Input: The men with the CC genotype also showed significantly lower body mass index (BMI), serum sex hormone binding globulin (SHBG), estradiol, total alkaline phosphatase-(total AP) and bone alkaline phosphatase (bone AP) levels and significantly higher free androgen index (FAI).

SHBG

body mass index


Input: In addition, hypoxia and its mediator hnRNPL upregulated DGK-α and buffered the cytotoxic effects of miR-297.

DGK-α

hypoxia


Input: A homozygous nonsense mutation (p. Glu38X) was identified in CAV1 in a patient with BSCL born from a consanguineous union.

BSCL

BSCL


Input: The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P).

SACS

ARSACS

SACS

ARSACS


Input: These results demonstrate an association of decreased postheparin LPL activity with low plasma adiponectin that is independent of systemic inflammation and insulin resistance.

LPL

insulin resistance


Input: PRP NPY-ir levels correlated with lesion area (p = 0. 03), necrotic core area, and the necrotic core-to-lesion area ratio (p < 0. 01) in male, but not female, mice.

NPY

necrotic


Input: Couples with RT may benefit from PGD; pregnancy success rate is improved and embryo loss reduced.

PGD

embryo loss


Input: In univariate analysis, CK-14 was significantly associated with tumours from BRCA1 (39%; P < 0. 0005), BRCA2 (27%; P = 0. 011), and non-BRCA1/BRCA2 (21%; P < 0. 005) families, as compared with sporadic tumours (10%).

sporadic


Input: Nevertheless, it remains to be evaluated whether PINK1 variations contribute to the risk of common late onset sporadic PD.

sporadic


Input: Although it is possible that these cases contained cryptic rearrangements of EWSR1 or FUS that were not detectable by our FISH probes, it also raises the possibility that another translocation/gene fusion may be present in angiomatoid fibrous histiocytoma.

FISH

angiomatoid fibrous histiocytoma


Input: Thus, morgana/chp-1 appears to prevent both centrosome amplification and tumorigenesis.

tumorigenesis


Input: A number of microRNAs have been demonstrated to function as protectors against ischemia-reperfusion (I/R) and/or hypoxia-reperfusion (H/R)-induced myocardial injury, including microRNA-21 (miR-21).

hypoxia


Input: Growth factors, hypoxia and co-culture with nucleus pulposus (NP) cells induce MSCs to differentiate toward an NP-like phenotype, which can increase the number of functional cells in the IVD or enhance the function of endogenous disc cells to facilitate IVD regeneration.

IVD

hypoxia


Input: Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (& lt; i & gt; PHIP & lt;/i & gt;) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features.

pleckstrin homology domain-interacting protein

intellectual disability

pleckstrin homology domain-interacting protein

intellectual disability


Input: Enriched housing after stroke also leads to a significant loss of perineuronal net (PNN) immunoreactivity; detection of aggrecan protein backbone with AB1031 antibody was decreased by 13-22%, and labelling of a glycan moiety of aggrecan with Cat-315 antibody was reduced by 25-30% in the peri-infarct area and in the somatosensory cortex, respectively.

PNN

infarct


Input: Therefore, inflammation, antitumor immunity, and the clinical outcome of cancer patients are influenced by a common TLR5 polymorphism.

inflammation


Input: Calpain 2 is a calcium-dependent intracellular protease that regulates adhesion turnover and disassembly through the targeting of specific substrates such as talin.

Calpain 2

adhesion


Input: Therefore, this study aimed to investigate possible alterations in the expression of ER & #945; (ESR1) and ER & #946; (ESR2) in the epididymal region of roosters affected by epididymal lithiasis.

lithiasis

lithiasis


Input: Immunophenotyping of leukemia cells revealed either CD3 + CD4 + CD8-CD25 + or CD3 + CD4 + CD8 + CD25 +.

leukemia


Input: These cell lines secreted a chemotactic protein into the culture fluids under certain conditions of stimulation with phorbol-12-myristate 13-acetate (PMA), lipopolysaccharide, or hemagglutinin-P. A myeloid leukemia cell line, ML-1, secreted an inducible chemotaxin when stimulated with PMA (1 ng/ml) for 24 h. We purified the chemotaxin from ML-1 cell culture fluid using an improved procedure: concentration with DEAE-Sepharose CL-6B and CM-Sepharose CL-6B, CM-Sepharose column chromatography, and reverse-phase 5TMS-300 column on HPLC with the retention time coinciding with that of LUCT/IL-8 [Suzuki et al., 1989, J. Exp.

myeloid leukemia


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

Depression

Depression


Input: Survival and proliferation of cancer cells are often associated with hyperactivity of the serine/threonine kinase, Akt.

serine/threonine kinase

hyperactivity


Input: These results indicate that PC +/-mice subjected to this challenge displayed enhanced focal arterial inflammation and thrombosis, leading to larger neointimas and subsequent localized occlusion, as compared to their WT counterparts.

PC

arterial inflammation

PC

arterial inflammation


Input: Finally, we conclude that down-regulated expression of miR-143 and up-regulation of its direct target B7H1 may indicate a novel therapeutic method for radiation-induced thymic lymphoma by increased expression of miR-143 or inhibition of B7H1.

lymphoma

lymphoma


Input: Two commonly occurring polymorphisms of FMO3, E158K and E308G, have been associated with a reduction in polyp burden in patients with familial adenomatous polyposis who were treated with sulindac sulfide, an FMO3 substrate.

familial adenomatous polyposis

familial adenomatous polyposis


Input: Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation.

translocation


Input: Hepatitis B X-interacting protein (HBXIP) is an important oncoprotein in hepatocarcinogenesis.

HBXIP

hepatocarcinogenesis


Input: A new recurrent chromosomal translocation t (3; 11) (q13; q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene.

ILDR1 gene

chromosomal translocation


Input: Diabetes increased the expression and immunoreactivity of KIF1A and KIF5B in the hippocampus, but no alterations in dynein were detected.

Diabetes

Diabetes


Input: The prevalence of overweight in our cohort was higher than in general European population (31% vs 20%) and increased regardless of the use of CRT.

CRT

overweight


Input: UCP2, UCP3 long and short mRNA levels were examined in skeletal muscle and in white adipose tissue of lean, obese, and weight-reduced individuals by RNase protection assay.

weight


Input: The delayed-type hypersensitivity response to p53 was increased in mice immunized with p53 alone or p53 and Flt3L compared with a negative control.

delayed-type hypersensitivity response


Input: In the present study we sought to study the same (AAT) n-repeat microsatellite of the CNR1 gene which showed association to hebephrenic schizophrenia in Japan, and to investigate whether this microsatellite showed association to a hebephrenic type of schizophrenia in a family-based association study in a population of the Central Valley of Costa Rica.

AAT

hebephrenic schizophrenia


Input: To examine serum B-type natriuretic peptide (BNP) levels and BNP expression of protein and mRNA in the right ventricular myocardium in juvenile rats with right heart failure (RHF) and the effects of beta-adrenergic receptor blocker carvedilol on serum and myocardial BNP levels in order to investigate the role of BNP in the diagnosis and treatment of RHF.

beta-adrenergic receptor

right heart failure


Input: The TWEAK/Fn14 pathway contributed to cell death and interstitial inflammation during acute kidney injury, to glomerular injury in lupus nephritis, to hyperlipidemia-associated kidney injury, and to tubular cell hyperplasia following unilateral nephrectomy.

TWEAK

hyperplasia


Input: When wt (wild-type)-or mutated Dnase1 were added to cells after induction of necrosis, faster chromatin degradation occurred in the presence of mutant Dnase1.

necrosis


Input: However, germline CDH1 mutations have not been described in patients with LBC in non-HDGC families.

HDGC

HDGC


Input: Metaplasia in primary human small airway epithelial cells (SAEC) was induced by a Th2 cytokine, IL-13, without or with AR inhibitor, fidarestat.

Metaplasia

Metaplasia


Input: The exocrine pancreas can undergo acinar-to-ductal metaplasia (ADM), as in the case of pancreatitis where precursor lesions of pancreatic ductal adenocarcinoma (PDAC) can arise.

ADM

pancreatitis


Input: We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.

sitosterolemia

sitosterolemia


Input: Moreover, when ATF3 was overexpressed in mice via adenovirus-mediated gene transfer, ischemia-reperfusion injury was reduced.

adenovirus


Input: It is concluded that, analogous to the genetic events in a subset of schwannomatosis associated schwannomas, a four-hit mechanism of tumour suppressor gene inactivation, involving SMARCB1 and NF2, might be operative in familial multiple meningiomas associated meningiomas.

meningiomas

meningiomas


Input: To this end, we have tested pPNETs for the presence of EWS/FLI-1 fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) using EWS and FLI-1 specific primers.

pPNET

pPNET


Input: On a normal K (+) diet, homozygous kcne1 (-/-) mice exhibit signs of chronic volume depletion associated with fecal Na (+) and K (+) wasting and have lower plasma K (+) concentration and higher levels of aldosterone than wild-type mice.

volume depletion


Input: BRCA2-related tumors presented at the earlier age compared with sporadic tumors (P = 0. 005).

sporadic


Input: The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours.

neurofibromatosis type 1 gene

sporadic


Input: Small interfering RNA (siRNA) was used to suppress SPRY4-IT1 expression in renal cancer cell line 786-O.

renal cancer


Input: NO-mediated S-nitrosylation of PDI may be involved in the formation of the SOD1-linked ubiquitinated-protein aggregates in cerebral ischemia/reperfusion injury.

ischemia/reperfusion injury

ischemia/reperfusion injury


Input: Our TDT analysis clearly demonstrates a lack of association between the T allele of the C677T mutation in MTHFR and cardiovascular artery disease, both for the general group and for different risk subgroups (smokers, hypertension, male sex, overweight and type A behaviour pattern) in the Spanish population.

TDT

overweight


Input: Selumetinib plus dacarbazine versus placebo plus dacarbazine as first-line treatment for BRAF-mutant metastatic melanoma: a phase 2 double-blind randomised study.

BRAF

blind


Input: To assess whether treatment with troglitazone, a currently available thiazolidinedione used to treat diabetes mellitus, has an effect on psoriasis in normoglycemic patients and whether ligands for PPARgamma have an effect on models of psoriasis.

PPARgamma

psoriasis

PPARgamma

psoriasis


Input: We performed MCT8 mutation analysis including 13 XLMR families with LOD scores & gt; 2. 0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features.

