Input: Recent epidemiological studies in Japanese-Americans and in Omagari area where HALP subjects with the intron 14 splicing defect of CETP gene are markedly frequent, have demonstrated an increased incidence of coronary atherosclerosis in CETP-deficient patients.

CETP

HALP

CETP

HALP


Input: Na2S also limited the severity of inflammasome-dependent inflammation in the model of peritonitis (P < 0. 05) in wild-type but not in miR-21 knockout mice.

peritonitis


Input: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

ARC) syndrome

ARC) syndrome


Input: As an outcome of the translocation, an evolutionarily conserved non-coding VISTA enhancer element from 13q21. 31 is placed within the TRPS1 5' region, 1, 294 bp from the breakpoint.

translocation


Input: As well as constituting definitive proof of the spermatogenic role of the DAZ gene product, these findings confirm the high degree of functional conservation between the DAZ and DAZL1 genes, suggesting they may constitute a single target for contraceptive intervention and raising the possibility of therapeutic up-regulation of the DAZL1 gene in infertile men.

DAZ

infertile


Input: These data suggest that HIP1 plays a functional role in tumorigenesis and that a positive HIP1 autoantibody test may be an important serum marker of prostate cancer.

tumorigenesis


Input: To evaluate the role of the PTEN/MMAC1 gene in sporadic thyroid tumors, we studied 17 sporadic thyroid tumors, of which 12 were papillary thyroid carcinomas, 1 was follicular thyroid carcinoma, 1 was medullary thyroid carcinoma and 3 were thyroid adenomas.

medullary thyroid carcinoma


Input: The methylation of the genes Ade-nomatous polyposis coli (APC), glycogen synthase kinase-beta-3 (GSK3beta) and eyes absent 4 (EYA4) was analyzed in 12 colon cancer and 12 normal tissues.

polyposis coli


Input: On B cells, monocytes, epithelial cells, and smooth muscle cells, IL-13 acts through the IL-13Ralpha1/IL-4Ralpha complex to directly induce activation responses that contribute to atopic disease.

atopic


Input: We surmise that high circulating levels of interleukin-6 (and ACTH) may have induced haemorrhagic necrosis of the adrenal glands and accounted for the constitutional symptoms.

ACTH

necrosis

ACTH

necrosis


Input: Wip1 overexpression induced by adenovirus and E (2) facilitated the proliferation of serum-starved ZR-75-1 cells, with cell proliferation induced by overexpressed Wip1 approximately 25% higher than that induced by E (2).

adenovirus


Input: Since NCAM gene polymorphisms and altered expression of alternatively spliced NCAM isoforms have been associated with bipolar depression and schizophrenia in humans, we hypothesized that reduced expression of NCAM renders individuals more vulnerable to the deleterious effects of stress on behavior.

NCAM

bipolar depression

NCAM

bipolar depression


Input: The neurological abnormalities in individuals with MCSZ may reflect a role for PNKP in several DNA repair pathways.

PNKP

abnormalities


Input: Our results contribute to a general understanding of the mechanism how APP is processed by the gamma-secretase module and strongly emphasize the potential of the GxxxG motif in the prevention of sporadic AD as well as FAD.

FAD

sporadic


Input: We show that BHD lungs exhibit increased alveolar epithelial cell apoptosis and that Flcn deletion in mouse lung epithelium leads to cell apoptosis, alveolar enlargement, and an impairment of both epithelial barrier and overall lung function.

Flcn

enlargement


Input: Key words; chromosome 6, translocation, c-Myb, AHI1.

translocation


Input: A protective association was observed for the slow NAT2 genotype (bladder cancer OR = 0. 3; 95% CI = 0. 1 = 1. 0) after adjustment for cumulative benzidine exposure and lifetime smoking.

smoking


Input: Furthermore, a significant inverse correlation between VEGF-A and proteinuria, as well as EGF and proteinuria, and a positive correlation between VEGF-A and hypoxia-inducible factor-1alpha mRNA was found.

EGF

proteinuria


Input: Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide.

Choline kinase beta

MDCMC

Choline kinase beta

MDCMC


Input: Transient global ischemia causes selective, delayed death of hippocampal CA1 pyramidal neurons in humans and animals.

ischemia


Input: Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy.

sensory neuropathy


Input: Several lines of evidence support the notion that the NF1 gene functions as tumor suppressor in these pilocytic astrocytomas and therefore it is tempting to hypothesize that the NF1 gene plays a similar role in sporadic pilocytic astrocytomas.

NF1 gene

sporadic


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

CCNH

glioblastoma multiforme

CCNH

glioblastoma multiforme


Input: In summary, the present studies support the hypotheses that PTH-induced bone marrow fibrosis is mediated by PDGF-A via a phosphoinositide 3-kinase-dependent signaling pathway and that increased LOX gene expression plays a key role in abnormal mineralization, a hallmark of chronic hyperparathyroidism.

PDGF-A

hyperparathyroidism


Input: Our results suggest that the over-expression of telomeric proteins, TRF1, TRF2, TIN2, TERT, and Ku70, and the transposition of the BRCA1 protein may work together to reduce the telomere length in precancerous lesions and gastric cancer, and could contribute to the multistage carcinogenesis of gastric cancer.

carcinogenesis


Input: Recombinant pcDNA3-ALR plasmid DNA (50 or 200 microg/kg) was injected into the rats with acute hepatic injury intravenously, intraperitoneally, or intravenously and intraperitoneally in combination 4 h after CCl (4) administration, respectively.

ALR

CCl (4)

ALR

CCl (4)


Input: The availability of the SDH gene sequence will enable characterization of the genotypes of sarcosinemia patients with different phenotypes.

SDH

sarcosinemia

SDH

sarcosinemia


Input: The effects of the polymorphisms in OSAHS group on body mass index (BMI), neck circumference (NC), waist/hip rate (WHR), apnea-hypopnea index (AHI), systolic blood pressure (SBP), and diastolic blood pressure (DBP) were analysed.

DBP

systolic blood pressure


Input: The role of the tumor suppressor gene p53 and proto-oncogenes mdm-2, waf-1, and bcl-2 in sporadic colorectal carcinoma (CRC) has been well investigated.

gene p53

sporadic


Input: In a sample of British women, body-mass index (BMI), systolic blood pressure, waist-to-hip ratio, serum concentrations of HDL cholesterol and triglycerides, and insulin resistance were all associated with plasma CRP concentration.

CRP

insulin resistance


Input: We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells.

CSNB

CSNB


Input: We conclude that brain ischemia attenuates PC2 and PC2-mediated neuropeptide processing.

brain ischemia


Input: The gastric mucosal immune response is thought to be comprised predominantly of the Th1 type; however, there are limited data regarding the role of IL-18 in Helicobacter pylori-induced inflammation.

inflammation


Input: We report a 28-year-old man with EB simplex with a missense keratin 14 mutation p. Arg125Cys associated with clumping of keratin filaments and acantholysis in mainly the spinous cells and basal cells.

keratin 14

acantholysis


Input: Moreover, we found that overexpressed RIOK2 formed a complex with RIOK1, mTor, and mTor-complex-2 components, and that overexpressed RIOK2 upregulated Akt signaling and promoted tumorigenesis in murine astrocytes.

tumorigenesis


Input: In contrast, MVMi did not complete its life cycle in any of the human nervous cells, though it efficiently killed the astrocytic tumor cells by two types of nonproductive infections: (i) normal synthesis of all viral macromolecules with a late defect in infectious virion maturation and release to the medium in U373; and (ii) high levels of accumulation of the full set of viral messenger RNAs and of both nonstructural (NS-1) and structural (VP-1 and VP-2) proteins, under a very low viral DNA amplification, in U87 and SW1088 cells.

nervous


Input: HER-2/neu is overexpressed in 25-30% of breast cancers, increasing the aggressiveness of the tumor.

aggressiveness


Input: Mutations of the MECP2 gene were identified in 64 of 75 (85. 33%) unrelated sporadic Rett syndrome girls.

Rett syndrome

Rett syndrome


Input: Endogenous N/OFQ sustained this response because N/OFQ peptide (NOP) receptor knockout (NOP (-/-)) mice were less susceptible to the hypokinetic action of reserpine than wild-type (NOP (+/+)) animals.

NOP

hypokinetic

NOP

hypokinetic


Input: Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.

MIM

developmental disorder


Input: In this study, we examined whether this downregulation occurs as the disease progresses from mild to severe stages or whether downregulation of PS2 expression is an early event in AD.

mild


Input: There was a nonsignificant trend for elevated chromogranin A, pancreatic polypeptide, gastric inhibitory polypeptide (but not glucagon) and history of bronchopulmonary carcinoid in MEN 1 patients with elevated glycaemia.

pancreatic polypeptide

carcinoid


Input: Ten-year follow-up of SpA-related oligoarthritis involving the knee: the presence of psoriasis but not HLA-B27 or baseline MRI bone oedema predicts outcome.

MRI

oligoarthritis


Input: Allelic distribution of the glycoprotein Ia (alpha2-integrin) C807T/G873A dimorphisms among caucasian venous thrombosis patients and six racial groups.

glycoprotein Ia

venous thrombosis


Input: The human TTF-1 and Pax-8 gene were transducted into the human thyroid carcinoma (K1 and F133) cells by the recombinant adenovirus, AdTTF-1 and AdPax-8.

adenovirus


Input: Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1, the locus for ARPKD, was mapped to chromosome 6p.

ARPKD

ARPKD


Input: The chi-square test, multivariable logistic regression analysis with adjustment for covariates, as well as a stepwise forward selection procedure revealed that the C-> T polymorphism (rs1324694) of ERLIN1, the C-> T polymorphism (rs12679196) of TRAPPC9, and the G-> T polymorphism (rs16936752) of WNK2 were significantly (P < 0. 05) associated with the prevalence of intracerebral hemorrhage, and that the A-> G polymorphism (rs3111754) of ITM2C and the A-> G polymorphism (rs10986769) of MAPKAP1 were significantly associated with the prevalence of subarachnoid hemorrhage.

intracerebral hemorrhage


Input: As compared with the normal brain and gliosis, examination of the average weighted scores in gliomas (Grade I, II, III, IV, respectively) showed significant up-regulation of: (i) p53 protein (0. 0 +/-0. 0; 0. 0 +/-0. 0; 0. 9 +/-0. 5; 1. 6 +/-0. 8; 1. 7 +/-0. 5; and 4. 1 +/-0. 8, P < 0. 0001) (ii) hMSH2 (1. 3 +/-0. 3; 1. 5 +/-0. 7; 1. 9 +/-1. 1; 2. 2 +/-0. 5; 4. 1 +/-1. 5; and 4. 7 +/-1. 1, P < 0. 0006), and (iii) BCL-2 (0. 8 +/-0. 5; 1. 9 +/-0. 5; 1. 9 +/-0. 6; 2. 0 +/-0. 6; 4. 4 +/-1. 2; and 4. 6 +/-0. 8, P < 0. 001).

gliosis


Input: Since eNOS did not associate with VEGF, FLK1 or FLT1, its synthesis seems not to be regulated through VEGF in malignant mesothelioma as has been shown in non-neoplastic endothelial cells.

