Input: Interindividual heterogeneity in the hypoxic regulation of VEGF: significance for the development of the coronary artery collateral circulation.

VEGF

hypoxic


Input: However, areas of little inflammation which were characterized by severe fibrosis also revealed high levels of CTGF mRNA.

CTGF

inflammation


Input: Gene cloning and DNA analysis showed that the condition is a new type of beta 0-thalassemia caused by a nonsense mutation (GAG----TAG) in codon 90 of the beta-globin gene.

TAG

thalassemia


Input: The apoAI mRNA level was statistically significantly correlated to the placental weight, fetal birth weight, IGF-I and IGF-IR mRNA levels.

IGF

birth weight


Input: Thus changes in K2P mRNA levels occurred during inflammation and for 4 K2P channels were associated with spontaneous pain behaviour (SFL).

SFL

inflammation


Input: Therefore, the intense expression of MnSOD in the mitochondria of mesothelioma cells does not appear be associated with any major chromosomal alterations or the polymorphism of MnSOD gene.

MnSOD

mesothelioma

MnSOD

mesothelioma


Input: Most likely the thyroid defect of the two homozygous SLC26A4 gene mutation carriers represents a kind of secondary thyroid atrophy, rather than a primary defect of thyroid development in the sense of thyroid agenesis.

thyroid agenesis

thyroid agenesis


Input: The results indicate that there exists possible interrelation between TH and TPH gene expression and epigenetic histone acetylation in CUS-induced depressive rats, which at least partly contributes to the etiology of depression.

TH

depression

TH

depression


Input: This study was aimed at evaluating the combined effect of DIO2 T92A and PPARgamma2 P12A polymorphisms on insulin resistance-related features in 590 non-diabetic whites.

insulin resistance


Input: All of the results presented here suggest that genomic instability, the MMR system, and hyper-methylation of the H19 DMR1 may be correlated with the occurrence of NTDs.

genomic instability


Input: Peripartum cardiomyopathy: analysis of clinical outcome, left ventricular function, plasma levels of cytokines and Fas/APO-1.

cardiomyopathy

cardiomyopathy


Input: The location of several alcohol dehydrogenase genes in a cluster on chromosome 4 lends further support to ADH genes being candidates for this disorder, because recently a form of autosomal-dominant parkinsonism has been mapped to this area.

ADH

parkinsonism


Input: Expression of the bcl-2 proto-oncogene on chromosome 18 is deregulated by the 14; 18 chromosomal translocation, an abnormality that is consistently associated with follicular non-Hodgkin' s lymphomas (NHL).

chromosomal translocation


Input: The aim of this study was to investigate the effects of L-arginine (L-Arg) on neurological function, histopathology, and expression of hypoxia-inducible factor-1 alpha (HIF-1alpha) following spinal cord ischemia in rats, and the interaction between therapy with the nitric oxide donor L-Arg and up-regulation of the expression of HIF-1alpha.

spinal cord ischemia


Input: These data indicate a loss of catalase activity in most hepatitis livers but also peroxisomal proliferation and shape modifications.

catalase

hepatitis

catalase

hepatitis


Input: Patients with normal ventricles or evidence of infarction in the distant past had no detectable levels of either VEGF mRNA or HIF-1alpha mRNA.

VEGF

infarction


Input: Following intramuscular or intravenous injection with the pcDNA-KLK1 vector, systolic pressure of SHR was significantly decreased, which lasted for 20 d to two months depending on dose, route and/or time of injection.

systolic pressure


Input: Several ADCNM features were present in RW-DNM2 mice: fiber atrophy, nuclear mislocalization, and altered mitochondrial staining, with a corresponding reduction in specific maximal muscle force.

atrophy


Input: To investigate the spectrum and mechanism of Ngb' s neuroprotective action, we studied the effect of transgenic overexpression of Ngb on NMDA and beta-amyloid (Abeta) toxicity in murine cortical neuron cultures in vitro and on the phenotype of Alzheimer' s disease (AD) transgenic (APP (Sw, Ind)) mice.

Ngb' s

amyloid


Input: The promoter activity of the VEGF gene, which contains five SP-1 binding sites and one AP-1 binding site but not hypoxia regulatory elements, was enhanced by bFGF or TNF-alpha but not by hypoxia.

VEGF

hypoxia


Input: Our findings suggested that CFL1 and N-WASP may play an important role in the tumorigenesis of ESCC, and to be the candidate novel biomarkers for the diagnosis and prognosis of ESCC.

tumorigenesis


Input: Functional evaluations of edema and pain behavior, histology, and HIF-1alpha, iNOS, and MMP3 immunohistochemistry were performed before, after the first injection, three injections, and on the follow-up injection of the treatments.

edema


Input: The natural dietary compound pterostilbene has an anti-proliferative effect and induces apoptosis in breast cancer cells in & #160; vitro via Bax activation and overexpression, resulting in increased MnSOD, Smac/DIABLO, and cytochrome C activity and cytosolic Ca (2 +) overload.

Bax

breast cancer

Bax

breast cancer


Input: The disease is also associated with growth retardation, congenital malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a.

growth retardation


Input: By affecting EMT and MET processes, microRNAs are involved in the regulation of stem cell pluripotency and the control of tumor progression.

EMT

tumor progression


Input: We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans.


Input: We here performed a genome-wide association study (GWAS) of 178 KD patients to identify the genetic loci that influence 10 important KD laboratory markers: WBC count, neutrophil count, platelet count, CRP, ESR, hemoglobin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), albumin, and total protein.

AST

hemoglobin


Input: In patients treated with an angiotensin receptor blocker, expression of CD14 and CD68 in carotid plaque and serum levels of inflammatory markers were lower than in untreated patients.

plaque


Input: Global ischemia was induced in 3-and 18-month-old male Sprague-Dawley rats and CA1 and CA3 hippocampal areas, dentate gyrus and cerebral cortex of sham-operated and I/R animals were removed 48 h after insult.

ischemia


Input: Nicotine induces the up-regulation of the α7-nicotinic receptor (α7-nAChR) in human squamous cell lung cancer cells via the Sp1/GATA protein pathway.

squamous cell lung cancer


Input: A rare PRSS1 mutation in a Turkish family with hereditary chronic pancreatitis.

hereditary chronic pancreatitis

hereditary chronic pancreatitis


Input: Our study objective was to investigate the association between atopy and two described di-allelic polymorphisms in the TNF locus: a G to A transition at position-308 in the 5'-promoter region of the TNFA gene (TNFA * 1 and TNFA * 2 alleles) and an Ncol restriction fragment length polymorphism (RFLP) in the first intron of the TNFB gene (TNFB * 1 and TNFB * 2 alleles).

TNFA

atopy


Input: A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

hereditary gingival fibromatosis

hereditary gingival fibromatosis


Input: Genotype tagSNPs in the AKT1 and AKTIP in LOD patients and controls.

LOD

LOD


Input: To determine whether FABP5 is essential for EGFR-induced mammary tumor growth, we interbred FABP5-null mice with MMTV-ErbB2/HER2 oncomice, which spontaneously develop mammary tumors.

mammary tumor


Input: This work identifies a new aberrant role for the epigenetic regulator BAZ2A, which can also serve as a useful marker for metastatic potential in prostate cancer.

prostate cancer

prostate cancer


Input: Promoter methylation of each of these genes occurred in approximately 30% of bladder cancers, and both RASSF1A and PRSS3 promoter methylation were associated with advanced tumor stage (P & lt; 0. 001 and P & lt; 0. 04, respectively).

bladder cancers

bladder cancers


Input: Alterations of c-myc, N-myc, and c-fos were detected in osteosarcomas and giant cell tumors.

N-myc

giant cell tumors


Input: Heritability of the severity of diabetic retinopathy: the FIND-Eye study.

FIND

diabetic retinopathy


Input: Mice submitted to unilateral ureteral ligation (UUO) demonstrated an increase in macrophage infiltration with collagen deposition after 7 d. Conversely, TLR2, TLR4 and MyD88 knockout (KO) mice had an improved renal function together with diminished T (H) 2 cytokine production and decreased fibrosis formation.

fibrosis


Input: Similarly, TGF-beta cell expression was significantly increased in the infarct area of the immunized rats in comparison to the control group (22. 6 +/-5. 1 and 7 +/-2. 1 per 100 mononuclear inflammatory cells, respectively; P =. 01).

TGF-beta

infarct


Input: Most Fbw7 substrates are strongly associated with tumorigenesis and Fbw7 can either suppress or promote tumor development in mouse models.

tumorigenesis


Input: Constitutive and intense expression of pS2 was revealed by Western blot analyses and immunohistochemistry in human colorectal tumors and their adjacent control mucosa during the neoplastic progression, from the adenoma to the liver metastases.

neoplastic progression


Input: The Del/Ins polymorphism in the 3' UTR of LEPR was associated with body weight.

LEPR

body weight


Input: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A.

JP

JP


Input: Here we report for the first time that downregulation of the Wnt inhibitory factor 1 (WIF1) is a widespread event in salivary gland carcinoma ex-pleomorphic adenoma (CaExPA).

salivary gland carcinoma


Input: The 22285 C-22375-22375 del (Cd) haplotype of CAV1 gene was associated with low levels of blood pressure in the general population.

CAV1 gene

blood pressure


Input: Variations at the LEPR locus could be involved in the regulation of body weight.

LEPR

body weight


Input: Collagen-induced arthritis (CIA) is an experimental animal model of human rheumatoid arthritis being characterized by synovitis and progressive destruction of cartilage and bone.

CIA

synovitis


Input: In summary, these results not only indicate that RKTG has an in vivo tumor suppressor function to cooperate with p53 in tumorigenesis but also suggest that p53 has an EMT checkpoint function and the loss of this function can combine with loss of RKTG to drive EMT and tumor progression.

EMT

tumor progression


Input: Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal.

metatropic dysplasia

metatropic dysplasia


Input: In the absence of TLR4 signalling the infected host instead develops an asymptomatic carrier state.

asymptomatic


Input: To determine the prevalence of GB virus-C (GBV-C) RNA and TT virus (TTV) DNA in patients with systemic sclerosis (SSc), rheumatoid arthritis (RA), and osteoarthritis (OA) as well as to compare the autoantibody pattern in patients with SSc with and without evidence of viral infection.

TTV

viral infection


Input: IL-4 is also involved in lipid metabolism by inhibiting lipid accumulation in fat tissues, which lead to decreased weight gain and fat mass.

weight gain


Input: Compared with normoxia, an ischemia reperfusion insult increased expressions of proinflammatory cytokines, γH2AX, and GADD153 in association with increased cell death.

ischemia


Input: This family was found to be completely linked to markers mapped to 16q24. 3 and thereby proposed to be allelic to the distichiasis-lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here.