AHDS

AHDS


Input: In untreated MDC subjects, intron 6 CC genotype carriers had higher diastolic blood pressure than carriers of the T allele (P = 0. 02) and exon 8 C allele carriers had higher systolic blood pressure than TT genotype carriers (P = 0. 05).

MDC

diastolic blood pressure


Input: On the contrary, activation of the KCNQ/M channels with retigabine not only inhibited the hyperexcitability of these small DRG neurons, but also alleviated mechanical allodynia and thermal hyperalgesia in bone cancer rats, and all of these effects of retigabine could be blocked by KCNQ/M-channel antagonist XE-991.

DRG

bone cancer


Input: CNS-1 is a highly invasive neural cell adhesion molecule (NCAM)-positive rat glioma that exhibits similarities in its pattern of infiltration to human gliomas.

NCAM

gliomas


Input: In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.

STS

obesity

STS

obesity


Input: Hepatic overexpression of miR-34a reduced NAMPT/NAD (+) levels, increased acetylation of the SIRT1 target transcriptional regulators, PGC-1 & #945;, SREBP-1c, FXR, and NF-& #954; B, and resulted in obesity-mimetic outcomes.

obesity

obesity


Input: Long-term clinical implications of embryonic stem cell markers such as Oct4 and Nanog have not been investigated in ST-elevation myocardial infarction (STEMI) patients.

myocardial infarction


Input: Recent studies have shown that overexpression of Heat Shock Factor (HSF) 1 in aneuploid tumor cells can overcome deficiencies in heat shock protein (HSP) 90-mediated protein folding and restore protein homeostasis.

HSF

aneuploid


Input: As one of the intercellular adhesion molecules, CD58 plays important roles in promotion of the adhesion between T cells and target cells, hyperplasia, activation of T cells and natural killer cells, and balance between Th1 and Th2.

adhesion


Input: This may reflect a disrupted functional interaction between NAAG and mGluR3 in CA3 in schizophrenia.

schizophrenia


Input: The results of this study showed that (a) three months after ileocolonic resection for Crohn' s disease the neoterminal ileal mucosa showed endoscopically new inflammation and had higher PLA2 activity than at the time of the operation (n = 8); no such findings were seen in controls (n = 7), (b) histologically normal ileal mucosa (n = 3) contained mRNA for three isoforms of PLA2 (PLA2-I, PLA2-II, and cPLA2), but the amounts of PLA2-II mRNA clearly exceeded the amounts of mRNA for PLA2-I and cPLA2, (c) ileal mucosa from Crohn' s patients (n = 2) contained higher values of PLA2-II mRNA than ileal mucosa from two controls, (d) ileal mucosa from Crohn' s patients (n = 4) showed increased PLA2-II mRNA three months after ileocolonic resection.

inflammation


Input: In the Chinese population, the frequencies of the ADH2 * 1 and ADH3 * 2 alleles were significantly higher in the alcoholic cirrhotic patients (53%; 23%) than in the viral hepatitis cirrhotics (32%; 8%) and the gastric and/or duodenal ulcer control patients (25%; 6%).

duodenal ulcer


Input: Here, we performed integrated in vivo and in vitro protocols that analyzed the association between Ala16Val-SOD2 polymorphism and prostate cancer aggressiveness at the time of diagnosis and evaluated the effect of the imbalance on PC proliferation using the DU-145 PC cell line treated with paraquat and porphyrin.

prostate cancer

prostate cancer


Input: The expression of CD30 in anaplastic large cell lymphoma is regulated by nucleophosmin-anaplastic lymphoma kinase-mediated JunB level in a cell type-specific manner.

JunB

large cell lymphoma


Input: In contrasts, in these animals, striatal RGS9-2 overexpression diminishes both the involuntary movement intensity and the anti-parkinsonian effects of the D2/D3 receptor agonist ropinirole.

involuntary movement


Input: The EWS gene, which encodes an RNA binding protein, was also shown to be involved in Ewing sarcoma, related primitive neuroectodermal tumors and desmoplastic small round cell tumors.

RNA binding protein

primitive neuroectodermal tumors


Input: Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as " animal-type melanoma " and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC).

PEM

blue nevus


Input: Cholecystokinin (CCK) gene as a possible risk factor for smoking: a replication in two independent samples.

CCK

smoking


Input: A recent genome-wide association study (GWAS) in the Swedish population has identified a susceptibility locus for cervical cancer within the HLA-DP region.

HLA-DP

cervical cancer


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

myocardial infarction

myocardial infarction


Input: In this work, we have analyzed two established body-cavity-based lymphoma or primary effusion lymphoma cell lines, BC-1 and BC-2, for the presence of intertypic EBV recombinants.

lymphoma


Input: We measured var mRNA transcript levels by real-time Q-PCR, analysed var gene transcripts by single-cell FISH and directly compared these with PfEMP1 antigen surface expression and cytoadhesion in three different antibody-selected P. falciparum 3D7 sub-lines using live confocal microscopy, flow cytometry and in vitro adhesion assays.

FISH

adhesion


Input: Disruption of prion protein-HOP engagement impairs glioblastoma growth and cognitive decline and improves overall survival.

HOP

cognitive decline


Input: Carotid artery balloon angioplasty upregulated vascular expression of NPY and its processing enzyme (DPPIV/cd26) and receptors (Y1, Y2, Y5 mRNA and protein) within 6 to 24 hours and stimulated neointima formation and accumulation of NPY in platelets after 14 days.

neointima formation


Input: hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.

colorectal cancer

colorectal cancer


Input: Concomitant loss of miR-15/miR-16 and gain of miR-21 aberrantly activate TGF-β and Hedgehog signaling, that mediate local invasion, distant bone marrow colonization and osteolysis by prostate cancer cells.

TGF-β

osteolysis


Input: The aim was to determine ApoE and G-308A TNF-α gene polymorphisms in unrelated Croatian Caucasians: 207 patients with sporadic AD, 196 T2D patients and 456 healthy controls.

TNF-α

sporadic


Input: In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients.

IDS

Hunter syndrome

IDS

Hunter syndrome


Input: We also measured the induction of TIS genes by TPA and/or cycloheximide in Raw264. 7 mouse macrophage cells and U937 human histiocytic lymphoma cells.

TPA

histiocytic lymphoma


Input: Erythropoietic protoporphyria (EPP) is an inherited defect of the ferrochelatase (FECH) gene characterized by the accumulation of toxic protoporphyrin in the liver and bone marrow resulting in severe skin photosensitivity.

ferrochelatase

Erythropoietic protoporphyria

ferrochelatase

Erythropoietic protoporphyria


Input: Near-diploid and near-triploid human sporadic colorectal adenocarcinomas differ for KRAS2 and TP53 mutational status.

sporadic


Input: Diffuse parvalbumin expression was seen in all 41 of 41 (100%) chromophobe RCCs and only in 26 of 55 (47%) oncocytomas.

parvalbumin

RCC

parvalbumin

RCC


Input: LMW-E/CDK2 deregulates acinar morphogenesis, induces tumorigenesis, and associates with the activated b-Raf-ERK1/2-mTOR pathway in breast cancer patients.

tumorigenesis


Input: In addition, individuals having slow NAT2 alleles had a significantly higher frequency of the typical smoking-related DNA adduct pattern, i. e.

smoking


Input: When overexpressed in breast cancer cells, these forms of cyclin E induce genomic instability, resistance to inhibition by p21 and p27, and resistance to antiestrogen therapy.

genomic instability


Input: Taken together, these results suggest that OPG silencing in carcinoma cancer cells occurs through epigenetic repression.

OPG

carcinoma


Input: In this study, we demonstrate that fos-related antigen-1 (Fra-1) plays a critical role in IL-6 induced CRC aggressiveness and epithelial-mesenchymal transition (EMT).

aggressiveness


Input: These data demonstrate that interaction with the auxiliary subunit TRIP8b is a major mechanism underlying proper expression of HCN channels and I (h) in vivo, and suggest that targeting I (h) may provide a novel approach to treatment of depression.

depression

depression


Input: Our results indicate that the two translocation breakpoints differ from each other and that the chromosomal break in t (X; 1)-positive papillary renal cell carcinoma is located between the markers PFC-TIMP-OATL1-SYP-TFE3 and DXS226-DXS146-DXS255-OATL2-DXS14.

TIMP

translocation


Input: Using a ribonomics approach, we identified a subset of elF3m-influenced genes and showed that the expression of two highly represented tumorigenesis-related genes, MIF and MT2, were affected by eIF3m at the mRNA level.

tumorigenesis


Input: These studies suggest that the dramatic abnormalities in EAAT2 may be due to translational or post-translational processes.

abnormalities


Input: This study demonstrates for the first time that impairment of angiogenesis and myocardial dysfunction can be regulated by Ad. Trx1 gene therapy in streptozotocin-induced diabetic rats subjected to infarction.

infarction


Input: A genome-wide association study identified inactivating phosphodiesterase (PDE) 11A (PDE11A)-sequencing defects as low-penetrance predisposing factors for iMAD and related abnormalities; we also described a mutation (c. 914A > C/H305P) in cyclic AMP (cAMP)-specific PDE8B, in a patient with iMAD.

abnormalities


Input: Misfolding of Notch3 is linked to endoplasmic reticulum stress and increased reactive oxygen species, which may result in dysfunction of endothelial cells, inflammation and ischemia.

ischemia


Input: Mice with EC deletion of BMPR2 develop hypoxia-induced pulmonary hypertension that, in contrast to non-transgenic littermates, does not reverse upon reoxygenation and is associated with reduced PA microvessels and lung EC p53, PGC1α and TFAM, regulators of mitochondrial biogenesis, and mitochondrial DNA.

TFAM

pulmonary hypertension


Input: This study aimed to assess the association of oestrogen receptor alpha (ER-α) gene polymorphisms and semen variables in infertile oligoasthenoteratozoospermic (OAT) men.

OAT

infertile


Input: Taken together, our data suggest a function of GLO1 in the regulation of detoxification and target adduction by the glycolytic byproduct methylglyoxal in malignant melanoma.

malignant melanoma

malignant melanoma


Input: In participants with severe COPD, SNPs in EPHX1 and SERPINE2 were associated with hypoxemia in two separate study populations, and SNPs from SFTPB were associated with pulmonary artery pressure in the NETT participants.

hypoxemia


Input: Behavioral and histological analyses showed that knockdown of the Drosophila homolog of GBA1 (dGBA1) exacerbates the locomotor dysfunction, loss of dopaminergic neurons and retinal degeneration of αSyn-expressing flies.

retinal degeneration


Input: We report here the fusion between the NUP98 gene and another homeobox gene PMX1 in a case of human AML with a t (1; 11) (q23; p15) translocation.