VEGF

non-neoplastic


Input: Real-time RT-PCR, Western blot analysis, and enzyme-linked immunosorbent assay (ELISA) were conducted on CD18 and S2-013 human pancreatic cancer cells treated with apigenin (0-50 μM) in normoxic and hypoxic conditions to evaluate HIF-1α, GLUT-1, and VEGF mRNA and protein expression and secretion.

hypoxic


Input: The specific inhibition of LAT1 in oral cancer cells could be a new rationale for anti-cancer therapy.

oral cancer


Input: These genes include peptidoglycan recognition protein 2, dual specific phosphatase-4, tetraspanin 4, thrombospondin 1, and SPARC-related modular calcium binding protein-2, which were validated by qPCR analysis of 126 human liver specimens, including steatosis, fibrosis, and NASH, alcohol and hepatitis C cirrhosis, and in mouse models of liver inflammation and injury.

calcium binding protein

fibrosis


Input: Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations.

IDS

Hunter disease

IDS

Hunter disease


Input: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.

JME

JME


Input: A panel of pancreas development genes, including GCK, Kir6. 2, PTF1A, PDX-1, HNF-1A, NgN3, SOX17, SOX7, SOX9, INS, HNF1-B and SUR1 plus the GATA4 gene, were screened for characterization of pancreatic agenesis and cardiac defect.

cardiac defect


Input: Here, two new mutations and three previously reported were found in the PBG-D gene in 12 Argentinean AIP patients corresponding to 5 different families.

PBG-D

AIP

PBG-D

AIP


Input: We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described.

Jackson-Weiss syndrome

Jackson-Weiss syndrome


Input: The most interesting finding of this experiment was observed in the infected rabbit with the longest survival time of 105 days: HVP-negative lymphomas surrounded by HVP-induced LPD developed in the larynx and ileum of this rabbit, causing an obstruction of the lumen.

LPD

larynx


Input: Because RIPK2 and CASP1 are associated with interleukin-1beta production, increased expression might cause increased interleukin-1beta production in the febrile seizure patients.

febrile seizure


Input: The clinical manifestations of tuberculous pleuritis, such as fever, exudative pleural effusion, and tissue necrosis, may be due to the effects of elevated local TNF concentrations, produced in response to mycobacterial cell wall components.

TNF

exudative pleural effusion


Input: The observed extensive miRNA deregulation is likely the result of genome-wide effects of chromosomal instability caused by impaired BRCA1 or BRCA2 function.

chromosomal instability


Input: These findings indicate that HLA-DP rs3077 and rs9277535 were candidate susceptibility markers for cervical cancer in Chinese females.

HLA-DP

cervical cancer


Input: Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.

SMN

cerebellar hypoplasia


Input: The increased IFN-gamma may support the notion of gangrenous appendicitis as an uncontrolled Th1 mediated inflammatory response and increased IL-10 may speculatively indicate the involvement of cytotoxic cells in the progression to perforation.

IFN

appendicitis


Input: Ectopic TERE1 expression in J82 bladder cancer cells dramatically inhibited nude mouse tumorigenesis.

tumorigenesis


Input: IFN regulatory factor-1 is required for the up-regulation of the CD40-NF-kappa B activator 1 axis during airway inflammation.

activator 1

inflammation


Input: The most frequent occurrence of this situation results from the t (11; 22) (q24; q12) chromosome translocation specific for Ewing sarcoma (ES) and related tumors which joins EWS sequences to the 3' half of FLI-1, which encodes a member of the Ets family of transcriptional regulators.

EWS

chromosome translocation


Input: The aims of the present study were to localize IL-13 mRNA in positive tuberculin reactions and atopic dermatitis lesions using in situ hybridization and to study the possible influence of atopy on the cytokine gene expression in tuberculin reactions.

atopy


Input: One of 2 HLA-A * 0201-negative individuals inhibited the colony formation of HLA-identical chronic myelogenous leukemia progenitor cells (73% inhibition at 50: 1 effector-target [E/T] ratio), indicating that peptides other than PR1 can induce leukemia-reactive CTLs.

chronic myelogenous leukemia


Input: We previously found that glutamate activates normal human T-cells, inducing their adhesion and chemotaxis, via its glutamate receptors of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) subtype 3 (GluR3) expressed in these cells.

adhesion


Input: To explore the spectrum of p53 gene mutations of sporadic colorectal carcinoma in Guangxi, a Zhuang autonomous region in southern China, we examined exons 2 approximately 11 and exon-intron junctions of p53 gene from 48 patients with sporadic colorectal carcinoma by using single strand conformation polymorphism (SSCP) and DNA direct sequencing.

p53 gene

sporadic


Input: The gene for Cx37 was associated with subclinical atherosclerosis in women with type 1 and 2 diabetes and in women with advanced central obesity.

central obesity


Input: Transactivation of inducible nitric oxide synthase gene by Kruppel-like factor 6 regulates apoptosis during influenza A virus infection.

Kruppel-like factor 6

virus infection


Input: Non-CpG G: C > A: T transitions in the 35 codons are rare in familial cancers (p53, BRCA1, or BRCA2-related), but frequent in sporadic cancers in organs where Li-Fraumeni-related carcinogenesis is common e. g.

sporadic


Input: The plasma IL-8 content of the 4-week shunt + PPG group was (148 +/-29) micromol/L, significantly higher than that of the 4 week-shunt group [(118 +/-23) micromol/L, P < 0. 05], and the lung tissue ICAM-1 and MCP-1 levels of the 4-week shunt + PPG group were (27. 3 +/-5. 0) micromol/g and (12. 9 +/-1. 1) micromol/g respectively, both significantly higher than those of the 4-week shunt group [(21. 9 +/-2. 1) and (10. 2 +/-1. 4) micromol/g respectively, both P < 0. 05].

PPG

shunt


Input: Lipoprotein glomerulopathy (LPG) is a unique entity of renal lipidosis characterized by peculiar histopathologic characteristics of lipoprotein thrombi and an abnormal plasma lipoprotein profile resembling type III hyperlipoproteinemia, with a marked increase in serum apolipoprotein E (apoE) concentrations.

apolipoprotein E

lipidosis


Input: No significant correlation between clinical features with cytogenetic abnormalities was observed, although patients with IGH translocations were more likely to exhibit papilledema (P = 0. 018).

IGH

papilledema


Input: The positive HBVDNA granules in chronic hepatitis, liver cirrhosis and the paratumorous tissue were more intense than that in HCC.

HCC

chronic hepatitis


Input: Roles of hepatocyte growth factor and mast cells in thrombosis and angiogenesis.

hepatocyte growth factor

thrombosis

hepatocyte growth factor

thrombosis


Input: High-dose intensity pulse interleukin-2 with famotidine in metastatic kidney cancer.

kidney cancer

kidney cancer


Input: The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients.

CCD

CCD


Input: The atrophic process is associated with hind limb paralysis during aging in mice deficient for both NF-M and NF-H proteins.

NF-M

atrophic


Input: Diabetes-associated variants in CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8 and TCF7L2 are associated with physiological alterations leading to T2DM, such as glucose intolerance, impaired insulin secretion or insulin resistance, supporting their role in the disease aetiology.

glucose intolerance


Input: New case of trichorinophalangeal syndrome-like phenotype with a de novo t (2; 8) (p16. 1; q23. 3) translocation which does not disrupt the TRPS1 gene.

TRPS1 gene

translocation


Input: We have further studied a previously investigated sample of 187 major depressive disorder (MDD) patients, 171 bipolar disorder (BD) patients, and 288 controls, and tried to analyze the interaction between a set of variations of independent genes: the trace amine receptor 6 (rs4305745, rs8192625, rs7452939, rs6903874, and rs6937506) and the heat shock protein 70 (rs562047, rs1061581, rs2227956).

trace amine receptor 6

bipolar disorder

trace amine receptor 6

bipolar disorder


Input: The purpose of our investigation was to determine whether expression of AT1a angiotensin receptors (AT1aR) mRNA, V1a vasopressin receptors (V1aR) mRNA and neuronal nitric oxide synthase (NOS1) mRNA is altered in the brain of rats with the renovascular hypertension.

renovascular hypertension


Input: JPO1/CDCA7 is frequently overexpressed in human cancers, and in particular, its expression is highly elevated in chronic myelogenous leukemia blast crisis as compared with the chronic phase.

chronic myelogenous leukemia


Input: VGF level was lower in the spinal cords of sporadic ALS patients than in the control patients.

VGF

sporadic


Input: Our data suggest that hypoxia, caused possibly by microvascular alterations, up-regulates CTGF expression through the activation of HIF-1alpha in dermal fibroblasts of SSc patients, and thereby contributes to the progression of skin fibrosis.

CTGF

hypoxia


Input: Anthracyclines are used in over 50% of childhood cancer treatment protocols, but their clinical usefulness is limited by anthracycline-induced cardiotoxicity (ACT) manifesting as asymptomatic cardiac dysfunction and congestive heart failure in up to 57% and 16% of patients, respectively.

ACT

asymptomatic


Input: In hyperplasia, MLH1 hypermethylation was similarly observed (11/27 [41%]), but the PTEN mutation was less frequent (5/27 [19%]), observed only in atypical hyperplasias; among the 5 patients with a PTEN mutation, the 2 patients with frameshift mutations had MLH1 hypermethylation, but the 3 patients with missense mutations had unmethylated MLH1.

hyperplasia


Input: Here we show that the membrane protease matriptase initiates Netherton syndrome in a LEKTI-deficient mouse model by premature activation of a pro-kallikrein cascade.

matriptase

Netherton syndrome

matriptase

Netherton syndrome


Input: We have extended our LOH analysis of chromosome 3p to include 102 ovarian tumor specimens (29 and 73 samples were previously examined for LOH of chromosome 3p and 17 markers, respectively), using additional polymorphic markers, to assess the coordinate LOH of loci representing the three chromosome 3p minimal regions of deletions [von Hippel-Lindau syndrome (VHL), thyroid hormone receptor beta, and fragile histidine triad (FHIT)] and LOH of other important loci [tumor protein 53 (TP53), breast cancer 1 early onset (BRCA1), breast cancer 2 early onset, retinoblastoma 1, ornithine carbamoyltransferase, and androgen receptor] or somatic mutations in TP53.

ornithine carbamoyltransferase

breast cancer


Input: UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in COL6A2 and COL6A3.

UCMD

UCMD


Input: Clinical features associated with anti-Kv1. 4 antibody included bulbar involvement, myasthenic crisis, thymoma, myocarditis, and QT prolongation on electrocardiogram.

Kv1. 4

myocarditis


Input: Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS.

