Input: Reconstituted HDL infusions act in an ABCG4-dependent fashion to limit hypercholesterolemia-driven excessive platelet production, thrombosis, and atherogenesis, as occurs in human myeloproliferative syndromes.

atherogenesis


Input: We searched all the publications about the association between CTLA-4) promoter exon-1 + 49 and 1722T/C polymorphism and SLE from PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang (Chinese).

SLE

SLE


Input: These data provide critical information for AC5 activation as a candidate target for the treatment of alcoholism.

alcoholism

alcoholism


Input: Pressure stimulated translocation of AKT1, but not AKT2 to the plasma membrane.

translocation


Input: Based on the clinical data, we analyzed the clinical value of varied NER genes and smoking in 219 bladder cancers by the Kaplan-Meier method and Cox proportional hazards regression.

NER

smoking


Input: No data have been yet provided to show that diabetes-induced cognitive decline is actually associated with increased activity of MMP-9, however, so we sought to understand the potential role of NF-κB-MMP-9 pathway in diabetic rats' brain.

NF-κB

cognitive decline


Input: A discriminant function of four miRNAs (miR-140-5p, miR-423-5p, miR-195, and miR-126) was specific for T2D with an accuracy of 89. 2% (P & lt; 0. 0001).


Input: Therefore we hypothesize that upregulation of NAA stimulates NOS and the resulting nitric oxide toxicity induces ASPA mutations and protein interaction to result pathophysiological abnormalities seen in patients with CD.

ASPA

abnormalities


Input: To investigate whether genetic alterations of LKB1 could be involved in the tumorigenesis of HCC, we analysed the genetic alterations of the LKB1 and p53 genes in seven dysplastic nodules and 80 HCCs.

tumorigenesis


Input: There was a strong and significant correlation between midbrain atrophy and the severity of neurological symptoms (r =-0. 68, p < 0. 001) while midbrain atrophy and dopamine transporter binding correlated significantly but was less pronounced (r = 0. 46, p < 0. 001).

dopamine transporter

neurological symptoms


Input: A follow-up study of the patient' s bone marrow at the end of induction therapy showed no morphologic evidence of residual leukemia and both FISH and chromosome analyses were normal.

FISH

leukemia


Input: Collectively, E47 is a novel substrate of PAK5, and PAK5-mediated phosphorylation of E47 promotes EMT and metastasis of colon cancer, suggesting that phosphorylated E47 on Ser39 may be a potential therapeutic target in progressive colon cancer.

colon cancer


Input: The presence of VEGF mRNA may be a marker for radiobiologic hypoxia.

VEGF

hypoxia


Input: As in the white matter, the mean GFAP mRNA levels were decreased in individuals with schizophrenia and bipolar disorder as compared with the unaffected controls, however the difference failed to reach statistical significance.

GFAP

bipolar disorder

GFAP

bipolar disorder


Input: In acute bacterial meningitis, sICAM-1 levels as high as 1/5 of the serum concentration were detected in the CSF (n = 24; mean +/-SD = 33. 0 +/-23. 7 ng ml-1; range: 4. 8-93. 9 ng ml-1).

bacterial meningitis


Input: Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

OTOA

hearing impairment

OTOA

hearing impairment


Input: We wished to determine if the inflammatory cells surrounding the airway mucus-secreting glands in chronic bronchitis (CB) were associated with interleukin (IL)-4 and IL-5 mRNA expression and whether the CD8 T cell population expressed these cytokines.

chronic bronchitis


Input: Western blot analyses were negative for cleaved PARP in lysates from CD44 (sol) cells, suggesting resistance to apoptosis.

sol


Input: Dopamine receptor genes (DRD2, DRD3 and DRD4) and gene-gene interactions associated with smoking-related behaviors.

smoking


Input: Compared with MCAO group, By-H group significantly ameliorated neurological deficit, lessened the infarct volume and brain edema, increased the expression of Nrf2, HO-1 and SOD1 (P < 0. 05), and decreased the content of MDA (P < 0. 05).

neurological deficit


Input: Histone methyltransferase EZH2 induces Akt-dependent genomic instability and BRCA1 inhibition in breast cancer.

genomic instability


Input: KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness.

MIM

skin lesions


Input: AML1/Runx1, originally identified as a gene located at the breakpoint of the t (8; 21) translocation, encodes a transcription factor that is widely expressed in multiple hematopoietic lineages and that regulates the expression of a variety of hematopoietic genes.

translocation


Input: Neuropeptide Y (NPY), one of the most abundant peptide transmitters in the mammalian brain, is assumed to play an important role in feeding and body weight regulation.

NPY

body weight


Input: Immunofluorescent staining of human primary and secondary breast tumours showed significant correlation between SK1 and IL-6 (P < 0. 001), SK1 and p-STAT3 (P < 0. 01) and IL-6 and p-STAT3 (P < 0. 01).

secondary


Input: PCAF is an HIF-1alpha cofactor that regulates p53 transcriptional activity in hypoxia.

PCAF

hypoxia


Input: These findings suggest that SIRT2 inhibition triggers necrosis of merlin-mutant MSCs and that SIRT2 is a potential NF2 drug target.

necrosis


Input: To determine if p66 (Shc) is similarly regulated in primates and in bronchopulmonary dysplasia (BPD), which results from oxidative injury to immature lungs.

bronchopulmonary dysplasia


Input: Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

desmin

desminopathy

desmin

desminopathy


Input: Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1. 2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3. 7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2. 5-4. 8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7. 6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5. 5E-08 to 1. 0E-09); a nonsynonymous SNP (p = 1. 3E-21), an intronic SNP (p = 3. 6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5. 0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2. 7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6. 0E-08).

body weight


Input: In the same rats the cataleptic response to beta-endorphin was antagonized as well; however no definitive conclusion could be made regarding the antagonism of the morphine-induced catalepsy.

beta-endorphin

catalepsy

beta-endorphin

catalepsy


Input: In a case-control study involving 50 MS patients, and 50 healthy control individuals for which plasma vitamin D levels, supplement use, vitamin D receptor (VDR) variants, and skin pigmentation indices were ascertained; we found overall vitamin D levels to be deficient in both groups, and supplement use to be common practice.

VDR

skin pigmentation


Input: Plasma levels of CXCL13 in HIV-1-infected antiretroviral therapy-naive subjects correlated with viral load and were higher compared with antiretroviral therapy-treated HIV-1-infected and HIV-1-uninfected subjects.

viral load


Input: Epithelial-to-mesenchymal transition-like (EMT-like) is a critical process allowing initiation of metastases during tumour progression.

EMT

tumour progression


Input: Furthermore, because the amino acid substitutions in the Tat and Rev were identical to those previously reported for the nonpathogenic SHIV (PPc), our results indicate that amino acid substitutions in the Env and/or Nef were responsible for the observed CD4 (+) T cell loss and neurological disease after inoculation with this molecular clone.

neurological disease


Input: In particular, 4 genes of them, which were cytochrome C oxidase Va, PPBP, EPHX2 and PON1, were first reported to correlate with tumorigenesis.

tumorigenesis


Input: Among metabolic syndrome components, LBP concentrations were independently associated with abdominal obesity (P = 0. 002) and low concentrations of HDL-cholesterol (P & lt; 0. 001).

LBP

metabolic syndrome

LBP

metabolic syndrome


Input: mRNA expression level) was related to poor differentiation grade, distant metastasis, and small cell carcinoma histologic type (ANOVA, p < 0. 05).

ANOVA

small cell carcinoma


Input: In contrast, we observed that serum IFN production was abrogated and that the viral load in nonneural tissues and mortality rates were both markedly higher in TIR domain-containing adaptor-inducing IFN-β (TRIF)-deficient and TLR3-deficient mice than in wild-type mice.

TRIF

viral load


Input: In our case, a novel mutation of lamin A/C presented in the typical form of cardiolaminopathy with ventricular tachycardia and mild myocardial dysfunction in an apparently healthy, middle-aged individual.

lamin A/C

mild


Input: Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy.

factor V Leiden

muscular dystrophy


Input: However, we now demonstrate that patients can develop a myopathy with histologic features of myofibrillar myopathy with aggregates and rimmed vacuoles, similar to the pathology in myopathies due to gene defects in other compounds of the CASA complex such as BAG3 and DNAJB6 after developing the early neurogenic effects.

CASA

myofibrillar myopathy


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

inhalation


Input: It was performed a family-based association study of 6 single nucleotide polymorphisms (SNPs) from the TPH2 with autism spectrum disorder (ASD) in 151 Korean trios.

autism spectrum disorder


Input: We report here three new cases presenting a t (9; 14) (p13; q32) with other chromosomal abnormalities which have been referred to as B-cell low-grade or high-grade malignant lymphoproliferative disorders.

lymphoproliferative disorders


Input: The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran.

MIM

familial breast cancer


Input: One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.

major depression

major depression


Input: This is the case report of a patient with Wolf' s syndrome having a monosomy 4pter----p15. 3 and an additional trisomy 8pter----p22, derived from a maternal balanced translocation t (4; 8) (p15. 3; p22) after 2: 2 disjunction and adjacent-1 segregation.

monosomy


Input: Because gastrointestinal inflammation is known to enhance anxiety, we explored whether experimental colitis interacts with genetic deletion (knockout) of PYY and NPY to alter emotional-affective behaviour.

PYY

colitis


Input: Twenty-four-hour DBP and MBP, LVM, LVM: height ratio, insulin level, insulin: glucose ratio and PRA were significantly higher in subgroup A than in subgroup B. Fasting blood sugar level, 24-h DBP and MBP, insulin level, insulin: glucose ratio, PRA, noradrenaline, adrenaline and plasma aldosterone levels were significantly higher in subgroup C than in subgroup D. Multivariate analysis also indicated that 24-h MBP and PRA levels were significantly influenced by the association between a positive family history of hypertension and obesity.

PRA

height


Input: Microdeletion of the chromosomal subband 22q11. 22 was detected in 17 children by high-resolution banding and in two additional children with conotruncal defect (CTD) who had submicroscopic deletions proved by FISH analyses.

FISH

conotruncal defect


Input: Methylation of GSTP1, RARB, CD44, ECAD and RASSF1A, but not of EDNRB was detected at a statistically higher frequency in prostate cancer than in the benign prostatic hypertrophy specimens.

benign prostatic hypertrophy


Input: hMena (ENAH), an actin regulatory protein involved in the control of cell motility and adhesion, is modulated during human breast carcinogenesis.

