Ighe) 12. 7 cM from chromogranin A (Chga), on rat chromosome 6, failed to co-segregate with blood pressure in an F2 generation (F = 0. 06, p = 0. 94).

Ighe

blood pressure


Input: To normalize the levels of this protein, PhGPx was overexpressed in MIA PaCa-2 and AsPC-1 human pancreatic cancer cells by infection with an adenovirus-PhGPx L-form construct (AdPhGPx-L-form) (0-200 MOI) or with an adenovirus-PhGPx S-form construct (AdPhGPx-S-form) (0-200 MOI), and cell growth, plating efficiency, and growth in soft agar were determined.

MIA

adenovirus


Input: Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Autosomal-Dominant Multiple Pterygium Syndrome

Autosomal-Dominant Multiple Pterygium Syndrome


Input: We also identified recurrent HBV integration events (in & #8805; 4 HCCs) that were validated by RNA sequencing (RNA-seq) and Sanger sequencing at the known and putative cancer-related TERT, MLL4 and CCNE1 genes, which showed upregulated gene expression in tumor versus normal tissue.

HCC

HCC


Input: Instead, these data fit closely with an absence of selective pressures acting on BRCA2 and MRE11 gene status during tumorigenesis.

tumorigenesis


Input: Three regions containing genes associated with renal cancer were identified: caspase 1/5/4/12 (CASP 1/5/4/12), epidermal growth factor receptor (EGFR), and insulin-like growth factor binding protein-3 (IGFBP3).

CASP

renal cancer


Input: SPARC expression was correlated with leptin independent of fat mass and correlated with homeostasis model assessment-insulin resistance.

SPARC

insulin resistance


Input: Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

fibroblast growth factor receptor 3

hypochondroplasia

fibroblast growth factor receptor 3

hypochondroplasia


Input: These results have important implications for our understanding of the role of Tbx2 in tumorigenesis because polyploidy frequently precedes aneuploidy, which is associated with high malignancy and poor prognosis.

aneuploidy


Input: These data support the clinical utility of targeting specific nAChR subtypes for the alleviation of cocaine-abuse symptomatology.

nAChR

cocaine-abuse

nAChR

cocaine-abuse


Input: BRCA1-and BRCA2-associated tumors have distinct histologic and molecular phenotypes, as compared to sporadic breast tumors.

sporadic


Input: Together, these results suggest common genetic variation associated with reduced FREM3 expression may confer risk for a subtype of depression characterized by reduced reactivity to environmental stimuli and slower perceptual processing speed, possibly suggestive of accelerated aging.

depression


Input: Our results showed that viremia persists life-long lasting for more than a year, and that CD4 T cell levels display a continuous declining trend as seen in the human.

viremia


Input: Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (Gly208Cys) near the active site of NFU1, an Fe/S scaffold protein, via an in vitro investigation into the structural and functional consequences.


Input: With diet Type I and in the WT group, body mass index (BMI), weight, fat mass (FM), systolic blood pressure (SBP), diastolic blood pressure (DBP), glucose, insulin, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) concentrations decreased.

DBP

systolic blood pressure


Input: Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.

OSGEP

GAMOS

OSGEP

GAMOS


Input: Retinol binding protein-4 (RBP4) has been reported to impair insulin sensitivity throughout the body.

insulin sensitivity


Input: To analyse the expression of several mucins (MUC1, MUC2, MUC3, MUC5AC and MUC6), epidermal growth factor receptor (EGFR), v-erb-b2 erythroblastic leukaemia viral oncogene homologue 2 (HER2), thyroid transcription factor-1 (TTF-1), caudal type homeobox 2 (CDX2) and cytokeratin 20 (CK20), and the presence of mutations of EGFR, KRAS and HER2 in congenital pulmonary airway malformations (CPAM).

leukaemia


Input: Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation.

Matthew-Wood syndrome

Matthew-Wood syndrome


Input: We detected a statistically significant positive association between miR-30e ss178077483 and MDD (allelic P = 0. 0287; genotypic P = 0. 0275).

MDD

MDD


Input: Stromal expression of CD10 (> 10% stromal positivity was considered positive) in invasive breast carcinoma was noted and was statistically analyzed with different known prognostic markers of breast carcinoma.

invasive breast carcinoma


Input: The association of radiographic hand osteoarthritis (RHOA) and osteoporosis related phenotypes (RHOP) with polymorphisms in IL-6 has been reported inconsistently.

RHOA

hand osteoarthritis


Input: In prior studies, we observed PAO in the cardiomyocytes of many human heart failure samples.

PAO

heart failure


Input: Our findings suggest that increased microbial translocation and dysregulated TLR expression/signaling, coupled with an elevated frequency of regulatory B cells, precede the diagnosis of AIDS-NHL in HIV-infected ART-treated patients.

ART

translocation


Input: Interestingly, comparison of laryngeal carcinoma patients on the basis of MIF tissue expression (high expression, LI ≥ 47, versus low expression, LI < 47) disclosed a significant difference between disease-free survival curves for local and nodal recurrence, and overall survival curve.

MIF

laryngeal carcinoma


Input: In a large series of subjects carrying mutations in the LCAT gene, the inheritance of a mutated LCAT genotype causes a gene-dose-dependent alteration in the plasma lipid/lipoprotein profile, which is remarkably similar between subjects classified as FLD or FED.

LCAT

FED

LCAT

FED


Input: Interleukin-13 receptor A1 gene polymorphism and IL-13 serum level in atopic and non-atopic Egyptian children.

atopic


Input: HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase (ALPL) gene, which encodes tissue-non-specific alkaline phosphatase isoenzyme.

HPP

disorder of bone


Input: Time to leukemia (TTL) was determined for each patient sample engrafted as weeks from transplant to overt leukemia.

TTL

leukemia


Input: Lipoteichoic acid (LTA), a component of the cell wall of most gram-positive bacteria, has been shown to play a significant role in the initiation and progression of bacterial infection.

LTA

bacterial infection


Input: BRCA2 tumours were significantly positive for PARP1 (non-cleaved) compared with sporadic tumours.

sporadic


Input: In our study, we have determined the ATM mutation spectrum in 19 classical A-T patients, including some immigrant populations, as well as 12 of Dutch ethnic origin.

