Input: Taken together, our experiments revealed an unexpected role for TM1/TM2 in copper-regulated trafficking of ATP7B and defined a unique class of WD mutants that are transport-competent but trafficking-defective.

WD

WD


Input: We examined genetic polymorphisms in the renin-angiotensin system (RAS) coding for angiotensin I-converting enzyme (ACE) insertion/deletion (I/D) for angiotensinogen (AGT) M235T and angiotensin II receptor type 1 (AGTR1) A1166C as predictors for the development of microalbuminuria (MA) in children with type 1 diabetes mellitus (T1DM).

ACE

microalbuminuria


Input: Left ventricular dilatation and dysfunction normally seen 4 wk after doxorubicin administration were significantly mitigated in HGF-treated mice, as were the associated cardiomyocyte atrophy/degeneration and myocardial fibrosis.

HGF

myocardial fibrosis


Input: Hypoxia is linked to epithelial-mesenchymal transition (EMT) and tumor progression in numerous carcinomas.

EMT

tumor progression


Input: Primary pulmonary MALT lymphomas show frequent and heterogeneous cytogenetic abnormalities, including aneuploidy and translocations involving API2 and MALT1 and IGH and MALT1.

aneuploidy


Input: Withdrawal symptom intensities demonstrated an inverse correlation with beta-endorphin and met-enkephalin levels, a direct linear correlation with amplitude height of the evoked potential, and blood pressure and heart rate changes.

beta-endorphin

Withdrawal symptom

beta-endorphin

Withdrawal symptom


Input: Although cell migration is a key event in inflammation, few studies have addressed the function of MC1R in this context.

inflammation


Input: Genetic variation in a region on chromosome 11 that contains the candidate genes AMBRA1, DGKZ, CHRM4 and MDK was significantly associated with SCZ in the combined sample (n = 11 & #8201; 540; P = 3. 89 & #215; 10 (-9), odds ratio (OR) = 1. 25).

MDK

SCZ

MDK

SCZ


Input: The first patient had segmental uniparental disomy of chromosome 9, carrying 2 copies of the maternal CARD9 mutated allele.

uniparental disomy


Input: Epithelial‑mesenchymal transition (EMT) is now thought to be a process that plays a fundamental role in tumor progression and metastasis.

EMT

tumor progression


Input: TGFbeta (1)-Smads signal activation is correlated with ventricular remodeling following MI.

TGFbeta

ventricular remodeling

TGFbeta

ventricular remodeling


Input: Couple E (45, XY, der (13; 14) (q10; q10)) had a sperm count within the normal range and low levels of aneuploid spermatozoa.

aneuploid


Input: Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

lipoprotein lipase

familial lipoprotein lipase deficiency

lipoprotein lipase

familial lipoprotein lipase deficiency


Input: UBE2L3 is associated with susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis in European ancestry populations, and this locus has not been investigated fully in non-European populations.

arthritis


Input: The serotoninergic system is believed to be involved in suicidal behavior and there is evidence of biological abnormalities of two serotonin receptors (HTR2A, HTR2C) and one serotonin transporter (5HTT) in suicide victims.

abnormalities


Input: This data indicate that hypoxia could trigger other factors (such as TGF-β, KRAS or RTK) bypassing SMO to activate GLI1 directly.

TGF-β

hypoxia


Input: A total of 11 missense variants of ATP7B, originally identified in WND patients, were examined for their capacity to functionally complement a yeast mutant strain in which the yeast gene ortholog, CCC2, was disrupted.

WND

WND


Input: In conclusion, Muc5ac expression is the central event in antigen-induced mucous metaplasia, and phylogenetically conserved 5' noncoding domains control its regulation.

metaplasia


Input: Bortezomib-induced " BRCAness " sensitizes multiple myeloma cells to PARP inhibitors.

PARP

multiple myeloma

PARP

multiple myeloma


Input: Homozygous inactivation of prosaposin in mice has led to the development of a number of abnormalities in the male reproductive system, including atrophy of the prostate gland and inactivation of mitogen-activated protein kinase (MAPK) and Akt in prostate epithelial cells.

prosaposin

atrophy


Input: MiR-21 is one of the important microRNAs associated with tumor progression and metastasis, but the molecular mechanisms underlying EMT and CSC phenotype during miR-21 contributes to migration and invasion of breast cancer cells remain to be elucidated.