ENAH

adhesion


Input: CLDN1 increased expressions of cancer invasion/metastasis suppressors (e. g., connective tissue growth factor [CTGF], thrombospondin 1 [THBS1], deleted in liver cancer 1 [DLC1], occludin [OCLN], zona occludens 1 [ZO-1]) and suppressed expressions of invasion/metastasis enhancers (e. g., secreted phosphoprotein 1 [SPP1], cut-like homeobox 1 [CUTL1], transforming growth factor alpha [TGF-alpha], solute carrier family 2 [faciliated glucose transporter] member 3 [SLC2A3], placental growth factor [PGF]), supporting a role for CLDN1 as an invasion and metastasis suppressor.

metastasis


Input: Asthmatic airway neutrophilia after allergen challenge is associated with the glutathione S-transferase M1 genotype.

glutathione S-transferase M1

neutrophilia


Input: Both tumor-associated macrophages (TAMs) and the epithelial to mesenchymal transition (EMT) of cancer cells play key roles in promoting tumor progression.

EMT

tumor progression


Input: & lt; i & gt; ABCC6 & lt;/i & gt; (formerly known as & lt; i & gt; MRP6 & lt;/i & gt;), which encodes the ATP-binding cassette protein multidrug resistance-associated protein 6, is the only gene known to be associated with PXE.

multidrug resistance-associated protein 6

PXE

multidrug resistance-associated protein 6

PXE


Input: Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1, 4-glucosidase (GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25. 2-q 25. 3).

GAA

Glycogen storage disease type II

GAA

Glycogen storage disease type II


Input: The current study examined the molecular mechanisms involved in PPARγ-regulated, hypoxia-induced Nox4 expression in human pulmonary artery smooth muscle cells (HPASMC).

PPARγ

hypoxia


Input: Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

HRAS

nevus sebaceous

HRAS

nevus sebaceous


Input: Reduced complex formation of mutant E-cadherin-with an in frame deletion of exon 8 in the extracellular domain resulting in reduced adhesion and increased motility-with EGFR was observed compared with wild-type E-cadherin.

EGFR

adhesion


Input: TNF-alpha and IL-1 beta are preferentially up-regulated, compared with IL-6 and TF, in unstimulated monocytes in asymptomatic persons, with a loss of up-regulation as patients progress to AIDS.

asymptomatic


Input: Our data firstly indicate that XRCC4 may be a potential protective gene towards schizophrenia, conferring reduced susceptibility to colorectal cancer in the Han Chinese population.

schizophrenia

schizophrenia


Input: Last, the in vivo silencing efficacy of SAMiRNAs was evaluated by targeting amphiregulin and connective tissue growth factor in bleomycin or TGF-& #946; transgenic animal models of pulmonary fibrosis.

amphiregulin

pulmonary fibrosis

amphiregulin

pulmonary fibrosis


Input: Finally, plasma Angptl4 was independently and negatively associated with carotid artery sclerosis measured by 3-T MRI in subjects with metabolic syndrome and low-grade systemic inflammation.

sclerosis


Input: Similarly to immunohistochemical results, PAR-1 mRNA expression was significantly higher in atypical nevi and melanomas in comparison with common nevi and controls.

nevi


Input: AAV-mediated delivery of CNTF may have implications for the treatment of human retinal degeneration.

AAV

retinal degeneration


Input: In contrast, VEGF transcripts were seen in specimens with evidence of acute ischemia or evolving infarction (onset, 24 to 120 hours before surgery).

VEGF

infarction


Input: Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Mucolipidosis type IV

Mucolipidosis type IV


Input: To examine the hypoxia responsiveness of the VEGF promoter, lung cancer cells were transiently exposed to hypoxia; this treatment increased enhanced green fluorescent protein (EGFP) expression after AdVEGFEGFP infection in both normal and cancer cell lines, and enhanced apoptosis and decreased the number of surviving cancer cells compared with the Ad/BAX plus Ad/Cre binary adenoviral system.

VEGF

hypoxia


Input: Recently, a translocation t (2; 3) (q13; p25), leading to the formation of a chimeric PAX8-peroxisome proliferator-activated receptor (PPAR) gamma 1 oncogene, was detected in follicular thyroid carcinomas (FTC), but not in follicular thyroid adenomas (FTA), papillary thyroid carcinomas (PTC), or multinodular hyperplasias.

PPAR

translocation


Input: It is concluded from the present study that the reduction of angiotensin II by captopril might contribute to the worsening of anemia seen in chronic hemodialysis patients.

angiotensin II

anemia

angiotensin II

anemia


Input: The remaining Hspg2-/-mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities.

craniofacial abnormalities

craniofacial abnormalities


Input: Although these variants do not yet provide definitive evidence that they are causal, the results imply a role of the FZD4 and LRP5 genes in the development of advanced ROP.

ROP

ROP


Input: CBR1 overexpression, siRNA, and inhibitors were used to study the role of CBR1 in tumor survival under hypoxia and chemoresistance to cisplatin and doxorubicin in HCC.

hypoxia


Input: Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Brown-Vialetto-Van Laere syndrome

Brown-Vialetto-Van Laere syndrome


Input: However, unlike the case of Brca1-mutant cells, Trp53bp1 deletion failed to rescue the genomic instability of Palb2-or Brca2-mutant primary lymphocytes.

genomic instability


Input: Our in vivo study indicates that PAR-1 and PAR-2 are expressed in cells involved in physiological and pathological scar formation and suggests that in vitro overexpression and exaggerated functional response of PAR-2 may play a role in the function of myofibroblasts in scar evolution from a physiological repair process to a pathological tissue response.

scar


Input: The search terms FISH, fluorescence in situ hybridization, DIA, digital image analysis and cholangiocarcinoma were used.

FISH

cholangiocarcinoma


Input: Our results showed that there was a significant decrease in glandular expression of ANXA1 in ductal carcinoma in situ and invasive ductal carcinoma compared with either normal breast tissue or hyperplasia (P <. 0001).

ductal carcinoma in situ


Input: The additive effect of angiotensin II and aldosterone maximizes sodium reabsorption during hypovolemia, whereas the inhibitory effect of potassium on NCC increases delivery of sodium to the potassium-secreting portion of the nephron.

angiotensin II

hypovolemia


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

Meier-Gorlin syndrome

Meier-Gorlin syndrome


Input: Our work demonstrates a function for AKR1C3 in differentiation-associated gene regulation and also suggests a role in supporting inflammation in AD.

inflammation


Input: Growth differentiation factor 15, a marker of lung involvement in systemic sclerosis, is involved in fibrosis development but is not indispensable for fibrosis development.

Growth differentiation factor 15

fibrosis


Input: Finally, we have demonstrated reduced synthesis and secretion of tropoelastin by skin fibroblasts from the same SVAS patient.

tropoelastin

SVAS

tropoelastin

SVAS


Input: Here, we show that deregulated expression of AID causes widespread genome instability, which alone is insufficient to induce B cell lymphoma; transformation requires concomitant loss of the tumor suppressor p53.

AID

genome instability


Input: Here we report the first study to investigate whether IRF6 variation is associated with palatine rugae patterns in a population with sporadic tooth agenesis.

tooth agenesis


Input: We compared vector control and EGFR-antisense cells for cell morphology and adhesion by light microscopy, expression of alpha (6)-and alpha (3)-integrin subunits by flow cytometry, MMP and tissue inhibitor of MMP (TIMP) activity by zymography, and migration by a wound migration assay.

EGFR

adhesion


Input: EPO treatment decreased hypoxia-induced HIF-1alpha protein levels and VEGF transcription, with no effect on cell growth.

VEGF

hypoxia


Input: Expression patterns of the TP53 inhibitor MDM4 have not been reported in BL, and increased MDM4 could deregulate the TP53 pathway in cases without TP53 or MDM2 abnormalities.

abnormalities


Input: CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

mosaic variegated aneuploidy syndrome

mosaic variegated aneuploidy syndrome


Input: No interactions were detected between smoking and either MAO-A EcoRV or DRD2 Taq1B genotypes.

smoking


Input: Role of fragile histidine triad protein expression in pathogenesis of malignant pleural mesothelioma.

fragile histidine triad protein

mesothelioma

fragile histidine triad protein

mesothelioma


Input: Meta-analyses of SDR (≥ severe non-proliferative diabetic retinopathy (NPDR) or history of panretinal photocoagulation) and MDR (≥ mild NPDR), defined based on seven-field stereoscopic fundus photographs, were performed in two well-characterized type 1 diabetes (T1D) cohorts: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC, n = 1, 304) and Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR, n = 603).

SDR

type 1 diabetes


Input: Our results indicate that the olfactory system of STOP null mice is a well-suited experimental model (1) for the study of the mechanism of action of STOP protein in synaptic function/plasticity and (2) for pathophysiological studies of the mechanisms of altered neuronal connections in schizophrenia.

STOP

schizophrenia

STOP

schizophrenia


Input: We sought to study the relationship of Rgs2 expression level to depression and anxiety-like behavioural features, sociability and brain 5-HT1A and 5-HT1B receptor expression.

depression

depression


Input: Novel role of human CD4 molecule identified in neurodegeneration.

CD4 molecule

neurodegeneration

CD4 molecule

neurodegeneration


Input: Little is known, however, about the occurrence and nature of somatic alterations (2nd-hit) in SMAD4-/BMPR1A-related juvenile polyps.

hit


Input: This second locus may be involved in sporadic cases of muscular dystrophy with adhalin deficiency that have been reported in Europe.

adhalin

sporadic


Input: De novo p. Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

paralysis


Input: Melatonin at a pharmacological concentration (1 mM) decreases cellular and secreted VEGF levels, and prevents HUVECs tube formation under hypoxia, associated with a reduction in Hif1α protein expression, nuclear localisation, and transcriptional activity.

VEGF

hypoxia


Input: To our knowledge, this is the first report of a germline gross deletion of the & lt; i & gt; CDKN2A-CDKN2B & lt;/i & gt; locus in an LFS family.

LFS

LFS


Input: As the liver represents a major target organ for thyroid hormone action, we compared the expression of thyroid hormone receptor (TR) alpha and beta variants in normal human liver and liver affected by primary biliary cirrhosis, sclerosing cholangitis, cryptogenic cirrhosis, and alcoholic cirrhosis (n = 6 in each group).

hormone receptor

cryptogenic cirrhosis


Input: Recently, we reported the high incidence of somatic mutations in the AML1/RUNX1 gene, which is a critical regulator of definitive hematopoiesis and the most frequent target for translocation of AML, in MDS, especially refractory anemia with excess blasts (RAEB), RAEB in transformation (RAEBt) and AML following MDS (defined here as MDS/AML).

RUNX1 gene

translocation


Input: [2006] reported a TWIST Box " nondisease-causing polymorphism " in a patient with isolated sagittal synostosis.