ATM

A-T

ATM

A-T


Input: At the genome level, a pathognomonic EWSR1-ETS translocation is present.

translocation


Input: Evaluation of 60 sporadic meningiomas with a panel of eight microsatellite and two restriction fragment length polymorphism markers at the locations of BRCA1 and BRCA2 demonstrated no loss of heterozygosity.

sporadic


Input: T cell recognition of Dsg3 was thus not only restricted by the pemphigus vulgaris associated DRbeta1 * 0402 allele, but also by several DR11 alleles, some of which are highly homologous to DRbeta1 * 0402, and by HLA-DQbeta1 * 0301.

pemphigus vulgaris


Input: Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

X-linked myotubular myopathy

X-linked myotubular myopathy


Input: Genetic polymorphisms in several genes (TPH2, SLC6A4, HTR1A, HTR2A, COMT, and BDNF) were tested as predictors of relapse (defined as any drinking during follow-up) while controlling for baseline measures.

drinking


Input: The leukemia stem cell (LSC) hypothesis proposes that a subset of cells in the bulk leukemia population propagates the leukemia. We tested the LSC hypothesis in a mouse model of Notch-induced T-cell acute lymphoblastic leukemia (T-ALL) in which the tumor cells were largely CD4 + CD8 + T cells.

leukemia


Input: We previously reported that PIMT was downregulated at both gene and protein levels by DA-induced oxidative stresses in SH-SY5Y neuroblastoma cells.

PIMT

neuroblastoma


Input: RBP4 mRNA levels in adipose tissue and muscle of nondiabetic human subjects with either normal or impaired glucose tolerance (IGT) were studied, along with plasma RBP4.

impaired glucose tolerance


Input: Three polymorphisms (Tyr113His, His139Arg, and-613C/T) were analyzed by polymerase chain reaction (PCR) restriction fragment length polymorphisms (RFLPs) in 394 patients at different stages of disease, including 92 asymptomatic carriers, 109 patients with chronic hepatitis, 100 patients with cirrhosis, and 93 patients with HCC.

HCC

chronic hepatitis


Input: XRCC1 194Trp was associated with smoking in the CG group, while the variant alleles XRCC1 399Gln and XRCC3 241Met were related with gender, smoking, drinking and H pylori infection in the CG and GC groups.

smoking


Input: Both STX17 and the neighboring NR4A3 gene are overexpressed in melanomas from Gray horses.

melanomas

melanomas


Input: Iontophoresis of U-II in healthy volunteers produces vasodilation (of the forearm) while in patients with heart failure or hypertension a constriction is observed.

U-II

constriction


Input: Here, we show that a Toll-like receptor (TLR) protein, radioprotective 105 (RP105)/myeloid differentiation protein (MD)-1 complex, contributes to high-fat diet (HFD)-induced obesity, adipose tissue inflammation, and insulin resistance.

inflammation


Input: Finally, we found that liver Sort1 was repressed after BDL, which may be due to BA activation of farnesoid x receptor.

liver

liver


Input: In addition, the sequential dynamics of CD8 responses in 6 LTNPs showed that with a quick loss of CD4 T-cells around the range of 500 to 300 cells/mm (3), more vigorous CD8 responses were induced simultaneously, and plasma viremia was still kept relatively stable.

viremia


Input: Overexpression of phosphorylated-ATF2 and STAT3 in cutaneous angiosarcoma and pyogenic granuloma.

pyogenic granuloma


Input: Disturbing the expression, transactivation or homo-/heterodimerization of the SOHLH2 protein could result in ovarian failure.

ovarian failure


Input: In vitro studies have shown that colonocytes from chronically inflamed colon and cultured colon cancer cells are capable of expressing ICAM-1.

colon cancer

colon cancer


Input: p53 at the crossroads between cancer and neurodegeneration.

neurodegeneration


Input: Interferon gamma receptor 2 (IFN gamma R2) deficiency is an exceedingly rare primary immunodeficiency, conferring almost selective predisposition to mycobacterial diseases.

IFN

primary immunodeficiency


Input: Functional analysis using dissociation electrophoretic mobility shift and yeast two-hybrid assays showed reduced binding affinity to the GATA motifs but normal interaction with FOG in vitro.

GATA

dissociation


Input: More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS.

MFS

MFS


Input: Therefore, OPN expression by lesion-associated macrophages may contribute to the nonpermissive nature of the adult CNS preventing axonal regeneration following injury.

OPN

axonal regeneration


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

VWF

blood pressure


Input: In the present study, we examined the expression of OPG in gastric carcinomas using immunohistochemistry and reverse-transcription polymerase chain reaction methods, and compared with clinicopathological parameters.

OPG

carcinomas


Input: The expression of IL-25, IL-17RA and IL-17RB on eosinophils, and levels of plasma IL-25 were measured in 14 normal control subjects, 15 atopic nonasthmatics and 14 mild allergic asthmatics.

atopic


Input: In tumor xenografts established by p53-mutated HCC cells, adenovirus encoding p53-PTM induced cell cycle arrest and apoptosis and then blocked the growth of tumors in mice.

HCC

adenovirus


Input: To elucidate the biological effects of LMP1 and the significance of its restricted expression in EBV-associated gastric carcinomas, the LMP1 gene was transferred into EBV-negative gastric carcinoma cell lines (SCM1 and TMC1) and into EBV-negative nasopharyngeal carcinoma (NPC) cells (HONE-1) as a control.

carcinomas


Input: A total of 227 individuals with viral hepatitis, 53 cirrhotic and 174 non-cirrhotic, were genotyped for the XRCC1 rs25487 polymorphism using PCR-RFLP.

viral hepatitis


Input: We demonstrate that specific downregulation of PS2 expression is as severe in subjects with mild AD as it is in subjects in late stages of the disease.

mild


Input: Atherosclerotic lesions showed a marked expression of pentraxin 3 on the surface of lumen and in the plaque.

pentraxin 3

plaque


Input: We conclude that heterozygous p. Leu68Phe ADRA2A mutation causes a rare atypical FPLD, most likely by inducing excessive lipolysis in some adipose tissue depots.

FPLD

FPLD


Input: Meta-regression demonstrated a larger difference between GHR (d3) and GHR (wt-wt) in studies using lower rhGH doses and carried out at a higher age, independently of the cause of short stature.