NUP98 gene

translocation


Input: In this report, we exploited cancer-specific control of mRNA translation initiation in order to achieve enhanced replicative specificity of CRAd virotherapy agents.

CRAd

cancer


Input: As a result of the translocation, nucleotide base pair additions and deletions were detected at both breakpoint junction fragments, and an evolutionarily conserved VISTA enhancer element from 2p16. 1 was relocated at approximately 325 kb from the TRPS1 promoter.

VISTA

translocation


Input: Cubam is a multi-ligand receptor involved in dietary uptake of intrinsic factor-vitamin B (12) in the small intestine and reabsorption of various low-molecular-weight proteins (such as albumin, transferrin, apolipoprotein A-I and vitamin D-binding protein) in the kidney.

vitamin D-binding protein

weight


Input: Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1.

short nose


Input: Eight tumors showed negative staining for SDHB and positive staining for SDHA: a pancreatic neuroendocrine tumor, a macroprolactinoma, two gastric gastrointestinal stromal tumors, an abdominal ganglioneuroma, and three renal cell carcinomas.

SDHA

ganglioneuroma


Input: The expression of c-met mRNA was strong in the tissues of LEC rats with fulminant hepatitis and, especially, in the cholangiofibrosis tissues.

LEC

fulminant hepatitis


Input: Female European Americans with the TRPV1 Val (585) Val allele and males with low harm avoidance showed longer cold withdrawal times based on the classification and regression tree (CART) analysis.

CART

cold


Input: We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML).

CBL

developmental disorder

CBL

developmental disorder


Input: We characterized cardiac expression of WDR12, used adenovirus-mediated WDR12 gene delivery to examine effects of WDR12 on left ventricular (LV) remodeling, and analyzed relationship between MI associated WDR12 allele and cardiac function in human subjects.

adenovirus


Input: ARFGEF2 encodes the large (> 200 kDa) brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is required for vesicle and membrane trafficking from the trans-Golgi network (TGN).

TGN

vesicle


Input: Overall, our study provides the new insight that miR-30c inhibited colon cancer cells via targeting ADAM19.

colon cancer


Input: The docking protein Gab2 is overexpressed and estrogen regulated in human breast cancer.

docking protein

breast cancer


Input: Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.

mild


Input: Forced CIITA expression restored the MHC-II antigen expression in 435-Lung2 cells and abrogates spontaneous lung metastasis in both SCID and nude mice but also affected the tumorigenicity in nude mice.

CIITA

lung metastasis


Input: Although the majority of data seem to show that HCV carriers with normal ALT have mild and stable disease, with a favourable prognosis, several studies reported a significant progression of fibrosis in approximately 20-30% of the patients with ALT normality, and the development of HCC in some cases has been described, despite persistent ALT normality.

HCC

fibrosis


Input: Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.

EPPK

EPPK


Input: RAGE levels were measured in the bronchoalveolar lavage (BAL) and serum in the rats and in the pulmonary edema fluid and plasma from patients with acute lung injury (ALI; n = 22) and hydrostatic pulmonary edema (n = 11).

RAGE

pulmonary edema


Input: To report on a novel, accurate method for detecting microdeletion involving the DAZ gene in infertile men.

DAZ

infertile


Input: The p75 neurotrophin receptor (p75 (NTR)) contributes to diabetes mellitus-induced defective postischemic neovascularization.

NTR

neovascularization


Input: In conclusion, we provide the first evidence that miR-873 acts as a tumor suppressor by targeting KRAS and that miR-873-based gene therapy may be a therapeutic strategy in PDAC and TNBC.

TNBC

TNBC


Input: In this review we will present the clinical features of Sotos syndrome cases with proven abnormalities in NSD1.

abnormalities


Input: Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families.

VMOS

VMOS


Input: ITGA2 haplotype 2 (807C) and ITGA2B haplotype 1 (Ile (843)) were each associated with increased bleeding severity scores (P <. 01 and P <. 01, respectively).

bleeding


Input: Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).

COCH

COCH


Input: Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect.

short-chain acyl-CoA dehydrogenase

asymptomatic


Input: However, he also has developmental delay, a refractive errors, dental defects, pectus carinatum, and skin abnormalities that have only been associated with linkeropathies caused by mutations in B4GALT6 and B4GALT7.

pectus carinatum


Input: To investigate the distribution of DAZ gene copy deletions among Chinese men, we analyzed DAZ gene deletions by multiplex polymerase chain reaction (multi-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 128 infertile patients with severe oligozoospermia selected as semen donors for intracytoplasmic sperm injection (ICSI) and 287 normospermic men.

DAZ

infertile


Input: Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.

X-linked hydrocephalus

X-linked hydrocephalus


Input: To characterize the role of PCs in endometrial cancer, we assessed expression of seven PCs (PC1/3, PC2, PACE4, PC4, furin, PC5/6 and PC7) by RT-PCR in six well characterized endometrial cancer cell lines.

endometrial cancer


Input: With the biophysical characteristics of the human EMI domain-containing protein 2 (EMID2) gene in relation to the extracellular matrix deposition and epithelial-mesenchymal transition as pivotal characteristics of airway remodeling in asthma, we hypothesized that genetic polymorphisms of EMID2 might affect the development of AIA.

airway remodeling


Input: As αvβ6 integrin is capable of promoting both tissue fibrosis and carcinoma invasion, we examined its expression in fibroepithelial hyperplasia and OSF.

OSF

fibrosis


Input: However, expression of TIM-1 and-3 is not restricted solely to T cells and the presence of TIM-3 in resident CNS cells may indicate a role for this molecule in the interaction between the nervous and immune systems.

nervous


Input: Angiotensin II-induced arterial thickening, fibrosis and stiffening involves elevated arginase function.

Angiotensin II

fibrosis

Angiotensin II

fibrosis


Input: The mutation in our patient is the first reported affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome.

Vici syndrome

Vici syndrome


Input: miR-1202 is a primate-specific and brain-enriched microRNA involved in major depression and antidepressant treatment.

major depression

major depression


Input: The objectives of the present study were, first, to clarify whether androgens are required in the development of hyperinsulinemia, insulin resistance, and hypertension in fructose-fed rats, and second, to determine if cyclooxygenase-1 and cyclooxygenase-2 are also increased in the arteries of these rats.

hypertension

hypertension


Input: The most commonly detected translocation involves fusion of EWSR1 to one of the genes encoding ETS family of transcription factors, usually FLI1 or ERG.

translocation


Input: Moreover, TK-/-TRAMP + prostate tumors exhibited decreased tumor vascularization relative to TK +/+ TRAMP + prostate tumors, which correlated with reduced levels of the angiogenic molecules vascular endothelial growth factor and CXCL2.

TRAMP

vascularization


Input: Cyclin E expression in tumors of BRCA1 or BRCA2 carriers is higher, and cyclin D1 expression lower, than in sporadic tumors.

sporadic


Input: In addition, various kinds of hematopoietic cell lines, particularly the highly aggressive lymphoma/leukemia lines, lacked SHP1 expression in vitro, suggesting that loss of SHP1 expression may be related to not only malignant transformation, but also tumor cell aggressiveness.

aggressive lymphoma


Input: We identified a novel heterozygous missense mutation at 332T & gt; C in the keratin 13 gene believed to be related to the development of white sponge nevus.

keratin 13

white sponge nevus

keratin 13

white sponge nevus


Input: Given the homology to HRX/MLL1/ALL1 at 11q23 that is dysregulated by translocations in acute leukemia, we hypothesize that dysregulation of MMSET contributes to neoplastic transformation in MM with t (4; 14) translocation.

neoplastic transformation


Input: In women, TLR1, TLR3, TLR6, and TLR7 were associated with body mass index and TLR5, TLR7, and TLR10 were associated with total cholesterol to high-density lipoprotein ratio.

body mass index


Input: MicroRNA-125b-1 (miR-125b-1) is a target of a chromosomal translocation t (11; 14) (q24; q32) recurrently found in human B-cell precursor acute lymphoblastic leukemia (BCP-ALL).

BCP

chromosomal translocation


Input: Patients with the T allele in NQO1 * 2 (CT or TT genotypes) had a higher risk of bleeding than patients with the CC genotype (adjusted OR: 2. 25, 95% CI: 1. 37 to 3. 70, P = 0. 001).

bleeding

bleeding


Input: BAL CD4 + T cells expressed IL-18Ralpha in a higher proportion than did paired CD8 + T cells in patients with sarcoidosis but not in control subjects.

sarcoidosis


Input: Blood samples were analyzed for protein C (PC); protein S; antithrombin (AT); activated PC resistance (APCR); lipoprotein (a) [Lp (a)]; lupus anticoagulant; anticardiolipin antibodies; and the methylenetetrahydrofolate reductase C677T (MTHFR), factor V G1619A, factor II G20210A (PT), plasminogen activator inhibitor-1 4G6755G, and tissue factor pathway inhibitor C536T mutations.

MTHFR

lupus anticoagulant


Input: Cell migration and invasion ability in LOX inhibited HO8910 cells were investigated under hypoxia/reoxygenation conditions, using matrigel cell invasion and migration assays.

LOX

hypoxia


Input: Similarly, subtle abnormalities in the function of the electroneutral sodium-(potassium)-chloride cotransporters (NKCC2 and NCCT) and the renal CLC-type chloride channels (CLC5) may be major determinants of urinary calcium excretion with roles in the pathogenesis of' idiopathic' hypercalciuria and osteoporosis.

NCCT

hypercalciuria


Input: In conclusions, the increased levels of neutrophil-expressed and soluble forms of L-selectin in HD patients, and the intradialysis increase in sL-selectin and decrease in CD62L and neutrophil count are unrelated to HCV viremia.

viremia


Input: Overexpression of MDM2 in a sclerosing epithelioid fibrosarcoma: genetic, immunohistochemical and ultrastructural study of a case.

sclerosing epithelioid fibrosarcoma


Input: Our results show that CTCs typically represent a unique subpopulation of all BM clonal PCs, characterized by downregulation (P <. 05) of integrins (CD11a/CD11c/CD29/CD49d/CD49e), adhesion (CD33/CD56/CD117/CD138), and activation molecules (CD28/CD38/CD81).

adhesion


Input: Reduced expression of glucocorticoid-inducible genes GILZ and SGK-1: high IL-6 levels are associated with reduced hippocampal volumes in major depressive disorder.

major depressive disorder

major depressive disorder


Input: We then examined the functional consequences of Q110 IL-13 variant in combination with an atopy-associated variant of its receptor, IL-4R alpha (V50R551).

atopy


Input: Clinical and biochemical features, including intraoperative PTH levels, number, weight and size of the affected parathyroid gland (s), are crucial parameters to consider when rendering an accurate diagnosis of parathyroid proliferations.