MIM

facial dysmorphism


Input: ERG, AR and NKX3-1 protein expression was detected in a minority of prostatic small cell carcinoma cases (23, 27 and 18%, respectively), while these markers were positive in the majority of concurrent acinar carcinoma cases (66, 83 and 83%, respectively).

acinar carcinoma


Input: It was suggested that PST could be a promising melanoma tumor-targeting nanovector, and have a good potential in clinical application.

PST

melanoma


Input: Most females with MECP2 mutations fulfil the established clinical criteria for Rett syndrome, but single cases of asymptomatic carriers have been described.

asymptomatic


Input: Outcomes of cardiovascular procedures, such as angioplasty and stent or bypass grafting are limited by failure, predominantly caused by pathological smooth muscle cell (SMC) proliferation, known as intimal hyperplasia.

SMC

intimal hyperplasia


Input: When GSTO genotype was analysed in association with smoking or professional exposure to ultraviolet irradiation, carriers of at least one mutant GSTO2 * Asp allele had increased risk of cataract development in comparison with individuals with wild-type GSTO2 * Asn/Asn with no history of smoking or ultraviolet exposure (odds ratio = 6. 89, 95% confidence interval = 1. 81-16. 21, P = 0. 005; odds ratio = 4. 10, 95% confidence interval = 1. 23-13. 74, P = 0. 022, respectively).

smoking


Input: Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS).

CBS

parkinsonism


Input: An scl gene product lacking the transactivation domain induces bony abnormalities and cooperates with LMO1 to generate T-cell malignancies in transgenic mice.

abnormalities


Input: Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

mosaic variegated aneuploidy syndrome

mosaic variegated aneuploidy syndrome


Input: The direct intratracheal instillation of PGD2 enhanced the eosinophilic inflammation in OVA-exposed animals, whereas pretreatment with a dual antagonist against the PGD2 receptor-(CRTH2) and the thromboxane A2 receptor, but not with a thromboxane A2 receptor-specific antagonist, nearly completely eliminated the dsRNA-induced worsening of airway inflammation and bronchial hyperresponsiveness.

thromboxane A2 receptor

inflammation


Input: Characterization of the 415G & gt; A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

carbohydrate-deficient glycoprotein syndrome type Ia

carbohydrate-deficient glycoprotein syndrome type Ia


Input: Current treatment options for severe asthma are inadequate and therapeutic antibody-mediated depletion of CRTh2-expressing cells represents a promising new therapeutic strategy.

asthma

asthma


Input: Moreover, the deterioration of both systolic and diastolic functions, in conjunction with thin left ventricular remodeling at 7 days after myocardial infarction, was prevented by endothelial nitric oxide synthase.

endothelial nitric oxide synthase

left ventricular remodeling


Input: Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Phosphomannomutase 2

Polycystic Kidney Disease

Phosphomannomutase 2

Polycystic Kidney Disease


Input: ], S100A12, and S100B) expression was investigated by immunostaining of 99 paraffin-embedded biopsies of sarcoid tissues, and expression patterns were determined.

sarcoid


Input: Receptor-mediated endocytosis of tissue-type plasminogen activator by low density lipoprotein receptor-related protein on human hepatoma HepG2 cells.

lipoprotein receptor-related protein

hepatoma


Input: In 140 patients with primary squamous cell carcinoma (SCC) of the tongue, intratumoural TS expression was evaluated by immunohistochemistry.

TS

squamous cell carcinoma

TS

squamous cell carcinoma


Input: Curcumin also blocked hypoxia-stimulated angiogenesis in vitro and down-regulated HIF-1alpha and VEGF expression in vascular endothelial cells.

VEGF

hypoxia


Input: This study examined telomere biology in heart/muscle-specific manganese superoxide dismutase-deficient mice (H/M-SOD2 (-/-)), which develop progressive congestive heart failure and exhibit pathology typical of dilated cardiomyopathy.

congestive heart failure

congestive heart failure


Input: In this study, 1, 424 patients with HBV-related liver diseases not treated with antiviral drugs, including 197 asymptomatic HBV carriers, 769 chronic hepatitis B patients, 145 acute-on-chronic liver failure (ACLF) patients, 187 HBV-related liver cirrhosis patients, and 126 HBV-related HCC patients, were selected to investigate the distribution and clinical significance of spontaneous YMDD mutations in liver diseases at different stages.

HCC

liver diseases


Input: A peptide of SPARC interferes with the interaction between caspase8 and Bcl2 to resensitize chemoresistant tumors and enhance their regression in vivo.

SPARC

regression


Input: If hypoxia continued for 2 more wk after L-NIL treatment was discontinued, PAP was still lower than in untreated hypoxic controls.

PAP

hypoxic


Input: SNPs in CD1A and CD1E were not associated with GBS susceptibility, specific clinical subgroups, anti-ganglioside antibodies, antecedent infections and prognosis.

infections


Input: Role of beta3-adrenoceptors for intrahepatic resistance and portal hypertension in liver cirrhosis.

portal hypertension


Input: These results reinforce the importance of molecular genetic analysis for VP diagnosis and especially the usefulness of prokaryotic expression of missense mutations to assess their deleterious effect on PPOX activity. MM and BXG contributed equally to the publication. RES and MVR share senior authorship.

PPOX

VP

PPOX

VP


Input: Disruption of both FANCC and Ku70 suppresses sensitivity to cross-linking agents, diminishes chromosome breaks, and reverses defective homologous recombination.

chromosome breaks


Input: To determine whether macrophage migration inhibitory factor (MIF) and monocyte chemoattractant protein-1 (MCP-1) levels in patients with hepatitis B (HB) are different than in normal individuals and whether the HB surface antigen (HBs Ag) level and viral load are correlated with each other and with the two aforementioned parameters.

viral load


Input: Functional role of Calcium-stimulated adenylyl cyclase 8 in adaptations to psychological stressors in the mouse: implications for mood disorders.

adenylyl cyclase 8

mood disorders

adenylyl cyclase 8

mood disorders


Input: For rectal tumors, a combination of the 3 most stable genes (GUSB, ACTB, and RPLPO) was suitable for qRT-PCR, whereas for colon tumors, a combination of the 4 most stable genes (GAPDH, ACTB, GUSB, and RPLPO) was optimal for qRT-PCR.

ACTB

rectal tumors


Input: For the cohort of genetic generalised epilepsy, we noted a single signal at 2p16. 1 (p = 9 · 99 × 10 (-9)), implicating VRK2 or FANCL.

generalised epilepsy


Input: When levels of the four isoforms in the tumor cells were compared to levels in the normal cells, no increase was observed in PKC-alpha or PKC-gamma, but PKC-epsilon was elevated three to 30 times in six of the eight tumors, and PKC-zeta was elevated approximately two times in all of the tumors.

PKC-gamma

tumors


Input: In summary, missense mutations within the exons of the androgen receptor gene encoding the steroid-binding domain of the receptor are common causes of both partial and complete forms of androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: Individuals being homozygous for the T allele of rs11669332 (an Akt2 promoter) showed lower systolic blood pressure (p = 0. 04), total/HDL cholesterol ratio (p = 0. 02) and the metabolic syndrome score (p = 0. 04), while carriers of the A allele of rs969531 (in 5'-UTR) showed higher systolic blood pressure (p = 0. 027).

systolic blood pressure


Input: Seven ADCA (SCA1, 2, 3, 6, 7, 17, and dentatorubro-pallido-luysian atrophy) are caused by repeat expansions in the corresponding proteins; phenotype-genotype correlations have shown that repeat size influences the progression of the disease, its severity and clinical differences among patients, including the phenomenon of anticipation between generations.

ADCA

atrophy


Input: Here, we report a case of t-ALL with t (11; 19) (q23; p13. 3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer.

breast cancer


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

NF--L

schizophrenia

NF--L

schizophrenia


Input: Newborn rat pups were randomly exposed to normoxia or hyperoxia at 90% FiO2 and injected intraperitoneally with placebo or Mesd every other day for 14 d. On day 15, phosphorylation of LRP5/6 (pLRP5/6), expression of Wnt/β-catenin target genes, cyclin D1 and Wnt-induced signaling protein-1 (WISP-1), right-ventricular systolic pressure (RVSP), right-ventricular hypertrophy (RVH), pulmonary vascular remodeling, alveolarization, and vascularization were measured.

vascular remodeling


Input: Successful imaging of experimental brain tumors with this system is demonstrated in nude rats bearing cerebral implants of human U87 glioma.

glioma


Input: The purpose of this study was to compare the important and relevant features of two most commonly used PC cell lines, LNCaP and PC3, with prostatic adenocarcinoma and SCNC.

prostatic adenocarcinoma


Input: In NMI bladder cancer cell lines, FGFR3 expression was induced by hypoxia in a transcriptional and HIF-1α-dependent manner.

hypoxia


Input: Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

renal-hepatic-pancreatic dysplasia

renal-hepatic-pancreatic dysplasia


Input: The whole heart weight, the left ventricular weight, the abnormal myocardial architecture, and TUNEL-positive apoptotic cells, as well as the activity of cardiac Fas-dependent and mitochondrial-dependent apoptotic pathway, were significantly increased in obese group or nocturnal sustained hypoxia group and were further increased when obesity and nocturnal sustained hypoxia coexisted, the evidence for which is based on decreases in an anti-apoptotic protein Bcl2 level and Bid and increases in Fas, FADD, pro-apoptotic Bad, BNIP3, cytosolic cytochrome c, activated caspase-8, activated caspase-9, and activated caspase-3.

weight


Input: PRDM5 methylation was frequently detected by methylation-specific PCR (MSP) in multiple primary tumors, including 93% (43/46) nasopharyngeal, 58% (25/43) esophageal, 88% (37/42) gastric and 63% (29/46) hepatocellular tumors.

MSP

esophageal


Input: Further prospective studies should be recommended to confirm the observed association, and underlying mechanism should be investigated to clarify the association of FTO gene polymorphism with overweight/obesity.

FTO gene

overweight


Input: Homozygosity for mutations in ABC transporter A1 (ABCA1) causes Tangier disease, a rare HDL-deficiency syndrome.

Tangier disease

Tangier disease


Input: We asked whether chorioamnionitis-associated antenatal inflammation would regulate TGF-beta1, the TGF-beta1 signaling pathway, and CTGF in preterm lamb lungs.

CTGF

inflammation


Input: Solution hybridization RNAase protection assays showed that renal IGF-1 mRNA, IGF-1 receptor (IGF-1R) mRNA, and IGF-binding protein-1 (IGFBP-1) mRNA were unaffected by exogenous IGF-1, but this treatment significantly increased renal IGF-1 in ARF rats compared with normal rats and ARF rats not receiving IGF-1.