EMT

tumor progression


Input: Neuronal apoE immunoreactivity was significantly increased in all hippocampal sectors (CA1, CA2, CA3/CA4, dentate fascia) and in the neocortex of the global ischemia group compared with controls (p < 0. 0001).

ischemia


Input: Acute laryngeal attacks were each treated with C1-INH concentrate (Berinert) at a single dose of 20 U/kg body weight.

body weight


Input: The differential diagnosis of hypercalcemia is subdivided into three broad categories: hyperproteinemia, PTH-mediated hypercalcemia, and non-PTH-mediated hypercalcemia.

PTH

hyperproteinemia


Input: This induction of IPAS was dependent on the nuclear factor-κB (NF-κB) pathway and attenuated hypoxic induction of HIF-1 target genes such as tyrosine hydroxylase (TH) and vascular endothelial growth factor (VEGF).

VEGF

hypoxic


Input: C1-INH replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of hereditary angioedema (HAE), a more common related disorder.

hereditary angioedema

hereditary angioedema


Input: Patients with MEN 2A also develop pheochromocytoma and/or hyperparathyroidism (HPT).

HPT

pheochromocytoma


Input: Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor.

orphan G protein-coupled receptor

bipolar affective disorder

orphan G protein-coupled receptor

bipolar affective disorder


Input: Inappropriate in vivo expression of TF in vascular cells has been shown to be responsible for thrombotic disorders associated with a variety of pathological conditions, including gram-negative sepsis, cancer and atherosclerosis.

TF

thrombotic

TF

thrombotic


Input: We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.

MPO

MPO deficiency

MPO

MPO deficiency


Input: Promoter-driven reporter studies showed the role of both hypoxia-inducible factor (HIF)-1alpha and-2alpha in VEGF transcription activation by hypoxia, because (a) overexpression of either protein by cotransfection with expression vectors resulted in VEGF promoter transactivation, which was abrogated by mutation in the HIF-binding site, and (b) targeted knockdown of HIF-1alpha/2alpha by RNA interference inhibited hypoxia-stimulated VEGF transcriptional activity and protein secretion.

VEGF

hypoxia


Input: The data taken together indicate that HG shifts the immune balance toward pro-inflammatory/Th1 phenotype in mesangial cells and TECs, which might initiate and/or prolong inflammation, thereby resulting in diabetic nephropathy.

diabetic nephropathy


Input: We assessed fluorescence in situ hybridization (FISH) as an alternative to Southern blot analysis for determination of N-myc gene amplification in neuroblastoma.

FISH

neuroblastoma


Input: A single case of neuroblastoma was difficult to interpret by FISH due to high background debris.

FISH

neuroblastoma


Input: Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: Clinicopathological and molecular data (expression of Cdx2, Apc, β-catenin, E-cadherin, Fhit, p53, and human epidermal growth factor receptor-2 (Her2); HER2 and TOPO2A gene copy number; PIK3CA mutations; microsatellite instability) were correlated to cancer-specific/overall survival (CSS/OS) using a Cox model.

E-cadherin

microsatellite instability


Input: Here, we describe an important role of the TrkC-associated molecular network in the process of leukemogenesis.

TrkC

leukemogenesis


Input: The Wallerian degeneration slow strain (& lt; i & gt; WldS & lt;/i & gt;) of mice is resistant to some forms of axonal degeneration because of a triplicated fusion gene encoding the first 70 amino acids of Ufd2a, a ubiquitin-chain assembly factor, that is linked to the complete coding sequence of nicotinamide mononucleotide adenylyltransferase 1 (NMAT1).

nicotinamide mononucleotide adenylyltransferase 1

Wallerian degeneration

nicotinamide mononucleotide adenylyltransferase 1

Wallerian degeneration


Input: We assessed the role of polymorphisms in the TIM family genes and ITK in atopy, eczema, and asthma.

TIM

atopy


Input: In contrast, IL10 mice with ileitis had a trend toward decreased Fgf15 serum levels compared with controls and increased expression of Asbt as a negative Fxr-target gene.

ileitis

ileitis


Input: Semiquantitative RT-PCR analysis revealed that among the three members of the MT-MMP family, mRNA expression of MT2-MMP remained unchanged and that of MT3-MMP was not observed in glomeruli during the development of nephritis.

nephritis


Input: Many mutations in POLG, the gene that encodes pol & #947;, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO).