GHR

regression


Input: AIM: To establish if PTCH1a transcriptional regulation region (TRR) is methylated in gastric cancer and its influence in gastric tumorigenesis.

AIM

tumorigenesis


Input: IL-8 and G-CSF levels in BAL fluid correlate only with the percentage and the absolute number of neutrophils of the BAL fluid in patients with PF (p = 0. 02/p = 0. 01; p = 0. 01/p = 0. 01; respectively).

PF

PF


Input: Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.

breast cancer

breast cancer


Input: Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

Palmoplantar Keratoderma

Palmoplantar Keratoderma


Input: We genotyped the Int8 and 3' UTR variable number of tandem repeats of the dopamine transporter gene (DAT1/SLC6A3), the TaqIA (rs1800497) and TaqIB (rs1079597) SNP polymorphisms within the dopamine receptor D2 gene and the 19-bp insertion/deletion and c. 444G > A (rs1108580) polymorphisms of the dopamine β-hydroxylase gene (DBH) in a Spanish sample of 169 patients with cocaine addiction and 169 sex-matched controls.

cocaine addiction


Input: Our findings showed a wide phenotypic spectrum ranging from asymptomatic females with an HCCS mutation to patients with a neonatal lethal MLS form.

HCCS

asymptomatic


Input: The aim of our study was to test the hypothesis that elevated plasma leptin and insulin levels as well as systolic blood pressure (SBP) and diastolic blood pressure (DBP) and increased resting HR preexist in the healthy offspring of patients with EH.

DBP

systolic blood pressure


Input: T helper subtype 2 cytokines, such as interleukin (IL)-4 and IL-13, may have an important role in the development of atopy.

atopy


Input: Advanced fibrosis/cirrhosis in the peritumoral liver was the only clinicopathological factor associated with the 6p21. 1 amplicon in HCC/MS.

HCC

fibrosis


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

Nerve growth factor

glomerulonephritis

Nerve growth factor

glomerulonephritis


Input: Compound 2 blocked HSV-1-induced activation of NF-kappaB by inhibiting its translocation to the nucleus of infected corneal and conjunctival cells in vitro, as well as significantly reduced the secretion of TNF-alpha in infected NHC cells.

TNF-alpha

translocation


Input: In summary, we describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in CAST.

CAST

PLACK

CAST

PLACK


Input: Collectively, these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDH complex as a plausible alternate mechanism of tumorigenesis in CT.

SDHC gene

tumorigenesis


Input: Moreover, JunD (-/-) mice were protected from bleomycin-induced fibrosis with reduced dermal thickening, decreased myofibroblast counts and lower collagen content of lesional skin.

JunD

fibrosis


Input: Here we tested the potential of Hsp70 (approved gene symbol HSPA1A) for gene therapy in the 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP) mouse model of idiopathic PD.

PD

PD


Input: By contrast, none of the polymorphisms in MMP1, MMP2, MMP3, MMP9, or MMP10 was significantly associated with either acute MI compared with angina, or with coronary disease compared with controls.

angina


Input: Using parametric multipoint linkage analysis and whole exome sequencing, we have identified a gene responsible for microcephaly (MCP), severe visual impairment, intellectual disability, and short stature through the mapping of a homozygous nonsense alteration in a multiply-affected consanguineous family.

MCP

short stature


Input: Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in PAPSS2.

SEMD

mild


Input: PwCPs formed a monophyletic clade into cathepsin F and showed differential expression patterns along with developmental stages of worm.

cathepsin F

worm


Input: Mutations in ECEL1 cause distal arthrogryposis type 5D.

distal arthrogryposis type 5D

distal arthrogryposis type 5D


Input: The authors assessed the linkage between this gene and schizophrenia spectrum disorders by using polymorphic dopamine transporter gene markers in 156 subjects from 16 multiplex pedigrees with schizophrenia as well as schizophreniform, schizoaffective, and schizotypal disorders and mood-incongruent psychotic depression.

dopamine transporter

psychotic depression

dopamine transporter

psychotic depression


Input: In addition, we found that in a transient forebrain ischemia model, PEP-1-PRX2 inhibited the activation of astrocytes and microglia in the CA1 region of the hippocampus and lipid peroxidation and also prevented neuronal cell death against ischemic damage.

ischemia


Input: We first analyzed methylation of the RASSF2 and SFRP2 gene promoters from 788 primary gastric and colorectal tissue specimens to determine whether methylation patterns could act as stage-dependent biomarkers of gastrointestinal tumorigenesis.

SFRP2 gene

tumorigenesis


Input: To study endocrine gland-derived vascular endothelial growth factor (EG-VEGF), prokineticin receptor (PROKR) 1, and PROKR2 variants in the coding regions of idiopathic recurrent miscarriage (RM) patients and further evaluate gene-gene interactions of these three genes.

recurrent miscarriage


Input: Sixty-two colorectal polyps--37 adenomatous polyps, 23 hyperplastic polyps, and 2 sessile serrated polyps (SSP)--from 34 subjects with germline MMR gene mutations were tested for MSI using a single pentaplex PCR for five mononucleotide repeat microsatellite markers, and also for expression of MLH1, MSH2, MSH6, and PMS2 proteins by immunohistochemistry.

polyps


Input: High-resolution array Comparative Genomic Hybridisation profiling of 53 familial (21 BRCA1, 6 BRCA2 and 26 non-BRCA1/2) and 15 sporadic tumours in combination with supervised and unsupervised analysis was used to define common and/or specific copy number features.

sporadic


Input: It is concluded that FSH gene variants showed no difference in distribution between fertile or infertile OAT men.

OAT

infertile


Input: Genetic polymorphisms of inflammatory response gene TNF-α and its influence on sporadic pancreatic neuroendocrine tumors predisposition risk.

TNF-α

sporadic


Input: Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM 239850) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly).

MIM

hypertrichotic osteochondrodysplasia


Input: These data are, to our knowledge, the first to describe the loss of p130 as a consequence of a genetic alteration, suggesting that not only pRB but also the other members of the family may contribute to tumorigenesis, providing a rationale for the observation that the DNA tumor viruses selectively target all the members of the retinoblastoma protein family.

tumorigenesis


Input: Putting these findings in the context of other work in this field, we conclude that subjects with leprechaunism or Rabson-Mendenhall syndrome have a high probability of having a missense or nonsense insulin receptor mutation.

insulin receptor

Rabson-Mendenhall syndrome

insulin receptor

Rabson-Mendenhall syndrome


Input: In addition, NECs from smokers cultured alone had increased influenza-induced concentrations of the Th2 chemokine thymus and activation-regulated chemokine (TARC).