PTH

weight


Input: We genotyped five PTTG1 haplotype-tagging SNPs (htSNP) by PCR-RFLP assays in a case-control study, which included 280 Han Chinese patients diagnosed with pituitary adenoma and 280 age-, gender-and geographically matched Han Chinese controls.

pituitary adenoma


Input: 1998b), we have now analyzed patients from a total of 36 families with incomplete CSNB and identified 20 different mutations in the calcium channel gene CACNA1F.

CSNB

CSNB


Input: Although the entire PEX gene has not been identified and some mutations may have been missed, the lack of detection of mutations in the remaining 13 patients, especially in 1 patient who has an apparently balanced, de novo 9; 13 translocation, implies that there may be other loci involved in the generation of the HYP phenotype.

PEX

HYP

PEX

HYP


Input: We demonstrate that menadione causes GSTA1-JNK dissociation and JNK activation in preconfluent Caco-2 cells, whereas postconfluent cells are resistant to this effect.

dissociation


Input: Analysis of SNP in the TNIP1 gene and expression of this gene in peripheral blood lymphocytes indicated these SNP were associated with the occurrence of SLE in Han Chinese patients.

SLE

SLE


Input: Multiple logistic regressions revealed that both Fcgamma receptor and IL-6-174 polymorphisms were associated with increased odds of detecting A. actinomycetemcomitans, P. gingivalis, and T. forsythensis after adjustment for age, ethnicity, smoking, and periodontitis extent.

smoking


Input: The purpose of this study was to (1) compare the anorectic responses to the aforementioned 8-ketotrichothecenes following oral gavage at a common dose (2. 5 mg/kg bw) and (2) relate these effects to changes plasma CCK and PYY & #8323; & #8331; & #8323; & #8326; concentrations.

CCK

anorectic

CCK

anorectic


Input: The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor.

insulin receptor

leprechaunism

insulin receptor

leprechaunism


Input: Long-term changes in catecholamine levels and expression of their biosynthetic enzymes are associated with several stress-related disorders such as elevated plasma norepinephrine in posttraumatic stress disorder and increased postmortem tyrosine hydroxylase in the locus coeruleus with major depression.

tyrosine hydroxylase

major depression

tyrosine hydroxylase

major depression


Input: The loss of any one of the Gas6-Rs protects mice against thromboembolism induced by collagen-epinephrine and stasis-induced thrombosis.

thromboembolism

thromboembolism


Input: To investigate striatal and cortical pre-and postsynaptic dopaminergic function in parkin-linked parkinsonism, 13 unrelated patients homozygous or compound heterozygous for parkin mutations were studied with [(18) F] dopa and [(11) C] raclopride (RAC) PET.

RAC

parkinsonism


Input: Differential expression of human leukocyte antigen-G (HLA-G) messenger RNAs and proteins in normal human prostate and prostatic adenocarcinoma.

HLA-G

prostatic adenocarcinoma


Input: The earliest visible defect in the Pkd1 (-/-) reproductive tract was cystic dilation of the efferent ducts, which are derivatives of the mesonephric tubules.

dilation


Input: Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis.

UTR

parathyroid adenoma


Input: Recently, this translocation has been shown to represent a rearrangement of the EWS gene at 22q12 with a novel gene at 9q22 designated CHN (or TEC).

EWS gene

translocation


Input: Throughout damage-repairing process, ectopic MCT-1 cells displayed many larger chromosomes and multiple chromosomal fusions compared to the controls that showed increase in chromosomal breaks/gaps and minute chromosomal fragments.

chromosomal breaks


Input: The expression levels of hsa-miR-29c were higher in normal gastric mucosal samples, and decreased progressively in non-atrophic chronic gastritis samples, intestinal metaplasia samples and intestinal-type gastric adenocarcinoma samples.

chronic gastritis


Input: Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults.

HPRT

smoking


Input: Inoculation with an Aβ42 vaccine was also found, for the first time, to result in a significant increase in plaque-independent astrocytic hyperplasia in the dorsal part of the lateral septal nucleus (LSD) which was also devoid of plaques, reflecting potential brain inflammatory processes.

LSD

plaque


Input: We have previously shown that genetic polymorphisms in the MDM2 promoter (309T--> G) and p53 coding region (72Arg--> Pro) are associated with susceptibility to esophageal and lung cancers.

esophageal


Input: The identification of putative COL4A2 mutations that might contribute to ICH in human patients provides insight into the pathogenic mechanisms of this disease.

ICH

ICH


Input: Loss of Fat4 disrupts oriented cell divisions and tubule elongation during kidney development, leading to cystic kidney disease.

cystic kidney disease

cystic kidney disease


Input: Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T > C MTTK mutation.

MTTK

leukoencephalopathy


Input: Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRalphabeta (+) CD4 (-) CD8 (-) T cells (DNT cells), and autoimmunity.

hypergammaglobulinemia


Input: Immunohistochemistry and tissue microarray technology were applied to a cohort of clinically annotated series of sporadic (n = 1849), BRCA1-mutated (n = 48), and BRCA2-mutated (n = 27) BC.

sporadic


Input: Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis.

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome


Input: Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs.

DBP

systolic blood pressure


Input: We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.

renin

renal tubular dysgenesis

renin

renal tubular dysgenesis


Input: Mutation screening of SACS by direct sequencing and multiplex amplicon quantification for detection of intragenic copy number variations in a cohort of 85 index patients with phenotypes suggestive for ARSACS.

SACS

ARSACS

SACS

ARSACS


Input: C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: There was strong evidence that linear regression and mendelian randomisation based estimation gave conflicting results for the CRP-BMI association (p = 0. 0002), and some evidence of conflicting results for the association of CRP with the score for insulin resistance (p = 0. 0139), triglycerides (p = 0. 0313), and HDL cholesterol (p = 0. 0688).

CRP

insulin resistance


Input: We evaluated in vitro KGF production by human lung fibroblasts from patients with idiopathic pulmonary fibrosis (IPF, n = 10) and from control subjects (n = 7) at baseline and after IL-1beta stimulation.

KGF

pulmonary fibrosis

KGF

pulmonary fibrosis


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

translocation


Input: Recently, in one sporadic and four dominant cases, four different mutations including two frame shift mutations, two premature termination codons, and one splice site mutation in the mineralocorticoid receptor (MR) gene were identified.

mineralocorticoid receptor

sporadic


Input: XBP1 confers an important role in protection against oxidative stress in gliomas, potentially via up-regulation of antioxidant molecules such as catalase.

catalase

gliomas

catalase

gliomas


Input: These results suggest that there is no significant relationship between the ACE inhibitor-induced cough and ACE gene polymorphism, plasma BK, SP and ACE inhibitor concentrations in patients with hypertension or chronic nephritis.

ACE gene

chronic nephritis


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

very low birth weight


Input: The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder.

VIII

deafness


Input: Co-existence of renovascular hypertension, polyarteritis nodosa, antiphospholipid syndrome and methylenetetrahydrofolate reductase mutation.

methylenetetrahydrofolate reductase

renovascular hypertension


Input: Our results strongly indicate that an additional i (9) (p10) is a new and recurrent primary chromosome anomaly in PV, and, in consideration of trisomy 9 being one of the most common anomalies in PV, amplification of a gene or genes on 9p, but not on 9q, may play a crucial role in the pathogenesis of PV.

trisomy 9


Input: Our findings extend recently reported data indicating that seladin-1 overexpression directly enhances the resistance to Abeta toxicity featuring seladin-1/DHCR 24 as a possible new susceptibility gene for sporadic AD.

sporadic


Input: By screening a tissue microarray of invasive breast tumors, we have shown that the receptor tyrosine kinase RET (REarranged during Transfection) and its coreceptor GFR alpha 1 (GDNF receptor family alpha-1) are overexpressed in a subset of estrogen receptor-positive tumors.

GFR

breast tumors


Input: In this cohort of Chinese patients with spastic paraplegia, SPAST and ATL1 mutations were found in 5 of 17 HSP probands with AD family history and in 2 of 19 sporadic HSP patients.

sporadic


Input: Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Telomerase reverse-transcriptase

Hoyeraal-Hreidarsson syndrome

Telomerase reverse-transcriptase

Hoyeraal-Hreidarsson syndrome


Input: Logistic regression was performed to investigate the association of smoking and selected susceptibility variants in the LT pathway including ALOX5AP, LTA4H, LTC4S, PON1, and LTA as well as CYP1A1 on CAD risk while controlling for age, gender, BMI, family history, diabetes, hyperlipidemia, and hypertension.

LTA

smoking


Input: The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively.

bipolar disorder

bipolar disorder


Input: Targeted sequencing and subcloning of NLRP3 amplicons confirmed the presence of the somatic mutation in whole blood at a ratio similar to the exome data.

somatic mutation


Input: BMI, waist circumference (WC), waist-to-hip ratio, blood pressure, HDL or total cholesterol, triglycerides and FVII: ag levels were positively associated with alcohol intake in men (multivariate ANOVA).

ANOVA

alcohol intake


Input: Several experimental studies have suggested that signal transducers and activators of transcription 1 and 4 (STAT1 and STAT4) play important roles in the regulation of mesangial proliferation and renal fibrosis, and in the development of inflammation in several types of glomerulonephritis.

inflammation


Input: In addition, MSH2 1168T showed trends toward association with CRC and GC in young (< 50 yr) sporadic disease patients (OR = 10. 97 and 17. 15, respectively).

sporadic


Input: Lysophosphatidic acid (LPA) levels are elevated in ascites from ovarian cancer patients, but its potential role in ovarian cancer metastasis has just begun to be revealed.

LPA

ascites


Input: Our results demonstrate the existence of two previously unidentified sst5 spliced variants with distinct distribution in normal tissues and pituitary tumors, unique ligand-selective signaling properties, and subcellular distribution, which could contribute to somatostatin and cortistatin signaling in normal and tumoral cells.

cortistatin

pituitary tumors


Input: Given that deregulated fatty acid metabolism plays a key role in kidney fibrosis, these results demonstrate a novel connection between fatty acid and Msi1, an RNA-binding protein, in kidney fibrosis.