POLG

Alpers-Huttenlocher syndrome

POLG

Alpers-Huttenlocher syndrome


Input: Ultrasonography and OCT revealed vitreous adherent to the retina, but without apparent retinal distortion or edema of the macula.

OCT

edema


Input: The effects of long-term smoking on endothelial nitric oxide synthase mRNA expression in human platelets as detected with real-time quantitative RT-PCR.

endothelial nitric oxide synthase

smoking


Input: ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.

mitochondrial trifunctional protein beta-subunit

hepatic steatosis

mitochondrial trifunctional protein beta-subunit

hepatic steatosis


Input: The coding regions and exon-intron boundaries of RINT1 were sequenced in 2024 familial breast cancer cases previously tested negative for BRCA1, BRCA2, and PALB2 mutations and 1886 population-matched cancer-free controls using HaloPlex Targeted Enrichment Assays.

familial breast cancer

familial breast cancer


Input: In order to measure the expression levels of EMT markers (Snail, Slug, Twist, E-cadherin, and integrin αVβ6) and hypoxia-related genes [Hypoxia-inducible factor-1α (HIF-1α) and vascular endothelial growth factor (VEGF)] by dexamethasone, quantitative real-time polymerase chain reaction and western blot analysis were performed.

VEGF

hypoxia


Input: Mutations in MC4R result in a distinct obesity syndrome that is inherited in a codominant manner.

obesity

obesity


Input: This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease.

alpha-Gal A

Fabry disease

alpha-Gal A

Fabry disease


Input: Consistent with this, Rbfox1 expression is down-regulated in mice and cells over-expressing FRG1 as well as in FSHD patients.

FSHD

FSHD


Input: We found that PTPA located in the integral membrane of mitochondria, and knockdown of PTPA induced cell apoptosis in HEK293 and N2a cell lines by decreasing mitochondrial membrane potential, which leads to translocation of Bax and a simultaneous release of Cyt C. In the cells with tau over-expression, PTPA knockdown inactivated PP2A to phosphorylate tau to avoid cell apoptosis which induced by PTPA knockdown.

PTPA

translocation


Input: A de novo missense mutation of the FUS gene in a " true " sporadic ALS case.

FUS gene

sporadic


Input: P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness.

aggressiveness


Input: Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Keratin 17

pachyonychia congenita type 2

Keratin 17

pachyonychia congenita type 2


Input: Mechanistically, LSD1 promotes β-catenin activation by inhibiting the expression of several suppressors of β-catenin signaling, especially Prickle1 and APC in Lgr5 (+) CICs, by directly regulating the levels of mono-and di-methylation of histone H3 lysine-4 at the promoters of these genes.

β-catenin

mono


Input: This prolonged EGFR activation resulted in extended p42/44 MAPK activation in cholangiocarcinoma cells.

cholangiocarcinoma


Input: Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma.

CCS

cutaneous leiomyosarcoma


Input: Thus, the SUR encoding gene is a plausible candidate for a primary pancreatic beta-cell defect and thus for hyperglycemia and weight gain.

SUR

weight gain


Input: Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle wasting disease caused by the absence of a muscle cytoskeletal protein, dystrophin.

cytoskeletal protein

muscle wasting


Input: The cell death was accompanied by several specific features characteristic of autophagy: presence of numerous autophagic vacuoles in the cytoplasm, development of the acidic vesicular organelles, autophagosome membrane association of microtubule-associated protein light chain 3 (LC3), and a marked increase in expression levels of two forms of LC3 protein (LC3-I and LC3-II).

autophagic vacuoles


Input: Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?

overgrowth


Input: PVTL-1 is positive for CD7, CD13, CD33, CD34, CD117, HLA-DR, and MPO, and has complex karyotypic abnormalities, 44, XX,-5q,-7,-8, add (11) (p11. 2), add (11) (q23),-16, + 21,-22, + mar1.

MPO

abnormalities


Input: There have been no reports evaluating double-stranded RNA-activated protein kinase (PKR) in thyroid carcinomas.

PKR

carcinomas


Input: Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

protein C

distal arthrogryposis


Input: DNA extracted from 20 clinical blood samples of patients with gout was used to evaluate the effectiveness of the two LAMP primer sets for the detection of HLA-B * 58: 01.