ARF

ARF


Input: A novel mutation of KIT gene results in piebaldism in a Chinese family.

KIT

piebaldism

KIT

piebaldism


Input: The consequent overexpression of Igf2 results in most of the symptoms of Beckwith-Wiedemann syndrome, including prenatal overgrowth, polyhydramnios, fetal and neonatal lethality, disproportionate organ overgrowth including tongue enlargement, and skeletal abnormalities.

polyhydramnios

polyhydramnios


Input: We used RT-QPCR and Western blots to quantify expression of HM74A and HM74 receptors in brain tissue obtained postmortem from patients with schizophrenia (N = 12) or bipolar disorder (N = 14) and from normal controls (N = 14).

bipolar disorder

bipolar disorder


Input: Hypoxia-inducible factor 1 (HIF-1) is a transcriptional activator of vascular endothelial growth factor (VEGF) and is critical for initiating early cellular responses to hypoxia.

VEGF

hypoxia


Input: Our experiments suggest that PHB/DNAJC19 membrane domains regulate cardiolipin remodeling by tafazzin and explain similar clinical symptoms in two inherited cardiomyopathies by an impaired cardiolipin metabolism in mitochondrial membranes.

PHB

cardiomyopathies


Input: We recently showed that VEGF promoter activity is inversely correlated with tumor extracellular pH (pH (o)) in vivo in the human glioma (U87 MG) xenografts.

glioma


Input: MMR-deficient CRC lesions show high-level microsatellite instability (MSI-H) and accumulate numerous mutations located at coding microsatellite loci that lead to the generation of immunogenic neopeptides.

MMR

microsatellite instability


Input: Cardiac beta 1-adrenergic receptor density was decreased while its dissociation constant (Kd) was not altered in the viable tissue of the left ventricle of the CHF rat, which is consistent with beta-adrenergic receptor downregulation.

beta-adrenergic receptor

dissociation


Input: In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p & lt; 2 & #160; & #215; & #160; 10 (-5)) in the meta-analysis.

alcohol dependence

alcohol dependence


Input: Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

lowe oculocerebrorenal syndrome

lowe oculocerebrorenal syndrome


Input: A Thr92Ala polymorphism in the gene encoding D2 (DIO2) has been reported to associate with insulin resistance.

insulin resistance


Input: Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.

lipoprotein lipase

familial chylomicronemia

lipoprotein lipase

familial chylomicronemia


Input: Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

episodic ataxia

episodic ataxia


Input: In protocol 2, ACE genotypes as well as microalbuminuria and renal hemodynamic parameters were investigated in 75 patients with EH with normal renal function and a strong family history of hypertension.

ACE

microalbuminuria


Input: We have analyzed the ARs of two unrelated patients with this category (termed' receptor-positive type') of AIS.

AR

AIS

AR

AIS


Input: COX-2 and mPGES-1 remained elevated during the late phase, and PGE (2) continued to further increase through 24 h. The cytosolic PGE (2) synthase (cPGES) showed a small transient increase during the early phase, whereas mPGES-2 expression was not affected by inflammation.

cPGES

inflammation


Input: Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e. g., MBP, MOBP, and MOG).

MOG

alcoholism

MOG

alcoholism


Input: Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).

VIT

breast cancer


Input: To the best of our knowledge, hypoxia-and VEGF-induced pathological angiogenesis in promoting tumor dissemination, invasion, and metastasis has not been described perviously at the single cell level.

VEGF

hypoxia


Input: Among the cytochrome P450s (CYPs) involved in ATRA metabolism, the ATRA-inducible cytochrome P450 26A1 (CYP26A1) is particularly active although the molecular mechanisms involved in its regulation are not well defined in the target leukemia cells.

leukemia


Input: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported.

translocation


Input: We found that Wwox KO mice suffered from severe metabolic defect (s) resulting in growth retardation and all mice died by 3 wk of age.

Wwox

growth retardation


Input: Our data, for the first time, reports dysregulation of GR, MR, FKBP5, and PTGES3 in ASD and suggest a possible role of inflammation in altered GR function in ASD.

inflammation


Input: Since the heritability factor underlying drug dependence is shared between different drugs of abuse, we here examine the association between single nucleotide polymorphisms (SNPs) and haplotypes in the GHRL and GHSR, and amphetamine dependence.

GHSR

amphetamine dependence


Input: In response to external stress cues and cellular mechanisms to inhibit further growth, AEG-1/MTDH/LYRIC activates pathways that bypass cell checkpoints and potentiates signals to enhance survival and tumorigenesis.

LYRIC

tumorigenesis


Input: In 276 stroke cases, depression was diagnosed using DSM-IV, and classified into major PSD (N = 29), all (major plus minor) PSD (N = 77), and control (N = 199) groups.

PSD

stroke


Input: Computed tomography and magnetic resonance imaging (MRI) were used to examine three male siblings with nephrogenic diabetes insipidus (NDI).

MRI

nephrogenic diabetes insipidus


Input: Taken together, these results show that IL-10 is a key cytokine for inducing the expression of LIFR and IL-11R and possibly another uncharacterized OM coreceptor on myeloma cells and that OM and IL-10 might be produced by myeloma cells.

LIFR

myeloma


Input: Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome.

Jeune syndrome

Jeune syndrome


Input: Thus, FISH analysis with probes containing the D9S126 or p16 locus could be used as molecular markers to assay sputum samples for premalignant cells exfoliated from the bronchial epithelium.

FISH

premalignant


Input: Thirty caucasian patients suffering from classic erosive rheumatoid arthritis (RA), with a condition persisting for more than 8 years, were examined together with 67 healthy control subjects with regard to associations to HLA-DR and HLA-B-CREG antigens (B5-, B8-, B12-, B16-and B27-CREG).

rheumatoid arthritis


Input: Using the STAM NASH-HCC mouse model, we find that HGF-induced FRA1 activation is associated with the fibrosis-dependent development of HCC.

fibrosis


Input: Along with skeletal findings, HPP patients may present with hypercalcemia, seizures, pseudotumor cerebri, and pulmonary insufficiency.

HPP

pseudotumor cerebri


Input: Collectively, our results not only uncover a novel mechanism underlying LMP1-mediated Cdc42 activation, namely LMP1 interaction with FGD4, but also functionally link FGD4 to NPC tumorigenesis.

tumorigenesis


Input: Astrocyte elevated gene-1 (AEG-1) is associated with tumorigenesis and progression in diverse human cancers.

tumorigenesis


Input: High levels of dietary soy decrease mammary tumor latency and increase incidence in MTB-IGFIR transgenic mice.

MTB

mammary tumor


Input: In summary, our results indicate that the neuroprotective role of UCP2 in neurodegeneration is disease-specific and that, while a mild uncoupling by UCP2 in brain mitochondria may protect against neurodegeneration in some injury paradigms, the mitochondrial damage and the disease caused by mutant SOD1 cannot be ameliorated by UCP2 overexpression.

mild


Input: RUNX2 increased endogenous TAZ translocation to the nucleus, which was prevented by inhibiting RUNX2.

TAZ

translocation


Input: Multivariate regression analysis showed that the left ventricular mass index calculated by M-mode echocardiography was associated with serum creatinine (p = 0. 040), male gender (p = 0. 027), antihypertensive drug treatment (p = 0. 026), weight gain between hemodialysis (p = 0. 018) and mean blood pressure after hemodialysis (p = 0. 010), but not with ACE I/D genotype (p = 0. 69).

ACE

mean blood pressure


Input: TAR-DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene on chromosome 1p36. 22, has been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS), SOD1-negative familial ALS (FALS) and frontotemporal lobar dementia (FTLD).

DNA-binding protein

amyotrophic lateral sclerosis


Input: We collected blood samples from 109 patients with bronchial asthma, with or without attacks, and measured serum eosinophil cationic protein levels, pulmonary function, and serum CRP levels using an hs-CRP assay.

CRP

pulmonary function


Input: Mutation in MYH7B causes a classical LVNC phenotype, whereas mutation in ITGA7 causes CFTD.

CFTD

CFTD


Input: We observed an association of INT4 polymorphism with paucibacillary type of leprosy (p = 0. 032, 1df, OR = 2. 975, CI = 1. 057-8. 373), but not to multibacillary type (p = 0. 173, 1df, OR = 2. 248, CI = 0. 682-7. 404).

leprosy


Input: The aims of this study were to determine the feasibility of detecting and isolating circulating tumor cells (CTCs) in HCC patients using enrichment for epithelial cell adhesion molecule (EpCAM) expression, to examine their prognostic value, and to explore CTC-based DNA sequencing in metastatic HCC patients compared to a control cohort with non-malignant liver diseases (NMLD).

HCC

liver diseases


Input: The cDNA for human Ec-SOD was incorporated into a replication-deficient adenovirus (Ad5/CMV/Ec-SOD).

Ec-SOD

adenovirus


Input: Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes.

alcohol consumption


Input: To clarify which gene alteration, chromosome aberration, or point mutation preferentially occurs in radiation-associated adult-onset papillary thyroid cancer, we have performed molecular analyses on RET/PTC rearrangements and BRAF (V600E) mutation in 71 papillary thyroid cancer cases among atomic bomb survivors (including 21 cases not exposed to atomic bomb radiation), in relation to radiation dose as well as time elapsed since atomic bomb radiation exposure.

BRAF

chromosome aberration


Input: Since the disease is frequently associated with liver insufficiency, which affects plasma levels of TAFI, we studied the role of variation in the TAFI gene in SVT.

TAFI

liver insufficiency


Input: HSP72 is rapidly expressed in response to a variety of stressors in vitro and in vivo (including hypoxia).

hypoxia


Input: Most cases of JP have dystonia with parkinsonism, which is the main symptom of HPD.

HPD

parkinsonism


Input: The patients with myositis and cutaneous vasculitis simultaneously showed lower levels of CCR5 and CX3CR1, and CCR5 expression was negatively correlated with the scores of SLEDAI in SLE cases accompanied by photosensitivity (r = 0. 426, t =-2. 155, P < 0. 05).

cutaneous vasculitis


Input: The results further suggest that the NPS and OAG phenotypes in the families studied result from mutations in a single gene, LMX1B.

NPS

NPS


Input: There was increased expression of adhesion receptors (CD11c, CD29, CD36, CD44, CD49e, CD54), receptors involved in signal transduction and/or inflammation (CD13, CD45, CD53), and other markers (CD9, CD52, CD71, CD98, HLA Class I) on macrophages from ILD patients compared to the non-ILD group.

inflammation


Input: A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.

X-linked sideroblastic anemia

X-linked sideroblastic anemia


Input: Importantly, our results suggest a novel role for CHFR regulating chromosome segregation where decreased expression, as seen in cancer cells, contributes to genomic instability by impairing the spindle assembly checkpoint.