TARC

influenza


Input: An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.

keratin 1

bullous congenital ichthyosiform erythroderma

keratin 1

bullous congenital ichthyosiform erythroderma


Input: CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

CD40 ligand

X-linked hyper-IgM syndrome

CD40 ligand

X-linked hyper-IgM syndrome


Input: The expression of LSD1 which mainly located in nuclei of cancer cells significantly increased in bone marrows of bone cancer pain rats from 14 d to 21 d after inoculation.

bone cancer


Input: We demonstrate the responsibility of human & lt; i & gt; NLRP1 & lt;/i & gt; in a novel autoinflammatory disorder that we propose to call NAIAD for & lt; i & gt; NLRP1-& lt;/i & gt; associated autoinflammation with arthritis and dyskeratosis.

autoinflammation with arthritis and dyskeratosis

autoinflammation with arthritis and dyskeratosis


Input: Those tested positive for the latter were evaluated for conventional thrombophilic factors, activity levels of protein C and protein S, antithrombin III levels, plasma homocysteine levels and presence of activated protein C resistance, lupus anticoagulant, methylenetetrahydrofolate reductase (MTHFR C677T) and prothrombin G20210A polymorphisms.

MTHFR

lupus anticoagulant


Input: In particular, 14 epidemiologic studies have tended to show positive associations with long-term smoking among NAT2 slow acetylators, especially among postmenopausal women.

smoking


Input: To test this hypothesis, we examined protein expression of excitatory amino acid transporter 1-3 and vesicular glutamate transporter 1 and 2 in subjects with schizophrenia (n = 23) and a comparison group (n = 27).

vesicular glutamate transporter 1

schizophrenia

vesicular glutamate transporter 1

schizophrenia


Input: Both FRA-1 and PBX1 are required for the mesenchymal changes triggered by PREP1 in lung tumor cells.

lung tumor


Input: It is not known whether recombinant human erythropoietin has a direct, clinically apparent pressor effect in hemodialysis patients or whether hypertension developing or aggravated in these patients merely reflects increased hematocrit.

erythropoietin

hypertension

erythropoietin

hypertension


Input: Analysis of BAL fluid and histology show that pulmonary fibrosis is unaltered, but Fgf2 (-/-) mice fail to efficiently resolve inflammation, have increased BAL cellularity, and, importantly, deficient recovery of epithelial integrity.

inflammation


Input: The inv (11) (p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts.

chromosome translocation


Input: The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscle involvement.

plectin

plectin


Input: We have in this study analyzed T-cell receptor (TCR) variable region (V) gene usage by CD4 + and CD8 + lung and peripheral blood T cells of 29 sarcoidosis patients and 15 control subjects.

sarcoidosis


Input: Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin.

sorcin

malignant glioma


Input: Anyway, this preliminary retrospective analysis does not support the hypothesis that the investigated AR polymorphism has a major modifying effect on adiponectin or resistin serum levels in patients with alcoholism.

AR

alcoholism

AR

alcoholism


Input: In analyses of gastric cancer cell lines, human tissue samples, and mouse models, we found AURKA to be up-regulated during chronic inflammation to promote activation of NF-κB and tumorigenesis.

AURKA

tumorigenesis


Input: Major gene families implicated in malignancy by over-expression in carcinomas included the annexins (annexin A1 and A4) and Stat family of transcription factors (Stat3 and Stat5a).

carcinomas

carcinomas


Input: Molecular screening of the microsomal triglyceride transfer protein: association between polymorphisms and both abdominal obesity and plasma apolipoprotein B concentration.

apolipoprotein B

abdominal obesity


Input: ACTG2 encodes & #947; 2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.

MMIHS

MMIHS


Input: Our findings show that proinflammatory cytokines stimulate the biliary epithelium to generate NO, via NOS2 induction, and that NO causes ductular cholestasis by a RNOS-mediated inhibition of AC and of cAMP-dependent HCO (3) (-) and Cl (-) secretory mechanisms.

cholestasis

cholestasis


Input: Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.

multiple intestinal atresia

multiple intestinal atresia


Input: Subsequent investigation revealed that T lymphoma invasion and metastasis 1 (TIAM1) was a direct and functional target of miR-377 in HCC cells.

HCC

lymphoma


Input: Heme oxygenase-1 protects rat liver against warm ischemia/reperfusion injury via TLR2/TLR4-triggered signaling pathways.

ischemia/reperfusion injury

ischemia/reperfusion injury


Input: The most common EZN-4176-related toxicities (all grades) were fatigue (59%), reversible abnormalities in liver function tests ALT (41%) and AST (41%) and infusion-related reactions including chills (36%) and pyrexia (14%).

AST

chills


Input: Abnormalities of p51, p53, FLT3 and N-ras genes and their prognostic value in relapsed acute myeloid leukemia.

acute myeloid leukemia


Input: In this study 12 patients with FAD (M age = 49. 61 years, SD = 4. 99), 10 patients with sporadic Alzheimer' s disease (SAD) (M age = 71. 40, SD = 10. 00), and 15 matched normal controls (M age = 45. 01, SD = 7. 24) were selected.

FAD

sporadic


Input: The role of the NF2 gene in the development of meningiomas has recently been documented; inactivating mutations plus allelic loss at 22q, the site of this gene (at 22q12), have been identified in both sporadic and neurofibromatosis type 2-associated tumors.

NF2 gene

sporadic


Input: Amelioration of TGF-alpha-dependent pulmonary lesions in SP-C-EGF-R-M mice or wa-2/wa-2 mice supports the concept that autocrine and paracrine signaling mediate fibrosis and airspace remodeling caused by TGF-alpha.

EGF

fibrosis


Input: BWMI patients showed abnormalities of carbohydrate, but not of NEFA, metabolism compared with white control subjects.

NEFA

abnormalities


Input: In a secondary analysis of these 6 genes among parent-proband trios with a history of psychosis, evidence of the association with SIAT4A was strengthened.

psychosis

psychosis


Input: Increasing omega-3 index was correlated with higher insulin sensitivity (r = 0. 23; p = 0. 025), higher disposition index (r = 0. 20; p = 0. 054), and lower CRP concentrations (r =-0. 39; p < 0. 0001).