OPG

sporadic


Input: We report that striatal cells expressing mutant Huntingtin exhibit elevated sensitivity to cadmium toxicity and resistance to manganese toxicity.

Huntingtin

cadmium toxicity

Huntingtin

cadmium toxicity


Input: Further studies of Perlman syndrome patients with proven DIS3L2 mutations are needed to clarify genotype-phenotype correlation.

Perlman syndrome

Perlman syndrome


Input: To determine a possible involvement of this tumor suppressor gene in sporadic male breast cancer, we examined 30 sporadic male breast carcinomas for loss of heterozygosity (LOH) at two loci on chromosome 13q12-13, a region that spans the BRCA2 locus.

sporadic


Input: Two patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A.

mild


Input: Hypoxia-inducible factor 1 alpha (HIF1α) subunit was found to bind with strong affinity to a hypoxia response element sequence in the promoter of XPA.

XPA

hypoxia


Input: Diagnostic usefulness of p16/CDKN2A FISH in distinguishing between sarcomatoid mesothelioma and fibrous pleuritis.

FISH

sarcomatoid mesothelioma


Input: We found that varicella-zoster (VZV) infected cells had elevated levels of phosphorylated H2AX and phosphorylated ATM and that these levels increased in cells infected with VZV deleted for ORF61 or ORF63, but not deleted for ORF67.

zoster


Input: This leads us to conclude that the induction of HSP70 by hypoxia and heat shock occurs through the same regulatory HSEs but the activation of the inducible HSP70 gene by heat shock is several-fold higher than by hypoxia.

hypoxia


Input: A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Human Jurkat CD4 + T cell leukaemia cell line was used throughout the present study.

leukaemia


Input: These data demonstrate that the induction of detoxicating enzyme expression in HT29 cells exposed to hypoxia results from the induction of both transactivating factors that bind to the AP-1 element and of redox proteins that enhance their affinity for this element.

hypoxia


Input: Thus, the largest clonotypes within the inflamed joints of children with class II-associated arthritis are within the CD4 (+) synovial T cell population, while the dominant clones from children with enthesitis-related arthritis (associated with a class I allele) are within the CD8 (+) synovial T cell population.

arthritis


Input: Rag1 (-/-) mice had a reduced prevalence of alveolar hemorrhage compared with B6 (P = 0. 01) congenics.

hemorrhage


Input: The role of the familial breast cancer susceptibility genes, BRCA1 and BRCA2, in the homologous recombination pathway for DNA double-strand break (DSB) repair suggests that the mechanisms involved in DNA DSB repair are of particular etiological importance during breast tumorigenesis.

tumorigenesis


Input: Midkine prevents ventricular remodeling and improves long-term survival after myocardial infarction.

Midkine

ventricular remodeling


Input: NPM1 thus has an indirect but significant role in BER in vivo that may also be important for NPM1c + tumorigenesis.

tumorigenesis


Input: The expression of tumor necrosis factor (TNF)-alpha, interleukin (IL)-6 and-8, and monocyte chemotactic protein (MCP)-1 plus key CC chemokine receptors (CCR1 through 5) and CXC chemokine receptors (CXCR1 through 3) was quantified by real-time polymerase chain reaction (PCR) in gingival or peri-implant biopsies from 135 patients with well-controlled or poorly controlled diabetes and periodontal disease, 65 patients with periodontal disease but otherwise healthy, and 90 systematically and periodontally healthy subjects.

MCP

periodontal disease


Input: DHFR and Reduced folate carrier 1 (RFC1) semiquantitative expression was analyzed in 34 primary and metastatic osteosarcoma tissues by real-time polymerase chain reaction.

metastatic osteosarcoma


Input: We have identified such variants in two patients who had acute myelomonocytic leukemia and acute monocytic leukemia, characterized by a t (9; 11; 18) (p22; q23; q12) and a t (9; 11; 13) (p22; q23; q34), respectively.

acute myelomonocytic leukemia


Input: We studied 18 patients with aniridia, five of whom had chromosome deletion involving 11p13, two a translocation t (10; 11) (p13; p13) or a der (14; 21) (q10; q10) mat, and 11 had a normal karyotype.

chromosome deletion


Input: In the present study, we tested the effect of cessation of glomerular filtration by ureteral obstruction on renal ANG II generation in kidneys with podocyte injury under two experimental conditions.

ANG

ureteral obstruction


Input: The mRNA and protein expression levels of CISD2 were analyzed in eight cervical cancer cell lines and eight paired cervical cancer tumors by real-time PCR and Western blotting, respectively.

cervical cancer


Input: Amplification was equally prevalent in familial and sporadic tumours, but strikingly rare in BRCA1-and BRCA2-mutated tumours.

sporadic


Input: Intrathecal IL-1ra reversed paclitaxel-induced allodynia and intrathecal IL-10 gene therapy both prevented, and progressively reversed, this allodynic state.

allodynia

allodynia


Input: Malic enzyme 2 and susceptibility to psychosis and mania.

Malic enzyme 2

mania

Malic enzyme 2

mania


Input: The lipogenic transcription factor ChREBP dissociates hepatic steatosis from insulin resistance in mice and humans.

ChREBP

insulin resistance


Input: Olaparib, one of the most studied PARPis, has demonstrated activity in BRCA1/2 (MUT +) and BRCA-like sporadic ovarian and breast cancers, and looks promising in prostate and pancreatic cancers.

MUT

sporadic


Input: Immunohistochemically, although only a small part of the epithelium with intestinal metaplasia in 2 of 4 cases with adenomyomatosis showed Reg IV expression, Reg IV was negative in all cases with normal gallbladder (n = 15) and cholelithiasis (n = 13).

Reg IV

cholelithiasis


Input: Supine resting systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse pressure, and heart rate (HR) were measured by a Dinamap instrument and hemodynamics (stroke volume, cardiac index, and total peripheral resistance [TPR] index) by impedance cardiography.

DBP

systolic blood pressure


Input: Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility.

MIM

wide cranial sutures


Input: In summary, activation of the PI3K/AKT in addition to MAPK/ERK signaling pathways may underlie biological aggressiveness in PA.

aggressiveness


Input: Our data indicate that reductions in KCC2 gene expression may contribute to selective motor deficits and disease progression in vulnerable motoneurons in a mouse model of ALS.

motor deficits


Input: Taken together, our findings showed that XEDAR is a putative tumor suppressor that could prevent malignant transformation and tumor progression by regulating apoptosis and anoikis.

XEDAR

tumor progression


Input: Knockdown of interferon-induced transmembrane protein 1 (IFITM1) inhibits proliferation, migration, and invasion of glioma cells.

glioma


Input: A novel mutation in the DNA-binding domain of MAF at 16q23. 1 associated with autosomal dominant " cerulean cataract " in an Indian family.

MAF

cerulean cataract

MAF

cerulean cataract


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

PDGFRB

schizoaffective disorder

PDGFRB

schizoaffective disorder


Input: Given that a similar mechanism has been reported in motor neuron degeneration of amyotrophic lateral sclerosis, abnormalities of RNA/RNA-binding protein complex may play a role in the neuronal degeneration of CMT2P.

RNA-binding protein

abnormalities


Input: Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families.

APC

FAP

APC

FAP


Input: Granulosa and cumulus cells were analyzed for mRNA expression of insulin signaling components (IRS-2 and Glut4), glucose-regulated genes (ChREBP, ACC, and FAS) and insulin-regulated genes (SREBP-1, CD36, and SR-BI) associated with obesity/insulin resistance.

ChREBP

insulin resistance


Input: However, SIRT1 prevented endothelial superoxide production, inhibited NF-kappaB signaling, and diminished expression of adhesion molecules.

NF-kappaB

adhesion


Input: FMO3 genotype and allele frequency was not significantly associated with auditory hallucinations or delusions.

auditory hallucinations


Input: Compared with myometrial SMC, cells derived from leiomyomas had significantly higher levels of both Wnt5b and sFRP1 transcripts.

leiomyomas

leiomyomas


Input: The result showed that pulmonary inflammation, pulmonary edema, MPO activity, total cells, neutrophils, macrophages, TNF-α, IL-6, IL-1β and CXCL-10 in BALF were attenuated by NAC.

MPO

pulmonary edema


Input: The HE (3 to 100 mg kg (-1), p. o., 1 h) inhibited in a graded manner, the hyperalgesia induced by bradykinin (3 nmol/paw) or substance P (10 nmol/paw) in rat paw, with mean ED50 values of 54. 5 and 53. 7 mg kg (-1), respectively.

substance P

hyperalgesia

substance P

hyperalgesia


Input: High-risk lesions that were screen detected by MRI in three women included radial scars and atypical lobular hyperplasia.

MRI

atypical lobular hyperplasia


Input: Two patients with post-kala-azar dermal leishmaniasis did not have detectable IL-6 in their circulation.

kala-azar

kala-azar


Input: Here we studied the expression of cytokines IL-6, LIF, IL-1beta and TNFalpha and cytokine receptors IL-6R, LIFR and Gp130 in the rat brain after kainic acid-induced status epilepticus using Northern blot analysis and in situ hybridization histochemistry.

LIF

status epilepticus


Input: SAMP mice receiving wild-type (AKR) BM developed severe ileitis, whereas SAMP BM did not confer ileitis to WT recipients.

SAMP

ileitis


Input: AIM: BIM deletion polymorphism was deemed to be associated with downregulation of BIM, resulting in a decreased apoptosis induced by epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) in EGFR mutation-positive non-small cell lung cancer (NSCLC).

AIM

non-small cell lung cancer


Input: In the patients with Gilbert' s syndrome, mutations have been reported in the promoter and exons of the uridine diphosphate-glucuronosyl transferase 1 (UGT1A1) gene on chromsome 2q37, which encodes bilirubin uridine diphosphate-glucuronosyltransferase.

Gilbert' s syndrome

Gilbert' s syndrome


Input: We detected reduced GAP-43 mRNA per neuron in layers III, V and VI of patients with schizophrenia compared with normal controls and patients with bipolar disorder.

bipolar disorder

bipolar disorder


Input: Mechanistic investigations showed how PELP1 interacted with GR to activate Brk expression and demonstrated that physiologic cell stress, including hypoxia, promoted phosphorylation of GR serine 134, initiating a feed-forward signaling loop that contributed significantly to Brk upregulation.

hypoxia


Input: The wild type ins-allele of polymorphism NFKB1-94 ins/delATTG was, by multivariate Cox analysis, associated with longer time to treatment failure (p = 0. 01) and overall survival (p = 0. 0084) when tested between treatment arms and in the subgroup of patients treated with interferon-alpha the wild type ins-allele was associated with longer overall survival (p = 0. 002).

arms


Input: We show here that MOZ is an acetyltransferase of p53 at K120 and K382 and colocalizes with p53 in promyelocytic leukemia (PML) nuclear bodies following cellular stress.