TWIST

sagittal synostosis

TWIST

sagittal synostosis


Input: Two variations of PPARG (P12A [rs1801282] and C161T [rs3856806]) were investigated in two independent case-control studies with a total of 832 melanoma patients and 790 control individuals.

melanoma


Input: We investigated the association of CCL11 gene polymorphism rs4795895-1382A > G with ischemic and hemorrhagic stroke.

CCL11 gene

hemorrhagic stroke


Input: Erythrogenic toxin type A (ETA) is assumed to play a causative role in both scarlet fever and the streptococcal toxic shock-like syndrome (TSLS).

ETA

scarlet fever


Input: When reintroduced into renal carcinoma cells that lack a wild-type VHL allele, pVHL18 suppresses basal levels of VEGF expression, restores hypoxia-inducibility of VEGF expression, and inhibits tumor formation in nude mice.

VEGF

hypoxia


Input: Increases in ASMC proliferation, migration, and cytoplasmic Ca2 + concentration are critical to airway remodeling and hyper-responsiveness.

airway remodeling


Input: Although most leukemias were acute myeloid leukemia, many showed lymphoid features, such as CD3 staining, or clonal Tcrb or Igh gene rearrangements.

Tcrb

acute myeloid leukemia


Input: Hepatocyte growth factor delivered by ultrasound-mediated destruction of microbubbles induces proliferation of cardiomyocytes and amelioration of left ventricular contractile function in Doxorubicin-induced cardiomyopathy.

Hepatocyte growth factor

cardiomyopathy

Hepatocyte growth factor

cardiomyopathy


Input: ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

myotonia congenita

myotonia congenita


Input: In an effort to improve the therapeutic effect of a MAb-based regimen in colorectal carcinoma (CRC) patients, the effects of a combination of alpha-interferon (alpha-IFN), 5-fluorouracil (5-FU), granulocyte-macrophage colony-stimulating factor (GM-CSF) and mouse MAb17-1A was evaluated in 27 patients with metastatic disease. alpha-IFN was given s. c. once daily for 5 consecutive days and at days 4 and 5, 5-FU was administered as a daily i. v. bolus injection.

IFN

colorectal carcinoma

IFN

colorectal carcinoma


Input: Increased central hypothalamic levels of neuropeptide Y in food-restricted rats suggest that this peptide may help to defend body weight by stimulating eating after weight loss.

neuropeptide Y

body weight


Input: A total of 14 lymphocytic leukemia patients were examined, seven with acute lymphocytic leukemia (ALL), two with adult T-cell leukemia (ATL), two with B-chronic lymphocytic leukemia (CLL), two with chronic myelocytic leukemia in lymphoid blastic crisis (CML-LBC), and one with plasma cell leukemia (PCL).

LBC

lymphocytic leukemia


Input: CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

CDG-IL

CDG-IL


Input: The aim of this study was to investigate the relationships among vitamin D receptor (VDR) gene polymorphism, parathyroid hormone (PTH) levels and bone density in renal transplant recipients.

PTH

bone density


Input: To investigate the possible contribution of rare variants to the development of substance dependencies other than nicotine dependence, specifically alcohol and cocaine dependence, we undertook pooled sequencing of the coding regions and flanking sequence of CHRNA5, CHRNA3, CHRNB4, CHRNA6 and CHRNB3 in 287 African American and 1028 European American individuals from the Collaborative Study of the Genetics of Alcoholism (COGA).

cocaine dependence

cocaine dependence


Input: Gene transcripts of TNFα were lower among patients with severe sepsis/shock than among patients with sepsis; that was not the case for TREM-1.

shock


Input: NOS1AP variants were significantly associated with the occurrence of symptoms (rs4657139, P = 0. 019; rs16847548, P = 0. 003), with clinical severity, as manifested by a greater probability for cardiac arrest and sudden death (rs4657139, P = 0. 028; rs16847548, P = 0. 014), and with greater likelihood of having a QT interval in the top 40% of values among all mutation carriers (rs4657139, P = 0. 03; rs16847548, P = 0. 03).

sudden death


Input: We investigated relationships between DNA copy number aberrations and chromosomal structural rearrangements in 11 different cell lines derived from oral squamous cell carcinoma (OSCC) by comparative genomic hybridization (CGH), spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH).

SKY

squamous cell carcinoma


Input: Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia.

bipolar affective disorder

bipolar affective disorder


Input: Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

enlarged vestibular aqueduct

enlarged vestibular aqueduct


Input: Inhibition of NF-& #954; B by expression of an I & #954; B & #945; super-repressor (I & #954; B & #945; SR) transgene in hepatocytes was shown to prevent HCC development in Mdr2 (-/-) mice, suggesting that NF-& #954; B acts as a tumour promoter in this model of inflammation-associated carcinogenesis.

inflammation

inflammation


Input: Patient 3 was diagnosed as Xp21 contiguous gene syndrome associated with deletions of the entire IL1RAPL, GK genes and the C-terminal region of DMD gene.

DMD gene

contiguous gene syndrome


Input: The phosphatidylinositol-3 kinase/Akt (PI3K/Akt) pathway is involved in TNF-α signaling and contributes to airway hyperresponsiveness and airway remodeling.

airway remodeling


Input: Papillon-Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth.

CTSC

psoriasiform lesion


Input: In conclusion, our data further support a role for P11 in depression-like states and suggest that this gene is controlled by epigenetic mechanisms that can be affected by antidepressant treatment.

depression

depression


Input: Sorafenib is the standard systemic therapy for unresectable or recurrent hepatocellular carcinoma (HCC) but adds minimal increase in survival.

HCC

recurrent hepatocellular carcinoma


Input: FKBP6 has a putative N-terminal FK-506 binding and peptidylproyl isomerase (rotamase) domain and, like known high-molecular-weight FKBPs, an imperfect C-terminal tetratricopeptide repeat domain.

rotamase

weight


Input: Thus, NR4A3 and NR4A1 are attractive novel therapeutic targets for potential amelioration of insulin resistance, and treatment and prevention of type 2 diabetes and the metabolic syndrome.

insulin resistance

insulin resistance


Input: Patients were stratified by smoking, histology, and EGFR status.

EGFR

smoking


Input: IL-17A involves the ALI induced by LPS or PQ and promotes the pathological process by activating NF-& #954; B P65 and recruiting neutrophils, which enlarges the cascade effect of inflammation and injures lung tissues.

ALI

ALI


Input: This SRC-3 overexpression frequency was similar to the overexpression frequency observed for squamous cell carcinoma and adenocarcinoma (82. 1% vs 90%) and for metastasis and non-metastasis patients (84. 6% vs 85. 7%).

adenocarcinoma

adenocarcinoma


Input: Thymidylate synthase, thymidine phosphorylase, dihydropyrimidine dehydrogenase expression, and histological tumour regression after 5-FU-based neo-adjuvant chemoradiotherapy in rectal cancer.

dihydropyrimidine dehydrogenase

regression


Input: Here we report the screening of the TPIT gene in seven patients with IAD, four of whom had neonatal onset.

TPIT

IAD

TPIT

IAD


Input: Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

alpha-mannosidosis

alpha-mannosidosis


Input: Mature granulomas were seen, surrounded by T cells and centered with epithelioid and multinucleated giant cells, yet reduced IFN-gamma concentrations were found to be secreted by activated natural killer and T cells.

IFN

granulomas


Input: Atrophic antral gastritis (AAG) was associated with CagA (+) status [odd ratio (OR) = 4. 1; P < 0. 000] and fruit consumption (OR = 0. 3; P < 0. 00).

AAG

gastritis


Input: Western blot analysis reveals that phosphorylation of Akt/protein kinase B (PKB) and to a lesser extent the mitogen-activated protein kinase extracellular signal-regulated kinase (ERK) 1/2, both essentially involved in Ang II-mediated hypertrophy, is dose dependently reduced by RV.

ERK

hypertrophy


Input: They contain neutral/MUC1 gene-related mucin which in turn is closely associated with the trefoil-peptide pS2, a major component of the ulcer-associated cell lineage, previously termed pseudopyloric metaplasia.

MUC1 gene

ulcer


Input: These findings not only explain the beneficial effects of DHA/EPA, but also point to ERK/STAT3/MMP10 as the potential targets for gastric cancer treatment.

gastric cancer

gastric cancer


Input: PTEN is a novel tumour suppressor gene that encodes a dual-specificity phosphatase with homology to adhesion molecules tensin and auxillin.

tensin

adhesion


Input: Fibroblast growth factor-2 (FGF2) has been implied in the development of myopia according to previous studies investigating FGF2 in the sclera and retinal pigment epithelium.

myopia


Input: To explore the association of STON2 with schizophrenia, 11 single nucleotide polymorphisms (SNPs) were examined in 768 Chinese Han schizophrenia cases and 1347 Chinese Han controls.

schizophrenia, 11

schizophrenia, 11


Input: We established a cisplatin-resistant U87 glioma cell line and found that mda-7/IL-24 was highly correlated with drug resistance.

glioma


Input: In a cohort of individuals with SCD in Tanzania (HbSS and HbS/β ° thalassemia, n = 726, aged 5 or older), HbF levels were positively correlated with hemoglobin, red blood cell (RBC) indices, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH), and negatively with white blood cell (WBC) and platelet counts (all P < 0. 0001).

MCH

mean corpuscular volume


Input: In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.

PNDM

PNDM


Input: Carriers of the IL-1B-511T/T genotype or IL-1RN * 2 allele had higher mucosal IL-1beta levels than noncarriers (partial regression coefficient [PRC] +/-SE), TT versus CC: 37. 6 +/-6 [antrum] and 32. 1 +/-6 [corpus] pg/mg protein (P < 0. 001 for each), * 1/* 2 versus * 1/* 1: 24 +/-8 [antrum] (P < 0. 01) and 36. 5 +/-7 [corpus] (P < 0. 001).

regression


Input: We have previously reported a high incidence of microsatellite instability (MSI) and germline mismatch repair (MMR) gene mutations in young Hong Kong Chinese with CRC.

MMR

microsatellite instability


Input: Similarly, STZ diabetic mgR/mgR and mgR/+ developed lower albuminuria than wild-type mice despite higher blood glucose levels in mgR/mgR and mgR/+ compared with wild-type mice.

STZ

albuminuria


Input: In 1, 282 patients with AD and 1, 312 healthy control subjects from five independent populations, a common variation in the vicinity of CH25H was significantly associated with the risk for sporadic AD (p = 0. 006).

sporadic


Input: Our study suggests that a DPP-IV inhibitor may prevent peripheral nerve degeneration in a diabetes-induced animal model and support the idea that GLP-1 may be useful in peripheral neuropathy.

DPP

nerve degeneration


Input: In this study, we have used quantitative proteomics, iTRAQ technology coupled with 2D-nanoLC-nano-ESI-MS/MS and with a statistical model to uncover proteins that are significantly and reliably changed in the tears of dry eye patients in an effort to reveal potential biomarker candidates.