RNA-binding protein

kidney fibrosis


Input: By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (" Cohen-like " syndrome).

Cohen syndrome

Cohen syndrome


Input: A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis.

intrahepatic cholestasis

intrahepatic cholestasis


Input: Hydrogen peroxide treatment of β cell lines induced cytoplasmic translocation of MAFA and NKX6. 1.

NKX6. 1

translocation


Input: The initial level of protein S-100b is not correlated with preoperative degree and duration of paresis or with functional outcome.

protein S

paresis


Input: Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

epidermolysis bullosa with pyloric atresia

epidermolysis bullosa with pyloric atresia


Input: One hundred and thirty five cases (135) of colorectal carcinoma were studied for COX2-A1195G polymorphisms employing PCR-RFLP technique, in addition to 104 cases of adenomatous polyps and 115 matched controls taken from the general population.

adenomatous polyps


Input: In conclusion, our findings support the hypothesis that ENPP1-121Q is involved in the genetic susceptibility of T2D in the Tunisian population, while the PPARgamma-12Ala allele may confer protection against overweight.

overweight


Input: A significant effect of the rs6196 polymorphism in the NR3C1 on weight (β =-4. 18; SE = 2. 02; p = 0. 018), BMI (β =-1. 88; SE = 0. 64; p = 0. 004), waist (β =-5. 77; SE = 1. 75; p = 0. 001) and waist/hip ratio (β =-0. 03; SE = 0. 012; p = 0. 009) was found.

weight


Input: Mechanisms of HIV non-progression; robust and sustained CD4 + T-cell proliferative responses to p24 antigen correlate with control of viraemia and lack of disease progression after long-term transfusion-acquired HIV-1 infection.

viraemia


Input: Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

GNPTG

mucolipidosis type III gamma

GNPTG

mucolipidosis type III gamma


Input: Histological analyses revealed that Alox5 (-/-) mice had increased islet area, beta cell nuclear size, and numbers of beta cells/mm (2) islet (p < 0. 05), indicative of both hyperplasia and hypertrophy.

hyperplasia


Input: We found that patients with DLBCL with the worst prognosis, according to the outcome predictor score, had decreased expression of catalase, glutathione peroxidase, manganese superoxide dismutase, and VDUP1, a protein that inhibits thioredoxin activity.

DLBCL

DLBCL


Input: The analyses on the 28 individual SNPs previously associated with schizophrenia found that two SNPs in TCF4 returned a significant association with the SPEQ Paranoia dimension, rs17512836 (p-value & #8202; = & #8202; 2. 57 & #215; 10 & #8315; & #8308;) and rs9960767 (p-value & #8202; = & #8202; 6. 23 & #215; 10 & #8315; & #8308;).

Paranoia

Paranoia


Input: Out of 251 infertile men, 57 (22. 7%) men were with varicocele, of which 8. 77% were azoospermic, 26. 31% were severely oligozoospermic, 21. 05% were mildly oligozoospermic, and 43. 85% were oligoasthenoteratozoospermic (OAT), and 194 (77. 29%), with idiopathic infertility, of which 51% were azoospermic, 13. 40% were severely oligozoospermic, 19. 07% were mildly oligozoospermic, and 16. 4% were with OAT.

OAT

infertility


Input: Our aims were to establish the frequency of KLF6 inactivation in sporadic and inflammatory bowel disease (IBD)-associated colorectal cancers (CRC); to correlate these abnormalities with mutation and/or loss of TP53, APC, and K-RAS; and to characterize the behavior of mutant KLF6 in colon-derived cell lines.

sporadic


Input: Mothers who consumed caffeine, oxidized CYP1A2 * 1F quickly, and acetylized NAT2 slowly had a nonsignificantly elevated estimated risk for an NTD-affected pregnancy (OR, 3. 10; 95% CI, 0. 86-11. 21).

NTD

NTD


Input: 128 subjects with Hp positive gastritis or peptic ulcers were randomly assigned to receive 10 mg rabeprazole twice daily with 1000 mg amoxicillin twice daily and 500 mg clarithromycin (RAC group) or 400 mg metronidazole (RAM group) twice daily for 1 week.

RAM

gastritis


Input: Our data suggest that the gastroprotective activity of amylin in some experimental models of gastric ulcers involves capsaicin-sensitive fibers and CGRP receptors.

amylin

gastric ulcers

amylin

gastric ulcers


Input: We performed molecular scanning of the human type 2 deiodinase (DIO2) gene and evaluated a novel variant for associations with obesity and insulin resistance, assessing both the main effect and interaction with the Trp64Arg beta-3--adrenergic receptor (ADRB3) variant.

insulin resistance


Input: Both male and female SOCS2 Tg mice displayed reduced locomotor hyperactivity after the administration of the dopamine releaser, amphetamine, compared to wildtype controls (WT).

hyperactivity


Input: In the present study, variants of the tyrosine hydroxylase (TH) and DOPA decarboxylase (DDC) genes (for TH: rs3842727, rs6356; for DDC: rs1451371, rs1470750, rs998850) were investigated in 111 suicide attempters and 289 healthy subjects to assess the involvement of the dopaminergic synthesis pathway in personality traits.

DDC

suicide


Input: Our data provide evidence that rosiglitazone considerably attenuates inflammatory responses after SE by suppressing CD40 expression and microglial activation.

SE

SE


Input: We hypothesized that usual interstitial pneumonia (UIP) and nonspecific interstitial pneumonia (NSIP), major pathologic patterns of chronic interstitial pneumonia, would have different expression profiles of TH1 and TH2 chemokines.

nonspecific interstitial pneumonia


Input: MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography.

MPI

ischemia


Input: Although the role of nuclear ASPP2-Bcl-2 complexes is still unclear, our results suggest that nuclear ASPP2 can prevent the translocation of the remaining Bcl-2 to the cytoplasm by binding to Bcl-2 in a CHOP-dependent manner, and this effect also contributes to Beclin-1-initiated autophagy.

translocation


Input: We here review the evidence that the Nrf2/ARE signaling pathway plays an important role in vascular homeostasis and the defense of endothelial and smooth muscle cells against sustained oxidative stress associated with diseases such as atherosclerosis and preeclampsia.

preeclampsia


Input: Furthermore, RASSF1A protein gradually decreased as multistep hepatocarcinogenesis progressed from chronic hepatitis/cirrhosis dysplastic nodules toward HCC, whereas the protein expression of YAP and AREG gradually increased.

HCC

chronic hepatitis


Input: Based on its function and animal studies, REC8, a key component of the meiotic cohesion complex, has been identified as a candidate male infertility gene.

male infertility


Input: A high frequency of somatic mutation in GNAQ has been reported in uveal melanoma (UM).

GNAQ

somatic mutation


Input: Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype.

Joubert syndrome

Joubert syndrome


Input: The results of the present study suggest that a reduction in Mfn2 mRNA expression contributes to paclitaxel-induced mechanical allodynia.

mechanical allodynia

mechanical allodynia


Input: Lamivudine plus rhIL-12 treatment was associated with a greater increase in virus-specific T-cell reactivity, IFN-gamma production, and an inverse correlation between the frequency of IFN-gamma-producing CD4 + T-cells and viremia.

viremia


Input: We conclude that women with the APOE * 4 polymorphism are at substantially increased risk of hip and wrist fracture that is not explained by bone density, impaired cognitive function, or falling.

APOE

bone density


Input: We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A > G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).

heart rate


Input: The expression of CD97, a member of the EGF-TM7 family with adhesive properties, is proportional to the aggressiveness and lymph node involvement in thyroid tumors.

EGF

aggressiveness


Input: We report the identification of two heterozygous mutations of the gene for Kir 1. 1 (ROMK) from an antenatal Bartter syndrome patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as hyperkalemia and hyponatremia, and evolved to a relatively benign course.

ROMK

pseudohypoaldosteronism type 1


Input: Taken together, our data reveal novel Egr-1 signaling that mediates the NF-& #954; B and AP-1 pathways to orchestrate PM-induced pulmonary inflammation and mucus hyperproduction, suggesting that Egr-1 inhibition could be an effective therapeutic approach for airway disorders or disease exacerbations induced by airborne particulate pollution.

pulmonary inflammation

pulmonary inflammation


Input: Some studies have shown that families with germline mutations in the breast cancer susceptibility gene BRCA2 have an increased risk of breast and ovarian cancers, as well as a modestly increased risk of pancreatic cancer.

breast cancer

breast cancer


Input: Gene Ontology (GO) enrichment analysis suggests diverse immunologic functions, linking CD14 (+ +) CD16 (+) monocytes to Ag processing and presentation (eg, CD74, HLA-DR, IFI30, CTSB), to inflammation and monocyte activation (eg, TGFB1, AIF1, PTPN6), and to angiogenesis (eg, TIE2, CD105).

inflammation


Input: The purpose of this study was to investigate the inhibitory effect of TSA on myofibroblast differentiation and ECM production in nasal polyp organ cultures.

TSA

nasal polyp


Input: C-terminal tensin-like (Cten) protein, a component of focal adhesions, contributes to cell motility and invasion in multiple human cancers.

tensin

cancers


Input: In this study, we investigated the relationship between peak bone mass and polymorphisms of the vitamin D receptor (VDR), estrogen receptor (ER) a, and collagen type Ialpha1 (COLIA1) genes in relation to other factors such as birth weight, lifestyle diet, and exercise in a population-based cohort of 216 women and 244 men in their early 20s.

VDR

birth weight


Input: Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence.

bone mineral density


Input: We tested if dimethylfumarate (DMF), an anti-psoriasis drug, could inhibit abnormal vascular remodeling via NF-E2-related factor 2 (Nrf2)-NAD (P) H quinone oxidoreductase 1 (NQO1) activity.

vascular remodeling


Input: The purpose of this study was to investigate the genetic factors in Korean atopic dermatitis patients by studying the human leucocyte antigen (HLA) class I association and polymorphisms of transporters associated with antigen presentation (TAP) and low-molecular-weight polypeptide (LMP) genes.

TAP

weight


Input: The phenotypic characteristics of isolated growth hormone deficiency (IGHD) type IB in humans, such as autosomal recessive inheritance, time of onset of growth retardation, diminished secretion of growth hormone (GH) and IGF-I, proportional reduction in weight and size, and delay in sexual maturation, has much in common with the phenotype of the homozygous little/little (lit/lit) mouse.