MOZ

promyelocytic leukemia


Input: Our data suggest that KCTD11 may play an important role in MB tumorigenesis, but do not support the role of HIC1 in this tumor development.

tumorigenesis


Input: These findings expand the catalog of SLC20A2 mutations identified to date and add dynamic aphasia to the spectrum of neuropsychological deficits reported in IBGC, supporting the use of functional neuroimaging studies for better investigation of genotype-phenotype correlations.

aphasia


Input: Here, we report ten novel VMD2 mutations identified in clinically diagnosed BMD patients.

BMD

BMD


Input: Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.

addiction


Input: The depletion of CD4 (+) CD25 (+) T cells enhanced thyroiditis induction in the context of either H2E or H2A.

thyroiditis


Input: Furthermore, deficiency in p75 (NTR) limits infarct size after I-R.

NTR

infarct


Input: Immunostaining showed that MACC1 protein was localized in both nuclei and cytoplasm of HCC cell lines and the nuclear localization of MACC1 protein was associated with increased aggressiveness of HCC in cell lines.

HCC

aggressiveness


Input: From microarray analysis, an empirically-derived HNF1B signature was significantly enriched for computationally-predicted targets (with HNF1 binding sites) (P < 0. 03), as well as genes associated with glycogen metabolism, including glucose-6-phophatase, and strikingly the blood clotting cascade, including fibrinogen, prothrombin and factor XIII.

fibrinogen


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.

ORMDL3 gene

asthma susceptibility


Input: Furthermore, arvelexin reduced p65 NF-κB subunit translocation to the nucleus and IκBα degradation in the colonic tissues and in TNF-α-induced HT-29 cells.

TNF-α

translocation


Input: We assessed heat shock protein 60 (hsp60) gene expression as an index of cellular stress and C-reactive protein, erythrocyte sedimentation rate, and fibrinogen as systemic inflammatory markers.

fibrinogen


Input: We therefore constructed Ad [CgA-E1A], a novel replication-selective oncolytic adenovirus, where the chromogranin A (CgA) promoter controls expression of the adenoviral E1A gene.

chromogranin A

adenovirus


Input: Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0. 0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups.

cystatin C

creatinine level


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

RPE

adhesion


Input: To further ascertain whether the detection of t (1; 14) (p22; q32) and t (11; 18) (q21; q21) can be reliably used for the differential diagnosis between lymphoplasmacytic lymphoma and mucosa-associated lymphoid tissue lymphoma, we screened for these translocations by BCL10 immunohistochemistry in 58 lymphoplasmacytic lymphomas and RT-PCR for t (11; 18) (q21; q21) in 40 lymphoplasmacytic lymphomas, respectively.

mucosa-associated lymphoid tissue lymphoma


Input: Tryptase induced PASMC proliferation and migration as well as enhanced synthesis of fibronectin and matrix metalloproteinase-2 in a PAR-2-and ERK1/2-dependent manner, suggesting that PAR-2-dependent signaling contributes to vascular remodeling by various mechanisms.

vascular remodeling


Input: Our results demonstrate that the IEGs, egr1 and arc, may significantly contribute to synaptic reorganization induced by the kindling of seizures.

arc


Input: In chronic lymphocytic leukemia, important biomarkers include expression of CD38 and ZAP-70, IGVH mutational status, somatic mutations in TP53 and NOTCH1, and abnormalities in chromosomes 11, 12, 13q, and 17.

abnormalities


Input: We investigated the effects of CGA on glucose tolerance, insulin sensitivity, hepatic gluconeogenesis, lipid metabolism and skeletal muscle glucose uptake in Lepr (db/db) mice.

CGA

insulin sensitivity


Input: Hence, misguided signaling through CD5 could lead to autoimmunity.

autoimmunity


Input: The better control of bacillary concentrations and pulmonary infiltration observed in C57BL/6 mice from week 3 postinfection could result from their higher RANTES, ICAM-1, and gamma interferon (IFN-gamma) mRNA levels.

IFN

pulmonary infiltration


Input: We authors believe that this is the first documented case of ACTH-producing Grawitz tumor in the literature.

ACTH

Grawitz tumor

ACTH

Grawitz tumor


Input: Early methylation of p16IK4 and E-cadherin in the chondroid compartment could point to the monoclonal origin of demonstrated dedifferentiated chondrosarcoma.

E-cadherin

chondrosarcoma


Input: The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload.

GRACILE syndrome

metabolic disorder


Input: Clinical signs of a new canine NCL began in a 9-month-old male Dachshund with vomiting, mental dullness, and loss of previously learned commands and rapidly progressed to include disorientation, ataxia, visual deficits, generalized myoclonic seizures, and death at 12 months of age.

NCL

disorientation


Input: Split FISH assay using BCL1, BCL3, IGH, and CCND1 probes on lymph node specimens obtained at presentation and at autopsy confirmed that the translocation of BCL3 was solely detected in the lymph node at presentation and detected BCL3 and CCND1 translocations in the specimen at autopsy.

translocation


Input: Incomplete penetrance observed in atrial standstill has been attributed in part to the digenic inheritance of polymorphisms in the atrial-specific gap junction connexin 40 (Cx40) in conjunction with an SCN5A mutation.

atrial standstill


Input: The most strongly associated SNP with SLE was the rs9271366 (odds ratio, OR = 1. 70, p = 5. 6 & #215; 10 (-5)) near the HLA-DRB1 gene.

SLE

SLE


Input: Fanconi anemia (FA) is a genetically complex chromosomal instability disorder involving seven or more genes, one of which is BRCA2.

chromosomal instability


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

translocation


Input: In all, 11 distinct chromosome 5 regions with LOH were observed, the most frequent being 5q35. 3 (82%), 5q14. 2 (71%) and 5q33. 1 (69%) in BRCA1 tumors; 5q35. 3 (44%), 5q31. 3 (43%) and 5q13. 3 (43%) in BRCA2 tumors and 5q31. 3 (43%) in sporadic tumors.

sporadic


Input: In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31.

insulin receptor

Leprechaunism

insulin receptor

Leprechaunism


Input: For each propositus, we sequenced the three exons and intron-exon boundaries of CDKN1C in patients presenting a BWS phenotype, including abdominal wall defects, without 11p15 methylation defects.

BWS

BWS


Input: Results showed a high level of expression of RAGE mRNA in the CA1/2 pyramidal cell layer of the hippocampus on the lesioned side of the brain 72 h after a moderate hypoxic-ischemic insult.

RAGE

hypoxic


Input: UVSSA was found to be the causative gene for UV (S) S, an unresolved NER deficiency disorder.

UVSSA

UV (S) S

UVSSA

UV (S) S


Input: CXCL16 correlated with erythrocyte sedimentation rate, C reactive protein, disease activity, serum rheumatoid factor, and RANKL.

RANKL

erythrocyte sedimentation rate


Input: Biglycan is an important proteoglycan of the extracellular matrix of intervertebral disc (IVD), and its decrease with aging has been correlated with IVD degeneration.

IVD

aging


Input: Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism.

TRAIP

microcephalic primordial dwarfism

TRAIP

microcephalic primordial dwarfism


Input: Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.

acid ceramidase

Farber disease

acid ceramidase

Farber disease


Input: To address whether Arg1 could perform similar functions in hypoxic regions of TB granulomas, we used a TB murine granuloma model in which NOS2 is absent.

hypoxic


Input: Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.

prothrombin

bleeding disorder

prothrombin

bleeding disorder


Input: Early-onset of sporadic basal-cell carcinoma: germline mutations in the TP53, PTCH, and XPD genes.

sporadic


Input: The levels of TP53, BRCA1 and TERT were assessed in 55 sporadic colorectal tumors and 37 normal mucosas using tissue microarrays and immunohistochemical detection, and their associations with DNA aneuploidy, levels of mitotic spindle proteins AURKA, AURKB, MAD2L1 and BUB1B and clinicopathological parameters were investigated.

aneuploidy


Input: Moreover, the CDKI gene CDKN2C/p18 (INK4C) has been also implicated in endocrine neoplasia susceptibility.

endocrine neoplasia


Input: It can be concluded that NAC diminishes oxidative stress in human testicular cancer cells induced by bleomycin and H (2) O (2).

NAC

testicular cancer


Input: Loss of Tmem94 in mouse & #160; model generated by CRISPR/Cas9 was embryonic lethal and led to craniofacial and cardiac abnormalities and abnormal neuronal migration pattern, suggesting that this gene is important in craniofacial, cardiovascular, and nervous system development.

cardiac abnormalities

cardiac abnormalities


Input: Although biliary cirrhosis associated with MDR3 deficiency typically appears before the age of 25 years, in our case, the relatively mild MDR3 dysfunction allowed for a slower progression of the disease with established, well-advanced cirrhosis in the fifth decade of life.

MDR3 deficiency

MDR3 deficiency


Input: Gabexate mesilate treatment significantly decreased the elevation of serum transaminase levels and improved liver histology 24 h after the administration of CCl4 (0. 2 ml/100 g rat weight).

weight


Input: Hemoglobin A1c levels, systolic blood pressure (SBP), diastolic blood pressure (DBP) and duration of diabetes, which are potential risk factors for DR, were also compared.

DBP

systolic blood pressure


Input: We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming.

abnormalities


Input: Since the transcription factor aryl hydrocarbon receptor (AhR) regulates the expression of CYP1A2 and the disruption of the AhR gene causes liver injuries, we hypothesized that downregulation of AhR plays an important role in the reduced hepatic CYP1A2 during sepsis.

AhR gene

sepsis


Input: One DCC allele is also deleted in 50% of human colon adenomas, but results from protein expression studies have differed as to whether complete loss of DCC expression could occur in colon adenomas, or instead correlates with progression of colon adenoma to carcinoma.

DCC

colon adenoma


Input: Our results suggest that the biosynthetic pathways of the monoamine neurotransmitters that are mediated by TH and GCH might be associated with the CFS clinical findings, because persistence is one of the typical personality traits observed in CFS and patients with major depressive disorder exhibit a higher harm avoidance score.

TH

major depressive disorder

TH

major depressive disorder


Input: SHBG levels correlated inversely with body mass index and waist circumference (P < 0. 05).

SHBG

body mass index


Input: Stress-induced p38 mitogen-activated protein kinase activation mediates kappa-opioid-dependent dysphoria.

p38 mitogen-activated protein kinase

dysphoria

p38 mitogen-activated protein kinase

dysphoria


Input: Despite the loss of p53, BRCA1-deficient tumor cells exhibit increased sensitivity to cisplatin, and patients with BRCA1-associated ovarian carcinomas experience improved outcomes with platinum-based chemotherapy compared with sporadic cases.

sporadic


Input: Reduced adenosine uptake via human equilibrative nucleoside transporter 1 (hENT1) in human umbilical vein endothelial cells (HUVECs) from gestational diabetes mellitus (GDM) is reversed by insulin by restoring hENT1 expression.

equilibrative nucleoside transporter 1

diabetes mellitus


Input: A replication study in an independent Norwegian lung cancer population of multiple cancer histotypes failed to replicate the significant association of BHLHB3 Ala298Val with survival; such association, however, was confirmed by analysis of ADCA only from both populations.