CHFR

genomic instability


Input: Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.

lamin A/C

Hutchinson-Gilford progeria syndrome

lamin A/C

Hutchinson-Gilford progeria syndrome


Input: After administration of secretin, the Autism Diagnostic Interview-Revised (ADI-R) score improved in 7 of the 12 children.

secretin

Autism

secretin

Autism


Input: Loss of LH-induced down-regulation of anti-Müllerian hormone receptor expression may contribute to anovulation in women with polycystic ovary syndrome.

hormone receptor

anovulation


Input: In the present study, we investigated the association between personality traits and systematic combination of functional polymorphisms in three genes that regulate the metabolism of catecholamines, namely, tyrosine hydroxylase (TH), monoamine oxidase A (MAOA), and catechol-O-methyltransferase (COMT).

COMT

personality traits


Input: Infusion of pathophysiological levels of circulating angiotensin II in rats causes cardiac myocyte necrosis, followed by fibroblast proliferation.

angiotensin II

necrosis

angiotensin II

necrosis


Input: Analyses of GATA4, NKX2. 5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

NKX2. 5

sporadic


Input: A patient with rheumatoid arthritis (RA) developed an atypical lymphoproliferative disorder (LPD) after methotrexate and cyclosporine A, which regressed after suspension of both drugs.

LPD

atypical lymphoproliferative disorder


Input: Our results suggest that changes in Cdk5 levels mediated by DeltaFosB, and resulting alterations in signalling involving D1 dopamine receptors, contribute to adaptive changes in the brain related to cocaine addiction.

cocaine addiction

cocaine addiction


Input: After controlling for age, gender, education, pack-years of smoking, alcohol drinking, body mass index, H. pylori infection, and fruit and salt intake, the adjusted odds ratio (OR) for GSTT1 and gastric cancer was 2. 50 (95% confidence interval (CI), 1. 01-6. 22).

body mass index


Input: To investigate whether caspase-8 can be used for gene therapy of gliomas, we transduced A-172 and U251 glioma cells with the caspase-8 gene via an adenoviral vector (Adv) controlled by the chicken beta-actin (CA) promoter (Advcaspase-8), and found that a similar level of caspase-8 protein induced A-172 cells to undergo necrotic cell death and U251 cells to undergo apoptotic cell death.

beta-actin

necrotic cell death


Input: For example, peripheral insulin resistance such as in chronic obesity results in increased IAPP and insulin secretion.

IAPP

insulin resistance


Input: We also found that the hypoxia-induced overexpression of VEGF, NDRG1, and HIF-1α was suppressed by digoxin in a concentration-dependent manner.

VEGF

hypoxia


Input: From a total of 109 microsatellite instability (MSI)-positive HNPCC-suspected patients, 11 showed a lack of MLH1 expression in tumor tissue and no germline mutations in the mismatch repair (MMR) genes.

MMR

microsatellite instability


Input: Treating STZ-induced diabetic animals with the RCS scavenger, pyridoxamine, blunted SERCA2a activity loss and minimized diastolic dysfunction.

RCS

diastolic dysfunction


Input: The stages of melanocytic progression are defined as atypical (dysplastic) nevus, melanoma in situ, melanoma in the radial growth phase (RGP), melanoma in the vertical growth phase (VGP), and melanoma in the metastatic growth phase (MGP).

MGP

nevus


Input: Only one split of human leukocyte antigen (HLA)-DR5, HLA-DRB1 * 1104, showed a statistically significant association with a risk of chronic iridocyclitis (chi-square value = 7. 52; p = 0. 036 adjusted; odds ratio 3. 45); HLA-DQA1 * 0501 and HLA-DQB1 * 0301, both in linkage disequilibrium with HLA-DRB1 * 1104, also were significantly associated with eye disease.

eye disease


Input: Although CORIN was detected in first trimester serum, levels did not change across gestation, nor could they predict miscarriage or FGR (other disorders of impaired placental invasion).

FGR

miscarriage


Input: The effects that IL-1 alpha, IL-1 beta, TGF-beta, TNF-alpha, and IL-6 have on hypoxia-induced Epo production may provide new insights into the signal transduction pathway by which hypoxia leads to changes in gene expression.

TGF-beta

hypoxia


Input: Moreover, we found that silibinin could inhibit the nuclear factor kappaB (NF-kappaB) p50 translocation via the up-regulation of I kappaB alpha protein, and possibly subsequently down-regulated the expression of two major EMT regulators, ZEB1 and SLUG transcription factors.

translocation


Input: Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43.

connexin 40

cardiac conduction defects


Input: Mutations of the FGFR3 gene, deletions (loss of heterozygosity) of 9p, 9q, and 17p, microsatellite instability, and elevated microsatellite instability at selected tetranucleotides were also analyzed.

FGFR3 gene

microsatellite instability


Input: Escherichia coli lipopolysaccharide (LPS), native and oxidized low-density lipoprotein (LDL; oxLDL) and high temperature to induce adhesion molecules as well as Hsp60 and Hsp70 expression in human endothelial cells (EC).

adhesion


Input: In the nodule, TPO and NIS expression was very low.

TPO

nodule


Input: HIF-1 is the central regulator of responses to hypoxia which induces the transcription of genes involved in angiogenesis (e. g., VEGF-Vascular Endothelial Growth Factor) and cellular metabolism (e. g., GLUT-1).

VEGF

hypoxia


Input: However, inhibition of PI (3) kinase or EGFR did not completely abolish induction of VEGF mRNA by hypoxia (0. 2% oxygen).

VEGF

hypoxia


Input: A series of in vitro cell efflux and plasma membrane vesicle uptake assays were undertaken to investigate whether CBZ was an ABCC2 substrate.

vesicle


Input: Our results also show that, like EGCG, the synthetic analog inhibits hypoxia-and serum starvation-induced production of VEGF mRNA in breast cancer cells.

VEGF

starvation


Input: The findings in this study confirm that mutations of exon 48 of the COL2A1 gene, that alter the normal Gly-X-Y triplet structure of the corresponding region of alpha 1 (II) chains of type II collagen, produce the spondyloepiphyseal dysplasia congenita phenotype.

spondyloepiphyseal dysplasia congenita

spondyloepiphyseal dysplasia congenita


Input: Lung inflammation, IFN-gamma: IL-4 mRNA expression ratios, airway obstruction (AO), and airway hyperreactivity (AHR) were significantly increased in mice inoculated with live RSV.

AHR

airway obstruction


Input: In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome.

EvC

EvC


Input: In tissue sections, FISH allows precise histopathologic correlation of multiple foci of normal epithelium, premalignant lesions, and carcinoma within a single specimen, including study of intratumoral heterogeneity.

FISH

premalignant


Input: We examined the correlation between chronic alcoholic pancreatitis and variants of the phase II detoxification enzymes such as Glutathione S-transferase M1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), NADPH-quinone oxidoreductase 1 (NQO1), and N-acetyl transferase (NAT2).

alcoholic pancreatitis


Input: We conclude that CDD, the most severe form of sclerotic bone disease, is part of a spectrum of disease caused by mutations in SOST.

SOST

CDD

SOST

CDD


Input: Hypermethylation of the 5' CpG island of the p21 (CIP1), p27 (KIP1), p57 (KIP2), p53, p73 and RB 1 gene promoter were found in 8. 8, 8. 8, 11. 2, 12, 25. 6 and 4. 8% of 125 cervical cancer samples from north Indian population, respectively.

cervical cancer


Input: This study also revealed the presence of six polymorphisms in Turkish DMD/BMD patients.

DMD

BMD

DMD

BMD


Input: In contrast, two GALE-variant proteins associated with peripheral epimerase deficiency, L313M-hGALE and D103G-hGALE, demonstrated near-normal levels of activity with regard to both substrates, but a third allele, G90E-hGALE, demonstrated little, if any, detectable activity, despite near-normal abundance.

GALE

epimerase deficiency

GALE

epimerase deficiency


Input: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

HYDIN

primary ciliary dyskinesia

HYDIN

primary ciliary dyskinesia


Input: The M. leprae bacterium binds to ErbB2 on the Schwann cell surface causing demyelination and favoring spread of the bacilli and causing nerve injury.

demyelination


Input: BMP4 expression is high in retinal pigment epithelium (RPE) cells in late, dry AMD patients, while BMP4 expression is low in the wet form of the disease, characterized by choroidal neovascularization (CNV).

choroidal neovascularization


Input: Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects.

MIM

facial dysmorphism


Input: Metaphase analyses showed increased aneuploidy in Nrf1 (-/-) embryonic fibroblasts.

aneuploidy


Input: Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

SLC26A4 gene

sporadic


Input: Positive Bcl-2 ICC staining and the t (14; 18) translocation were positively correlated (p < 0. 001).

translocation


Input: No association was found between either the exudative or the dry form and the polymorphisms in the Apolipoprotein E, complement factor I, FXIII and MerTK genes.

Apolipoprotein E

dry


Input: Our findings demonstrate that P-cadherin is a direct PAX3-FOXO1A transcriptional target involved in ARMS aggressiveness.

aggressiveness


Input: Recurrent distal 7q11. 23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

neurobehavioral problems


Input: Of note, the known tumor invasiveness marker cathepsin B, measured in whole-tumor homogenates, was not prognostic, in contrast to its endogenous inhibitor stefin B, which was highly significant and the only independent prognostic factor to predict meningioma relapse in multivariate analysis and reported herein for the first time.

stefin B

meningioma

stefin B

meningioma


Input: Detection of HBX complete sequences was associated with R249S in HCC with no documented prior cirrhosis but not in HCC developing in a context of cirrhosis or in non-cancer chronic liver diseases.

HCC

liver diseases


Input: TAR-DNA-binding protein 43 (TDP-43) has been identified as a major component protein of ubiquitin-positive inclusions in brains from patients with frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis.

DNA-binding protein

amyotrophic lateral sclerosis


Input: A multivariate Cox regression stepwise analysis indicated that HDAC6, 7 and 10 and SIRT3 were TFS independent predictors.

regression


Input: In vivo assessment of synergistic antitumor activity was conducted in a U87 glioma model.

glioma


Input: Quantitative analysis of NMDAR2B promoter methylation showed 61% (17/28) hypermethylation in primary gastric tumors versus 5% (1/20) in normal gastric tissues from nongastric cancer patients.

cancer


Input: We observed a low frequency of somatic alterations (relative to other carcinomas) and extended the set of known PTC driver alterations to include EIF1AX, PPM1D, and CHEK2 and diverse gene fusions.