IGF-I

weight


Input: Moreover, the tumor necrosis factor-alpha gene is located on chromosome 6p21. 3, a region that has been found to be weakly associated with obsessive-compulsive disorder in linkage studies.

alpha gene

obsessive-compulsive disorder


Input: In hypoxia, mRNA expression of OXCT1, ACAT1, BDH1 and 2 was downregulated.

hypoxia


Input: In addition, the coding regions of the VMD2 gene were completely sequenced in six probands with familial Best disease who showed no SSCP shift.

Best disease

Best disease


Input: Taking together, our data indicate that IL-33/IL-33R pathway is critically involved in mammary tumor growth by facilitating expression of pro-angiogenic VEGF in tumor cells and attenuating tumor necrosis.

VEGF

mammary tumor


Input: Fluorescence in situ hybridization analysis demonstrated that the NUP98 gene at 11p15 was split by the translocation.

NUP98 gene

translocation


Input: The MYBL2 gene encodes a transcription factor implicated in cell proliferation and maturation whose amplification or overexpression has been associated with different human malignancies, suggesting that it could be implicated in tumorigenesis.

MYBL2 gene

tumorigenesis


Input: Brain endothelial overexpression of miR-146a diminished, whereas knockdown of miR-146a augmented cytokine-stimulated adhesion of T cells to hCMEC/D3 cells, nuclear translocation of NF-κB, and expression of adhesion molecules in hCMEC/D3 cells.

NF-κB

adhesion


Input: To investigate the association between the ApoE and LDLR-R gene loci on coronary heart disease (CHD) and their interaction with alcohol drinking and smoking in Hans of Chinese.

LDLR

alcohol drinking


Input: SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

Schinzel-Giedion syndrome

Schinzel-Giedion syndrome


Input: In this patient, early onset of HP was attributed to the presence of gene abnormalities in the CT and SPINK1 genes.

abnormalities


Input: Specific TP53 mutations in L3 domain alone (only in DFS) or in combination with specific Ki-ras mutations at codon 13 are associated with a worse prognosis in sporadic CRC.

sporadic


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

liver fibrosis

liver fibrosis


Input: Modest overexpression of PN2/AbetaPP in transgenic mouse brain had no effect on intraluminal carotid arterial thrombosis but resulted in larger hematoma volumes and hemoglobin levels (23. 1 +/-2. 7 mm (3) [n = 6; P < 0. 01] and 1411 +/-202 microg/hemisphere [n = 12; P < 0. 01], respectively), compared with wild-type mice (15. 9 +/-2. 2 mm (3) [n = 6] and 935 +/-418 microg/hemisphere [n = 12], respectively).

arterial thrombosis


Input: This is the third reported case of t (8; 9) (p11; q34) and raises the question of the role of c-abl in the pathogenesis of this myeloproliferative disorder.

myeloproliferative disorder


Input: The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.


Input: Now, we show 12 additional mutations consistent with a loss of function of the Na-Cl cotransporter in GS.

Na-Cl cotransporter

GS

Na-Cl cotransporter

GS


Input: In this study, Hsp27, Hsp60, Hsp90α, and HspBP1 gene expression was investigated in human leukemia cell lines as well as in leukemia cells derived from patients with the onset of the disease.

leukemia


Input: Fifty percent of the variation in serum haptoglobin concentrations was explained by the variability in serum C-reactive protein concentrations, BMI, insulin sensitivity and haptoglobin genotypes.

C-reactive protein

insulin sensitivity


Input: A group of sporadic breast carcinomas, with no alteration in TP53 locus, were analysed for the presence of LOH in D17S34 and D17S30/5 loci, mapped to the 17p13. 3 region, distinct from and telomeric to TP53.

sporadic


Input: To date, the TRIF-deficient patients with HSE described herein have suffered from no other infections.

TRIF

HSE

TRIF

HSE


Input: Using a database of 735 colon and rectal cancers in the Nurse' s Health Study and the Health Professionals Follow-up Study, we examined the relationship of tumor SMO expression (assessed by immunohistochemistry) to prognosis, and to clinical, pathological, and tumor molecular features, including mutations of KRAS, BRAF, and PIK3CA, microsatellite instability, CpG island methylator phenotype (CIMP), LINE-1 methylation, and expression of phosphorylated AKT and CTNNB1.

SMO

microsatellite instability


Input: GT-094, a NO-NSAID, inhibits colon cancer cell growth by activation of a reactive oxygen species-microRNA-27a: ZBTB10-specificity protein pathway.

colon cancer


Input: Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

acid sphingomyelinase

type a Niemann-pick disease

acid sphingomyelinase

type a Niemann-pick disease


Input: Tyrosinase (TYR) is absolutely required for melanogenesis, but other melanosomal proteins, such as TYRP1, DCT, and gp100, also play important roles in regulating mammalian pigmentation.

DCT

pigmentation


Input: An antisense oligonucleotide targeted to human Ku86 messenger RNA sensitizes M059K malignant glioma cells to ionizing radiation, bleomycin, and etoposide but not DNA cross-linking agents.

malignant glioma


Input: Knockdown of TES expression by small-interfering RNA promoted oxidized-LDL-mediated monocyte adhesion to ECs, EC migration and the transendothelial migration of monocytes, while the over-expression of TES in ECs blunted these processes.

TES

adhesion


Input: [Serotonin type 2a (5-HTR2A) receptor gene polymorphism and personality traits in patients with endogenous psychoses].

personality traits


Input: Our results showed that LGR5 mRNA and protein expression was significantly over-expressed in 193/366 patients and 24/40mice model with primary colon cancer contrasted with matched normal tissues; significantly higher LGR5 gene expression was detected in pT4 cases than that in pT3 cases; PCNA and Ki67 expression was much more increase in colon cancer cells with positive LGR5 expression than those with negative LGR5 expression; LGR5 positive cancer not only in mice model but also in patients have shorter survival rate compared with LGR5 negative cancer.

colon cancer


Input: Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels.

progressive muscle weakness


Input: Most Crtl1 (tm1Nid/tm1Nid) mice died shortly after birth due to respiratory failure, but some survived and developed progressive dwarfism and lordosis of the cervical spine.

dwarfism

dwarfism


Input: Haplotypes within MBL2, CRP, ADRB2, IL4R, NOS3, and VDR were significantly associated (FDR-P < 0. 05) with log (ACR) or albuminuria in at least one race/ethnic group.

albuminuria


Input: DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv (11).

arms


Input: Moreover, addition of rIL-18 led to upregulation of CD11a and ICAM-1 adhesion molecules, which were involved in the contact between eosinophils and Colo-205 cells.

adhesion


Input: Heterologous expression of STIM1 p. R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p. P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca (2 +)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.

Stormorken syndrome

Stormorken syndrome


Input: We demonstrate that K13 upregulates the expression of a number of NF-κB responsive genes involved in cytokine signaling, cell death, adhesion, inflammation and immune response, including two NF-κB subunits involved in the alternate NF-κB pathway, RELB and NFKB2.

inflammation


Input: These transforming IL27R mutants displayed equal or greater transforming activity than bona fide haemopoietic oncogenes such as BCR-ABL (breakpoint cluster region-Abelson murine leukaemia viral oncogene homologue) and JAK2-V617F.

leukaemia


Input: Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin.

thyrotropin receptor

Familial gestational hyperthyroidism

thyrotropin receptor

Familial gestational hyperthyroidism


Input: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Marfan syndrome

Marfan syndrome


Input: We then constructed recombinant adenovirus vectors, AdTTF-1 and ADTGTK: AdTTF-1 contained cytomegalovirus promoter and rat TTF-1 cDNA; AdTGTK carried the TG promoter-driven HSV-TK gene.

adenovirus


Input: A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

luteinizing hormone receptor

leydig cell hypoplasia

luteinizing hormone receptor

leydig cell hypoplasia


Input: Here, we show that phosphatidylinositol (PI) 3-kinase is constitutively active and controls cell motility of highly invasive breast cancer cells by the activation of transcription factor, NF-kappaB.

NF-kappaB

invasive breast cancer


Input: Mutations of the known C21orf5 homologous genes Aspergillus nidulans DopA, Saccharomyces cerevisiae Dop1 and Caenorhabditis elegans pad1, determine morphological abnormalities.

abnormalities


Input: HTLV-I-specific CD8 (+) T cells have been characterized with high frequencies in peripheral blood and cerebrospinal fluid and production of proinflammatory cytokines, which contribute to central nervous system inflammation in HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP).

tropical spastic paraparesis


Input: All these four patients had persistent neutrophilia without history of delayed cord separation and showed moderate expression of CD18 (19 to 68%) on neutrophils.

neutrophilia


Input: The observation that somatic p53 mutations in sporadic brain tumours are largely restricted to those of astrocytic origin and that astrocytomas also prevail among CNS neoplasms associated with p53 germline mutation strongly suggests, that p53 mutations are capable of initiating neoplastic transformation in astrocytes of the human nervous system.

sporadic


Input: The TMPRSS2 Met160Val polymorphism is a genetic risk factor for sporadic prostate cancer in a Japanese population.

sporadic


Input: We have investigated 85 sporadic and 2 NF2 associated vestibular schwannomas, and one vagal schwannoma for chromosome 22 allele loss and NF2 gene mutations.

NF2 gene

sporadic


Input: Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

glucose-6-phosphate translocase

glycogen storage disease type Ib

glucose-6-phosphate translocase

glycogen storage disease type Ib


Input: The aim was to investigate upstream and downstream components of NIK transduction pathway in normal (NP), benign prostatic hyperplasia (BPH), prostatic intraepithelial neoplasia (PIN) and prostatic carcinoma (PC).

NIK

prostatic carcinoma


Input: DDAH1, but not DDAH2, mRNA levels were reduced, whereas miR-21 levels were elevated in lung tissues from patients with pulmonary arterial hypertension and mice with pulmonary hypertension exposed to 2 weeks of hypoxia.

pulmonary hypertension


Input: Our findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome.

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: In this study, we investigated whether MMP-9 is critical for colitis-associated colon cancer (CAC).

CAC

colon cancer


Input: No interaction between maternal NAT2 acetylator status and smoking or medication use was observed for orofacial cleft and spina bifida risk.

smoking


Input: Mice with overexpression of LPL in skeletal muscle accumulate TG in muscle, develop insulin resistance, are protected from excessive weight gain, and increase their metabolic rate in the cold.