ADCA

lung cancer


Input: The tumor suppressor gene p53 has an apparent role in breast tumor development in humans, as approximately 30% of sporadic tumors acquire p53 mutations and Li-Fraumeni syndrome patients carrying germ line p53 mutations frequently develop breast tumors at early age.

sporadic


Input: To explore the association of RAS with the progression from fibrosis to cirrhosis to HCC, liver specimens and serum samples were collected from patients with hepatic fibrosis, cirrhosis and HCC.

HCC

fibrosis


Input: Apolipoprotein A-I (ApoA-I), a primary protein component of high-density lipoprotein (HDL), plays an important role in cholesterol metabolism mediating the formation of HDL and the efflux of cellular cholesterol from macrophage foam cells in arterial walls.

Apolipoprotein A-I

foam cells


Input: The highest frequency of Coxsackie infections in the Slovakian child population, and of' diabetic' births and manifestations, found earlier together with maximal risks from HLA II and IA-2A antibodies in late summer and early autumn, is now confirmed also for the insulin gene pattern in diabetic children and even also for their healthy close relatives.

insulin gene

infections


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-).

ankylosing spondylitis


Input: There has been increasing evidence that pseudohypoxia--a phenomenon that we refer to as " gasping for air "--along with mitochondrial enzyme dysregulation play a crucial role in tumorigenesis, particularly in several hereditary pheochromocytomas (PHEOs) and paragangliomas (PGLs).

PGLs

tumorigenesis


Input: This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome.

XLSA/A

XLSA/A


Input: Forty-two children, mean age 6. 4 years (range 9 months to 15 years), received an allogeneic BMT for: acute lymphoblastic leukaemia (ALL), n = 17; acute myeloid leukaemia (AML), n = 5; biphenotypic leukaemia, n = 1; myelodysplastic syndrome (MDS), n = 5; chronic granulocytic leukaemia (CGL), n = 1; severe aplastic anaemia (SAA), n = 7; familial erythrophagocytic lymphohistiocytosis (FEL), n = 2; beta thalassaemia major (beta thal), n = 1; and juvenile chronic myeloid leukaemia (JCML), n = 3.

SAA

leukaemia


Input: We studied baseline lung function (forced expiratory volume in 1 s (FEV (1)), forced vital capacity (FVC) and FEV (1)/FVC), bronchial hyperresponsiveness, number of positive skin prick tests (SPT) to 11 allergens, serum total immunoglobulin (Ig) E, number of positive specific IgE tests to four allergens and eosinophil counts.

SPT

vital capacity


Input: We conducted a comprehensive analysis of the APA products in glioblastoma multiforme (GBM, one of the most lethal brain tumors) and normal brain tissues and further developed a computational pipeline, RNAelements (http://sysbio. zju. edu. cn/RNAelements/), using covariance model from known RNA binding protein (RBP) targets acquired by RNA Immunoprecipitation (RIP) analysis.

APA

brain tumors


Input: The reduced activity of DNA topoisomerase II in ataxia-telangiectasis cells might be explained by amino acid substitutions, small deletions in DNA or by a defect in post-translational modification in these cells.

DNA topoisomerase II

telangiectasis


Input: None of the non-neoplastic thyroid tissues, including Graves' thyroid and adenomatous goiter, had diffuse positivity of Runx2.

non-neoplastic


Input: Expression studies of the wildtype and mutant forms of UCP2 should clarify the functional consequences these mutations may have on energy metabolism and body weight regulation.

body weight


Input: The miR-34a/NAMPT axis presents a potential target for treating obesity-and aging-related diseases involving SIRT1 dysfunction like steatosis and type 2 diabetes.

steatosis

steatosis


Input: Phosphatase and tensin homologue and pituitary tumor-transforming gene in pituitary adenomas. Clinical-pathologic and immunohistochemical analysis.

tensin

pituitary tumor


Input: Inhibition of cyclin D1 function markedly attenuates the proliferation of fibroblasts of colon, esophageal, lung, and pancreatic cancer.

cyclin D1

esophageal


Input: EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.

chromosomal instability


Input: Mismatch repair (MMR) deficiency is a major mechanism of colorectal tumorigenesis that is observed in 10-15% of sporadic colorectal cancers and those associated with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome.

MMR

tumorigenesis


Input: Previous human and animal studies have implicated XRCC5 in alcohol sensitivity.

alcohol sensitivity

alcohol sensitivity


Input: In contrast, thymidine phosphorylase mRNA was higher in cancer cells than in cancerous stroma in gastric cancer (p & lt; 0. 0001) and lower in cancer cells than in cancerous stroma in colon cancer (P = 0. 0055).

thymidine phosphorylase

colon cancer

thymidine phosphorylase

colon cancer


Input: The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical.

Kabuki syndrome

Kabuki syndrome


Input: Reduced MBP mRNA in schizophrenia replicates findings in other brain regions and is consistent with oligodendrocyte involvement in the disorder.

MBP

schizophrenia

MBP

schizophrenia


Input: After 7 weeks of diabetes, diabetic mice lacking Vegfa in podocytes exhibited significantly greater proteinuria with profound glomerular scarring and increased apoptosis compared with control mice with diabetes or Vegfa deletion without diabetes.

Vegfa

scarring


Input: These data support the hypothesis that PRL phosphatases regulate key pathways involved in tumorigenesis and metastasis and that knockdown of both PRL-1 and PRL-2 is required to disrupt PRL phosphatase function in pancreatic cancer cells.

pancreatic cancer


Input: These data demonstrate CXCR4-MIF associations occur in vivo in rat bladder and increase in experimental cystitis.

MIF

cystitis


Input: The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB.

abnormalities


Input: A gain of function mutation (Q551-> R) in the IL-4 receptor alpha-chain (IL-4Ralpha) has been found to be associated with atopy in some studies but not others.

alpha-chain

atopy


Input: Matrigel invasion assay showed that prostate cancer cell line PC-3, containing amplification of the uPA gene, was more sensitive to the urokinase inhibitor, amiloride, than DU145 or LNCaP cell lines, which do not have the amplification.

uPA

prostate cancer

uPA

prostate cancer


Input: Potentiation of the malignant phenotype of ARO cells by bcl-2 was not ascribed to altered expression of (i) cytokine/growth factors (IL-4, IL-6, IL-8, IL-10, IL-12, TGF-alpha, TGF-beta), (ii) thyroid-specific transcripts (TG, TPO, TSH-R, PIGF, PAX-8) or (iii) genes influencing tumor aggressiveness [VEGF, HMGI (Y), HMGI-C].

aggressiveness


Input: The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs.

atopic


Input: Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.

keloid

keloid


Input: The parameters examined included: 1) behavioural and cognitive deficit using the Rotarod, open field and novel object recognition tests; 2) axonal pathology (NF-200); 3) callosal degradation (hematoxylin and eosin stain); 3) dendritic loss (MAP2); 4) expression and localisation of the EPO receptor (EpoR); 5) activation/infiltration of microglia/macrophages (CD68) and production of IL-1β.

cognitive deficit


Input: Increased expression of ICAM-1 and VCAM-1 in the lung of nitrofen-induced congenital diaphragmatic hernia in rats.

diaphragmatic hernia

diaphragmatic hernia


Input: Burn-CLP injury resulted in a rapid loss of EDL weight, increased ubiquitin-conjugated proteins and increased protein carbonyl groups.

EDL

weight


Input: Molecular pathology of primary and metastatic ductal pancreatic lesions: analyses of mutations and expression of the p53, mdm-2, and p21/WAF-1 genes in sporadic and familial lesions.

sporadic


Input: In this study, we assessed transcript expression of PinX1, the correlation between PinX1 mRNA level and telomere length and telomerase activity, as well as sequence alteration, in 24 HCCs and their adjacent non-HCC tissues from patients with B viral chronic hepatitis/cirrhosis.

HCC

chronic hepatitis


Input: CL1-R2 reduced fibroblast growth factor 2-induced neovascularization in the rabbit cornea, in a mouse model of oxygen-induced retinopathy, and in a mouse Matrigel plug assay.

neovascularization


Input: These results indicate that HBc may prevent hepatocytes from TRAIL-induced apoptosis by blocking DR5 expression, which in turn contributes to the development of chronic hepatitis and HCC.

HCC

chronic hepatitis


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.

neuropeptide Y

anxiety

neuropeptide Y

anxiety


Input: RNA interference was used to inhibit CDH13 expression in bladder TCC 5637 cells and then analyzed its effects on migration, invasion, adhesion, and proliferation of 5637 cells, as well as MMP2 expression in 5637 cells.

adhesion


Input: t (8; 13) (p11; q12) translocation in a myeloproliferative disorder associated with a T-cell non-Hodgkin lymphoma.

myeloproliferative disorder


Input: To determine the characteristics of B19 viruses involved in such cases, we molecularly cloned a part of the B19 DNAs derived from the sera of three patients with encephalopathy (B19 strains N80, N81 and N82), following amplification by PCR.

encephalopathy


Input: Recently targeted disruption of Omi/HtrA2 has been found to cause neurodegeneration and a parkinsonian phenotype in mice.

neurodegeneration


Input: Human: ten patients with heterozygous mutations in DSP without overt structural heart disease (DSP +) and 12 controls with supraventricular tachycardia were studied by high-density electrophysiological mapping of the right ventricle.

DSP

supraventricular tachycardia


Input: Lymphoepithelial carcinoma (LEC) is a descriptive diagnosis for an undifferentiated carcinoma that has a typical morphologic appearance of large vesicular cells with prominent nucleoli and infiltrating lymphocytes.

LEC

undifferentiated carcinoma


Input: There are novel complex heterozygous mutations of PDE6B gene responsible for a sporadic RP patient in China.

PDE6B gene

sporadic


Input: Among the most consistent results of studies of post-mortem brain tissue from schizophrenia patients (SZP) is the finding that in this disease, several genes expressed by GABAergic neurons are downregulated.

SZP

schizophrenia


Input: Increased levels of soluble Fas ligand in CSF of rapidly progressive HTLV-1-associated myelopathy/tropical spastic paraparesis patients.

Fas ligand

rapidly progressive


Input: This integrated approach has led to identification of CACNG2 as a novel neuropathic pain gene affecting pain susceptibility both in mice and humans.

neuropathic pain


Input: Among them, four proteins with significant up-regulation, namely calcium-binding protein 1, protein disulfide isomerase, mitochondrial aldehyde dehydrogenase precursor, and, glutathione-S-transferase mu1 and six proteins with significant down-regulation, namely catechol-O-methyltransferase, hemoglobin-alpha-2-chain, hemopexin precursor, methionine sulfoxide reductase A, catalase and carbonic anhydrase 3, were identified.

hemopexin

hemoglobin


Input: FAM20A mutations associated with enamel renal syndrome.

enamel renal syndrome

enamel renal syndrome


Input: Thus, TNF-alpha-induced RANTES expression may have a critical role in cell-mediated liver injury associated with alcoholic hepatitis.