CRP

insulin sensitivity


Input: KCa3. 1 inhibition switches the phenotype of glioma-infiltrating microglia/macrophages.

KCa3. 1

glioma


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

atopy


Input: CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis.

tumorigenesis


Input: Odds ratios (ORs) and 95% confidence intervals (95% CIs) for the joint association of NAT2 with smoking on breast cancer risk were estimated using logistic regression.

smoking


Input: BRAF mutation correlates with recurrent papillary thyroid carcinoma in Chinese patients.

BRAF

papillary thyroid carcinoma

BRAF

papillary thyroid carcinoma


Input: Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait.

Romano-Ward syndrome

Romano-Ward syndrome


Input: In HDGC families lacking CDH1 mutations, testing of CTNNA1 and other tumor suppressor genes should be considered.

HDGC

HDGC


Input: The t (6; 8) (q27; p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.

myeloproliferative disorder


Input: Furthermore, the cell invasion, migration and adhesion capabilities were decreased after inhibition of MTA1 expression mediated by Mta1-siRNA transfection in SiHa.

adhesion


Input: These findings suggest that SE may induce impairments of astroglial AQP4 functions via disruption of the dystrophin/& #945;-syntrophin complex that worsen vasogenic edema.

dystrophin

SE

dystrophin

SE


Input: Therefore, we assumed that RhoE might play an important role in gastric cancer metastasis.

RhoE

gastric cancer


Input: Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Autosomal dominant hypophosphataemic rickets

Autosomal dominant hypophosphataemic rickets


Input: The present study represents the first report on the expression of both HOXB2 and HOXB13 proteins through cervix tumorigenesis, providing evidence that increased expression of such proteins is a common event during progression to CeCa.

tumorigenesis


Input: The introduction of the Fgfr3 mutations resulted in no obvious effect on tumorigenesis up to 18 months of age.

tumorigenesis


Input: This deficit in alveolar leukocyte recruitment was also observed in LysM-Adam10 (-/-) mice lacking ADAM10 in myeloid cells and correlated with protection against edema formation.

edema


Input: DDR1 deletion protected NTS-treated mice against glomerular disease (proteinuria/creatininuria 5. 5 ± 1. 1 vs. 13. 2 ± 0. 8 g/mmol in WT, crescents 12 ± 2 vs. 24 ± 2% of glomeruli, urea 16 ± 2 vs. 28 ± 5 mM), hypertension (123 ± 11 vs. 157 ± 8 mmHg), and premature death (70 vs. 10% survival) (all P < 0. 05).

proteinuria


Input: Novel LMNA gene mutation in a patient with Atypical Werner' s Syndrome.

LMNA

Atypical Werner' s Syndrome

LMNA

Atypical Werner' s Syndrome


Input: To evaluate the clinical relevance of SNCG expression in breast cancer progression and its correlation with clinical parameters, we analyzed SNCG expression in 79 clinical breast specimens from primary breast cancer, hyperplasia, and fibroadenoma patients by reverse transcription-PCR.

SNCG

hyperplasia


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

ETAR

OC

ETAR

OC


Input: Eighteen goblet cell carcinoids (GCCs) and 20 classic carcinoids were stained with CK19, CD99, and Ki-67, and these results were correlated with known pathological features of aggression: extent of invasion, mitoses, necrosis, and histological pattern.

aggression


Input: Intraperitoneal injection of 6 microg Abeta (1-40) into 18-days-old rat fetuses (approximately 3 g body weight) resulted after 24 h in the appearance of the peptide in various fetal organs including brain where it enhanced the levels of glutathione (GSH), glutathione reductase, glutathione peroxidase, and stimulated the levels of pro-survival signaling activities such as Akt serine/threonine kinase, extracellular signal-regulated kinase (ERK) and protein kinase C enzymes.

ERK

body weight


Input: This latter feature would predispose p73 to gene inactivation because a single genetic' hit' or the loss of the expressed parental allele would leave the cell without p73 activity.

hit


Input: Expression of cS5-F also prevented involution and caused the formation of estrogen and progesterone receptor positive (ER (+) PR (+)) adenocarcinomas.

adenocarcinomas

adenocarcinomas


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

prostate cancer


Input: OAS1 rs2660 may be a prostate cancer susceptibility polymorphism, which is a significant observation, especially in a context of the OAS1-RNaseL pathway.

prostate cancer susceptibility


Input: This study included 122 sporadic colorectal cancers from three different age groups and analyzed mutation frequencies of adenomatous polyposis coli (APC), K-ras, and p53 genes and microsatellite instability to determine their mutation frequencies and relationships with clinicopathological features.

p53 genes

sporadic


Input: Stably transfected Chinese hamster ovary (CHO) fibroblast and U373 astrocytoma cell lines expressing membrane-anchored LBP (mLBP), as well as separate CHO and U373 cell lines expressing membrane CD14 (mCD14), were subsequently generated.

astrocytoma


Input: Increased hypermethylation of glutathione S-transferase P1, DNA-binding protein inhibitor, death associated protein kinase and paired box protein-5 genes in triple-negative breast cancer Saudi females.

DNA-binding protein

triple-negative breast cancer


Input: Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

schizencephaly


Input: These findings suggest that membrane-expressed SEA by adenovirus from AdAFPSEA can generate stronger local and systemic antitumor responses against HCC.

HCC

adenovirus


Input: Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer.

tensin

cancer


Input: We refer to the phenotype caused by the Lys650Met mutation as " severe achondroplasia with developmental delay and acanthosis nigricans " (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.

severe achondroplasia with developmental delay and acanthosis nigricans

severe achondroplasia with developmental delay and acanthosis nigricans


Input: In human cAF modifications in transcriptional and posttranscriptional mechanisms of HCN channels occur, associated with a slight yet significant gain-of-function of If, which may contribute to enhanced atrial ectopy.

HCN

atrial ectopy


Input: The results were that cardiomyocytes, exposed to 25 mM glucose for 48 h, showed cellular hypertrophy and augmented mRNA expression of ANP, BNP, and ANG, molecular markers of cardiac hypertrophy.