ESI

dry eye


Input: Taken together, we suggest that antagonism of the MCHR1 receptor may provide a novel approach for the treatment of affective disorders, including depression, with a potentially increased efficacy in women.

depression

depression


Input: Nominally significant single SNP and/or haplotype-based association results were detected in 15 genes, of which, MYO1D, ACCN1 and LASP1 stand out as genes with autism risk alleles requiring further study, with potential GRRs in the range of 1. 34-2. 29.

autism

autism


Input: In the xenograft model, tumor volume and weight were significantly suppressed in the co-treatment group, compared to the control, and the expressions of P-glycoprotein, Bcl-2 and cyclin B1 were reduced.

weight


Input: The XRCC6 SNP rs2284082 (NHEJ), also in LD with SREBF2, showed an interaction with smoking (smoking status interaction pgene = 0. 001, ppathway = 0. 008, poverall = 0. 034).

smoking


Input: EC is the most frequent extra-colonic cancer in patients with hereditary non-polyposis colon cancer syndrome (HNPCC), characterized by germline mutations in the mismatch repair (MMR) genes and by microsatellite instability (MSI) in component tumors.

MMR

microsatellite instability


Input: DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis.

psychosis

psychosis


Input: Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS.

MELAS

MELAS


Input: Both mRNA and protein expression levels of CK7 appear significantly higher in chromophobe RCC compared to oncocytoma (p & lt; 0. 001).

oncocytoma

oncocytoma


Input: To better understand the functional interaction between BRCA1 and MSH2, we studied the effect of the deletion of MSH2 gene on BRCA1-induced genome instability in yeast.

genome instability


Input: These findings expand the phenotypic spectrum of SMA-PME caused by novel mutations in ASAH1 and highlight the clinical utility of WES for rare, intractable forms of epilepsy.

SMA-PME

SMA-PME


Input: We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t (6; 12) (p21; q24. 3) translocation.

translocation


Input: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11 {beta}-hydroxylase deficiency.

11 {beta}-hydroxylase deficiency

11 {beta}-hydroxylase deficiency


Input: In palladium sensitive patients, there were significant increases of DRB4 (R. R. = 15. 48, p & lt; 0. 05), DR4 (R. R. = 13. 27, p & lt; 0. 005), DRB1 * 0405 (R. R. = 4. 43, p & lt; 0. 05), and DQB1 * 0401 (R. R.

sensitive

sensitive


Input: In conclusion, urinary cystatin C, β2-microglobulin, clusterin, GST-α, GST-μ, KIM-1, and NGAL could be useful biomarkers of renal damage in anti-GBM glomerulonephritis rats.

NGAL

glomerulonephritis


Input: Therefore, serum PRL may have a potential role as a biological marker of drug severity and treatment outcome in cocaine dependence.

PRL

cocaine dependence

PRL

cocaine dependence


Input: IL-17A and IL-17F are new pro-inflammatory cytokines implicated in neutrophilic inflammation and thus, involved in the pathogenesis of asthma.

inflammation


Input: Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p. R403W and pA797T in β-myosin heavy chain gene (MYH7) and p. R92W in the cardiac troponin T gene (TNNT2)) segregate.

MYBPH

hypertrophy


Input: In vitro, PIK3CA expression positively correlated with the expression of VEGF in ovarian cancer cells, whereas the phosphatidylinositol 3'-kinase inhibitor Ly294002 reduced both the constitutive and inducible expression of hypoxia-inducible factor-1alpha at the mRNA and protein levels and abrogated VEGF up-regulation by glucose starvation.

VEGF

starvation


Input: Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356.

bipolar affective disorder

bipolar affective disorder


Input: Physical association of HDAC1 and HDAC2 with p63 mediates transcriptional repression and tumor maintenance in squamous cell carcinoma.

squamous cell carcinoma

squamous cell carcinoma


Input: Intersectin enhances huntingtin aggregation and neurodegeneration through activation of c-Jun-NH2-terminal kinase.

c-Jun

neurodegeneration


Input: Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1 (I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.

Osteogenesis imperfecta type IV

Osteogenesis imperfecta type IV


Input: Three apoptosis-related genes (NOD2, DUSP1, and ADM) and 8 genes overexpressed in AD skin lesions (CCDC109B, CCL5, CCL8, IFI35, LYN, RAB31, IFITM1, and IFITM2) were induced by IFN-γ in primary keratinocytes.

skin lesions


Input: The human glioma cell lines U87 MG and U373 MG were transduced with Ad-p16, and cell viability was assessed by trypan blue staining.

glioma


Input: Moreover, tumors were analyzed for microsatellite instability and expression of MMR proteins, as well as for somatic rearrangements in MLH1 and MSH2 by MLPA.

MMR

microsatellite instability


Input: The data are consistent with the scaffolding of monoaminergic signaling modules by PrP (C), and may help understand the pathogenesis of clinical depression and neurodegenerative disorders.

PrP (C)

clinical depression

PrP (C)

clinical depression


Input: Case 3 had a plasmacytoma that showed monoclonal light chain restriction on IHC and an oligoclonal heavy chain rearrangement by PCR.

heavy chain

plasmacytoma


Input: An atypical carcinoid tumor of the lung with mutations in the p53 gene and the retinoblastoma gene.

p53 gene

atypical carcinoid tumor


Input: In melanoma xenograft models, CRM1 inhibition reduces tumor growth independent of BRAF or NRAS status and induces complete regression of BRAF V600E tumors when combined with BRAF inhibition.

regression


Input: FISH studies performed with P1-9, P1-12, and a set of overlapping 1F10 cosmid clones mapping telomeric to the NF1 locus identified large deletions in two new neurofibromatosis type 1 patients who, like previously characterized deletion patients, had mildly dysmorphic facial features and large numbers of cutaneous neurofibromas.

FISH

neurofibromatosis type 1


Input: Transthyretin (TTR) is a transport protein for thyroid hormones and vitamin A and might have an important role in the nervous system.

TTR

nervous system


Input: Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder characterized by malformations of the ear associated with hearing impairment, branchial fistulae or cysts, and renal malformations.

BOR

hearing impairment


Input: This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM.

PCFT

HFM

PCFT

HFM


Input: This study is the first to report a nationwide AGS survey, which identified more patients with sporadic AGS carrying de novo dominant-type TREX1 mutations than expected.

sporadic


Input: Deficiencies of GPI-anchored complement regulatory proteins, such as decay accelerating factor (DAF) and CD59, render red cells very sensitive to complement and result in complement-mediated hemolysis and hemoglobinuria.

GPI

hemolysis


Input: This previously unidentified, recurrent mutation in U2AF1 implicates altered pre-mRNA splicing as a potential mechanism for MDS pathogenesis.

MDS

MDS


Input: Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability.

depression

depression


Input: In the ischemic-reperfused hearts, pressure overload did the following: (1) reduced interleukin-10 but increased interleukin-17 (cardiomyocytes), without affecting interleukin-23; (2) increased expressions of γH2AX and GADD153; (3) decreased 5, 5', 6, 6'-tetrachloro-1, 1', 3, 3'-tetraethylbenzimidazolylcarbocyanine iodide (JC-1) aggregates but increased JC-1 monomers (suggestive of reduced mitochondrial membrane potential, ψ (m)); and (4) increased annexin V immunostaining as well as apoptotic and necrotic cell death.

annexin V

necrotic cell death


Input: The p53 mutation, therefore, seems to be related to tumour progression of small-intestinal cancer; however, no relationship was found between the PTEN/MMAC1 gene and the small-intestinal cancer.

intestinal cancer


Input: To test whether the copy number variations (CNVs) of CD4 + T cell transcription factor genes including T-bet, GATA binding protein 3 (GATA)-3, related orphan receptor C (RORC) and forkhead box protein 3 (FOXP3) are associated with acute anterior uveitis either in the presence or absence of ankylosing spondylitis (AAU + AS +; AAU + AS-).

acute anterior uveitis


Input: Since normal lung epithelium expresses bcl-2, a sequence of tumour progression involving loss of bcl-2, then activation of c-erbB-2 or increase in tumour vascularization is proposed.

vascularization


Input: The results lead to the suggestion that treatment with tricyclic antidepressants leads to changes in the EAAC1 mRNA expression in rat brain suggesting involvement of the glutamate system in the tricyclic treatment of depression.

depression

depression


Input: Stable transfection of the Hsulf-1 negative Panc-1 pancreatic cancer cell line with a full length Hsulf-1 expression vector resulted in increased sulfatase activity and decreased cell-surface heparan-sulfate proteoglycan (HSPG) sulfation.

HSPG

pancreatic cancer


Input: Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF.

chromosomal instability


Input: Men heterozygous for the R451Q mutation (n = 7) had 27% higher CETP activity than age-, body mass index-, smoking-and alcohol consumption-matched controls with normal genotype (n = 21; P = 0. 003).

CETP

alcohol consumption


Input: Here we have shown that, in tumor samples with BCL2 translocation, those with high levels of BACH2 had significantly lower BCL2 transcript abundance compared to those with low levels of BACH2.

translocation


Input: The present work sought to ascertain the role of PVRL1 in the sporadic forms of orofacial clefting in multiple populations.

sporadic


Input: Patient A had enlarged pituitary gland (pituitary height: 9-10 mm), demonstrated by serial MRI carried out from age 5 to 8. 5 yr, small pituitary gland (4 mm) at age 10 yr and pituitary enlargement (11 mm) at age 19 yr.

MRI

height


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.

drinking


Input: We previously showed that sirtuin1 (SIRT1), an antiaging protein, is reduced in lungs of CS-exposed mice and patients with COPD and that SIRT1 attenuates CS-induced lung inflammation and injury.

lung inflammation

lung inflammation


Input: We aimed to examine the association of APOE ε genotype with MRI markers of cerebrovascular disease (CVD): white matter hyperintensities, brain infarcts, and cerebral microbleeds.

MRI

cerebrovascular disease


Input: We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.

KBG syndrome

KBG syndrome


Input: This study aimed to determine whether functionally active CX3CR1 genetic variants are associated with long-term nonprogressive infection of > 15 years in HIV-1-infected Spanish patients.

nonprogressive


Input: HSulf-1 (heparan sulfate 6-O-endosulfatase 1), a commonly downregulated gene in the majority of ovarian cancer cell lines, has been identified to play an important role in regulating tumorigenesis.

tumorigenesis


Input: We have retrospectively genotyped 8 single nucleotide polymorphisms (SNPs) in 6 candidate genes (MDM2, CDK4, CDC27, FPGS, IGFN1, and PRAMEF13) in 138 patients and 131 healthy control subjects to evaluate the effects of genetic factors on individual susceptibility to primary retroperitoneal liposarcoma in Chinese population.

retroperitoneal liposarcoma


Input: TERT translocation from cytoplasm to the nucleus might be a turning point in cancer development.