TNF

alcoholic hepatitis

TNF

alcoholic hepatitis


Input: We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.

sudden cardiac death

sudden cardiac death


Input: We have reported that hypoxia affects the hypothalamic-pituitary-adrenal (HPA) axis and behavior by driving the expression of central corticotropin-releasing hormone (CRH) and its receptors in adult mammals, and this effect is modulated by other factors.

HPA

hypoxia


Input: Two alternative mechanisms have been proposed to explain the development of testicular tissue in these subjects: (1) translocation of chromosomal material encoding the testicular determination factor (TDF) from the Y to the X chromosome or to an autosome, or (2) an autosomal dominant mutation that permits testicular determination in the absence of TDF.

TDF

translocation


Input: By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification of a novel homozygous deletion of exon 7 in MEGF10.

EMARDD

EMARDD


Input: However, in substantial well-controlled studies in C57BL/6 mice challenged with Escherichia coli O111: B4 LPS, we show in this work that significant protection against lethality was conferred neither by an autologous acute-phase response to sterile inflammatory stimuli given to wild-type mice 24 h before LPS challenge, nor by human CRP, whether passively administered or expressed transgenically.

CRP

sterile


Input: Postoperative primary CHT was found significantly to influence the survival of classic medulloblastoma (CMB) (OS p < 0. 001, EFS p < 0. 001), SHH subgroup (OS p = 0. 020, EFS p = 0. 049) and WNT subgroup (OS p = 0. 003, EFS p = 0. 016) but not in desmoplastic/nodular medulloblastoma (DMB) (OS p = 0. 361, EFS p = 0. 834) and Non-SHH/WNT subgroup (OS p = 0. 127, EFS p = 0. 055).

CHT

desmoplastic/nodular medulloblastoma


Input: Overexpression of miR-132 in primary cultures of hippocampal neurons or delivered directly into the CA1 of living rats by means of the lentiviral expression system prior to induction of ischemia afforded robust protection against ischemia-induced neuronal death.

ischemia


Input: Immunofluorescence studies showed that VIP increases translocation of the p50 subunit of NF-κB1 to the nucleus, an effect that was inhibited by curcumin.

translocation


Input: The beat shock protein HSP70 recognizes a specific region of SOX9 hitherto of unknown function which may facilitate the assembly of multi-protein complexes at promoter enhancer regions.

shock


Input: HCS should be recognized as a distinct thalassemia syndrome with a high risk of life-threatening anemia during febrile illnesses.

HCS

febrile


Input: Altered imprinting of the H19 and insulin-like growth factor II genes in testicular tumors.

testicular tumors


Input: The expression of LOX protein in breast cancer, cancer-adjacent normal breast tissues and benign breast tumor were 48. 6% (54/111), 26. 1% (29/111), 20. 0% (4/20), respectively, associations being noted with clinical stage, lymph node metastasis, tumor size and ER, PR, HER2, but not age.

LOX

benign breast tumor


Input: The CC genotype of rs4307059 located in the region between CDH9 and CDH10 is associated with completed suicide in a Polish cohort.

suicide


Input: RESULTS: Carriers of the NEDD4L salt sensitivity-associated genotype had (mean ± SEM) higher systolic (142 ± 0. 4 vs. 141 ± 0. 1 mmHg, P = 0. 002) and diastolic (86. 0 ± 0. 5 vs. 85. 6 ± 0. 2 mmHg, P = 0. 025) blood pressure and multivariate adjusted hazards ratio (95% confidence interval) of CVD 1. 13 (1. 02-1. 25, P = 0. 018), coronary events 1. 20 (1. 06-1. 37; P = 0. 005) and cardiovascular mortality 1. 17 (0. 99-1. 37; P = 0. 055) than noncarriers but there was no significant difference in the incidence of stroke and total mortality.

blood pressure


Input: Myocardial myostatin mRNA and protein expression were up-regulated in the rat model of volume-overload heart failure.

myostatin

heart failure

myostatin

heart failure


Input: We sought to determine whether serum RBP4 levels correlate with insulin resistance and change after an intervention that improves insulin sensitivity.

insulin sensitivity


Input: The rates of IMP3 expression and absence of CK8/18 (44% versus 2%) in BRCA-mutated breast carcinomas was significantly higher than the sporadic breast carcinomas (p = 0. 002 and p < 0. 001).

sporadic


Input: Beta2-adrenergic receptor Thr164Ile (threonine (Thr) is replaced by an isoleucine (Ile) at codon 164) polymorphism was postulated to contribute to lower exercise tolerance and poor prognosis in patients with congestive heart failure.

congestive heart failure


Input: Other associations (p < 0. 05) were observed between factor V and protein C, fibrinogen and protein C, factor V and antithrombin III and protein C and antithrombin III.

antithrombin III

fibrinogen


Input: The negative regulators of Wnt pathway-DACH1, DKK1, and WIF1 are methylated in oral and oropharyngeal cancer and WIF1 methylation predicts shorter survival.

oropharyngeal cancer


Input: ULK4 modulates multiple signalling pathways that include ERK, p38, PKC and JNK, which are involved in stress responses and implicated in schizophrenia.

JNK

schizophrenia

JNK

schizophrenia


Input: In the present study, we tested the hypothesis that EPO may protect against DOX-induced cardiomyopathy through anti-apoptotic mechanisms both in vitro and in vivo.

EPO

cardiomyopathy

EPO

cardiomyopathy


Input: We recently demonstrated that phospholipase C (PLC)-delta1 activity in cultured skin fibroblasts obtained from patients with coronary spastic angina (CSA) is enhanced.

angina


Input: OBJECTIVE: To clarify the association between the p53 polymorphism at codon 72 and susceptibility to the sporadic keratocystic odontogenic tumor (KCOT).

sporadic


Input: The expression of SERCA mRNA and protein were downregulated (P & lt; 0. 01), but the expression of PLB mRNA and protein were upregulated (P & lt; 0. 01) in MI rats compared with sham-operated rats.

PLB

MI

PLB

MI


Input: In conclusion, SELP and AKT1 polymorphisms may play a role in the risk of cachexia and death in PDAC patients, and should be further evaluated in larger prospective studies.

SELP

cachexia


Input: Here we report an infant with the characteristic phenotypic features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c. 1909 + 18G & gt; A; p. (Y637Cfs * 23) and c. 2617C & gt; T; p. (R873 *).

Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome


Input: However, in multivariate analyses, SHBG levels varied significantly with rs1799941 and rs727428 genotype after controlling for body mass index, non-SHBG-bound testosterone, and homeostasis model for insulin resistance.

SHBG

insulin resistance


Input: The D allele of the insertion/deletion (I/D) polymorphism of the angiotensin I-converting enzyme (ACE) gene is associated with higher plasma and tissue ACE levels, which enhance the stimulus for neo-intimal hyperplasia.

ACE

intimal hyperplasia


Input: These results reveal that CFTR in keratinocytes plays a critical role for the regulation of peripheral nerve function and pruritus sensation, and suggest that Cftr (ΔF508/ΔF508) mice may serve as a novel mouse model that represents NGF-dependent generation of pruritus.

CFTR

pruritus


Input: We have recently found that all-trans retinoic acid (ATRA) upregulates thrombomodulin (TM) and downregulates tissue factor (TF) expression in acute myelogenous leukemia (AML) M3 cells (NB4) and acute monoblastic leukemia cells (U937) (Koyama et al, Blood 84: 3001, 1994).

tissue factor

acute monoblastic leukemia


Input: Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: The suicide enzyme O6-methylguanine-DNA methyltransferase (MGMT) removes adducts from the O6-position of guanine to repair DNA damage.

MGMT

suicide


Input: IL-4 preferentially colocalized to the tryptase +-chymase + mast cell phenotype (MC (TC)) with MC (TC) cells comprising 93. 3% of cytokine + mast cells in symptomatic SAC (P = 0. 0017), 89. 2% in asymptomatic SAC (P = 0. 0008), and 77. 8% in normal subjects (P = 0. 0472).

SAC

asymptomatic


Input: In tolerance-acquired CA1 neurons, PLD2 immunoreactivity was upregulated as early as 12 h post-ischemia and was most prominent at 1-3 days, with expression sustained for at least 7 days, as shown by a time course of immunoblotting and measurement of the enzymatic activity of PLD.

ischemia


Input: Thyroid and/or thyroid carcinoma-specific expression of SMAP31 is studied using Northern blot and reverse transcriptase-polymerase chain reaction (RT-PCR) on a multiple tissue panel.

carcinoma


Input: We identified 2 nonsense mutations in the CHS1 gene, the first mutation analysis published of an African-American child with Chediak-Higashi Syndrome.

Chediak-Higashi Syndrome

Chediak-Higashi Syndrome


Input: We conclude that immunohistochemical positivity for c-erbB-2 is an indicator of aggressiveness in both adenocarcinoma and adenocarcinoma in pleomorphic adenoma of the major salivary glands.

aggressiveness


Input: Although HGF has been described as an isolated finding, it can occur as part of a syndrome, including infrequent endocrine abnormalities such as growth hormone insufficiency.

HGF

abnormalities


Input: We identified duplications/triplications of a 210, 050 & #160; bp segment containing BHLHA9 in 29 SHFM patients, 11 SHFLD patients, two GWC patients, and 22 clinically normal relatives from 27 of the 51 families examined, as well as in 2 of 1, 000 Japanese controls.

GWC

GWC


Input: Extracellular calcium (Ca2 + o) and its receptor, the Ca2 +-sensing receptor (CaSR), play an important role in prostate physiology, and it has been shown that the deregulation of Ca2 + homeostasis and the overexpression of CaSR are involved in prostate cancer (PCa).

prostate cancer


Input: In conclusion, our study demonstrates that TRPM8 activation by menthol benefits vascular function and blood pressure by inhibiting calcium signaling-mediated RhoA/Rho kinase activation in the vasculature.

Rho kinase

blood pressure


Input: The uroporphyrinogen III synthase activity of the propositus was decreased to 26% of the control while his asymptomatic family members had activities between 53-65% of the control.

uroporphyrinogen III synthase

asymptomatic


Input: Disseminated peritoneal leiomyomatosis (DPL) is a rare condition characterized by scattered smooth muscle nodules over the peritoneal surfaces.

DPL

leiomyomatosis


Input: Thus, this study did not provide evidence for the contribution of the mGluR4 gene to schizophrenia in the Japanese.

schizophrenia

schizophrenia


Input: To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1).