LAMP

gout


Input: The intensity of NOS2 and NOS3 gene expression observed in athlete' s heart was similar to dilated cardiomyopathy with low LV diastolic stiffness-modulus and preserved LV stroke work.

dilated cardiomyopathy


Input: We analyzed the coding sequences and exon-intron boundaries of GLIALCAM, encoding an IgG-like cell adhesion protein, in 81 individuals with Autism Spectrum Disorders, either with or without comorbid epilepsy, paroxysmal EEG and/or macrocephaly, and the PTEN gene in the subsample with macrocephaly.

GLIALCAM

epilepsy


Input: We investigated the expression and prognostic associations of seven CAC in patients with pancreatic cancer.

CAC

pancreatic cancer


Input: We detected the XPC protein in 46 (43%) of 107 pathological LADC samples.

XPC

LADC

XPC

LADC


Input: CEBPA-silenced leukemias also displayed marked hypermethylation compared with normal CD34 (+) hematopoietic cells, whereas CEBPA mutant cases showed only mild changes in DNA methylation compared with these normal progenitors.

mild


Input: In both endometrial hyperplasia and cancer, the expression of P57 (kip2) protein was low.

endometrial hyperplasia

endometrial hyperplasia


Input: Fluorescence in situ hybridization analysis demonstrated absolute specificity of YWHAE-FAM22A/B genetic rearrangement for high-grade ESS, with no fusions detected in other uterine and nonuterine mesenchymal tumors (55 tumor types, n = 827).

ESS

ESS


Input: Our findings suggested that autophagy conferred the TNF-α protection against serum starvation-mediated apoptosis of hepatocellular carcinoma cells, the mechanism involved with the activation of the TNF-α/NF-κB/FHC signaling pathway.

TNF-α

starvation


Input: In both SpakT243A/+ and Osr1T185A/+ knock-in db/db mice, which carry mutations that disrupt the signal from WNK kinases, increased phosphorylation of NCC and elevated blood pressure were completely corrected, indicating that phosphorylation of SPAK and OSR1 by WNK kinases is required for the increased activation and phosphorylation of NCC in this model.

NCC

blood pressure


Input: Recently, a gene mapped to Xq13 termed HOPA has been found to be associated with mental retardation, hypothyroidism, and depression and to function as a coactivator for the thyroid receptor.

HOPA

depression

HOPA

depression


Input: To evaluate the hormone receptor contents of Japanese FBCs, we collected a consecutive series of 250 FBCs and 2, 533 sporadic breast cancers (SBCs).

hormone receptor

sporadic


Input: p63 drives the expression of many target genes involved in cell survival, adhesion, migration and cancer.

adhesion


Input: No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia.

SDHB

polycythemia


Input: A case-control study was designed to investigate the effects of eight known risk factors [breast feeding, ABO incompatibility, premature birth, infection, cephalohematoma, asphyxia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene] and a suspicious analog [organic anion transporter 2 (OATP 2) gene] on severe hyperbilirubinemia in Taiwanese neonates.

premature birth


Input: Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.

smoking


Input: Each subject underwent an evaluation of body mass index (BMI), hirsutism, acne and menstrual cycle abnormalities as well as follicular stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, androstendione, dehydroepiandrosterone sulphate (DHEAS), sex hormone binding globulin (SHBG), fasting glucose and fasting insulin.

SHBG

hirsutism


Input: Similar hormone receptor expression in BRCA1-associated ovarian cancer and matched sporadic counterparts may be further evidence that at least a proportion of sporadic ovarian tumors and BRCA1-associated tumors develop through similar pathways.

hormone receptor

sporadic


Input: At baseline, many participants (42%) exhaled CO of < or = 10 ppm, the traditional cutoff for smoking, whereas few (3. 1%) had COT below the cutoff of < or = 14 ng/mL; thus, COT seems to be a better biomarker of smoking status in this population.

COT

smoking


Input: X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms.

DCX

sporadic


Input: Age, education, cigarette smoking amount, body mass index, GSTM1 and GSTM3 genotypes were unrelated to CYP1A2 and NAT2 activity.

body mass index


Input: Here we demonstrated that LCN2 plays a pivotal role in processes involved in atherogenesis by promoting polarization and migration of monocytic cells and development of macrophages towards foam cells.

atherogenesis


Input: Naja nigricollis CMS-9 enhances the mitochondria-mediated death pathway in adaphostin-treated human leukaemia U937 cells.

CMS

leukaemia


Input: The Trp64Arg polymorphism of the beta3-adrenergic receptor gene is associated with weight changes in obese Japanese men: a 4-year follow-up study.

weight changes


Input: Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E.