LPL

insulin resistance


Input: We now show that the p53 protein in these cell hybrids was cytoplasmically sequestered and exhibited sporadic punctate staining, which is characteristic of the p53 expression pattern observed in neuroblastic neuroblastoma (NB) cell lines, in which p53 is also sequestered.

sporadic


Input: TLR2 and TLR3 expression as a biomarker for the risk of doxorubicin-induced heart failure.

heart failure

heart failure


Input: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Our data may be important for a better understanding of the contribution of reduced VGLUT1-mediated presynaptic glutamatergic neurotransmission in the generation of several behavioural abnormalities associated with schizophrenia.

schizophrenia

schizophrenia


Input: Sotos syndrome is a childhood overgrowth syndrome characterized clinically by a distinctive facial gestalt, advanced bone age, childhood overgrowth, and non-progressive developmental delay; and genetically by haploinsufficiency of the Nuclear receptor binding SET Domain 1 (NSD1) gene.

non-progressive


Input: In addition, we show that PINK1 is detected in a proportion of Lewy bodies in cases of sporadic Parkinson' s disease and Parkinson' s disease associated with heterozygous mutations in the PINK1 gene, which are clinically and pathologically indistinguishable from the sporadic cases.

PINK1 gene

sporadic


Input: A common variant in PAX6 is associated with reduced PAX6 and PCSK1 expression in human islets and reduced insulin response, as well as decreased glucagon and GIP concentrations and decreased insulin sensitivity.

insulin sensitivity


Input: These findings suggest that overexpression of SRF exclusively in astrocytes can improve neuronal plasticity in FASD.

SRF

FASD

SRF

FASD


Input: Our previous studies showed that loss of the enzymatic activity of HTRA2 due to a Ser276Cys missense mutation in its catalytic domain is associated with early onset neurodegeneration, multiple tissue atrophy and premature lethality in homozygous htra2 (mnd2) mice, suggesting that HTRA2 is neuroprotective.

neurodegeneration


Input: FA inhalation did not modify the activities of GPX, GR, GST and CAT but reduced the activity of SOD when compared to the naïve group.

CAT

inhalation


Input: Nothing is yet known of the expression pattern or methylation status of the promoter region of BRCA2 in sporadic ovarian cancer.

sporadic


Input: The PR isoforms positively correlated with the mRNA levels of HER/ErbB receptors and ligands associated with a more differentiated phenotype (HER3, HER4, EGF, AREG, NRG3 and NRG4) while they correlated negatively with those associated with aggressiveness (EGFR, TGFa, HB-EGF, EREG, and NRG2).

EGF

aggressiveness


Input: Recently, several mutations in apoptosis genes were identified as the cause of monogenic hearing impairment. These genes are TJP2, DFNA5 and MSRB3.

hearing impairment

hearing impairment


Input: ATF5, in turn, promotes survival by stimulating transcription of myeloid cell leukemia sequence-1 (MCL1), an antiapoptotic B cell leukemia-2 family member.

leukemia


Input: Our results suggest that the OPG/RANK/RANKL axis may be involved in cardiac remodeling in immuno-inflammatory myocardial diseases and progression of chronic HF and thus may represent targets for intervention in this disorder.

RANK

myocardial diseases


Input: In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.

EVC

Ellis van Creveld syndrome

EVC

Ellis van Creveld syndrome


Input: We investigated the effect of cardiac overexpression of rat RALT on cardiac hypertrophy induced by angiotensin II and isoproterenol in RALT transgenic mice and wild-type littermates.

RALT

cardiac hypertrophy


Input: In the present study, we examined the effects of prenatal restraint stress on depression-like behavior in one-month offspring Sprague-Dawley rats and expression of ERK2, CREB, B-cell lymphoma-2 (Bcl-2) mRNA in the hippocampus, prefrontal cortex and striatum to explore the potential role of ERK-CREB pathway in mediating the behavioral effects of PS exposure.

depression

depression


Input: The X-linked Hyp and Gy mutations are murine homologues of X-linked hypophosphatemia (XLH), a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rickets, hypophosphatemia and decreased renal tubular maximum for Pi reabsorption relative to glomerular filtration rate (Tmp/GFR).

GFR

growth retardation


Input: Three polymorphisms in the peroxisome proliferator activated receptor alpha (PPARalpha) gene were investigated (L162V, G > A in intron 2 and G > C in intron 7), two in the apolipoprotein CIII (APOC3) gene (-482C > T and-455T > C) and one in the beta-fibrinogen (FIBB) gene (-455G > A).

fibrinogen


Input: In approximately 85% of Ewing sarcomas, chromosomal translocations give rise to the chimeric gene EWS/FLI, encoding the N-terminus of the RNA binding protein EWS fused to the DNA-binding domain of the ETS protein FLI-1.

ETS protein

sarcomas


Input: INTRODUCTION: Impairments in facial emotion recognition (FER) have been reported in bipolar disorder (BD) during all mood states.

FER

bipolar disorder


Input: Immunofluorescence showed that heparanase and VEGF staining was intense in hypoxia-treated HRECs and OIR mice retina, while VEGF staining was faint in the normoxia and PI-88-treated ones.

heparanase

hypoxia


Input: A region on chromosome 17 has recently been highlighted as linked to autism (MIM [209850]) in multiple studies and evidence has accumulated suggesting that male-only families (those families that have produced only affected males) provide the major contribution to linkage at this locus.

MIM

autism


Input: Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to severe, and the vestibular function is normal.

absent vestibular function


Input: Association studies of positional candidate genes have implicated DCDC2 and KIAA0319 in DYX2, as well as C2ORF3 and MRPL19 (DYX3), whereas DYX1C1/EKN1 (DYX1) and ROBO1 (DYX5) were found to be disrupted by rare translocation breakpoints in reading-disabled individuals.

translocation


Input: The A allele of the TNF-308 SNP was associated with increased risk of asthma [relative risk (RR) = 1. 54; 95% confidence interval (CI), 1. 04-2. 28], especially among children of non-smoking parents (RR = 2. 06; 95% CI, 1. 19-3. 55; p for interaction = 0. 09).

TNF

smoking


Input: Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

factor IX

haemophilia B

factor IX

haemophilia B


Input: FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I).

FKRP

FKRP


Input: For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful.

Leigh syndrome

Leigh syndrome


Input: In all subjects BMI, waist circumference, body composition by dual X-ray absorptometry, triglycerides, cholesterol, high-density lipoprotein cholesterol (HDL-Ch), glucose, insulin, homeostasis model assessment of insulin resistance (HOMA), high-sensitive C-reactive protein (hs-CRP), serum adiponectin, leptin and TNF-alpha were evaluated.

CRP

insulin resistance


Input: Moreover, the same impairment in p53 induction is observed after exposure to mitomycin C, a chemical agent for which FA cells demonstrate a specific cellular and chromosomal hypersensitivity, as well as after u. v.-B irradiation, an agent known to cause oxidative stress.

hypersensitivity


Input: The absence of the normal transcript in this cell line, in association with the loss-of-heterozygosity studies on chromosome 11q23 seen in solid tumors, suggests that ALL-1 is involved in tumorigenesis by a loss-of-function mechanism.

tumorigenesis


Input: Our results emphasize that the in vivo ECE-1-mediated degradation of CGRP promotes the transition from lung inflammation to fibrosis.

CGRP

fibrosis


Input: In the PhIP-induced colon tumors obtained after 1 year, Nox1, Nox4, NF & #954; B-p50 and NF & #954; B-p65 were all highly overexpressed compared with their levels in adjacent normal-looking colonic mucosa.

colon tumors

colon tumors


Input: Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients.

Gillespie syndrome

Gillespie syndrome


Input: The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC.

HCC

chronic hepatitis


Input: It was suggested that transfection with the antisense MBD1 gene eukaryotic expression plasmid can significantly reduce the expression level of MBD1 gene in QBC-939, and this study may provide a valid tool for the investigation of the function of MBD1 gene and its role in biliary tract carcinoma.

MBD1 gene

biliary tract carcinoma


Input: A previous study reported that intravenous injection of anti-HMGB1 monoclonal antibody significantly attenuated brain edema in a rat model of stroke, possibly by attenuating glial activation.

brain edema


Input: 50 patients [HCC (n = 19), liver metastasis (n = 19), cholangiocellular cancer (n = 7), and benign liver tumors (n = 5)] were studied for methylation using Methylight analysis.

HCC

liver metastasis


Input: We analyzed somatic genetic alterations of TP53 and p21 in 46 ovarian cancer patients with BRCA1 germline mutations and 93 sporadic patients, using direct sequencing for the entire coding sequences in TP53 and p21.

sporadic


Input: We have analyzed the loss of heterozygosity (LOH) of TP53 in a series of 96 sporadic colorectal carcinomas by means of PCR, using two microsatellite sequences (TP53 and Mfd152), to investigate its possible relationship with several clinicopathological variables in the Spanish population.

sporadic


Input: Western blotting, quantitative RT-PCR (qRT-PCR), ELISA, Immunohistochemistry, and flow-cytometric analysis were used to determine the key signaling pathway regulated by JAK2 for cervical cancer progression.

cervical cancer

cervical cancer


Input: We analyzed the possible association between aldosterone synthase (CYP11B2) T-344C polymorphism, which is associated with increased aldosterone activity, and the prevalence of atrial fibrillation (AF) in 196 consecutive patients who had symptomatic systolic heart failure (HF; left ventricular ejection fraction < 40%) for > or = 3 months before recruitment.

systolic heart failure


Input: CONCLUSION: Our multi-approach findings at the DNA, RNA and protein levels suggest that CAV-1 may play a critical role in HCC carcinogenesis, and serve as a target for HCC therapy.

CAV

carcinogenesis


Input: We selected 46 variants: (1) eight variants known to alter circulating levels of inflammatory proteins, including those in the IL18, IL1RN, IL6R, MIF, PAI1 (also known as SERPINE1) and CRP genes; and (2) 38 variants known to predispose to autoimmune diseases, including type 1 diabetes.

MIF

type 1 diabetes


Input: TGF-ß/Smad-3 independent up-regulation of CTGF may induce accumulation of ECM proteins and maintain fibrosis in chronic LS.

ECM

fibrosis


Input: Also, the data suggest that somatic mutation of FLASH is a rare event in gastric carcinomas.

FLASH

somatic mutation


Input: We report that p53 is required for the TNFalpha-mediated inhibition of myogenesis in vitro and contributes to muscle wasting in response to tumor load in vivo.

muscle wasting


Input: We hypothesized that it may be possible to detect the recurring MSH2 and MSH6 mutations in Jewish individuals with familial and sporadic gastric and pancreatic cancer.

sporadic


Input: We sought to determine whether the endothelial nitric oxide synthase (eNOS) T-786C single nucleotide polymorphism (SNP), implicated in cardiovascular disease susceptibility, could facilitate differentiation between small (< or = 5 mm) versus large (> or = 10 mm) ruptured aneurysms.

endothelial nitric oxide synthase

aneurysms


Input: New translocations in a case of atypical B-cell chronic lymphocytic leukemia: involvement of ATM, MLL, and TP53 genes.