TERT

translocation


Input: Hybridization identified 11 hypoxia-induced genes: 1 involved with cell cycle control (CCNG2), 6 in stress response (IGFBP3, SLC2A3, GSTT2, FOS, DDIT3, AKR1C3), and 2 newly connected genes (Depp, AKAP4).

hypoxia


Input: We investigated the antileukemia effects and molecular mechanisms of apoptosis induction by simultaneous blockade of PI3K and mutant FLT3 in AML cells grown under hypoxia in co-cultures with bone marrow stromal cells.

hypoxia


Input: There was no significant difference in 8-oxoG/OGG1 expressions between HCC and non-neoplastic tissues.

HCC

non-neoplastic


Input: The antioxidant N-acetyl-l-cysteine (NAC) had been shown to inhibit replication of seasonal human influenza A viruses.

NAC

human influenza


Input: The gender-specific effect of the COMT genotype suggests that the COMT Val/Met genotype may influence a personality trait, openness to experience, in males with panic disorder.

COMT

personality trait


Input: To examine the association between 2 mitochondrial manganese superoxide dismutase (MnSOD) genetic polymorphisms (Ala-9Val and Ala-16Val) and prostate cancer susceptibility.

manganese superoxide dismutase

prostate cancer susceptibility


Input: The changes in TLR4, TLR2, CCL5 and TNFRSF1A mRNA expression were associated with an increase in insulin sensitivity index independently of the change in waist circumference (p < 0. 05).

waist circumference


Input: We report two patients with a myeloproliferative disorder (Philadelphia chromosome-negative chronic myeloid leukemia) and t (5; 12) (q31; p12).

myeloproliferative disorder


Input: The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.

vimentin

ACS

vimentin

ACS


Input: To better understand the pathogenesis of the retinopathy component, the authors studied expression of the main regulatory protein of the beta-oxidation pathway, carnitine palmitoyltransferase (CPT) 1, and acyl-CoA dehydrogenase (ACAD) 9 in retinal sections and cultured cells.

CPT

retinopathy


Input: We also observed the development of skin keratoacanthoma lesions, probably because of aberrant ALK expression in keratinocytes.

ALK

keratoacanthoma


Input: This report expands the knowledge of genotype-phenotype data on the p63 gene and suggests there may be a considerable overlap between the EEC syndrome and the ADULT syndrome.

ADULT syndrome

ADULT syndrome


Input: These findings demonstrate the utility of exome sequencing in disease gene identification despite the combined complexities of locus heterogeneity, mixed models of transmission and frequent de novo mutation, and establish a fundamental role for KLHL3 and CUL3 in blood pressure, K (+) and pH homeostasis.

blood pressure


Input: In a xenograft animal model, mice treated with CRAd and ad-TRAIL showed complete regression of established tumors, whereas mice treated with CRAd or ad-TRAIL alone did not.

CRAd

regression


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: DNA was extracted from frozen gastrinomas from 51 patients and screened by dideoxyfinger-printing (ddF) for abnormalities in the 9 coding exons and adjacent splice junctions of the MEN1 gene.

MEN1 gene

abnormalities


Input: The observed 1. 8-fold elevated risk in premenopausal women with invasive breast cancer is highly suggestive of a possible interaction between UGT genotype and hormones.

UGT

invasive breast cancer


Input: Using homology to the rat mta1 gene, we cloned the human MTA1 gene and found it to be over-expressed in a variety of human cell lines (breast, ovarian, lung, gastric and colorectal cancer but not melanoma or sarcoma) and cancerous tissues (breast, esophageal, colorectal, gastric and pancreatic cancer).

MTA1 gene

esophageal


Input: HSulf-1 inhibits angiogenesis and tumorigenesis in vivo.

tumorigenesis


Input: In multivariable Cox proportional hazard regression models, SNPs of EXO1, MSH2, MSH3, PMS2L3, and TP73 in patients with localized disease, MSH2, MSH3, MSH6, and TP73 in patients with locally advanced or metastatic disease, and EXO1, MGMT, MSH2, MSH3, MSH6, PMS2L3, and TP73 in all patients remained significant predictors for OS (p ≤. 0015) after adjusting for all clinical predictors and all SNPs with p ≤. 0015 in single-locus analysis.

regression


Input: EGFR mutations were associated with adenocarcinoma (p = 0. 002), female gender (p = 0. 02), never-smoking (p < 0. 0001), Asian ethnicity (p = 0. 005), air bronchograms (p = 0. 004), and multiple wedge resections (p = 0. 03).

EGFR

smoking


Input: Our results show that the decreased radixin functions affect the interaction between radixin and ABC transporters in inflammation.

radixin

inflammation


Input: delivery into subcutaneous mouse models of breast cancer, the nanodrug showed a preferential tumor uptake, which could be visualized by MRI and near-IR optical imaging.

MRI

breast cancer


Input: We demonstrated that EGFR mutations were linked to female sex, absence of smoking, late age at diagnosis, and adenocarcinoma (ADC) with bronchioloalveolar (BAC) features.

EGFR

smoking


Input: Reduced neutrophil adhesion to infected RPE cells correlated with HCMV-induced up-regulation of constitutive Fas ligand (FasL) expression.

Fas ligand

adhesion


Input: Furthermore, we found that GluK4 is a key mediator of excitotoxic neurodegeneration: GluK4 knockout mice showed robust neuroprotection in the CA3 region of the hippocampus following intrahippocampal injection of kainate and widespread neuroprotection throughout the hippocampus following hypoxia-ischemia.

neurodegeneration


Input: The nuclear factor erythroid 2-related factor 2 and antioxidant-response element (Nrf2-ARE) pathway is a key regulator for modulating inflammation and oxidative damage, which are involved in the pathogenesis of early brain injury (EBI) after subarachnoid hemorrhage (SAH).

SAH

inflammation


Input: These include analysis of microsatellite instability (MSI), immunohistochemistry of mismatch repair (MMR) proteins, segregation data, frequency of the variants in control samples, presence of other pathogenic mutations, and functional and mRNA analyses.

MMR

microsatellite instability


Input: However, sXBP1 was induced in SF by TLR4 and TLR2 stimulation, resulting in sXBP1-dependent interleukin-6 and tumour necrosis factor (TNF) production.

necrosis


Input: These observations imply that HCN4 abnormalities may be involved in the pathogenesis of various arrhythmias, similar to the SCN5A mutations.

abnormalities


Input: Studies have indicated that the t (14; 18) (q32; q21)/IGH-MALT1 translocation is present in extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT lymphoma).

translocation


Input: We used expression-matched transgenic mouse lines to compare the effects of different human amyloid protein precursors (hAPP) and their products on plaque formation and SYN-IR presynaptic terminals.

SYN

plaque


Input: We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls.

depression


Input: We have previously described the involvement of the transcription factors, nuclear factor I-C2 (NFI-C2) and Forkhead box F1 (FoxF1), in the regulation of EMT and invasion during breast tumor progression.

EMT

tumor progression


Input: Hepcidin was positively associated with IL-6 and IL-10 levels and with parasitaemia in subjects with mild malaria and with IFN-γ in subjects with severe malaria.

mild


Input: Moreover, the up-regulation of Axl was induced by TGF-β1, further activated phosphatidylinositol 3-kinase (PI3K)/Akt and PAK1 translocation, and resulted in greater cell motility, invasion, and chemoresistance in vitro and in vivo.

translocation


Input: Such neurodegeneration may be precipitated by (RCAN1-1L-mediated) prolonged calcineurin inhibition and GSK-3β induction/activation, both of which promote tau hyperphosphorylation, and/or by (RCAN1-1L-mediated) effects on the mitochondrial ANT, diminished ATP/ADP ratio, opening of the mtPTP, and mitochondrial autophagy.

neurodegeneration


Input: Here we describe 33 patients with PYCR1-related ARCL from 27 families with initial diagnoses varying between wrinkly skin syndrome, gerodermia osteodysplastica, De Barsy syndrome or more severe progeria syndromes.

gerodermia osteodysplastica

gerodermia osteodysplastica


Input: equisimilis induced arthritis in the ankle joints of CD46 Tg mice as a consequence of the prolonged inflammation associated with focal bone loss.

inflammation


Input: In addition, ALC is known to produce a strong antinociceptive effect when given after neuropathic pain has been established.

ALC

neuropathic pain


Input: Induction of transcriptional activity of HIF-1alpha by hypoxia or irradiation requires an intact TGF-beta signalling cascade.

TGF-beta

hypoxia


Input: Intramuscular injection of HGF plasmid once on day 10 after surgery produced significant augmentation of collateral vessel development on day 30 in the ischemia model, as assessed by angiography (P < 0. 01).

HGF

ischemia


Input: Conversely, LCA inhibited EphA2 phosphorylation induced by ephrinA1-Fc in PC3 and HT29 human prostate and colon adenocarcinoma cell lines (IC (50) = 48 and 66 µM, respectively) without affecting cell viability or other receptor tyrosine-kinase (EGFR, VEGFR, IGFR1β, IRKβ) activity.

colon adenocarcinoma


Input: We investigated 56 abstinent patients hypothesizing that four subgroups of abstinent alcoholics with regard to family history (FHP: family history positive, FHN: family history negative) and antisocial behavior (ASP: antisocial traits present, ASN: antisocial traits not present) would exhibit differences in P300, particularly when recorded by frontal electrodes.

antisocial


Input: The erg2 and erg3 genes are expressed exclusively in the nervous system, in marked contrast to erg1, which is expressed in both neural and non-neural tissues.

nervous system


Input: By contrast, one GJB2-unrelated case showed a semantic disorder, another demonstrated a visual cognitive disorder with dyslexia, and another had attention deficit-hyperactivity disorder.

dyslexia


Input: Melatonin (MLT) is a pleiotropic neurohormone controlling many physiological processes and whose dysfunction may contribute to several different diseases, such as neurodegenerative diseases, circadian and mood disorders, insomnia, type 2 diabetes and pain.

MLT

mood disorders


Input: To investigate the potential role of the notch ligand delta-like ligand 4 (DLL4) in glioma angiogenesis, we examined whether its expression correlates with that of vascular endothelial growth factor (VEGF) and hypoxia-induced factor-1α (HIF-1α).