PTC

PTC


Input: These findings require replication in other populations but suggest that the FOXP3 polymorphisms can be associated with risk of idiopathic infertility (rs2280883 and rs2232368) and endometriosis (rs3761549) in Brazilian women.

infertility


Input: Ethanol-elicited nuclear GAPDH augments TIEG2-mediated MAO B, which might play a role in brain damage in subjects with alcoholism.

GAPDH

alcoholism

GAPDH

alcoholism


Input: The finding that the expressions of DNMT1 and TET1 are increased and SZ candidate genes such as BDNF and GCortR are altered in the same direction in both the brain and PBL together with recent studies showing highly correlated patterns of DNA methylation across the brain and blood, support the hypothesis that a common epigenetic dysregulation may be operative in the brain and peripheral tissues of SZ patients.

SZ

SZ


Input: These results reveal a liver tumor suppressor role of p27 in this resistant mouse strain, and the need to further study the role of Cdk2 kinase in liver tumor promotion by p27 inactivation.

liver tumor


Input: Number of polyploid giant cancer cells and expression of EZH2 are associated with VM formation and tumor grade in human ovarian tumor.

giant


Input: Ovalbumin sensitization and challenge caused rhinitis pathology including inflammatory cell infiltration, IL-4, and protein leakage in the nasal lavage fluid (NLF) and presence of inflammatory cells in nasal epithelium.

rhinitis

rhinitis


Input: It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.

pertussis


Input: Upon reinfection, WT mice exhibited a transient local infection with evidence of regulatory T-cell (Treg)/Foxp3 mRNA and a more balanced Th1 and Th2 response in the genital tract than ICOS (-/-) mice, whereas 90% of the latter mice developed sterile immunity, poor expression of local Treg/Foxp3 mRNA, and macroscopic signs of enhanced local immunopathology.

sterile


Input: Basal gene expression by lung CD4 + T cells in chronic obstructive pulmonary disease identifies independent molecular correlates of airflow obstruction and emphysema extent.

emphysema


Input: These results revealed that there was a close relationship between the appearance of MIF expression and ED1-positive exudate macrophages in degenerated hepatocytes during the progression of TA-induced liver fibrosis.

MIF

liver fibrosis


Input: Fluorescent in situ hybridization (FISH) analysis using an AML1-ETO translocation dual probe, showed that the 21q22 breakpoint involved AML1 locus.

translocation


Input: Finally, treating the cells with pUC alone or in combination with radiation induced the translocation of the MEKK-1-p-JNK complex from cytosol to nucleus, thereby inhibiting the migration of glioma cells.

MEKK

translocation


Input: In conclusion, our research led us to the identification of miR-135b and its targets, MID1 and MTCH2, as relevant coordinators of mammary gland tumor progression.

tumor progression


Input: This study emphasises the principal role of ABCC6 mutations in the pathogenesis of PXE, but the reasons for phenotypic variability remain to be explored.

PXE

PXE


Input: Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3 (+) regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs.

CTLA4 haploinsufficiency

CTLA4 haploinsufficiency


Input: It indicates an interesting relationship between c-Jun expression and increased property of adhesion, migration and in vivo liver metastasis of MCF-7/c-Jun cells.

c-Jun

adhesion


Input: The smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism.

PTLS

PTLS


Input: The purpose of the current study is to evaluate the histologic factors that may affect the development of rubeosis iridis in eyes with retinoblastoma and to examine whether vascular endothelial growth factor (VEGF), a hypoxia-induced angiogenic factor, is produced by hypoxic retinoblastoma and retinal cells in these eyes.

VEGF

hypoxic


Input: Thus, we propose a novel theory accounting for memory impairment related to AD: Abeta-dependent inactivation of the JAK2/STAT3 axis causes memory loss through cholinergic dysfunction.

memory loss


Input: We report a patient with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa, in whom COL7A1 mutations have been identified on both alleles.

recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa


Input: The aim of this study was to screen and detect mutations of the ATP7B gene in unrelated Turkish Wilson disease patients (n & #160; = & #160; 46) and control group (n & #160; = & #160; 52).

Wilson disease

Wilson disease


Input: We performed a case-control association study between the common A/G polymorphism at position-670 in the Fas gene (TNFSRF6) promoter and sporadic AD in Jews, investigating whether this locus acts as a risk factor or whether it has a modifying effect.

Fas gene

sporadic


Input: Compared with primary cancer patients and control subjects, recurrent cancer patients showed higher serum HGF concentrations (p < 0. 05, p < 0. 01 respectively), higher HGF concentrations in PBMC supernatants (p < 0. 01 for both) and more frequent HGF mRNA expression in PBMC.

HGF

recurrent cancer


Input: The corticotropin releasing hormone binding protein gene is likely to be involved in the genetic vulnerability for major depression.

corticotropin releasing hormone binding protein

major depression

corticotropin releasing hormone binding protein

major depression


Input: We examined the antiangiogenic effect against hepatocellular carcinoma (HCC) of the copper chelator trientine, especially focusing on the relationship between copper and interleukin-8 (IL-8), a potent angiogenic factor produced by hepatoma cells.

hepatocellular carcinoma

hepatocellular carcinoma


Input: While a number of clinical and experimental observations have implicated Bmi-1 in human tumorigenesis, the role of Mel-18 in cancer cell growth has not been investigated.

tumorigenesis


Input: The allele frequencies of IL-10-592C and-819C were significantly higher in HBV-related ALF patients than in blood donors and asymptomatic HBV carriers.

asymptomatic


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

depression

depression


Input: Two associations were observed that were consistent in both Hispanics and non-Hispanic Whites: IGF1 CA repeat alleles of length other than 19 were associated with higher mean waist-to-hip ratios (WHR), P = 0. 01, and women who carried an IGFBP3 A allele, compared with women with the CC genotype, more often reported high birthweight (odds ratio, 1. 9; 95% confidence interval, 1. 1-3. 2).

birthweight


Input: The dark atrophy with indocyanine green angiography in Stargardt disease.

Stargardt disease

atrophy


Input: The recent identification of two new genes, ARTS1 and IL23R, and confirmation of IL-1A association further substantiate that ankylosing spondylitis is determined to a large extent by genes outside the major histocompatibility complex.

spondylitis


Input: We conclude that phosphohydroxylysinuria is due to mutations in the AGXT2L2 gene and the resulting lack of activity of phosphohydroxylysine phospholyase in vivo.

phosphohydroxylysinuria

phosphohydroxylysinuria


Input: To examine the FSH receptor gene for detectable abnormalities in women with premature ovarian failure.

FSH receptor

abnormalities


Input: Quantitative assessment of the bleeding symptoms by a bleeding questionnaire seems to be useful for evaluating the severity of bleeding episodes, but it can not be recommended as a screening tool for FXI deficiency.

FXI

bleeding


Input: Serum fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated haemoglobin (HbA1c), fasting serum insulin (FINS), postprandial serum insulin (PINS), triglycerol (TG), cholesterol (CHO), low-density lipoprotein cholesterol (LDL-c), high-density lipoprotein cholesterol (HDL-c), homeostasis model assessment for insulin resistance (HOMA-IR), and body mass index (BMI) were determined before and after metformin treatment.

PINS

insulin resistance


Input: The aim of this study was to evaluate the role of SOX2 in ovarian cancer tumorigenesis and paclitaxel resistance.

tumorigenesis


Input: Toluene diisocyanate (TDI)-induced airway disease is a disorder characterized by chronic airway inflammation and airway remodeling.

TDI

airway remodeling


Input: The expression of MEGF10 was also compared between healthy control subjects and schizophrenia patients using postmortem brain cDNA libraries.

schizophrenia

schizophrenia


Input: Low doses of kainic acid (5 mg/kg) that produced little or no behavioral or electroencephalogram (EEG) alterations in wild type or glial fibrillary acidic protein (GFAP)-TNF animals induced severe tonic-clonic seizures and death in GFAP-IL6 transgenic mice of 2 or 6 months of age.

tonic-clonic seizures

tonic-clonic seizures


Input: Although cultured fibroblasts from the patient did not show the expected functional abnormalities of the cobalamin-dependent enzymes, methylmalonyl-CoA mutase and methionine synthase, they did show reduced synthesis of the active cobalamin cofactors adenosylcobalamin and methylcobalamin.

methylmalonyl-CoA mutase

abnormalities


Input: Long-term treatment of KGN cells with TGFα resulted in a significant increase in cyclin D2 and a decrease in p27/Kip1, two critical regulators of granulosa cell proliferation and granulosa cell tumorigenesis.

tumorigenesis


Input: The primary GBM subtype presents acutely as a high-grade disease that typically harbours mutations in EGFR, PTEN and INK4A/ARF (also known as CDKN2A), and the secondary GBM subtype evolves from the slow progression of a low-grade disease that classically possesses PDGF and TP53 events.

slow progression


Input: ERG abnormalities have been documented in other mutations of the PAX6 gene, and we propose that the retinal pathology causing these ERG abnormalities may contribute to the photophobia experienced by patients with aniridia.

ERG

abnormalities


Input: This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis.

coronal synostosis


Input: This suggests that chronic overproduction of islet amyloid polypeptide " per se " does not cause insulin resistance.

islet amyloid polypeptide

insulin resistance


Input: Processes occurring after SAH lead to enhanced arterial contractility and ECM remodeling either directly or through angiogenesis and inflammation.

SAH

inflammation


Input: Mice lacking the MLP gene develop cardiac hypertrophy, dilated cardiopathy and heart failure.

MLP

cardiopathy


Input: These results show that SULF1 promotes histone H4 acetylation, potentiates the effects of HDAC inhibitors, and inhibits HCC tumorigenesis.

tumorigenesis


Input: In summary, cell death following integrin inhibition is detachment mediated, represents an atypical form of anoikis involving necrosis as well as autophagy, and is modulated by TGF-β pathway activity.

TGF-β

necrosis


Input: METHODS: Six EGF family peptides and a truncated EGF receptor splice variant (p110/EGFR) were examined using immunohistochemistry in the trophoblast of placentas (N = 76) from women with preeclampsia, and compared to placentas from women of similar gestational age (GA) with preterm labor (PTL) or small for gestational age (SGA) fetuses, as well as normal term placentas.

EGFR

preeclampsia


Input: These data suggest that in primary immunodeficiency-related lymphoma, LMP1 and EBNA2 are expressed and that this expression correlates with expression of CD23.

primary immunodeficiency


Input: Using epithelial RNA expression arrays, HapMap allele frequency variation, and the literature, we identified six possible candidate susceptibility genes for childhood asthma including ADCY2, DNAH5, KIF3A, PDE4B, PLAU, SPRR2B.

childhood asthma


Input: Transforming growth factor-β signaling appears to be activated in desmoid-type fibromatosis and phosphorylated SMAD2/3 and COX2 immunoreactivity might be of diagnostic utility in these tumors.

desmoid-type fibromatosis


Input: Resolution of fibrosis was impaired in macrophage fas-induced apoptosis mice but increased after overexpression of CXCL9.

fibrosis


Input: Gene coding thromboxane A2 receptor (TBXA2R), involved in chronic airway inflammation, has been associated with asthma in several genetic studies.

inflammation


Input: In this study, we analyzed four KALRN gene SNPs in 503 ischemic stroke patients and 493 control subjects, separating the patients into separate research groups based on comorbidity with hypertension or diabetes and stroke type (atherosis or lacunar and combination type).