ANG

cardiac hypertrophy


Input: We postulated that mutations in writers of these two chromatin marks could cause overgrowth conditions, resembling Sotos or Weaver syndromes, in patients with no NSD1 or EZH2 abnormalities.

abnormalities


Input: Genetic variants of IL-13 signalling and human asthma and atopy.

atopy


Input: FBI-1/OCZF/LRF regulates osteoclast formation and apoptosis in vivo, and may become a useful marker and target in treating disorders leading to reduced bone density, including chronic arthritis.

LRF

bone density


Input: Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice.

apolipoprotein E

lipoprotein glomerulopathy

apolipoprotein E

lipoprotein glomerulopathy


Input: TSPO expression is induced in adult dorsal root ganglion (DRG) sensory neurons after peripheral nerve injury and a TSPO receptor ligand, Ro5-4864, enhances DRG neurite growth in vitro and axonal regeneration in vivo.

DRG

axonal regeneration


Input: The thrombopoietin/MPL/Bcl-xL pathway is essential for survival and self-renewal in human preleukemia induced by AML1-ETO.

ETO

preleukemia


Input: Silencing MTA1 by RNAi reverses adhesion, migration and invasiveness of cervical cancer cells (SiHa) via altered expression of p53, and E-cadherin/β-catenin complex.

adhesion


Input: Overexpression of transforming growth factor (TGF)-α in the lung epithelium of transgenic mice causes a progressive pulmonary fibrosis associated with increased MEK/ERK activation localized primarily in mesenchymal cells.

ERK

pulmonary fibrosis


Input: Furthermore, these data point towards a possible predictive impact of EFEMP1 expression in primary breast cancer.

breast cancer

breast cancer


Input: Thus, (a) human breast carcinoma cell surface-associated MT1-MMP, via activating proMMP-2, stimulates TCIPA; (b) ADP amplifies the effects of MMPs via stimulation of P2Y (12) receptors and (c) both tumour-and platelet-derived GPIb and GPIIb/IIIa are involved in the aggregatory effects of MT1-MMP.

ADP

tumour


Input: The HER2 gene, which encodes the growth factor receptor HER2, is amplified and HER2 is overexpressed in 25 to 30 percent of breast cancers, increasing the aggressiveness of the tumor.

aggressiveness


Input: Y chromosome binary polymorphisms on the non-recombining Y (NRY) region, believed to be a single occurrence on an evolutionary scale, were typed in a sample of fertile and infertile men with known DAZ backgrounds.

DAZ

infertile


Input: Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

interleukin-2 receptor gamma

X-linked severe combined immunodeficiency

interleukin-2 receptor gamma

X-linked severe combined immunodeficiency


Input: NSC patients in substantial proportion harbour mutations in DCDC2.

NSC

NSC


Input: The A allele of the TNF-alpha-308G > A gene polymorphism and the presence of α2-thal3. 7 kb were associated with an increase risk of splenic sequestration events (p =. 001; p =. 046), while the T allele of the IL-8-251A > T gene polymorphism was considered to be a protective factor for splenomegaly events (p =. 032).

TNF-alpha

splenic sequestration


Input: In this work, we analyzed the association of SNPs in P53 (rs1042522), MDM2 (rs2279744), MDM4 (rs1380576) and Hausp (rs1529916) genes with gastric cancer in a hospital-based Chinese Han population (642 cases and 720 cancer-free controls).

Hausp

gastric cancer


Input: Caveolin-1 (CAV1) is the main protein in the caveolin family and plays an important role in tumorigenesis signaling.

tumorigenesis


Input: No significant association was found between atherosclerosis and four polymorphisms of the PON gene cluster (PON1-108C/T, PON1 Q192R, PON2 A148G, PON2 C311S).

PON

atherosclerosis

PON

atherosclerosis


Input: Furthermore, SIOD patient fibroblasts reconstituted with SMARCAL1 exhibit faster cell cycle progression after S-phase arrest.

SIOD

SIOD


Input: We analyzed the segregation of the ApoE and ACT polymorphism in sporadic and familial AD patients.

ACT

sporadic


Input: Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.

T gene

familial hypertrophic cardiomyopathy


Input: The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.

smoking


Input: We describe a patient with partial dexamethasone suppression consistent with Cushing' s disease, an absent response to CRH suggesting ectopic ACTH production and an atypical, apparent circadian rhythm.

CRH

circadian rhythm


Input: The PTEN mutation carriers were obese as compared with population-based controls (mean body-mass index [the weight in kilograms divided by the square of the height in meters], 32 [range, 23 to 42] vs. 26 [range, 15 to 48]; P < 0. 001).

PTEN

height


Input: Niemann-Pick C disease (NPC) is a vesicular trafficking disorder primarily caused by mutations in the Npc1 gene and characterized by liver dysfunction and neuropathology.

liver dysfunction

liver dysfunction


Input: Here we report two sporadic cases of Gitelman' s syndrome and two novel genotypes of SLC12A3.

Gitelman' s syndrome

Gitelman' s syndrome


Input: The BCL10 gene was identified at the breakpoint region of the t (1; 14) (p22; q32) translocation in mucosa-associated lymphoid tissue lymphoma.

mucosa-associated lymphoid tissue lymphoma


Input: In addition, deregulated HSET protein expression was associated with gene amplification and/or translocation.

HSET

translocation


Input: One SNP (located in the CAPN 13 gene, rs1879282) passed adjustments for the multiple testing mentioned above and had a significant (p <. 01) gene-BMI interaction on both systolic blood pressure (SBP) and diastolic blood pressure (DBP) among African American female offspring.

DBP

systolic blood pressure


Input: In multivariable logistic regression analysis including skin type, eye and hair color, number of nevi, and dorsal lentigines (freckles), the association between EDNRB mutations and MM risk remained statistically significant (OR = 19. 9, 95% CI = 1. 34 to 296. 2; P =. 03).

EDNRB

freckles


Input: Autotaxin immunohistochemical staining was also increased in benign neoplasms with leukocytic infiltrations.

Autotaxin

benign neoplasms


Input: Blood samples were available from four patients with CFD and seven unaffected relatives, and the DNAs were subjected to molecular screening of the phosphoinositide kinase, five finger-containing (PIKFYVE) gene by direct sequencing or denaturing high performance liquid chromatography (DHPLC).