VEGF

hypoxia


Input: Eight of the tumours contained the translocation t (14; 18) at the major breakpoint region (MBR) of BCL-2.

translocation


Input: This study aims to explore the associations of polymorphisms in inflammation-related genes (IL10, IL10RA, IL6R, TNFRSF1A, TNFRSF1B, LTA and IL4) and their interactions with the risk of colorectal cancer among Chinese population.

inflammation


Input: Of the 70 cases of gastric adenocarcinoma, the expressions of NeuroD, chromogranin A, and synaptophysin were detected in 17 (24. 3%), four (5. 7%), and 24 cases (34. 3%), respectively, with preferential expressions in a non-solid type of poorly differentiated adenocarcinoma.

NeuroD

gastric adenocarcinoma


Input: Results indicate that the GPIbalpha mutation, Gly233Val, promotes and stabilizes platelet adhesion to VWF at shear rates that do not support binding between the native receptor-ligand pair due to enhanced formation and increased longevity of the mutant tether bond (k0 off values for mutant versus native complex of 0. 67 +/-0. 11 s-1 and 3. 45 +/-0. 37 s-1, respectively).

GPIbalpha

adhesion


Input: These novel findings emphasize the molecular heterogeneity of this group of genodermatoses, and attest to the importance of BPAG2 in maintaining adhesion between the epidermis and the dermis.

adhesion


Input: Thus, Gas6 enhances platelet degranulation and aggregation responses through its known receptors, promoting platelet activation and mediating thrombus formation such that its inhibition prevents thrombosis without increasing bleeding.

thrombosis

thrombosis


Input: To examine the role of CpG methylation and histone deacetylation in the silencing of UCHL1, human gallbladder carcinoma cell lines and pancreatic carcinoma cell lines were treated with 2 or 5 μmol/L 5-AZA-dC for 72 h or 100 nmol/L Trichostatin A for 24 h. After the treatment, UCHL1 expression was analyzed by real-time reverse transcription-polymerase chain reaction.

pancreatic carcinoma


Input: The present study demonstrated that manifestation and disappearance of depression-like behavior are in parallel with increase and decrease in cortical neuronal excitability in mice and suggested that regulation of BK channels by Homer1a is involved in this parallelism.

depression

depression


Input: Under hypoxic conditions, RPE cells undergo EMT.

RPE

hypoxic


Input: We report triple heterozygosity in the integrin alpha (IIb) subunit in a 5-year-old Canadian girl with Glanzmann' s thrombasthenia.

integrin alpha (IIb

Glanzmann' s thrombasthenia

integrin alpha (IIb

Glanzmann' s thrombasthenia


Input: Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.

Toll-like receptor 3

chronic mucocutaneous candidiasis


Input: The influence of polymorphism in the glutathione S-transferase, GSTM3 gene on susceptibility to cutaneous basal cell carcinoma (BCC) has been investigated.

GSTM3 gene

basal cell carcinoma


Input: DPP-4 inhibition increases plasma GLP-1 levels, particularly in uremia, and reduces expression of cardiac mRNA levels of matrix proteins and B-type natriuretic peptides (BNP).

DPP

uremia


Input: Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene.

IVD

IVA

IVD

IVA


Input: Intriguingly, various mutations in the OPA3 gene lead to two similar diseases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic condition; type 3-methylglutaconic aciduria (MGA).

MGA

3-methylglutaconic aciduria


Input: This pattern was maintained in secondary GBM and further confirmed by immunohistochemistry, suggesting a role for ID4, SOX2 and SOX4 in early astrocytoma tumorigenesis.

tumorigenesis


Input: Genotypes were examined in relationship to HDL-C, CETP activity, CETP concentration, and three measures of subclinical cardiovascular disease (CVD): coronary artery calcium (CAC) measured by fast CT scanning, carotid intimal-medial thickness (IMT), and carotid artery plaque measured by ultrasonography.

CAC

plaque


Input: These data indicated that nucleocytoplasmic shuttling protein, CIZ, plays a pivotal role in the response of bone mass in unloading condition.

CIZ

bone mass


Input: Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition.

Fanconi Anemia

Fanconi Anemia


Input: The autophagic function of TRIM20 is affected by mutations associated with familial Mediterranean fever.

familial Mediterranean fever

familial Mediterranean fever


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL.

B-CLL

B-CLL


Input: Léri-Weill dyschondrosteosis (LWD, MIM 127300), is a dominantly inherited skeletal dysplasia with disproportionate short stature, mesomelic limb shortening, and the characteristic Madelung deformity.

MIM

dyschondrosteosis


Input: Three hundred fifty-four patients (38. 5%) had deficiency of antithrombin (AT, n = 16), protein C (PC, n = 26), protein S (PS, n = 22), factor V Leiden (FVL, n = 168), prothrombin G20210A (PT-GA, n = 87), or multiple abnormalities (n = 35), and 566 had none of the studied thrombophilic abnormalities.]

protein C

multiple abnormalities


Input: CH25H maps to a region within 10q23 that has been previously linked to sporadic AD.

sporadic


Input: This is a case-control association study of sporadic AD, VaD, and single-nucleotide polymorphisms in ESR1 (rs2234693 and rs9340799), the TA dinucleotide repeat in the ESR1 promoter, and the rs4986938 single-nucleotide polymorphism in ESR2.

sporadic


Input: Analysis with isogenic pairs of cell lines, differing in p53 status, revealed that Plk1 depletion preferentially induced mitotic arrest, aneuploidy, and reduced cell survival in the p53-defective cell lines.

aneuploidy


Input: Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by ectopic calcification of the elastic fibers in dermal, ocular and vascular tissues.

ABCC6 gene

ectopic calcification


Input: Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

retinitis pigmentosa

retinitis pigmentosa


Input: In summary, the mice in which transactive response DNA-binding protein 43 was knocked-out specifically in postnatal motor neurons exhibited an age-dependent progressive motor dysfunction accompanied by neuropathological alterations, which are common to sporadic amyotrophic lateral sclerosis.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Transfection of cell lines with ZNHIT3 expression vectors showed that the PEHO syndrome mutant protein is unstable.

PEHO syndrome

PEHO syndrome


Input: Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress.

CHAT

fever


Input: Unexpectedly, inhibition of ROS by either N-acetyl-L-cysteine (NAC), a peroxide inhibitor, or Tempol, a superoxide inhibitor, increased the annexin V-/propidium iodide (PI) + early necrotic population in TRAIL-treated cells.

annexin V

necrotic


Input: We sought to determine whether antisense oligonucleotides directed at the bcl-xl gene product would augment response to a conventional chemotherapeutic agent in human mesothelioma cell lines.

bcl-xl

mesothelioma


Input: Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A


Input: The Mad1-Mad2 balancing act--a damaged spindle checkpoint in chromosome instability and cancer.

chromosome instability


Input: Sajabal (EAPP) is effective at preventing inflammation-associated colon cancer, and if so, to identify the signaling pathways involved.

EAPP

colon cancer


Input: Small-fiber neuropathy Nav1. 8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

Nav1. 8

neuropathy


Input: One patient who was a BRCA1 carrier had high-grade ductal carcinoma in situ (DCIS) that was screen detected by MRI but that was missed on mammography.

MRI

ductal carcinoma in situ


Input: Here we provide evidence that CD40L + IL-4, IL-8 or IL-6 enhance adhesion to stromal cells, with IL-6 showing a selective effect on ZAP-70 positive cells.

adhesion


Input: These findings suggest that COX-2-derived mediators serve an important hepato-protective function and that COX inhibition may contribute to the risk of drug-induced liver injury, possibly through both nonimmunological and immunological pathways.

drug-induced liver injury

drug-induced liver injury


Input: Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia.

Diamond-Blackfan anaemia

Diamond-Blackfan anaemia


Input: The characteristic DFSP-associated translocation, t (17; 22) (q22; q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients.

translocation


Input: Considerable efforts have been made to amplify angiogenesis under conditions of hypoxia and ischemia by vascular endothelial growth factor (VEGF) delivery, so far with limited success.

VEGF

hypoxia


Input: Indirectly, these data support treating symptomatic patients with mild/moderate GD with low-dose ERT and re-evaluating the use of ERT in asymptomatic patients.

ERT

mild


Input: IL-9 was not detected in airways of healthy or mild asthmatic individuals.

mild


Input: In this study, we tested the leukocyte mRNA expression levels of genes belonging to glucocorticoid receptor (GR) function (FKBP-4, FKBP-5, and GR), inflammation (interleukin (IL)-1 & #945;, IL-1 & #946;, IL-4, IL-6, IL-7, IL-8, IL-10, macrophage inhibiting factor (MIF), and tumor necrosis factor (TNF)-& #945;), and neuroplasticity (brain-derived neurotrophic factor (BDNF), p11 and VGF), in healthy controls (n = 34) and depressed patients (n = 74), before and after 8 weeks of treatment with escitalopram or nortriptyline, as part of the Genome-based Therapeutic Drugs for Depression study.

VGF

Depression

VGF

Depression


Input: A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder.

major depressive disorder

major depressive disorder


Input: Among 331 candidate HCC markers, the three AKT kinase family members (AKT1-AKT3) were selected for clinical validation by immunohistochemistry analysis using 130 HCC specimens and matched adjacent non-neoplastic liver tissues.

HCC

non-neoplastic


Input: Primary hypertrophic osteoarthropathy (PHO (MIM 167100)) is a rare genetic disease characterized by pachyderma, periostosis and digital clubbing.

MIM

periostosis


Input: A missense mutation in the Na (+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.

congenital glucose-galactose malabsorption

congenital glucose-galactose malabsorption


Input: In some HPRT-deficient patients the enzyme defect appeared to be " partial " and the neurologic symptoms mild to severe (Kelley-Seegmiller syndrome).

HPRT

mild


Input: IL-17F-induced CCL20 may attract Th17 cells into the airway resulting in the recruitment of additional Th17 cells to enhance allergic airway inflammation.

inflammation


Input: In this study, we showed that progranulin-deficient mice displayed increased depression-and disinhibition-like behavior, as well as deficits in social recognition from a relatively young age.

progranulin

depression

progranulin

depression


Input: A specific antagonist to either the human PACAP-specific receptor or the vasoactive intestinal peptide receptor attenuated the suppressive effect of PACAP on IL-6 production in the adhesion of human multiple myeloma cells to BMSCs.

PACAP

adhesion


Input: The sarcomas displayed compensatory activation of PERK or phospho-eIF2α independent upregulation of ATF4 in order to maintain ISR signaling, indicating that this pathway is critical for tumorigenesis.

tumorigenesis


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

medulloblastoma

medulloblastoma


Input: The risk factor of gallbladder cancer: hyperplasia of mucous epithelium caused by gallstones associates with p16/CyclinD1/CDK4 pathway.

hyperplasia


Input: Following transient intraluminal middle cerebral artery (MCA) occlusions, VEGF overexpression significantly alleviated neurological deficits and infarct volume, and reduced disseminated neuronal injury and caspase-3 activity, confirming earlier observations that VEGF has neuroprotective properties.