KALRN gene

diabetes


Input: Myotonia permanens is associated with a G1306E mutation in the SCN4A gene.

Myotonia permanens

Myotonia permanens


Input: Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.

juvenile primary lateral sclerosis

juvenile primary lateral sclerosis


Input: In the present study, we have investigated the hyperinsulinaemia/hyperglycaemia-induced epigenetic changes and alteration of Fbn1 (fibrillin 1) and Col3A1 (collagen type & #160; III & #945; 1) gene expression.

hyperglycaemia

hyperglycaemia


Input: The CACNA1B variant c. 4166G > A; (p. R1389H) was recently reported as the likely causative mutation in a single 3-generation Dutch pedigree with five subjects affected by a unique dominant M-D syndrome and cardiac arrhythmias.

cardiac arrhythmias


Input: Signal transducer and activator of transcription 3 (STAT3) is activated, as determined by electrophoretic motility shift assays, by EGFR in DU145 and PC3 human prostate carcinoma cells in addition to the motility model NR6 fibroblast cell line.

prostate carcinoma


Input: We determined the expression of BSP using real-time RT-PCR and immunohistochemistry in tissue microarrays containing 15 normal brain and 270 glioma samples.

BSP

glioma


Input: Statistical analyses of 43 cases of HCC revealed that HCC scored higher than the matched non-neoplastic liver tissues.

HCC

non-neoplastic


Input: While insertions can target the gene directly, numerous clusters of retroviral insertion sites have been identified which map close to c-myb and outside the transcription unit in T-lymphomas (Ahi-1, fit-1, and Mis-2) and monocytic and myeloid leukemias (Mml1, Mml2, Mml3, and Epi-1).

myeloid leukemias


Input: FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.

FISH

short stature


Input: Interestingly, high serum level of LIPH was correlated with better survival in early phase lung cancer patients after surgery.

LIPH

lung cancer


Input: During hypoxia, HMGB1 translocates from the nucleus to the cytosol and binds to mtDNA released from damaged mitochondria.

hypoxia


Input: The subjects with OTOG mutations have a moderate hearing impairment, which can be associated with vestibular dysfunction.

OTOG

vestibular dysfunction


Input: We found evidence for association of bipolar disorder with PPARD, a gene in the Wnt signaling pathway.

PPARD

bipolar disorder

PPARD

bipolar disorder


Input: The present view of the neuroprotective functions and mechanisms of action of vascular endothelial growth factor (VEGF) is based on studies of neuronal ischemic/hypoxic models in vivo and in vitro.

VEGF

hypoxic


Input: In addition to a number of established ischemia-related genes, many genes not previously implicated in transient focal ischemia-induced brain damage [suppressor of cytokine signaling (SOCS)-3, cAMP responsive element modulator (CREM), cytosolic retinol binding protein (CRBP), silencer factor-B, survival motor neuron (SMN), interferon-gamma regulatory factor-1 (IRF-1), galanin, neurotrimin, proteasome subunit RC8, synaptosomal-associated protein (SNAP)-25 A and B, synapsin 1a, neurexin 1-beta, ras-related rab3, vesicular GABA transporter (VGAT), digoxin carrier protein, neuronal calcium sensor-1 and neurodap] were observed to be altered in the ischemic cortex.

VGAT

ischemia


Input: L-3-n-butylphthalide (L-NBP), an extract from seeds of Apium graveolens Linn (Chinese celery), has been demonstrated to have neuroprotective effects on ischemic, vascular dementia, and amyloid-beta (Abeta)-infused animal models.

NBP

amyloid


Input: Our studies indicate that the AVP and its V1b receptor system may be a potential therapeutic target for treating anxiety and depressive symptoms associated with cocaine addiction.

AVP

cocaine addiction

AVP

cocaine addiction


Input: These results suggest that HER-2/neu overexpression may be linked with overall increased tumor viability and a significant increase in the population of viable hypoxic cells, which is not due to differences in tumor vascularization.

vascularization


Input: Here, we report that the binding site of hypoxia-inducible factor 1 (HIF1) is crucial for the hypoxic induction of VEGF gene expression.

VEGF

hypoxic


Input: Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

SDHA

mitochondrial complex II deficiency

SDHA

mitochondrial complex II deficiency


Input: BACKGROUND: The aim of this study was to investigate whether focal adhesion kinase (FAK) overexpression correlates with lymph node metastases and prognosis.

FAK

lymph node metastases


Input: Molecular analysis of infarct tissue showed a four-fold increase in NOS3 expression in the MSC + Ox group compared with the MI group.

MSC

infarct


Input: Significant induction of the hypoxia-inducible angiogenic pathway involving hypoxia-inducible factor-1alpha (HIF-1alpha), HIF-2alpha, vascular endothelial growth factor (VEGF) and its angiogenic receptor VEGFR-2, as well as tumor necrosis factor-alpha (TNF-alpha) with its downstream signaling machinery promoting inflammation and cell death, were found in acute-on-chronic ischemia.

VEGF

hypoxia


Input: Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P.

tooth agenesis


Input: This study was a retrospective analysis of pooled NPI data from two double-blind, placebo-controlled, multicenter 26-week studies of metrifonate that had achieved similar levels of cholinesterase inhibition.

NPI

blind


Input: Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D.


Input: Serum chemerin in pregnancy was associated with insulin resistance and triglycerides.

chemerin

insulin resistance


Input: METHODS: We examined the AR gene CAG repeat length and measures of weight and body mass index (BMI) in 27 non-syndromic obese and 33 lean controls and for the first time compared with 28 individuals with Prader-Willi syndrome (PWS), a rare obesity-related genetic disorder with natural sex hormone deficits to examine the effects of AR gene CAG repeat length on androgen-mediated response and obesity-related factors relevant to human infertility and reproduction.

AR gene

weight


Input: Plasma VEGF at high altitude is not elevated in association with AMS or hypoxia.

VEGF

hypoxia


Input: Connective tissue growth factor (CTGF) is a downstream mediator of some of the profibrotic effects of TGF-beta1, vascular remodeling, and angiogenesis.

CTGF

vascular remodeling


Input: In addition, one case with hypertrophic cardiomyopathy and deafness presented the ND1 m. 3395A > G mutation and the tRNA (Ile) m. 4316A > G variation.

hypertrophic cardiomyopathy


Input: The TGFB1 Ex5-73C > T variant was positively associated with TGCT (CT/TT versus CC: odds ratio, 1. 73; 95% confidence interval, 1. 01-2. 95; P (trend) = 0. 05); additionally, haplotypes of the assessed TGFB1 SNPs (-509C > T, 327C > T, Ex1-282C > G, and Ex5-73C > T) differed in frequency between cases and controls (all TGCT, P 0. 07; seminoma, P 0. 04; nonseminoma, P 0. 11).

nonseminoma


Input: In conclusion, the D allele of the ACE gene is associated with microalbuminuria as well as with retinopathy and left ventricular hypertrophy, and seems to be an independent risk factor for target organ damage in essential hypertension.

ACE gene

microalbuminuria


Input: In both murine and human leukemias, p53 inactivation contributed to the selective overexpression of oncogenic miR-92a and miR-19a, and down-regulation of tumor-suppressive miR-17.

leukemias


Input: GLP-1 has a direct effect on hepatocytes, by activating genes involved in fatty acid β-oxidation and insulin sensitivity.

insulin sensitivity


Input: GH1 Promoter SNPs 6, 8 and 9 were associated with height and IGF-1 levels among patients, and SNPs 6 and 11 with height in controls.

height


Input: We studied the presence of expanded SCA 8 alleles in 10 sporadic patients with probable MSA-C. We found 1 patient with a heterozygous CTA/CTG repeat expansion in the pathological range.

CTA

sporadic


Input: In conclusion, we confirmed the association between SIRT2 gene and mood disturbances, although in AD patients.

mood disturbances

mood disturbances


Input: Involvement of Noxa in cellular apoptotic responses to interferon, double-stranded RNA, and virus infection.

Noxa

virus infection


Input: Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.

SUFUH

sporadic


Input: We report a patient with the adult form of Alexander disease who shows a novel mutation in GFAP.

GFAP

Alexander disease

GFAP

Alexander disease


Input: CCRL2-associated chemotactic molecules, chemerin, CCL19 and CCL5, were also detected in cancer tissues and CCL5 mRNA level was correlated with that of CRAM-A and IFN-γ.

CRAM-A

cancer


Input: This study determines whether and by what mechanism osthole inhibits invasion in CL1-5 human lung adenocarcinoma cells.

lung adenocarcinoma


Input: Subsequently, 45 C. difficile isolates which had been collected in 1990 from 33 patients in the same hospital following a significant increase in the number of cases of diarrhea caused by C. difficile were studied by REA, AP-PCR, and PP typing techniques.

REA

diarrhea


Input: By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations.

CN

CN


Input: DC-FISH defined BCL2/IgH fusion signals at 1p36 in addition to t (14; 18), suggesting that BCL2/IgH fusion at 1p36 was an evolutionary alteration following the primary BCL2/IgH translocation on der (18) in both cases.

translocation


Input: In addition, a fibrosarcoma line expressing high levels of both MET protein and HGF/NK2 mRNA was transfected with a ribozyme targeting MET, or with a ribozyme targeting MET and another targeting HGF.

fibrosarcoma


Input: APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

hereditary hypotrichosis simplex

hereditary hypotrichosis simplex


Input: In three separate single-dose irradiation experiments, lingual ulcers were dramatically reduced after either KGF-expressing vector.

KGF

ulcers


Input: In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCNH V270A, ERCC6 M1097V, RAD23B A249V and XPD D312N had the best ability to predict bladder cancer risk.

CCNH

smoking


Input: Together, our model suggests that disrupted cholinergic system in the brain is involved in airborne Mn-induced memory deficits and loss of HFE function could in part prevent memory loss via a potential up-regulation of anti-oxidant enzymes in the PFC.

PFC

memory loss


Input: To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).

SDHB

schwannomas


Input: The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.

mirror-image polydactyly

mirror-image polydactyly


Input: In the TGF-alpha transgenic mouse model, TGF-alpha protects against nickel-induced acute lung injury, at least in part, by attenuating the inflammatory response, reducing pulmonary edema, and preserving levels of SP-B.