PIKFYVE

CFD

PIKFYVE

CFD


Input: Koreans have a higher frequency of the hepatic lipase gene 514T allele than Caucasians, and the-514T allele is associated with higher plasma HDL-C levels in Korean women, and perhaps non-smoking men.

hepatic lipase

smoking


Input: The risk profile of advanced atherogenesis further includes cigarette smoking, high lipoprotein (a), the factor V Leiden mutation, low antithrombin III, high fibrinogen, and diabetes.

antithrombin III

fibrinogen


Input: Overall, the strong inhibition of MMP expression by Rh2 might provide a potential therapeutic modality for brain tumors.

brain tumors


Input: Infusion of antiserum against salusin-β attenuated the induction of VCAM-1, monocyte chemoattractant protein (MCP)-1, and IL-1β and as well as nuclear translocation of NF-κB in aortic endothelial cells (ECs) of LDL receptor-deficient mice, which led to the prevention of monocyte adhesion to aortic ECs.

NF-κB

adhesion


Input: p53, Bcl-2, Bcl-XL, Bax and Mdm2 mRNA expression patterns were evaluated in tissue samples with cervical intraepithelial neoplasia (CIN) and cervical cancer compared to those of normal cervical tissues, and correlated with the underlying cervical lesions.

Bcl-XL

cervical cancer


Input: Blood samples from 132 unrelated Sbeta +-thalassaemia patients attending the MRC Sickle Cell Unit at the University of the West Indies were analysed by amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) or sequencing to determine the nature and frequencies of the underlying beta-thalassaemia mutations.

MRC

thalassaemia


Input: Leukemia cells with low levels of MSH2 contained partial or complete somatic deletions of one to four genes that regulate MSH2 degradation (FRAP1 (also known as MTOR), HERC1, PRKCZ and PIK3C2B); we also found these deletions in individuals with adult acute lymphoblastic leukemia (16%) and sporadic colorectal cancer (13. 5%).

sporadic


Input: We analyzed the L-2-HGA gene (L2HGDH), recently found to be mutated in consanguineous families with L-2-HGA, and identified seven novel mutations in 15 families.


Input: The expression of alpha-smooth muscle actin (alpha-SMA), vimentin, and zona occludens (ZO)-1 were examined via PCR, Western blot analysis, and immunofluorescence.

smooth muscle actin

zona


Input: Positive 14-3-3sigma protein expression (> 30% of tumor cells) was observed in 67. 7% (63/93) of cases of intrahepatic cholangiocarcinoma and was inversely correlated with cyclin B1 expression.

cyclin B1

intrahepatic cholangiocarcinoma


Input: We assessed TWEAK and its receptor Fn14 expression in response to angiotensin (Ang) II, myocardial infarction (MI) as well as to local adenovirus-mediated p38 gene transfer in vivo.

adenovirus


Input: In support of this notion, the loss of glioma cell survival upon APPL2 knockdown can be rescued either by an excess of netrin-1, the prosurvival ligand of UNC5B or by simultaneous silencing of HRK.

glioma


Input: For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 or Irf9 have defects in the immune response but show no embryologic abnormalities.

abnormalities


Input: We did not observe significant differences in MnSOD, GSTM1 and GSTP1 genotypes distribution according to CIMT, plaque type or plaque score.

plaque


Input: These abnormalities include alterations that encompass novel candidate genes such as SNTG2, SOX5, HFE, and TRIP38.

abnormalities


Input: (Very) severe acquired aplastic anemia ((v) SAA) and myelodysplastic syndrome (MDS) are rare diseases in childhood.

SAA

aplastic anemia


Input: The results showed that variants of DICER1 and DROSHA may modify the risk of abnormal semen parameters, which could result in male infertility.

DROSHA

male infertility

DROSHA

male infertility


Input: The reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation.

RPE

secondary


Input: To determine whether the association between family history of diabetes (FHD) and impaired fasting glucose (IFG) is independent of body mass index (BMI) in children and adolescents.

IFG

body mass index


Input: Mammaglobin B expression was evaluated by real-time PCR and/or immunohistochemistry in fresh-frozen biopsies and paraffin-embedded tissues derived from a total of 137 patients including 69 primary EOC with different histologies, 28 serous papillary omental metastasis, 8 borderline tumors, 26 benign cystadenomas and 14 normal ovaries.

Mammaglobin B

tumors


Input: The RAGE levels in the pulmonary edema fluid from patients with ALI were higher than the levels from patients with hydrostatic pulmonary edema (p < 0. 05), and the plasma RAGE level in patients with ALI were significantly higher than the healthy volunteers (p < 0. 001) or patients with hydrostatic pulmonary edema (p < 0. 05).

RAGE

pulmonary edema


Input: Similarly, we recently discovered that genetic variation in components of the stress-related hypothalamic pituitary adrenocortical axis, T-box 19 and corticotropin releasing hormone receptor 1, showed association and linkage to high anger/hostility in and male depression the suicidal offspring, respectively.

T-box 19

depression

T-box 19

depression


Input: After intravenous inoculation of 5 x 10 (7) RS4; 11 leukemia cells, the median survival times were 41 days for saline-treated control mice (n = 12), 44 days for control mice treated with unconjugated B43 monoclonal antibody and PAP (n = 12), 56 days for mice treated with the control immunotoxin G17. 2 (anti-CD4)-PAP (n = 6), 79 days for B43-PAP-treated test mice (n = 12), and 80 days for cyclophosphamide-treated test mice (n = 16).

leukemia


Input: Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

dysferlin

limb-girdle muscular dystrophy type 2B

dysferlin

limb-girdle muscular dystrophy type 2B


Input: Debris (termed drusen) below the retinal pigment epithelium (RPE) have been recognized as a risk factor for dry AMD and its progression to wet AMD, which is characterized by choroidal neovascularization (CNV).

RPE

choroidal neovascularization


Input: A total of 16 TC, 13 AC, 16 large cell neuroendocrine carcinomas and 15 small cell lung cancer were investigated for the mRNA expression of 11 transcription factors and related genes (MYB, MYBBP1A, OCT4, PAX6, PCDHB, RBP1, SDCBP, SOX2, SOX4, SOX11, TEAD2).

small cell lung cancer


Input: Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.