RDS

multifocal pattern dystrophy simulating Stargardt disease

RDS

multifocal pattern dystrophy simulating Stargardt disease


Input: Ki-67 expression correlated with inflammation (P = 0. 003) and was expressed in more reactive and atypical lesions than p16 (INK4a) (P = 0. 008).

inflammation


Input: Studies eligible for this meta-analysis were searched in the PubMed, Embase, and CNKI by using the keywords " tumor necrosis factor ", " TNF ", " 252A > G ", " rs909253 ", " polymorphism ", " polymorphisms ", " variant ", " SNP ", combined with " migraine " or " migraine with aura (MA) " or " migraine without aura (MO) ".

tumor necrosis factor

aura


Input: Ablation of tumor necrosis factor receptor type I (p55) alters oxygen-induced lung injury.

tumor necrosis factor receptor type I

lung injury

tumor necrosis factor receptor type I

lung injury


Input: At day 6, animals treated with PAI-1R showed significant reductions in proteinuria (48%, P < 0. 02), glomerular staining for periodic acid-Schiff positive material (33%, P < 0. 02), collagen I (28%, P < 0. 01), collagen III (34%, P < 0. 01), fibronectin (48%, P < 0. 01), and laminin (41%, P < 0. 01), and in collagen I (P < 0. 01) and fibronectin mRNA levels (P < 0. 02).

PAI

proteinuria


Input: We found that sequestration of miR-21, either before or after hypoxia exposure, diminished chronic hypoxia-induced PH and attenuated hypoxia-induced pulmonary vascular remodeling, likely through relieving the suppressed expression of miR-21 targets in the lungs of hypoxia-exposed mice.

hypoxia


Input: The aim of this study was to evaluate the relationship of NAT2 genetic polymorphisms and the susceptibility to alcoholic liver cirrhosis (ALC) in Chinese, with special emphasis on the interaction of smoking.

smoking


Input: Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms.

FSH receptor

infertile


Input: We used methylated CpG island amplification microarrays (MCAMs) to study 6458 CpG islands in HCC and adjacent preneoplastic tissues [chronic hepatitis (CH) or liver cirrhosis (LC)] in comparison with normal liver tissues where neither viral infection nor hepatitis has existed.

HCC

chronic hepatitis


Input: The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms.

PSF

translocation


Input: These data point towards the role of MEK1 and JNK inhibitors, in contrast to the PI3K-protein kinase B inhibitors, as potential therapeutic tools for pharmaceutical intervention to diminish hepatic damage by reducing the inflammatory response mediated by IL-1β associated with liver failure.

liver failure


Input: Conversely, IRAK-4-dependent human TLRs appear to play a redundant role in protective immunity to most infections, at most limited to childhood immunity to some pyogenic bacteria.

IRAK

infections


Input: We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset < 50 years of age).

sporadic


Input: We aimed to evaluate the possible association among FADS genotypes, desaturase activity, inflammation, and coronary artery disease (CAD).

FADS

inflammation


Input: These results suggest that vinpocetine exerts anti-atherogenic effects through inhibition of monocyte adhesion, oxidative stress and inflammatory response, which are mediated by Akt/NF-κB dependent pathway but independent of PDE1 blockade in macrophages.

NF-κB

adhesion


Input: Furthermore, the catalepsy induced by CCK-8-SE was of short duration. With icv. administration only 40 pmole CCK-8-NS induced significant catalepsy. When 0. 2, 0. 4 and 0. 8 mumole/kg sc. doses of CCK-8-NS or 0. 4 pmole icv. dose of CCK-8-SE or CCK-8-NS was given in combination with intraperitoneal (ip.) administration of 1. 0 mg/kg haloperidol, the total duration of catalepsy was suppressed. Finally, CCK-8-SE sc. when given in combination with haloperidol ip., exerted a biphasic, synergistic-antagonistic effect on the haloperidol-induced catalepsy.

CCK

catalepsy

CCK

catalepsy


Input: Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.

pancreatic cancer

pancreatic cancer


Input: In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.

NF-L

major depression

NF-L

major depression


Input: Patients affected by some of these diseases (AADC deficiency, cystathionuria, homocystinuria, gyrate atrophy, primary hyperoxaluria type 1, xanthurenic aciduria, X-linked sideroblastic anaemia) can benefit, although at different degrees, from the administration of pyridoxine, a PLP precursor.

PLP

xanthurenic aciduria


Input: The genetic susceptibility of people with certain NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene variants to inflammatory bowel disease is still under investigation.

bowel disease


Input: We found about 80% of highly proliferating DNA aneuploid tumors in the EGF-R positive category, while the EGF-R negative tumors showed a lower frequency of highly proliferating DNA aneuploid tumors (57%), confirming the important role of EGF-R in breast cancer aggressiveness and progression.

EGF

aggressiveness


Input: Suppression of the genes adenosine triphosphate citrate lyase, acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase 1, or sterol regulatory element-binding protein 1, which are involved in lipogenesis, reduced proliferation, and survival of HCC cell lines and AKT-dependent cell proliferation.

sterol regulatory element-binding protein 1

HCC

sterol regulatory element-binding protein 1

HCC


Input: We detected independent DSTYK mutations in 2. 3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling.

DSTYK

congenital abnormalities


Input: Based on our previous findings, we have postulated that glutamate-dependent dysregulation of mTOR-initiated protein synthesis in the PFC may underlie the pathology of MDD.

mTOR

MDD

mTOR

MDD


Input: Regular aerobic exercise reduced weight by 2. 3 +/-2. 2 kg in MIF and 3. 2 +/-3. 0 kg in HIF.

MIF

weight


Input: Moreover, the susceptibility gene for bipolar disorder, PPP2R2C, was found to be associated with the number of perineuronal oligodendrocytes.

bipolar disorder

bipolar disorder


Input: Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) have been implicated in tumorigenesis of gliomas.

tumorigenesis


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

translocation


Input: We have reported differences between fibroblasts cultured from normal scars and keloids that include a pattern of glucocorticoid resistance and altered regulation of genes in several signaling pathways associated with fibrosis, including Wnt and IGF/IGF-binding protein 5 (IGFBP5).

keloids


Input: Autism (MIM #209850) and schizophrenia (MIM #181500) are both neurodevelopmental psychiatric disorders characterized by a highly genetic component.

MIM

schizophrenia


Input: In mice with pressure overload due to ascending aortic constriction, BMP7 significantly reduced RASAL1 promoter methylation, increased RASAL1 expression, and decreased EndMT markers as well as decreased cardiac fibrosis.

constriction


Input: Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

PHARC

PHARC


Input: In the few studies directly comparing p53 mutations in BRCA1-linked and sporadic ovarian cancers, data have been contradictory.

sporadic


Input: In the colitis-associated colon cancer (CAC) model, we induced colonic tumors in C57/BL6 mice by azoxymethane and dextran sulfate sodium administration, and evaluated simvastatin' s effect on tumor growth.

CAC

colon cancer


Input: To investigate the role of SIGIRR in vivo, zymosan-induced arthritis (ZIA) and collagen antibody-induced arthritis (CAIA) were induced in SIGIRR-knockout mice.

SIGIRR

arthritis


Input: The goal of this study was to improve diagnostic efficiency in the detection of tumor progression in lung cancer patients by using fuzzy logic modeling in combination with a tumor marker panel (Tumor M2-PK, CYFRA 21-1, CEA, NSE and SCC).

NSE

tumor progression


Input: However, expression and mutation status of NORE1 and its implication in colorectal tumorigenesis has not been evaluated.

tumorigenesis


Input: Activity (transcription) of the genes for MLH1, MSH2 and p53 in sporadic colorectal tumours with micro-satellite instability.

sporadic


Input: Endothelial nitric oxide synthase stimulates aneurysm growth in aged mice.

Endothelial nitric oxide synthase

aneurysm


Input: Previous studies using animal models of ARF reported that inflammation-induced macrophage recruitment in endothelial cells, along with I/R-induced production of inflammatory cytokines and chemokines in tubule epithelial cells, results in macrophage and neutrophil accumulation, and that both ultimately lead to irreversible kidney injury.

ARF

inflammation


Input: Some cases of corticotropin-independent macronodular adrenal hyperplasia appear to be genetic, most often with inactivating mutations of ARMC5, a putative tumor-suppressor gene.

corticotropin-independent macronodular adrenal hyperplasia

corticotropin-independent macronodular adrenal hyperplasia


Input: We have examined whether saturated nonesterified fatty acids (NEFA) and insulin, which increase in concentration with developing insulin resistance, can trigger the production of interleukin (IL)-6 and tumor necrosis factor (TNF)-α in human monocytes.

NEFA

insulin resistance


Input: DNA was extracted from peripheral blood mononuclear cells (PBMCs) of patients with acute-on-chronic liver hepatitis B-induced liver failure, chronic hepatitis B (CHB) and normal controls, followed by sodium-bisulfite treatment and methylation-specific PCR (MSP) analysis.

MSP

liver failure, chronic


Input: Additionally, functional analysis supported a tumor-suppressive function for PER3 and IGFALS in vitro.

IGFALS

tumor


Input: The first aim of this study was to confirm a role for three miRNAs (let-7a, hsa-miR-126, and hsa-miR-145) in the inhibition of proliferation in non-small cell lung cancer (NSCLC) cells.

non-small cell lung cancer

non-small cell lung cancer


Input: Pet-1 (-/-) animals had a significantly reduced Vo (2) at all T (b); thus there was no genotype effect on total hypoxia.

hypoxia


Input: Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing.

GATM

AGAT deficiency

GATM

AGAT deficiency


Input: Tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK), a TNF superfamily member, induces damage of the epithelial cells (ECs) and production of inflammatory mediaters through its receptor Fn14 in a model of acute colitis.

TWEAK

acute colitis


Input: Severe retinal pigment epithelium and choriocapillaris atrophy developed by 6 years of age, paralleled by a lesser ERG decline.

ERG

choriocapillaris atrophy


Input: The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t (12; 22) chromosome translocation, encodes a constitutive transcriptional activator.

EWS

chromosome translocation


Input: Based on our clinical experience with MEN 1 patients/families we formulated clinical criteria to identify disease gene carriers among patients with apparently sporadic MEN 1-related tumours.

MEN 1

MEN 1

MEN 1

MEN 1


Input: These results suggest that the HPS4 gene confers a susceptibility to schizophrenia.

schizophrenia

schizophrenia


Input: ETs also increase HIF-1alpha expression under both normoxic and hypoxic conditions and its silencing by siRNA desensitizes COX-2 transcriptional activity, PGE (2) and VEGF production, and MMP activation in response to ET-3, implicating, for the first time, HIF-1alpha/COX as downstream targets of ET (B) R signaling leading to invasiveness.

COX

hypoxic


Input: t (8; 22) (p11; q11) is a rare but recurrent chromosome translocation that has been reported in 11 cases of myeloproliferative neoplasm or B-acute lymphoblastic leukemia.

myeloproliferative neoplasm


Input: In addition, we analyzed five patients with BFPP who did not show GPR56 mutation and found that they define a clinically, radiographically, and genetically distinct syndrome that we termed BFPP2.