SP-B

pulmonary edema


Input: Here, we report the cloning of heparanase from four Israeli species of the blind subterranean mole rat (Spalax ehrenbergi superspecies), 85% homologous to the human enzyme.

heparanase

blind


Input: In addition, reelin protein in the molecular layer of the dentate gyrus was decreased in schizophrenia, bipolar disorder, and depression at the trend level of statistical significance (P = 0. 065).

reelin

depression

reelin

depression


Input: Mounting epidemiological evidence supports a role for phosphatase and tensin homologue (PTEN)-T cell leukaemia 1 (Tcl1) signalling deregulation in hepatocarcinogenesis.

tensin

hepatocarcinogenesis


Input: Dysregulated bcl-2 expression, secondary to (14; 18) chromosomal translocation, seems to promote the development of follicular lymphomas, and recent findings of bcl-2 protein in several solid tumors suggest that it might contribute to the genesis of many other neoplasms.

chromosomal translocation


Input: To understand the role of sonic hedgehog (Shh) in normal gastric physiology and neoplastic transformation.

sonic hedgehog

neoplastic transformation


Input: Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.

NIPBL

Chromosome 5p13 duplication syndrome

NIPBL

Chromosome 5p13 duplication syndrome


Input: We find that promoter methylation accounts for half of those CD7 + cases with CEBPA dysregulating abnormalities.

CEBPA

abnormalities


Input: Circumstantial evidence suggests that the MMR defect may be involved in some lymphoid malignancies, although several allelotype analyses have concluded on the low level of microsatellite instability in acute lymphoblastic leukemias.

MMR

microsatellite instability


Input: Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.

CCA

Beals-Hecht syndrome

CCA

Beals-Hecht syndrome


Input: After initial screening using for example split signal FISH experiments (as an example for technologies to identify MLL rearrangements), genomic DNA from leukemia patients is analyzed by long-distance-inverse (LDI)-PCR.

FISH

leukemia


Input: Approximately one-fourth of diffuse large B-cell lymphomas (DLCL) carry the bcl-2 (MBR)/JH rearrangement caused by the t (14; 18) translocation.

translocation


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

chloride intracellular channel 4

hyperlipidemia


Input: MRI sensitivity was superior to that of mammography for invasive cancer (77. 4% v 35. 5%; P <. 00005), but not for ductal carcinoma in situ.

MRI

ductal carcinoma in situ


Input: Artemin expression was correlated with pain and pathomorphological changes (inflammation, perineural inflammatory cell infiltration, neural alterations and fibrosis).

Artemin

fibrosis


Input: Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.

NBAS

SOPH syndrome

NBAS

SOPH syndrome


Input: PARP inhibition prevented HDM-induced increase in overall cellularity, weight and CD4 (+) T-cell population in spleens of treated mice whereas it increased the T-regulatory cell population.

PARP

weight


Input: These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.

HCC

HCC


Input: These findings point to a potential role for 5-HT1A antagonists in treatment of cocaine abuse.

cocaine abuse

cocaine abuse


Input: A frequent subtype of CRC is defined by a deficiency in the mismatch repair (MMR) pathway, constantly found in combination with microsatellite instability (MSI), which not only contributes to the pathogenesis of a large proportion of CRC, but also controls the response to multiple drugs used to treat CRCs.

MMR

microsatellite instability


Input: We analyzed protein expression and promoter methylation of MLH1, MSH2 and MSH6 as well as microsatellite instability (MSI) and MMR gene mutations in a set of 96 low-and high-grade astrocytomas.

MMR

microsatellite instability


Input: Increased NFκB p50/p65 activity and expressions were observed in non proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR) subjects compared to type 2 diabetes mellitus without retinopathy (DNR) group.

NFκB

proliferative diabetic retinopathy


Input: The inhibition of miR‑335 increased the protein expression of PAX6, whereas the upregulation of miR‑335 suppressed its expression in human glioma U251 and U87 cells.

glioma


Input: Here we study the functional and biophysical characteristics of a PLB mutant associated with human dilated cardiomyopathy (DCM), with a deletion of arginine at position 14 (PLBR14Δ).

PLB

dilated cardiomyopathy


Input: Subsequent to PDGF-B infusion and in the course of anti-Thy1. 1-induced mesangioproliferative glomerulonephritis, relocalization of YB-1 into the cytoplasm was observed.

glomerulonephritis


Input: Addition of the Melia toosendan extract elicited a marked depigmenting effect on EDN1-stimulated pigmentation after 14 days of treatment, which was accompanied by a significant decrease in eumelanin content.

pigmentation


Input: Moreover, karyotype analysis showed that MDM4 overexpression might lead to aneuploidy or polyploidy.

polyploidy


Input: These data suggest that there is a phosphodiesterase 3A-ICER positive-feedback loop leading to myocyte apoptosis and ongoing development of heart failure after myocardial infarction.

ICER

myocardial infarction

ICER

myocardial infarction


Input: Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria.

CBS

CBS deficiency

CBS

CBS deficiency


Input: ETV6/AML1 fusion was found in nine out of 16 (56%) cases with a cytogenetically visible chromosome 12 abnormality, but also in nine out of 29 patients (31%) without a chromosome 12 abnormality or patients with failed cytogenetics (four out of 11 patients, 36%), making this the most common cytogenetic abnormality in childhood ALL.

cytogenetic abnormality


Input: Phenylketonuria in U. S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

phenylalanine hydroxylase

Phenylketonuria

phenylalanine hydroxylase

Phenylketonuria


Input: Knockdown of individual Notch receptors revealed that Notch1 and Notch2 receptors differentially contributed to GBM cell growth, with Notch2 having a predominant role.

GBM

GBM


Input: pathological grades 2/3) showed significantly lower VEGF, HIF-1 and EGFR gene expression levels than the non-responders (patients with insignificant tumour regression, i. e.

EGFR gene

regression


Input: Indeed, MALDI IMS revealed that the bioconverted metabolite leu-enkephalin-arg also correlated positively with severity of dyskinesia.

leu-enkephalin

dyskinesia

leu-enkephalin

dyskinesia


Input: The t (14; 18) chromosomal translocation, resulting in bcl-2-JH (immunoglobulin heavy chain gene joining segment) fusion gene, was detected in 7 (36. 8%) of 19 follicular small cleaved cell lymphomas and 6 (54. 5%) of 11 follicular mixed, small cleaved cell and large cell lymphomas.

chromosomal translocation


Input: Therefore, IL-28B may be useful as a tool for a novel multidisciplinary therapy against cancer, significantly potentiating innate and adaptive antitumor immune responses, especially when co-administrated with CDDP, which is currently the first choice chemotherapeutic agent against various tumors including HNSCCs.

HNSCC

HNSCC


Input: OCT ranged from normal to cystoid edema and thickening of the outer retina-choroid complex.

OCT

edema


Input: The single CD44 gene codes for a large family of cell surface proteins by alternative splicing and severe abnormalities have been observed in the patterns of its expression in many types of human tumors using both protein and RNA-based analyses.

CD44 gene

abnormalities


Input: Hb Johnstown [beta109 (G11) Val--> Leu]: A high oxygen affinity variant associated with beta0-thalassemia.

thalassemia


Input: Chemokine levels were determined by ELISA in (1) human bone marrow-derived MSCs stimulated by tumor conditioned media (Tumor CM) of breast tumor cells (MDA-MB-231 and MCF-7) at the end of MSC-to-CAF-conversion process; (2) Tumor CM-derived CAFs, patient CAFs and MSCs stimulated by TNF-α (and IL-1β).

MSC

breast tumor


Input: Consistent with a role for HIFs in liver fibrosis in cholestatic liver disease, nuclear HIF-1 & #945; protein was present in macrophages, hepatocytes, and fibroblasts in the livers from patients with primary biliary cirrhosis and primary sclerosing cholangitis.

sclerosing cholangitis

sclerosing cholangitis


Input: In infants with non-detectable electroretinogram (ERG), along with severe congenital visual dysfunction or blindness and central pigment epithelium atrophy with pigment clumping resembling scarring due to chorioretinitis, LCA due to NMNAT1 mutations should be considered.

atrophy


Input: Finally, in HGSNAT gene, we found the splicesite mutation c. 234 + 1G & gt; A that had already been reported as relatively frequent in MPS IIIC patients from countries surrounding the basin of the Mediterranean sea.

HGSNAT

MPS IIIC

HGSNAT

MPS IIIC


Input: We showed that angiogenesis and osteogenesis can be promoted by a VEGF165-GAM that is an appropriate tool to induce bone healing in atrophic nonunions.

GAM

atrophic


Input: One of the SNPs, rs8033037, in exon 15 showed a significant correlation (P = 0. 0061) with the adult height, suggesting that FBN1 is one of the' stature genes' of normal individuals.

height


Input: In HCV-infected liver, CYP2A6, CYP3A4, and CYP2B1 were overexpressed in hepatocytes with hemosiderin pigmentation.

HCV

HCV


Input: Here we show that, unlike the models mentioned above, a loss of Muc1 in MMTV-c-Neu mice (MMTV-c-Neu/Muc1 (-/-)) altered neither mammary tumor onset nor progression.

mammary tumor


Input: Subject-specific profiles of PSA and serum CLU levels during treatment were characterized using statistical modeling to compute subject-specific summary measures; these measures were analyzed for relationship to survival using proportional hazard regression.

CLU

regression


Input: The objective of this study was to assess the bone quality and metabolism and its correlation with insulin sensitivity in subjects heterozygous for a null mutation in the GHRHR.

GHRHR

insulin sensitivity


Input: In hippocampus, neurons in the CA1 region are more susceptible to ischemia-induced neuronal death than neurons in the CA3 region, and in response to transient forebrain ischemia a family of calcium-dependent receptors for alpha-latrotoxin is differentially expressed in the two regions.

ischemia


Input: Our data provide the first evidence that mer, presumably through activation by its ligand Gas6, participates in regulation of platelet function in vitro and platelet-dependent thrombosis in vivo.

thrombosis

thrombosis


Input: Our data suggest that the t (6; 14) translocation may be extremely uncommon in FL and that a deregulated expression of cyclin D3, possibly due to epigenetic mechanisms, may be involved in the pathogenesis of high-grade tumors.

cyclin D3

translocation


Input: MCHR1 antagonists might find an additional usage in the treatment of anxiety and depression disorders.

depression

depression


Input: In both cohorts, a significant interaction was observed between HLA-DRB1 * 15 and obesity, regardless of HLA-A * 02 status.

HLA-A

obesity


Input: However, VEGF was hardly induced after hypoxia in Tg mice, whereas Wt mice showed an approximate nine-fold increase.