CCSK

CCSK


Input: This report also extends the previous findings of a new syndrome of only multiple PGLs, somatostatinomas, and polycythemia to multiple PHEOs.

PGLs

polycythemia


Input: CYP21A2 gene analyses were performed in 255 patients with severe 21-hydroxylase deficiency (21-OHD), 94 with mild 21-OHD, 752 parental samples, 233 clinically unaffected partners and 253 historic DNA samples.

CYP21A2 gene

mild


Input: CYP1A1 mRNA expression level was significantly higher in residents with sinus tachycardia or bradycardia than in residents with normal heart rate (1. 47 & #215; 10 (-3) (0. 87 & #215; 10 (-3), 2. 77 & #215; 10 (-3)) vs. 1. 24 & #215; 10 (-3) (0. 64 & #215; 10 (-3), 2. 31 & #215; 10 (-3)), P & lt; 0. 05).

sinus tachycardia

sinus tachycardia


Input: Complement-mediated hemolysis in PNH is explained by the deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59 on erythrocyte surfaces.

GPI

hemolysis


Input: Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4.

disorders of sex development


Input: The aim of this study was to see whether alterations of BNIP3 protein expression and somatic mutation of the BNIP3 gene are characteristics of human cancers.

BNIP3 gene

somatic mutation


Input: It is characterized by a specific chromosomal translocation, t (X; 18) (p11. 2; q11. 2), which juxtaposes the SYT gene on chromosome 18 to either the SSX1 or the SSX2 gene on chromosome X.

SSX2 gene

chromosomal translocation


Input: We found that Notch pathway components, including Jag1-2 ligands, Hes1-Hey1 targets and the intracellular domain of Notch1, were increased in hypoxia, as well as the phosphorylation levels of Erk1-2 and Akt.

hypoxia


Input: Mouse models with targeted disruption of Rai1 have recapitulated overt SMS phenotypes, including craniofacial abnormalities, obesity, and neurobehavioral anomalies.

obesity

obesity


Input: The results confirm an involvement of the tachykinins in psychiatric disorders, suggesting there is a generalized impairment of the SP system in the amygdala in mood disorders and schizophrenia rather than this being a disease-related phenomenon.

SP

schizophrenia

SP

schizophrenia


Input: Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12.

glucosuria


Input: Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene.

Fundus albipunctatus

Fundus albipunctatus


Input: Two hundred and twenty-three incident papillary thyroid cancer cases and 229 controls recruited from Saudi Arabian population were analyzed for 21 loci in 8 selected DNA repair genes by PCR-restriction fragment length polymorphism including non-homologous end joining pathway genes LIGIV (LIGlV ASP62HIS, PRO231SER, TRP46TER), XRCC4 Splice 33243301G > A and XRCC7 ILE3434THR; homologous recombination pathway genes XRCC3 ARG94HIS and THR241MET, RAD51 UTR 15452658T > C, 15455419A > G, RAD52 2259 and GLN221GLU, conserved DNA damage response gene Tp53 PRO47SER, PRO72ARG, Tp53 UTR 7178189A > C and base excision repair gene XRCC1 ARG194TRP, ARG280HIS, ARG399GLN, ARG559GLN.

papillary thyroid cancer


Input: Generation of autoreactive CD4 (+) effector T cells and defective production of regulatory CD4 (+) T cells inside thymomas contribute to the development of myasthenia gravis (MG) in > 90% of MG (+) thymomas.

myasthenia gravis


Input: On the basis of our findings, we propose selective FAP inhibition as a potential therapeutic approach to increase endogenous FGF21 activity for the treatment of obesity, type 2 diabetes, non-alcoholic steatohepatitis, and related metabolic disorders.

type 2 diabetes

type 2 diabetes


Input: We performed an association study between four candidate genes, DRD2, DRD3, DRD4 and 5-HT2A for the presence of tardive dyskinesia (TD) on 84 patients with residual schizophrenia.

residual schizophrenia


Input: Restricting the analyses to subjects who reported to have regularly smoked > 20 cigarettes per day at some point in their life, we used survival analysis methods to model the time from initiation of regular smoking to cessation (defined as quitting with abstinence lasting until enrollment) and its relation with eight polymorphisms in the aforementioned genes (five in DDC, two in DRD2 and one in SLC6A3) in 1446 participants.

smoking


Input: Competitive reverse transcription-polymerase chain reaction analysis showed that, regardless of feeding status, NPY mRNA levels were elevated in all tumor-bearing mice compared with sham-operated mice, although to a lesser degree than weight-matched pair-weight mice.