BFPP

BFPP


Input: We genotyped patients and controls for the HCRTR2 G1246A polymorphism and examined an association with presence or absence of migraine.

migraine


Input: These results suggest that simvastatin could be a potential chemopreventive and therapeutic agent of CAC as well as de novo colon cancer.

CAC

colon cancer


Input: It has been widely reported that interleukin-8 (IL-8) is overexpressed in ovarian cyst fluid, ascites, serum, and tumor tissue from ovarian cancer (OVCA) patients, and elevated IL-8 expression correlates with a poor final outcome and chemosensitivity.

ascites


Input: This was not replicates in the extended sample, we conclude that JARID2 could be a susceptibility gene for SZ.

SZ

SZ


Input: A mutational screening of PRRT2 was performed in 5 families, and in 7 sporadic cases affected by BIE.

sporadic


Input: We also conclude that blocking & #945; 7nAchR reduces the phosphorylation of STAT3, increases the expression of TNF-& #945; and IL-6, aggravating viral myocarditis.

myocarditis

myocarditis


Input: Log-binomial regression was used to estimate the risk ratios (RRs) of eczema associated with FLG variants at different methylation levels.

FLG

regression


Input: Increased nuclear accumulation of total XBP-1 protein was observed in steatosis and NASH livers.

steatosis

steatosis


Input: The same 47-gene set was screened in nerve biopsies, which corroborated the down-regulation of CCL2 and CCL3 in leprosy, but also evidenced the down-regulation of genes involved in mitochondrial metabolism, and the up-regulation of genes involved in lipid metabolism and ubiquitination.

leprosy


Input: KIR-3DL2 + CD4 + T cells in patients with ankylosing spondylitis were oligoclonal and enriched for markers of T cell activation and for the gut homing receptor CCR9.

ankylosing spondylitis


Input: Using both adenovirus-polylysine-DNA complexes and E1A/B-deleted replication-deficient adenoviruses, we have demonstrated a transductional preference of these vectors for the prostate carcinoma cell lines DU 145, LNCaP, and PC-3 over primary human bone marrow cells and the leukemia cell line KG-1.

adenovirus


Input: Chemosensitivity and outcome of BRCA1-and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients.

sporadic


Input: This study evaluates the effect of IL-4 on the severity of methacholine-induced AHR associated with mycoplasma pulmonary mycoplasma infection.

AHR

mycoplasma infection


Input: On the other hand, the gastric and/or duodenal ulcer control patients and the viral hepatitis cirrhotic patients showed similar allele frequencies for the polymorphic ADH2 and ADH3 genes.

duodenal ulcer


Input: Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with CODAS syndrome.

CODAS syndrome

CODAS syndrome


Input: In Apolipoprotein E (-/-) mice fed on a high fat diet, IL-33 treatment significantly reduced the accumulation of macrophage-derived foam cells in atherosclerotic plaques.

Apolipoprotein E

foam cells


Input: The HLA-B57 allele family is associated with slow progression to disease in HIV-1-infected individuals and restricts a potent CD8 response against the p24 protein.

slow progression


Input: The accumulation of toxic amyloid-beta (Aβ) peptide aggregates in AD brain is thought to trigger the extensive synaptic loss and neurodegeneration linked to cognitive decline, an idea that underlies the' amyloid hypothesis' of AD etiology in both the familal (FAD) and sporadic forms of the disease.

FAD

sporadic


Input: The WISE sample comprised 589 white and 122 black women who underwent angiography for suspected ischemia.

WISE

ischemia


Input: Since endothelial dysfunction is critical for atherosclerosis, we investigated the effects of TZDs, troglitazone (TRO) and pioglitazone (PIO), on endothelial cell growth and secretion of C-type natriuretic peptide (CNP), which we demonstrated as a novel endothelium-derived relaxing peptide, and endothelin (ET), a potent vasoconstrictor, using HAoECs, HCAECs, HUVECs and BAECs.

TRO

atherosclerosis


Input: Recently, the role of oncogenic K-ras in leukemogenesis was investigated in a novel mouse model utilizing interferon (IFN)-inducible, Cre-mediated expression of oncogenic K-ras from its endogenous promoter.

IFN

leukemogenesis


Input: Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum.

loricrin

ichthyosis


Input: We identified a homozygous missense variant p. (Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity.

Steel syndrome

Steel syndrome


Input: Myc inactivation or pharmacological suppression of ER stress alleviates fatty liver caused by SIRT7 deficiency.

fatty liver

fatty liver


Input: Here we studied the role of spinal mGluR5 and mGluR1 in controlling glutamatergic input in a rat model of painful diabetic neuropathy induced by streptozotocin.

painful diabetic neuropathy

painful diabetic neuropathy


Input: We investigated the gamma-aminobutyric acid A (GABA (A)) delta receptor subunit gene, GABRD, as a susceptibility gene to childhood-onset mood disorders (COMD) because of substantial evidence implicating GABAergic dysfunction in mood disorders and the position of this gene near the 1p36 linkage region.

GABRD

mood disorders

GABRD

mood disorders


Input: A population-based (245 cases and 222 controls) and family-based (159 hereditary prostate cancer families) association study was performed to test the hypothesis that sequence variants of hOGG1 increase susceptibility to prostate cancer.

hereditary prostate cancer


Input: Six potentially functional variants, including C-590T in the IL4 gene, C-1055T and Arg130Gln in the IL13 gene, and Ile50Val, Ser478Pro, and Gln551Arg in the IL4RA gene, have been evaluated for their involvement in the control of total serum IgE levels and related atopic disorders, but the results of these studies have been inconsistent.

IL13 gene

atopic


Input: Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita.

X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita


Input: Serum levels of miR-122 were correlated to the serum activated partial thromboplastin time (APTT) ratios (R = 0. 426, p = 0. 008) and the fibrinogen (FIB; R = 0. 398, p = 0. 008) and antithrombin III (R = 0. 913, p < 0. 001) levels.

antithrombin III

fibrinogen


Input: Approximately 85% of Ewing sarcomas harbor the EWS/FLI fusion protein, which arises from a chromosomal translocation, t (11: 22) (q24: q12).

EWS

chromosomal translocation


Input: A marked induction of cPLA2 was observed in activated microglia and astrocytes in the CA1 hippocampal region at 72 hours after ischemia.

ischemia


Input: Increasing adiposity and insulin resistance may interact to raise CRP levels.

CRP

insulin resistance


Input: Inheritence of a NOS2 single-nucleotide polymorphism rs2297518 is associated with increased risk of recurrent aphthous stomatitis in a Jordanian population.

recurrent aphthous stomatitis


Input: A total of 280 HCV-infected patients (70 with mild fibrosis, 70 with advanced fibrosis, 70 cirrhotic patients and 70 HCC patients) and 100 healthy controls were included.

HCC

fibrosis


Input: The aim of this study was to determine if CFTR function is abnormal in patients with pancreas divisum and recurrent acute pancreatitis (PD/RAP).

RAP

recurrent acute pancreatitis


Input: We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.

PORCN

mild


Input: These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY.

sex reversal


Input: ADAMTS18, located at 16q23. 1, has been reported to be a critical TSG in multiple primary tumors; however, this has not yet been verified in clear cell renal cell carcinoma (ccRCC).

TSG

clear cell renal cell carcinoma


Input: Compared to those with benign lung disease and healthy controls, Pin1 mRNA was overexpressed in patients with non-small-cell lung cancer, and the levels correlated with lymph node-positive disease and tumor stage.

lung disease


Input: Knockdown of Nup62 produced a greater reduction of the growth and viability of C4-2 cells than of non-neoplastic RWPE-1 prostatic cells.

non-neoplastic


Input: The differences between FHP and FHN groups on correlations between DBH and peak intoxication or usual drinking history raise speculations that the " normal " (FHN) relationship between alcohol intake and plasma DBH activity may be impaired in individuals at high risk (FHP) for the future development of alcoholism.

DBH

alcohol intake


Input: We have examined the effects of hypoxia, or more precisely hypoxemia, on the fetal hypothalamic-pituitary-adrenal (HPA) axis and lungs using molecular biology techniques in order to elucidate the underlying mechanisms.

HPA

hypoxia


Input: In contrast, both selective estrogen receptor modulators (SERMs) significantly modulated circulating IGF-I/IGFBP-3 ratio, cholesterol, fibrinogen and antithrombin III.

antithrombin III

fibrinogen


Input: The H syndrome is caused by mutations in the nucleoside transporter hENT3.

H syndrome

H syndrome


Input: Recent studies have shown that nuclear accumulation of ATN1 and cleaved fragments with expanded polyQ is the pathological process underlying neurodegeneration in dentatorubral-pallidoluysian atrophy.

neurodegeneration


Input: Logistic regression with adjustment for age, gender, body mass index, smoking and stress showed no significant difference in terms of IL-6-572 genotypes (P = 0. 058, OR = 0. 523, 95% CI: 0. 268-1. 022).

smoking


Input: The purpose of this study was to examine: 1) the association between the expression of the insulin receptor (INSR), insulin receptor substrate 1 (IRS1) and 2 (IRS2), insulin inducible gene 1 (INSIG1) and 2 (INSIG2), Ras-related associated with diabetes (RRAD), and brain-specific angiogenesis inhibitor 1-associated protein 2 (BAIAP2) genes in glioma cells and 2) the function of the endoplasmic reticulum stress signaling, mediated by endoplasmic reticulum to nuclei-1 (ERN1) and regulation of these gene expressions by hypoxia and glucose or glutamine deprivation.

hypoxia


Input: Decreasing expression of SHBG may participate in regulation of insulin signaling, leading to a concomitant decrease in expression of relevant insulin signaling components in placental tissue, implying insulin resistance and eventual development of GDM.

SHBG

insulin resistance


Input: We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3' HS1 (+ 179 C > T) mutation may have functional consequences in gamma-globin genes expression.

beta-thalassemia


Input: The most prominent feature of systemic sclerosis (SSc) and other diseases associated with fibrosis is the prolonged activation of fibroblasts not eliminated by apoptosis, hence characterized by accumulation of more extra cellular matrix (ECM).

ECM

fibrosis


Input: Our results confirm the hypothesis that NAT2 gene polymorphisms (rs1041983 C/T, rs1801280 T/C, and rs1799930 G/A) in association with long-period active smoking could be the possible individual risk-predicting factors for breast cancer development in the population of Slovak women.

NAT2 gene

smoking


Input: To report two Japanese patients who were clinically diagnosed with late-onset and sporadic lattice corneal dystrophy (LCD) in whom a Leu527Arg mutation in the TGFBI gene was found.

TGFBI gene

sporadic


Input: To determine whether p53 inactivation plays a role in paraganglioma tumorigenesis, we investigated a series of 43 paragangliomas from 41 patients (of whom 24 patients harbored a germline SDHD mutation) for mutations in p53 exons 5-8 by PCR-SSCP.

SDHD

tumorigenesis