VEGF

hypoxia


Input: These associations remained statistically significant for CpG sites in CTNNA2, KLK7, NPY2R, ZNF132 and KCNK17 in 20 non-smoking women after adjustment for tumor stage and age.

smoking


Input: The secretion of IL-6 by BMSCs was completely inhibited by 10 (-9) mol/L PACAP, which also attenuated the phosphorylation of both p42/44 and p38 mitogen-activated protein kinases (MAPK) as well as nuclear factor-kappaB (NF-kappaB) activation in response to the adhesion of multiple myeloma cells to BMSCs, whereas the inhibition of p42/44 MAPK signaling attenuated PACAP action.

PACAP

adhesion


Input: MFG-E8 augmented melanoma cell resistance to apoptosis, triggered an epithelial-to-mesenchymal transition (EMT), and stimulated invasion and immune suppression.

EMT

immune suppression


Input: Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

semaphorin 3D

Hirschsprung disease

semaphorin 3D

Hirschsprung disease


Input: Recurrent deletions, including 9p21. 3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13. 2 (ETV6), and patient-specific abnormalities were identified.

abnormalities


Input: Understanding the role of BSP and OPN in tumor progression, altered pathophysiology of bone microenvironment, and tumor metastasis to bone will likely result in development of better diagnostic approaches and therapeutic regimens for osteotropic malignant diseases.

BSP

tumor progression


Input: Inhibiting estrogen responses in breast cancer cells using a fusion protein encoding estrogen receptor-alpha and the transcriptional repressor PLZF.

PLZF

breast cancer


Input: Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

pyridoxine-dependent epilepsy

pyridoxine-dependent epilepsy


Input: Recent genetic studies demonstrate that genes encoding the beta-and gamma-subunits of ENaC, a renal cell-specific isoform of the Na +-K +-2Cl-cotransporter, and alpha3-, alpha1-, and beta2-subunits of the Na +-K + pump are localized within quantitative trait loci (QTL) for elevated blood pressure as well as for enhanced heart-to-body weight ratio, proteinuria, phosphate excretion, and stroke latency.

stroke


Input: Multiple Endocrine Neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma (MTC), pheochromocytoma (PHCH) and hyperparathyroidism (HPT).

HPT

pheochromocytoma


Input: CONCLUSIONS: CYB5A, which has a role in stearyl-CoA-desaturase activity, and RNF10, with an unknown role in weight regulating pathways, associated with adiposity and nominally increased the risk for T2D in American Indians.

weight


Input: The present study showed that, in a panel of myeloid leukaemia cell lines, basal level of SPHK1 correlated with the degree of kinase inhibition by SKI.

myeloid leukaemia


Input: Since the role of this gene in senescence is limited, we have investigated the potential role of NDRG2 in human lens epithelial cells (HLECs), a paradigm implicated in age-related cataract.

cataract

cataract


Input: The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia.

DNA-binding protein

amyotrophic lateral sclerosis


Input: This study provides evidence that MUC1 is overexpressed by hypoxia and contributes to hypoxia-driven angiogenesis.

hypoxia


Input: The diagnosis of the post-stroke dementia (PSD) was established according to DSM-IV criteria.

PSD

stroke


Input: CONCLUSIONS: Heparanase is upregulated and associated with the VEGF expression in hypoxia-induced retinal diseases.

VEGF

hypoxia


Input: Nested RT-PCR was employed to detect the mRNA expression of AFP in the peripheral blood, and PCR-ELISA was used to measure the telomerase activity of peripheral blood mononuclear cells (PBMCs) in patients with HCC, benign hepatic tumors, chronic liver diseases and healthy subjects.

HCC

liver diseases


Input: Since human hepatocellular carcinoma (HCC) cells are under oxidative stress in hypoxic conditions, we tested if CBR1 is upregulated by hypoxia inducible factor (HIF)-1α, helps tumor growth under hypoxia, and renders chemoresistance to cisplatin and doxorubicin in HCC.

hypoxia


Input: NCAN encodes neurocan, a brain-specific chondroitin sulfate proteoglycan that is thought to influence neuronal adhesion and migration.

neurocan

adhesion


Input: The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G & gt; T) in the HBG2 gene promoter.

hereditary persistence of fetal hemoglobin

hereditary persistence of fetal hemoglobin


Input: Our findings provide evidence that the massive neurodegeneration in early age of FAD patients could be a consequence of an increased vulnerability of neurons by mitochondrial abnormalities resulting in activation of different apoptotic pathways as a consequence to elevated oxidative stress levels.

FAD

mitochondrial abnormalities


Input: RT-PCR and real-time PCR was used to measure the expression of POU5F1P1 relative to the expression of HPRT1 in cell lines, prostatic carcinoma and carcinoma surrounding prostatic tissue.

carcinoma


Input: Decreased cell growth was not caused by cell death as BEL exposure did not alter nuclear morphology or increase annexin V (apoptotic cell marker) or propidium iodide (necrotic cell marker) staining after 48 h. Decreased growth correlated to a G (1)/G (0) arrest in LNCaP cells and aG (2)/M arrest in PC-3 cells.

annexin V

necrotic


Input: Whenever Amsterdam criteria are not fulfilled, the currently recommended laboratory screening strategies involve microsatellite instability testing and immunohistochemistry staining of the tumor for the major MMR proteins.

MMR

microsatellite instability


Input: We also report that breast tumors expressing LMW-E have a higher proportion of CD44 (hi)/CD24 (lo) tumor cells as compared with tumors expressing only full-length cyclin E. In order to explore how LMW-E enriches cancer stem cells in breast tumors, we conducted a protein microarray analysis that identified the histone acetyltransferase (HAT) Hbo1 as a novel cyclin E/CDK2 substrate.

HAT

breast tumors


Input: We provide evidence that approximately 27% of ERBB2-positive human breast cancer specimens display high expression of HES1, phospho-S6RP, and GLUT1.

breast cancer

breast cancer


Input: These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease. & lt;/AB

alpha-Gal A

Fabry disease

alpha-Gal A

Fabry disease


Input: Alveolar soft part sarcoma and pediatric renal cell carcinoma share a similar chromosomal abnormality, t (X; 17) (p11. 2; q25).

chromosomal abnormality


Input: Adrenomedullin (ADM) is an angiogenic factor that has also been shown to be a mitogen and a hypoxia survival factor for tumour cells.

ADM

hypoxia


Input: Differential gene expression of IL-18 and FGF-2 was validated on a subset of samples by quantitative PCR and by IHC, using an independent tissue array of 90 cores of 20 normal ovarian surface epithelia and 70 EOCs representing different grades and pathologies of ovarian disease.

ovarian disease


Input: These results demonstrate that CSE-induced ROS generation was mediated through the TLR4/MyD88/TRAF6/c-Src/NADPH oxidase pathway, in turn initiated the activation of MAPKs and NF-kappaB, and ultimately induced COX-2/PGE (2)/IL-6-dependent airway inflammation.

CSE

inflammation


Input: An underlying genetic defect was identified in 26 of 43 patients (60. 5%), the majority of which were found in the RPS19 gene (12 of 43, 27. 9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL9.

DBA

DBA


Input: In STGD1, the scotopic 15-Hz flicker ERG may reveal subtle abnormalities at different sites within the rod system that remain undetected by standard ERG techniques.

ERG

abnormalities


Input: Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene.

gliomas


Input: In a comparison of gene expression profile in unsorted bone marrow (BM) samples from patients with multiple myeloma (MM), acute leukemia, and diffuse large B-cell lymphoma infiltrating the BM, the leading myeloma distinguishing gene was GPRC5D.

acute leukemia


Input: Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins.

MMR

microsatellite instability


Input: The most frequent 12p13 translocation is the t (12; 21) (p13; q22), which recombines TEL with the AML1 gene on chromosome 21 and is frequently associated with deletion of the untranslocated TEL allele.

translocation


Input: Matriptase-2 mutations have been reported in several patients with iron-refractory iron deficiency anemia.

iron-refractory iron deficiency anemia

iron-refractory iron deficiency anemia


Input: Staining of mutant IDH1 was positive in nine neoplastic lesions (3 diffuse astrocytomas, 2 anaplastic astrocytomas, and 1 oligodendroglioma, oligoastrocytoma, anaplastic oligodendroglioma, and glioblastoma); it was negative in all ten non-neoplastic lesions.

non-neoplastic


Input: We found (i) a statistically significant increase in the frequency of the functional GSTM1 allele in high-grade pediatric astrocytomas (p < 0. 002), (ii) a significant increase in the frequency of the rare GSTP1 variant Val114/Val114 in pediatric astrocytomas (p < 0. 002), and (iii) a significant increase in the frequency of the rare GSTP1 Val114/Val114 genotype among pediatric tumors showing microsatellite instability (MSI) due to defects in mismatch repair (MMR) proteins (p = 0. 003).

MMR

microsatellite instability


Input: Fluorescence-in-situ-hybridisation (FISH) was used to determine the BCL2-and BCL6-translocation status of 102 FL and these were compared to morphological and immunohistochemical parameters.

translocation


Input: In this study, we reported the effects of disulfiram, a clinically used anti-alcoholism drug, on tumor invasion suppression, as well as its effects on the activity of MMP-2 and MMP-9 in human osteosarcoma cells (U2OS).

alcoholism

alcoholism


Input: Given the role of Wnt signalling during chondrogenesis and in maintaining the integrity of the long lived articular chondrocytes, we conclude from our results that the reduced Sfrp1 expression in STR/ort mice not only leads to an increased activation of the Wnt/β-catenin signalling early in life but also renders the articular cartilage prone to premature ageing and to the development of OA.

STR

premature ageing


Input: Neurodegeneration in mice resulting from loss of functional selenoprotein P or its receptor apolipoprotein E receptor 2.

selenoprotein P

Neurodegeneration

selenoprotein P

Neurodegeneration


Input: Genes for sonic hedgehog (SHH), TNF-receptor-associated-factor 3 (TRAF3), rhoGTP-ase-activating protein 4 (ARHGAP4), deleted in colorectal carcinoma (DCC), cadherins 12 and 13 (CDH12 and 13), teratocarcinoma-derived growth-factor-1 (TDGF1), and transforming growth-factor-beta1 (TGFB1) were underexpressed in all tumors.

DCC

teratocarcinoma


Input: Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Rapid-onset dystonia-parkinsonism

Rapid-onset dystonia-parkinsonism


Input: Because HSP20 proteins were barely detectable in HCT-116 cells (a human colorectal cancer cell line), recombinant adenovirus encoding HSP20 (Ad-HSP20) was used to induce HSP20 overexpression in HCT-116 cells.

adenovirus


Input: Overexpression of MCAK has been correlated with aggressive forms of carcinoma, resulting in poor prognosis of colorectal cancer.

MCAK

carcinoma