NPY

weight


Input: Prevalence of circulating CD4 + CD28null T cells is associated with early atherosclerotic damage in patients with end-stage renal disease undergoing hemodialysis.

end-stage renal disease


Input: This review summarizes studies undertaken on PTEN' s role in glucose uptake, insulin resistance, diabetes and its controversial role in GLUT (glucose transporter)-mediated glucose uptake.

GLUT

insulin resistance


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

steatosis

steatosis


Input: In sharp contrast to the effect by Ad-FDAP12, transgene expression in the liver of soluble form of extracellular domain of TREM-1 as an antagonist of DAP12 signaling, remarkably inhibited zymosan A-induced granuloma formation at all time points examined.

liver

liver


Input: We have recently shown that loss-of-function homozygous mutations of another UA transporter, GLUT9, cause a severe type of hereditary renal hypouricemia with similar complications (RHUC2).

renal hypouricemia

renal hypouricemia


Input: In this study, we showed that Abeta1-42 triggered autophagic cell death in both human glioma cell line (U87 cell) and human neuroblastoma cell line (SH-SY5Y cell).

glioma


Input: High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism.

protein kinase c-beta

autism

protein kinase c-beta

autism


Input: PER2 is implicated in attrition in weight-loss treatment and may modulate eating-behavior-related phenotypes.

weight


Input: Likewise, VEGF mRNA expression was induced 3-fold by hypoxia in EGFR-inhibited U87/T691 cells, comparable with the fold induction seen in parental U87 MG cells, although the absolute level of message under hypoxia was higher in U87 MG cells.

VEGF

hypoxia


Input: We assessed clinical history, CBG mutation analysis, plasma CBG, salivary cortisol, body mass index, waist circumference, blood pressure, and the Krupp fatigue scale.

CBG

blood pressure


Input: Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including Stargardt disease.

Stargardt disease

retinal degeneration


Input: In the past, few treatment options were available; however, several new therapies with proven efficacy have recently become available to treat and prevent HAE attacks, such as plasma-derived and recombinant C1-INHs that replace the deficient protein, bradykinin receptor antagonist (icatibant) that blocks bradykinin activity and kallikrein inhibitor (ecallantide) that prevents bradykinin release.

HAE

HAE


Input: In addition, A549 cells expressing CRK-II serine 41 phosphomimetic mutant demonstrated more aggressive behavior in wound healing and invasion assays and, on the contrary, expression of phosphodeficient CRK-II serine 41 mutant in A549 cells resulted in reduced cell motility and invasiveness.

CRK

aggressive behavior


Input: We conclude that the proteins encoded by the IL1RN and IL1B genes may be involved in susceptibility to alcoholism in Spanish men, probably through a different pathway from that involved in the regulation of the inflammatory response.

alcoholism

alcoholism


Input: AnxA1 promotes metastasis formation by enhancing TGFbeta/Smad signaling and actin reorganization, which facilitates an EMT-like switch, thereby allowing efficient cell migration and invasion of metastatic breast cancer cells.

metastasis

metastasis


Input: Recent studies suggest that paraneoplastic pemphigus (PNP) is a heterogeneous autoimmune syndrome involving several internal organs and that the pathophysiological mechanisms mediating cutaneous, mucosal, and internal lesions are not limited to autoantibodies targeting adhesion molecules.

PNP

paraneoplastic pemphigus


Input: We assessed microsatellite instability, quantified DNA methylation in repetitive long interspersed nucleotide element-1 (LINE-1) by Pyrosequencing, eight CIMP-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and eight other CpG islands (CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14, and WRN) by real-time PCR (MethyLight).

microsatellite instability


Input: B-mode carotid ultrasound was performed among 3330 healthy adults in the CVDFACT cohort study, and the genetic effects of atherosclerosis-related genes including connexin37 (GJA4), C-reactive protein (CRP), paraoxonase (PON1), adiponectin (ACDC), angiotensin-converting enzyme (ACE), beta-adrenergic receptor (ADRB1, ADRB2), antithrombin III (SERPINC1), and kinesin family member 6 (KIF6) were evaluated by a multivariate regression model, adjusting for traditional vascular risk factors.

atherosclerosis


Input: FOP has been shown to result from a point mutation (c. 617G & gt; A) in the ACVR1 gene in almost all patients reported.