VEGF

infarct


Input: Exogenous netrin-1 suppressed hypoxia-elicited inflammation in wild-type but not in A2BAR-deficient mice, and inflammatory hypoxia was enhanced in Ntn1 (+/-) mice relative to that in Ntn1 (+/+) mice.

hypoxia


Input: Our results suggest that digoxin downregulated hypoxia-induced overexpression of VEGF and NDRG1 at the transcriptional level probably through the inhibition of HIF-1α synthesis in A549 cells.

VEGF

hypoxia


Input: The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells.

autosomal dominant optic atrophy

autosomal dominant optic atrophy


Input: β-Arrestin 1 is known to be involved in the pathophysiology of major depressive disorder (MDD) and in the underlying mechanism of action of antidepressant therapies.

Arrestin 1

major depressive disorder


Input: To test the hypothesis that the increased glucocorticoids contribute to the diabetes and insulin resistance, we examined the effect of adrenalectomy on A-ZIP/F-1 mice.

ZIP

insulin resistance


Input: Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

SRCAP

floating-harbor syndrome

SRCAP

floating-harbor syndrome


Input: Mutation analysis also detected one known missense change (Arg25Cys) in NKX2. 5 gene in two (1. 1%) sporadic patients with TOF.

NKX2. 5

sporadic


Input: ANKK1 and DRD2 pharmacogenetics of disulfiram treatment for cocaine abuse.

cocaine abuse

cocaine abuse


Input: In this article, the incidence and prevalence of HCC in patients with HH and other liver diseases associated with iron overload are discussed as well as the possible mechanisms for the increased risk for hepatic carcinogenesis in these disorders.

HCC

liver diseases


Input: Thus, Dll3-Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders.

scoliosis

scoliosis


Input: This study was carried out to evaluate whether it is effective to use mean corpuscular hemoglobin (MCH) < 27. 0 pg as a screening test in the first step of screening for Hb QS carriers in southern China.

MCH

mean corpuscular hemoglobin


Input: UMP-CMPK2 mRNA expression was exclusively detected in chronic myelogenous leukemia K-562 and lymphoblastic leukemia MOLT-4 among eight studied cancer cell lines.

chronic myelogenous leukemia


Input: This study showed antiangiogenic and antitumoral effects of SCE in three mice glioma models (C6, HGD and GL26).

HGD

glioma


Input: Furthermore, IL-6-induced SOCS3 expression is inhibited by rapamycin, and ectopic expression of SOCS3 blocks the ability of rapamycin to enhance insulin sensitivity in the presence of IL-6.

insulin sensitivity


Input: The recent development of mouse cancer models harboring engineered mutations in Lkb1 have offered insights into how LKB1 may be functioning to restrain tumorigenesis and how its role as a master regulator of polarity and metabolism could contribute to its tumor suppressor function.

tumorigenesis


Input: Thirteen filiform SAs were evaluated for mutations of BRAF and KRAS genes, microsatellite instability (MSI), and promoter hypermethylation of hMLH1, MGMT, p16, MINT1, MINT2, MINT31 and the APC genes.

microsatellite instability


Input: Finally, subcutaneous mouse model for HCC confirmed effectiveness of inhibition of aurora kinase/RalA pathway in reducing the tumorigenesis of HCC cells in vivo.

RalA

tumorigenesis


Input: A study of the functional significance of epidermal growth factor in major depressive disorder.

epidermal growth factor

major depressive disorder

epidermal growth factor

major depressive disorder


Input: Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.

XK gene

abnormalities


Input: This is the first biologic insight into the function of this new putative cancer susceptibility gene, providing clues of how perturbation of ELAC2 might promote tumorigenesis through irregular cell division.

tumorigenesis


Input: To investigate the effect of resveratrol (RSV) on angiotensin II (Ang II) induced cardiomyocytes hypertrophy and FoxO1/MnSOD signaling pathway.

angiotensin II

hypertrophy

angiotensin II

hypertrophy


Input: FISH analysis of 5 cases revealed an intact EWS gene locus, supporting absence of the clear cell sarcoma 12; 22 translocation.

FISH

clear cell sarcoma


Input: To investigate the role of activated Src in drug resistance, we evaluated the effect of v-src on the resistance to various anti-cancer drugs using v-src-transfected HAG-1 human gallbladder adenocarcinoma cells.

cancer


Input: The TNF ligand-receptor system stimulates inflammation by activation of gene transcription through the IkappaB kinase (IKK)-NF-kappaB and c-Jun NH (2)-terminal kinase (JNK)-AP-1 signaling cascades.

inflammation


Input: Transactive response DNA-binding protein (TARDBP/TDP-43), a heterogeneous nuclear ribonucleoprotein (hnRNP) with diverse activities, is a common denominator in several neurodegenerative disorders, including amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

DNA-binding protein

amyotrophic lateral sclerosis


Input: The GSDMB/ORMDL3 gene block, which includes rs7216389, rs4065275, rs4794820, and rs11650680, may be associated with asthma susceptibility in Korean children because it promotes eosinophilic inflammation, which induces bronchial hyperresponsiveness.

GSDMB

asthma susceptibility


Input: This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes.

MRI

febrile illness


Input: While SAG is a bona fide anti-caries factor, DMBT1 was proposed as a candidate tumor-suppressor for brain, digestive tract, and lung cancer.

SAG

caries


Input: To determine whether this gene, which is located close to the 12q13 breakpoint associated with myxoid liposarcoma, is rearranged in these tumors, we have performed Southern blot analysis of DNA from myxoid liposarcomas carrying the translocation t (12; 16) (q13; p11).

myxoid liposarcoma


Input: To run a phase II clinical trial of cytarabine in men with docetaxel-refractory, castration-resistant prostate cancer (CRPC), based on evidence that cytarabine might be effective in men with abnormalities of ERG oncogenes.

ERG

abnormalities


Input: To ensure faithful chromosome segregation, cells use the spindle assembly checkpoint (SAC), which can be activated in aneuploid cancer cells.

SAC

aneuploid


Input: There were no differences in gene expression of EP300, KAT2B, CREBBP, or HDACs 1, 2 and 3 in blood monocytes from subjects with asthma or inflammatory phenotypes of asthma.

asthma


Input: In carcinoembryonic antigen (CEA)-producing gastric cancer cells, the level of cell death observed when MDEG-G430F was used with a CEA promoter was similar to that observed when using a potent nonspecific promoter such as the cytomegalovirus promoter.

CEA

cytomegalovirus


Input: [Hypertrophic cardiomyopathy induced by ACTH].

ACTH

Hypertrophic cardiomyopathy

ACTH

Hypertrophic cardiomyopathy


Input: A case history is presented of a BRCA2 carrier who had a postmastectomy chest wall angiosarcoma but had neither therapeutic radiation nor clinically evident lymphedema.

lymphedema


Input: STK36 screening can now be included for this rare and difficult to diagnose PCD subgroup.

PCD

PCD


Input: Here, we studied the role of the pluripotency and self-renewal stem cell genes NANOG, OCT4 and SOX2 in this polyploidy-dependent survival mechanism.

polyploidy


Input: The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5. 0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0. 3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0. 1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls.

LHON

LHON


Input: The E6AP ubiquitin ligase catalyzes the high-risk human papillomaviruses' E6-mediated ubiquitylation of p53, contributing to the neoplastic progression of cells infected by these viruses.

neoplastic progression


Input: To examine the potential functional significance of the P20L-Hsp20 human variant, adult rat cardiomyocytes were infected with Ad. GFP (where Ad is adenovirus and GFP is green fluorescent protein), Ad. WT-Hsp20 (where WT is wild-type), and Ad. P20L-Hsp20 and subjected to simulated ischemia/reperfusion injury.

ischemia


Input: GAL cells display the phenotype and genotype of a B-cell lineage (positive for CD20, CD79a and clonal rearrangement of Ig heavy chain), carry the c-MYC rearrangement by t (8; 22) (q24; q11) translocation and are characterised by the expression of the germinal centre-associated antigens CD10, BCL6, CD38 and absent to low BCL2 expression.

GAL

translocation


Input: These results suggest that cPLA2 plays an important role in supplying arachidonic acid to the COX-2 driven inflammatory pathway in ALS associated with SOD1 mutations.

ALS

ALS


Input: Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene.

Dominant optic atrophy

Dominant optic atrophy


Input: Our data suggest that the CD133 (+) cell subpopulation evokes most of the lysophospholipid response within brain tumors through a combined regulation of S1P/LPA cell surface receptors signaling and by MT1-MMP.

brain tumors


Input: Notably, FVIII-RH exhibited a twofold increase in biological activity compared with FVIII-BDD, likely due to its slower dissociation of the A2-domain upon thrombin activation.

FVIII

dissociation


Input: Intriguingly, EphA1 over-expression was more prevalent in stage II compared to stage III CRCs (P = 0. 02).

CRC

CRC


Input: It was found by TUNEL assay that TSC-22-expressing TYS tumors were induced to undergo apoptosis by 5-FU treatment.

TYS

tumors


Input: Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles.

PEPD

prolidase deficiency

PEPD

prolidase deficiency


Input: Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

CDG-Ia

CDG-Ia


Input: In this study, we evaluated the therapeutic approach of targeting the cyclin-CDK-Retinoblastoma (Rb) pathway in a genetically engineered PDGF-B-driven brainstem glioma (BSG) mouse model.

BSG

brainstem glioma


Input: A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.

keratin 17

pachyonychia congenita type 2

keratin 17

pachyonychia congenita type 2


Input: Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement.

DSN

DSN


Input: Heterogeneous chromosomal aberrations generate 3' truncations of the NFKB2/lyt-10 gene in lymphoid malignancies.

chromosomal aberrations


Input: IL-10, by inducing the receptor for LIF (LIFR), produced a functional autocrine OM loop in XG-1 and XG-2 cells and in primary myeloma cells from 2 patients.

LIFR

myeloma


Input: Recently, molecular mechanisms underlying possible tumour suppressor genes (MEN1, CDC73/HRPT2, CDKIs, APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, WT1, CaSR, GNA11, AP2S1) and proto-oncogenes (CCND1/PRAD1, RET, ZFX, CTNNB1, EZH2) have been uncovered in the pathogenesis of hyperparathyroidism.

hyperparathyroidism


Input: Recombinant FVIIa has successfully prevented bleeding during or after surgery in patients with FXI inhibitors.