B-cell chronic lymphocytic leukemia

B-cell chronic lymphocytic leukemia


Input: Our data show preliminary evidence that NSF may predispose not only to cocaine dependence, but also to an early onset of the dependence.

NSF

cocaine dependence

NSF

cocaine dependence


Input: A cohort of 98 patients with end stage renal disease (ESRD) awaiting kidney transplantation had pulse wave velocity (PWV) and augmentation index (AIX) examined by tonometry and endothelial dependent flow-mediated (FMD) and endothelial independent nitroglycerin-induced (NID) dilatory capacities of the brachial artery measured by ultrasound.

NID

end stage renal disease


Input: Our data argue that Arg1 plays a central role in the control of TB when NOS2 is rendered ineffective by hypoxia.

hypoxia


Input: Of 71 cases evaluated, 41 were " ULD-like " and five had SCARB2 mutations.

ULD

ULD


Input: However, there was no significant relationship between perilipin expression and blood NEFA, nor was there a significant relationship between perilipin expression and insulin resistance, using the insulin sensitivity index derived from the iv glucose tolerance test with minimal modeling.

NEFA

insulin resistance


Input: To determine the role of CSF hypocretin-1 in narcolepsy with and without cataplexy, Kleine-Levin syndrome (KLS), idiopathic and other hypersomnias, and several neurological conditions.

KLS

narcolepsy


Input: To clarify this issue, we investigated five families with typical neuroserpin inclusion bodies but with various neurological manifestations.

neuroserpin

neurological manifestations


Input: These data suggest that the LEP-2548A polymorphism may associate with the weight and BMI of the children with ISS and GHD.

LEP

weight


Input: The disappearance of the Apaf-1 and Caspase-9 gene was recovered by a cellular signaling inhibitor of protein kinase C, phosphatidylinositol 3-phosphate kinase and mitogen-activated protein kinase of the in vitro cultured human fibrosarcoma HT-1080 line.

fibrosarcoma


Input: These data indicate a long-lasting impairment of mGlu2/3 expression that may contribute to abnormal presynaptic plasticity, exaggerate glutamate release and hyperexcitability in temporal lobe epilepsy.

temporal lobe epilepsy

temporal lobe epilepsy


Input: One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically.

MRI

epilepsy


Input: In conclusion, the PS1 intronic polymorphism did not modify the risk for sporadic AD, neither independently nor synergistically with the APOE epsilon4 allele or ACT A allele, in Koreans.

ACT

sporadic


Input: Our results emphasized the usefulness of quantitative receptor determination suggesting the relative stability of EGF-R content during the clinical course of breast cancer, its independence from ER, its significant predictive and weak prognostic values, and a possible correlation with the aggressiveness of the disease, and response to non-endocrine treatments.

EGF

aggressiveness


Input: The most consistent results are the increased gastric cancer risk associated with IL1B and NAT1 variants, which may account for up to 48% of attributable risk of gastric cancer.

gastric cancer


Input: The prevention of both diabetes and thyroiditis by CD4 (+) CD45RC-peripheral cells and CD4 (+) CD8 (-) thymocytes therefore does not support the view that the mechanism of regulation involves a switch from a T helper cell type 1 (Th1) to a Th2-like response, but rather relies upon a specific suppression of the autoimmune responses involving TGF-beta and IL-4.

thyroiditis


Input: CSF miR-16 in MDD patients was significantly lower than that in controls.

MDD

MDD


Input: In this article, we considered the dihydrofolate reductase (DHFR) gene, previously seen implicated in NTDs, as a candidate for cleft lip with or without cleft palate (CL/P) risk.

DHFR

cleft palate


Input: We therefore studied HIF-1α overexpression in ductal carcinoma in situ (DCIS), an established precursor of invasive breast cancer. We used immunohistochemistry to examine the expression of the hypoxia markers HIF-1α, CAIX and Glut-1 in DCIS and available invasive carcinoma lesions of 32 BRCA1, 16 BRCA2 and 77 non-BRCA mutation-related cases.

invasive carcinoma


Input: Taken together, the results suggest a new role of selenium in mitigating tumorigenesis by targeting the MMR pathway, whereby the lack of hMLH1 renders the HCT 116 colorectal cancer cells resistant to selenium-induced DNA damage response.

MMR

tumorigenesis


Input: Nonketotic hyperglycinemia (NKH) is caused by a mutation in the genes encoding the components of the glycine cleavage multi-enzyme system.

Nonketotic hyperglycinemia

NKH

Nonketotic hyperglycinemia

NKH


Input: Values for tail length, tail DNA, CDM and OTM were modelled as categorical variables using the 50th and 75th percentiles of the seminoma group.

OTM

seminoma


Input: The influence of less severe hypoxia on the efficacy of CHK1 inhibitors, administered either as single agents or in combination with other treatments, remains to be investigated.

hypoxia


Input: To follow proinsulin immunoreactive material (PIM) in healthy siblings from the time of diagnosis of insulin-dependent diabetes mellitus (IDDM) in the proband, for at least 2 years.

PIM

insulin-dependent diabetes mellitus


Input: In conclusion, this study has shown that increased myocardial expression of CYP11B2 mRNA is associated with increased myocardial fibrosis and with the severity of left ventricular dysfunction in human CHF.

myocardial fibrosis


Input: Loss of the Grx1 homolog also exacerbated the neurodegenerative phenotype in other C. elegans models, including overexpression of human α-synuclein and overexpression of tyrosine hydroxylase (a model of sporadic PD).

sporadic


Input: METHODS: Fasting lipid profiles, insulin sensitivity, insulin secretion, anthropometrics, blood pressure and 10 gene variations of the TCF7L2 gene were determined in 450 subjects with MetS.

TCF7L2 gene

blood pressure


Input: Furthermore, PGG reduced expression of phosphoinositide 3-kinase (PI3K) as well as phosphorylation of AKT and mammalian target of rapamycin (mTOR), but not extracellular signal-regulated kinase (ERK) in LNCaP cells under hypoxic condition.

mammalian target of rapamycin

hypoxic


Input: Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome.

Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome


Input: Presenile familial AD (FAD) and sporadic Alzheimer' s disease (SAD) have identical brain lesions, containing senile plaques with beta-amyloid (Abeta) peptide and neurofibrillary tangles formed by hyperphosphorylation of a microtubule-associated protein known as tau.

FAD

sporadic


Input: Reverse transcription-polymerase chain reaction followed by agarose gel electrophoresis, single strand conformation polymorphism analysis, and automated deoxyribonucleic acid sequence analysis were used to screen for mutations in the NF2 gene transcript in seven unrelated patients with sporadic intramedullary spinal cord ependymomas.

NF2 gene

sporadic


Input: We carried out a 2-stage case-control study to examine the association between CDH7 and MDD in the Han Chinese population.

MDD

MDD


Input: A number of genetic defects have recently been identified in primary aldosteronism, whereas we identified mutations in ARMC5, a tumor-suppressor gene, in cortisol-producing primary macronodular adrenal hyperplasia.

primary macronodular adrenal hyperplasia

primary macronodular adrenal hyperplasia


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.

diabetes


Input: It has been reported that transformation of melanocytes is associated with altered expression of adhesion molecules suggesting the potential involment of NECL-5 in melanoma development and prognosis.

adhesion


Input: Ataxia-telangiectasia and rad3 (ATR)-related Seckel syndrome is associated with growth retardation and premature aging features.

ATR

premature aging


Input: In cohort 1, retinoid X receptor-α (RXRA) chr9: 136355885 + and endothelial nitric oxide synthase (eNOS) chr7: 150315553 + methylation had independent associations with sex-adjusted childhood fat mass (exponentiated regression coefficient [β] 17% per SD change in methylation [95% CI 4-31], P = 0. 009, n = 64, and β = 20% [9-32], P < 0. 001, n = 66, respectively) and% fat mass (β = 10% [1-19], P = 0. 023, n = 64 and β = 12% [4-20], P = 0. 002, n = 66, respectively).

RXRA

regression


Input: The increase in GAT-1-ir somata in the CRH model and not in the hyperthermia model may reflect the difference in the duration of seizures.

CRH

seizures

CRH

seizures


Input: PON-1 and ferroxidase activities in older patients with mild cognitive impairment, late onset Alzheimer' s disease or vascular dementia.

ferroxidase

vascular dementia


Input: A similar virus enhancement ratio of 1. 2-1. 3 was observed for both oxic and hypoxic cells irradiated with multiple doses; however, these values were smaller than the values found for dominant-negative Ku70-transfected Rat-1 cells.

hypoxic


Input: Region specific decrease in glial fibrillary acidic protein immunoreactivity in the brain of a rat model of depression.

glial fibrillary acidic protein

depression

glial fibrillary acidic protein

depression


Input: As the RECQL4 gene is localized to chromosome 8q24, a site frequently amplified in sporadic breast cancers, we hypothesized that it may play an oncogenic role in breast tumourigenesis.

RECQL4 gene

sporadic


Input: Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.

obese

obese


Input: There were no differences in age, sex, AAP exposure, or body mass index between genotype groups.

AAP

body mass index


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

tumorigenesis


Input: In congenital hyperlipidemic mice, immunohistochemistry and RT-PCR demonstrated that ACAT2 was also present in lipid-laden cells of the atheromatous plaques.

atheromatous plaques


Input: A total of 2, 189 individuals (65%) were eligible for testing, since they had no valid diagnosis, cerebral palsy, or a previous test for the FMR1 gene mutation.

FMR1 gene

cerebral palsy


Input: The rat model confirms Pde4d' s role in depression but not in spatial learning or memory enhancement and shows for the first time higher fear conditioning and altered extinction compared with controls.

depression

depression


Input: These results indicate that there are different oncogenic pathways in the MSI sporadic colorectal cancers with germline missense mutations in the hMSH2 gene.

colorectal cancers

colorectal cancers


Input: We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.

thymic stromal lymphopoietin

neutrophilia


Input: CONCLUSIONS: CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients.

sporadic


Input: We report here that this breakpoint is located within a 19 kb intron of the hREC2 gene and that the translocation results in the premature truncation of the major hREC2 transcript.

translocation