FOP

FOP


Input: Dysregulation of pyramidal cell network function by the soma-and axon-targeting inhibitory neurons that contain the calcium-binding protein parvalbumin (PV) represents a core pathophysiological feature of schizophrenia.

calcium-binding protein

schizophrenia

calcium-binding protein

schizophrenia


Input: When these parameters are adjusted for differences in body size, then the initial value predicts the rate of change in body weight over the subsequent years: RMR (adjusted for FFM, fat mass, age and sex), r =-0. 39, P < 0. 001; SPA, r =-0. 35, P < 0. 005 (males); RQ (adjusted for fat mass), r = 0. 24, P < 0. 01; IS (adjusted for weight), r = 0. 34, P < 0. 0001.

SPA

weight


Input: These findings provide a molecular mechanism by which netrin-1 and its receptor Unc5b are expressed in atherosclerotic plaques and implicate hypoxia and HIF-1α-induced netrin-1/Unc5b in sustaining inflammation by inhibiting the emigration and promoting the survival of lesional macrophages.

hypoxia


Input: Human teratocarcinoma cells express functional insulin-like growth factor I receptors.

insulin-like growth factor I

teratocarcinoma


Input: Molecular testing of the FUS gene rearrangement involving chromosome 16 [at one time considered specific for low-grade fibromyxoid sarcoma (LGFMS) and its variant, LGFMS with giant collagen rosettes), may be a nonrandom abnormality in some cases of SEF. We present an example of a rare FUS-positive SEF that arose in the floor of mouth of a 56 year old male.

FUS

giant


Input: The chemokine receptor CCR3 participates in tissue remodeling during atopic skin inflammation.

atopic


Input: We have previously shown that the p53 gene plays a crucial role in the development of malformations (exencephaly, gastroschisis, polydactyly, cleft palate and dwarfism) in control and irradiated mouse embryos.

p53 gene

polydactyly


Input: Correspondingly, TRPM2 expression was also increased in substantia nigra of MPTP-induced PD mouse model and PD patients.

PD

PD


Input: Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

alanine/glyoxylate aminotransferase

primary hyperoxaluria type 1

alanine/glyoxylate aminotransferase

primary hyperoxaluria type 1


Input: Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg/II, PvuII, PstI, and SacI) and region specific probes failed to show any abnormalities of this gene complex.

CGRP

abnormalities


Input: RNA binding protein is identified as an important mediator of aberrant alternative splicing in muscle atrophy.

RNA binding protein

muscle atrophy


Input: ], hypoxia and oxidative stress [hypoxia inducible factor 1-α subunit (HIF1A) and β-site APP-cleaving enzyme-2 (BACE2)] and endothelial dysfunction [endoglin (ENG), fms-related tyrosine kinase-1 (FLT1) and vascular endothelial growth factor (VEGF)].

VEGF

hypoxia


Input: Patupilone further reduced hypoxia-induced VEGF expression and secretion but only in the A549 wildtype cell line.

VEGF

hypoxia


Input: In liver, neither the extent of phosphorylation of eIF-2 alpha nor the activity of eIF-2B was different in rats with a sterile or septic abscess compared with control.

sterile


Input: This study identified the association between type 2 diabetes risk variants in CDKAL1 and birthweight in Chinese Han individuals, and the carrier of risk allele within SRR had the trend of reduced birthweight.

SRR

birthweight


Input: MIR31 significantly suppressed the luciferase activity of mRNA combined with the LATS2 3'-UTR and consequently promoted the translocation of YAP1, a key molecule in the Hippo pathway, into the nucleus.

translocation


Input: Our study identified sporadic patients with mutations in the FUS gene.

FUS gene

sporadic


Input: A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

gastric intrinsic factor

congenital intrinsic factor deficiency

gastric intrinsic factor

congenital intrinsic factor deficiency


Input: In vitro, SKOV-3 expressed N-cadherin, Snail, and MMP-9 once either CCL21 stimulation or hypoxia induction, while hypoxia accompanied with CCL21 induction exhibited strongest upregulation of N-cadherin, Snail, and MMP-9 proteins.

hypoxia


Input: The association between plasma HIV RNA and CSF levels of HIV and beta2-microglobulin suggests that both viral load and CNS immune activation are important determinants of neurological disease.

viral load


Input: The results of immunohistochemistry analysis of human lung adenocarcinoma specimens showed that FGF-9 protein was detected in the adenocarcinoma cells but not in normal epithelium.

adenocarcinoma

adenocarcinoma


Input: Furthermore, liver-specific-human-GNMT transgenic with Gnmt-/-(Tg-GNMT/Gnmt-/-) mice were used to rule out that the phenotype was due to abnormal liver function.