FXI

bleeding


Input: Key genes that may play a role in keloid formation and growth involve: suppressor gene p53., cyclin-depend-ent kinase inhibitor CDKN1A (p21) and BCL2 family genes: antiapoptotic BCL-2 and proapoptotic BAX.

keloid formation


Input: The presence of autonomic neuropathy in subjects with parental type 2 diabetes was associated with higher UAER, fasting insulin level, and 24-h AMBP and a reduced diurnal blood pressure variation.

AMBP

autonomic neuropathy


Input: The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26).

sporadic


Input: In addition to accumulation of α-galactosidase A substrates, other mechanisms may be involved in FD pathophysiology, such as inflammation and oxidative stress.

α-galactosidase A

inflammation


Input: BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation.

inflammation


Input: As a result, we identified one gene set with a joint effect significantly associated with schizophrenia and gene expression profiling analysis suggested that they were mainly neuro-and immune-related genes, such as glutamatergic gene (GRM5), GABAergic genes (GABRB1, GABARAP) and genes located in the MHC region (HLA-C, TAP2, HIST1H1B).

GABARAP

schizophrenia

GABARAP

schizophrenia


Input: Additionally, the nuclear magnetic resonance relaxation properties of CVB4 2A (pro), particularly of residues G1 to S7, F64 to S67, and P107 to G111, reveal that the substrate region is exchanging in and out of a conformation in which it occupies the active site with association and dissociation rates in the range of 100 to 1, 000 s (-1).

dissociation


Input: Such a reduction in message suggests that the NQO2 gene may be involved in the development of clozapine-induced AGR.

AGR

AGR


Input: CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability.

chromosomal instability


Input: After appropriate affinity and format improvements, the best of our recombinant scFvs may form the basis for a sensitive p24 assay as a measure of viral load.

viral load


Input: Asc-1 protein and SNAT2 mRNA were decreased in schizophrenia in both regions.

schizophrenia

schizophrenia


Input: Taken together, we identified interesting novel candidate genes that likely contribute to glioma progression and provide first evidence for a role of epigenetic silencing of AMOG in malignant glioma cells.

AMOG

malignant glioma

AMOG

malignant glioma


Input: Increased TNFA * 2, but not TNFB * 1, allele frequency in Spanish atopic patients.

TNFA

atopic


Input: Rescue of glandular dysmorphogenesis in PTEN-deficient colorectal cancer epithelium by PPARγ-targeted therapy.

PPARγ

dysmorphogenesis


Input: BRCA1-and BRCA2-deficient cells display genomic instability due to impaired DNA repair and may subsequently be predisposed to malignant transformation.

genomic instability


Input: The locus typing of PLA1/PLA2 gene polymorphism was exclusively PLA1/PLA1 (TT) in healthy people, CHD patients and CHD patients with blood-stasis syndrome, while GPIIIa PLA1/PLA2 (TC) and PLA2/PLA2 (CC) were not found in all the selected objects.

GPIIIa

stasis syndrome


Input: Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT.

asymptomatic


Input: We applied this method to correlated SNPs in the cholinergic nicotinic receptor gene cluster CHRNA5-CHRNA3-CHRNB4, in a case-control study of cocaine dependence composed of 504 European-American and 583 African-American samples.

cocaine dependence

cocaine dependence


Input: ARHGAP21 is a RhoGAP for RhoA and RhoC with a role in proliferation and migration of prostate adenocarcinoma cells.

RhoC

prostate adenocarcinoma


Input: The GES is a validated, quantitative blood-based diagnostic test measuring peripheral blood cell expression levels of 23 genes to determine the likelihood of obstructive CAD (at least 1 vessel with ≥ 50% angiographic coronary artery stenosis).

GES

coronary artery stenosis


Input: LKB1 gene mutations appear to be frequent in male, smoking patients of Caucasian origin, in contrast to EGFR or HER2 mutations that are frequent in non-smoking, female patients of Asian origin.

EGFR

smoking


Input: Among them CBFA2T2, a member of the " ETO " family, is known because of its homology and association with the product of RUNX1-CBFA2T1 gene fusion generated by t (8; 21) translocation, one frequent cause of acute myeloid leukemia.

translocation


Input: Here, we present a new AML1 translocation found in a patient with acute myeloid leukemia M4 with t (8; 21) (q24; q22) at the time of relapse.

translocation


Input: The nephritis was evidenced by presence of proteinuria, histologic examination with light microscopy, infiltrating leukocyte assessed by immunofluorescence microscopy, and mesangial cell proliferation assessed by proliferation scoring and by immunohistochemical staining of proliferating cell nuclear antigen (PCNA).

PCNA

nephritis


Input: Hippocampal surface analysis showed the typical pattern of CA1 and subicular tissue atrophy in both ε4-carriers and non-carriers compared with controls (e4 carriers: p < 0. 0002; ε4 non-carriers: p < 0. 01, permutation test).

atrophy


Input: Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.

COH1 gene

myopia, progressive


Input: Then, the characters of glioma including proliferation, apoptosis, migration, and cell cycle were studied in U87 and U251 cell lines.

glioma


Input: In addition, after biopsy serum ALT values were monitored monthly for a mean follow-up period of 24. 8 months, after which patients were reevaluated for RIBA II and the presence of viremia.

RIBA

viremia


Input: Targeting homeostatic mechanisms of endoplasmic reticulum stress to increase susceptibility of cancer cells to fenretinide-induced apoptosis: the role of stress proteins ERdj5 and ERp57.

cancer

cancer


Input: Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi' s syndrome; this indicates a central role of mitochondria in proximal tubular function.

EHHADH

renal Fanconi' s syndrome

EHHADH

renal Fanconi' s syndrome


Input: We show that the duplication can be detected by interphase FISH, using a PLP probe in five patients and their four asymptomatic carrier mothers.

FISH

asymptomatic


Input: To evaluate roles of syndecan-1, bcl6 and p53 in diagnosis and prognostication of immunoproliferative small intestinal disease (IPSID) and to study profiles of kappa (kappa) and lambda (lambda) light chains and IgA heavy chain.

heavy chain

immunoproliferative small intestinal disease


Input: The FHIT/GAPDH mRNA level was less in squamous cell carcinoma (0. 144 +/-0. 246), a smoking-related cancer, than in adenocarcinoma (0. 72 +/-1. 321; P = 0. 0355).

GAPDH

smoking


Input: The Y1 receptor antagonist blocked the anxiolytic-like effect of neuropeptide Y, while the Y2 receptor antagonist was ineffective. We conclude that neuropeptide Y in the dorsocaudal lateral septum may act as an endogenous anxiolytic and antagonize corticotropin-releasing hormone (stress)-induced anxiety.

corticotropin-releasing hormone

anxiety

corticotropin-releasing hormone

anxiety


Input: The accompanying elevation in plasma parathyroid hormone (PTH) and reduction in bone mineral density caused by aldosterone (Aldo)-1% NaCl treatment (AldoST) led us to hypothesize that Ca2 + loading and altered redox state are due to secondary hyperparathyroidism (SHPT).

PTH

bone mineral density


Input: Furthermore, MML-treated cells displayed autophagic features, such as the formation of autophagic vacuoles, a primary morphological feature of autophagy, and the accumulation of microtubule-associated protein 1 light chain 3 (LC3) puncta, another typical maker of autophagy, as determined by FITC-conjugated immunostaining and monodansylcadaverine (MDC) staining, respectively.

autophagic vacuoles


Input: TFPI2, GPX3, GPX1, IGFBP6, IRF7 and DMRT1, showed promoter hypermethylation in one or more gastric cancer cell lines, but were unmethylated in normal gastric mucosa by bisulphite sequencing and methylation-specific PCR analysis.

gastric cancer


Input: We investigated mRNA expressions of full-length HE4 and splice variants in lung adenocarcinoma, and the clinical impact of these genes was evaluated.

lung adenocarcinoma


Input: There were no abnormalities in HIPK2, and analysis of two mutation hot-spots in BRAF revealed a V600E mutation in only one tumor without the duplication.

abnormalities


Input: Transient receptor potential melastatin subtype 8 (TRPM8) is a cold-sensing cation channel that can be activated by menthol, a compound with a naturally cold sensation in mint.

cold


Input: Stat5a nuclear expression was detected in ductal and lobular carcinomas and DCIS at a frequency of 48% (15/31), 33% (2/6), and 40% (2/5), respectively.

lobular carcinomas

lobular carcinomas


Input: The results showed that on day 28 and day 42 after fracture, bone mineral content (BMC), bone mineral density (BMD), and ultimate load to failure of the calluses were significantly increased in the PTH-treated group compared with controls (day 28, 61, 46, and 32%; day 42, 119, 74, and 55%, respectively).

PTH

bone mineral density


Input: Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated with progressive central vision loss, photophobia, and colour vision abnormalities.

Stargardt disease

abnormalities


Input: Maspin expression correlated negatively with liver metastasis of CRA (p < 0. 05), positively with tenascin expression (p < 0. 05), but not with tumor size, depth of invasion, local invasion via vessels, lymph node metastasis, differentiation, expression of Ki-67 and p53 or MVD (p > 0. 05).

CRA

lymph node metastasis


Input: Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks.

MIM

macular degeneration


Input: We sought to investigate the presence of the HHV 8 genome in skin lesions of LPP and early-stage sporadic, familial, and juvenile MF in patients in Israel.

LPP

skin lesions


Input: We report a young woman with a heteroplasmic m. 12276G > A mutation in tRNA (Leu (UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss.

UCN

progressive encephalopathy


Input: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

FKRP

muscle-eye-brain disease

FKRP

muscle-eye-brain disease


Input: Among cases, but not controls, average MLH1 expression tended to be higher with current alcohol consumption, regular aspirin use, and higher total intakes of calcium, vitamin D, and folate.

alcohol consumption


Input: We conclude that BCAT-2 deficiency in the mouse can cause a disease that mimics human MSUD.

MSUD

MSUD


Input: In vitro, TSP-1 N-terminal part significantly enhanced ECFC adhesion, whereas recombinant human TSP-1 had a negative effect on ECFC angiogenic potential.

adhesion


Input: Numerous missense mutations have been described previously in KCNA1 that cause EA1.


Input: Group comparisons demonstrated that (1) the probands with chronic schizophrenia, first episode schizophrenia, and schizophreniform disorder did not differ from one another on PVS; (2) these subjects combined had higher PVS ratings than the other two proband groups and normal subjects combined (who did not differ); and (3) none of the relative groups significantly differed from either one another or the normal subjects.

PVS

schizophreniform disorder


Input: TSC-22-expressing TYS cells formed tumors in nude mice, but tumors formed by TSC-22-expressing TYS cells were significantly smaller than tumors formed by control cells (p < 0. 001, one way ANOVA).

TYS

tumors


Input: Here, we report the cloning and characterization of RTVP-1b, a novel splice variant of human RTVP-1, which was isolated from the U87 glioma cell line.

glioma