Hailey-Hailey disease

Hailey-Hailey disease


Input: These studies suggest that up-regulation of Nek2 is a frequent event in human seminomas and that this may participate in the onset or progression of neoplastic transformation through deregulation of centrosome duplication and/or nuclear events in germ cells.

neoplastic transformation


Input: The human QKI gene, called quaking homolog, KH domain RNA binding (mouse), is a candidate gene for schizophrenia encoding an RNA-binding protein.

RNA-binding protein

schizophrenia


Input: Nucleotide sequence analysis was performed on all coding exons and exon-intron borders of GCMB in 30 sporadic parathyroid adenomas and we identified several known polymorphisms that were either heterozygous or homozygous.

GCMB

sporadic


Input: Hematopoietic cell transplantation (HCT) from an HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 allele-matched unrelated donor is a well-recognized life-saving treatment modality for patients with hematologic disorders.

hematologic disorders


Input: Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46, XY duplicated persons were completely normal and fertile whereas the 46, XX ones were males who came to clinical attention because of infertility.

infertility


Input: Cells from 40 probands (group A) secreted about half the normal amount of normal type I procollagen and no identifiable abnormal molecules; these patients were generally of normal stature, rarely had bone deformity or dentinogenesis imperfecta, and had blue sclerae.

type I procollagen

bone deformity


Input: Mutations in COL8A2 gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD).

VIII

sporadic


Input: Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type


Input: Our study suggests that the effect of dietary selenium on the risk of ESCC may be modulated by tobacco smoking, alcohol drinking, and p53 Pro/Pro and GSTP1 Ile/Ile genotypes.

alcohol drinking


Input: Our data identified HIF-1α as a regulator of CD44 that increased the number of CD44 molecules and the percentage of CD44 positive cells expressing variant exons v6 and v7/8 in breast cancer cells under hypoxic conditions.

hypoxic


Input: The association between Hp1 and lacunar stroke suggests that Hp may serve different functions depending on the pathological processes in various types of vascular disease in different organs.

vascular disease


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

LEPR

height


Input: All 4, 880 ketosis-free diabetic patients (< 1 year postdiagnosis, without insulin therapy for > 6 months, aged ≥ 30 years) had GAD antibody (GADA) and HLA-DQ genotype measured centrally with clinical data collected locally.

HLA-DQ

ketosis


Input: In the present study, we have performed the experiments to test the hypothesis that histone H3K14 acetylation is the key role in the fetal heart leads to over-expression of cardiac specific genes DHAND and EHAND caused by prenatal alcohol exposure.

EHAND

prenatal alcohol exposure

EHAND

prenatal alcohol exposure


Input: We analyzed the correlation between osteoporosis and carotid atherosclerosis (CA) by exploring the effects of ApoE gene polymorphisms on bone mineral density (BMD) of the lumbar spine and CA.

ApoE gene

bone mineral density


Input: In diabetic patients, GSTT1-null conferred higher levels of triglycerides and VLDL-cholesterol, while GSTM1-null was associated with increased levels of fasting blood glucose, glycated hemoglobin and blood pressure.

hemoglobin


Input: IL-4 increases type 2, but not type 1, cytokine production in CD8 + T cells from mild atopic asthmatics.

mild


Input: We also found that the interaction between RIP3 and MLKL is required for the translocation of necrosomes to mitochondria-associated membranes.

translocation


Input: We performed extensive mutation analyses of PINK1 in 414 PD patients negative for parkin mutations (mean [SD] age at onset, 42. 8 [14. 3] years), including 391 unrelated patients (190 patients with sporadic PD and 201 probands of patients with familial PD) from 13 countries.

sporadic


Input: Loss of VHL E3 ubiquitin ligase function results in accumulation of the alpha-subunit of the hypoxia-inducible heterodimeric transcription factor (HIF-alpha) and transcription of an array of genes including vascular endothelial growth factor, transforming growth factor-alpha, and erythropoietin.

E3 ubiquitin ligase

hypoxia


Input: In this study, we hypothesized that sestrin2 may protect hippocampal CA1 neurons against transient global ischemia (TGI)-induced apoptosis by regulating RpS6 phosphorylation in rats.

ischemia


Input: Serum CRP level was positively correlated with BMI (r = 0. 494, p = 0. 000), waist: hip ratio (r = 0. 451, p = 0. 000), testosterone (r = 0. 214, p = 0. 032), homeostasis model assessment of insulin resistance (HOMA-IR; r = 0. 617, p = 0. 000) and MCP-1 (r = 0. 219, p = 0. 027), and negatively correlated with HDL-C (r =-0. 209, p = 0. 035).

CRP

insulin resistance


Input: Thus, the in vivo treatment with DAC can significantly promote the development of natural thymic CD4 (+) CD25 (+) Foxp3 (+) Treg cells through Foxp3 demethylation, implicating a therapeutic application of DAC in patients suffering from autoimmune diseases.

DAC

autoimmune diseases


Input: While suggesting involvement of other genes in a substantial part of sporadic RER + colorectal carcinomas, our results also demonstrate a clear role of MSH2 and MLH1 in these sporadic tumors and show that young sporadic RER + colorectal carcinoma patients have a high probability of germline mutations.

sporadic


Input: In vitro, endothelial loss of Tie2 was observed upon lowering of shear stress, not upon LPS and TNF-α stimulation, suggesting that inflammation related haemodynamic changes play a major role in loss of Tie2 in vivo, as also hemorrhagic shock induced Tie2 mRNA loss.

inflammation


Input: Heparin-induced thrombocytopenia/thrombosis in a transgenic mouse model requires human platelet factor 4 and platelet activation through FcgammaRIIA.

platelet factor 4

thrombosis

platelet factor 4

thrombosis


Input: Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

X-linked myotubular myopathy

X-linked myotubular myopathy


Input: The frequencies of p27 (Kip1) downregulation and Skp2 overexpression in borderline CCAFs were significantly lower than those in atypical endometriosis components in endometriosis-associated CCAs (P < 0. 05, respectively).

atypical endometriosis


Input: Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly.

DSC

enchondroma


Input: The aim of our study was to ascertain whether the overexpression of human LPL in skeletal muscle leads to insulin resistance and to investigate the mechanism.

LPL

insulin resistance


Input: Since YY1 is a direct target of miR-34a, the low level of miR-34a increased the expression of YY1, promoting the aggressiveness of RCC cells.

aggressiveness