Gnmt

abnormal liver function


Input: All bone marrow biopsies of JAK2 (V617F)-mutated CMML showed increased erythropoiesis, a marked myeloid and megakaryocytic hyperplasia with occasionally clustered megakaryocytes, and a mild or moderate (grade 1 or 2) fibrosis; six cases showed an increased number of dilated sinusoids and reactive lymphoid nodules.

mild


Input: VEGF is elevated in astrocytomas under normal oxygen conditions and undergoes induction in hypoxic stress.

VEGF

hypoxic


Input: These results indicate that COP1 and Trib1 act as an oncoprotein complex functioning upstream of C/EBPα, and its ligase activity is crucial for leukemogenesis.

leukemogenesis


Input: Furthermore, in xenograft experiments, intracerebral implantation of glioma cells expressing full-length CAR resulted in tumors with a significantly reduced volume compared to tumors generated by control vector-transduced U87-MG cells.

glioma


Input: We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin.

Doublecortin

XLIS

Doublecortin

XLIS


Input: For the purpose of description the name' pontine tegmental cap dysplasia' (PTCD) is proposed for the present malformation, referring to its most distinguishing feature on routine MRI.

MRI

pontine tegmental cap dysplasia


Input: This is the first report on mutation analysis of the human alpha-galactosidase A gene in Korean patients with Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Presence of anaplastic lymphoma kinase translocation in sarcomatoid carcinoma of head and neck and treatment effect of crizotinib: A case series.

anaplastic lymphoma kinase

carcinoma of head and neck


Input: Functional analysis of Tcl1 revealed its involvement in a PI3-kinase dependent Akt (PKB) pro-survival pathway through its interaction with the Akt kinase which increases Akt' s enzymatic activity and promotes translocation of Akt to the nucleus.

Akt' s

translocation


Input: 0. 7-10. 0), with two events (n = 52) an OR = 3. 8 (95% CI 1. 3-11. 5), and with three (n = 16) or four abortions (n = 6) had a combined OR = 4. 4 (95% CI 1. 2-17. 0), compared to controls, indicating that PLA2 polymorphism may be implicated in an inherited form of thrombophilia, and to early fetal loss.

thrombophilia


Input: Next, the validated qMSP was applied to an independent series of hrHPV-positive cervical scrapes of 22 women with cervical cancer, 29 with advanced CIN2/3 [i. e., women with a known preceding hrHPV infection (PHI) lasting ≥ 5 years as proxy of longer duration of lesion existence], and 19 with early CIN2/3 (i. e., PHI < 5 years).

PHI

cervical cancer


Input: Ca (2 +)-dependent activator protein for secretion 2 (CAPS2 or CADPS2) regulates dense-core vesicle (DCV) exocytosis.

vesicle


Input: Histologically, plaques were analyzed for plaque characteristics, ie, collagen, macrophage and SMC content, and intraplaque thrombus.

SMC

plaque


Input: Recent studies in LCAT deficient mouse models suggest that absence of LCAT may protect against insulin resistance, diabetes and obesity.

LCAT

insulin resistance


Input: By inter-group comparison, expression of TNF-α, IFN-γ of granulomas in the hyperplasia group was significantly higher than that of the necrosis group, while the expression of TGF-β, IL-4 of granulomas in the necrosis group was significantly higher than that of the hyperplasia group.

IFN

granulomas


Input: This is the first mutation described in a X-CGD patient with absence of a functional cytochrome b558-spectrum but with detectable gp91-phox protein and residual NADPH-oxidase activity.

X-CGD

X-CGD


Input: Although the frequency of bcl-2/IgH translocation in PBMCs from patients with chronic HCV infection is higher than that of other NHL patients, this increased translocation rate remains to be elucidated.

translocation


Input: Immunohistochemical avidin-biotin peroxidase complex method was applied to detect the expression of ATP7B in 49 cases of cardiac carcinomas, the corresponding adjacent non-neoplastic epithelium and 55 cases of distal gastric carcinomas.

non-neoplastic


Input: NAP score is readily available from most laboratories and may be diagnostically helpful in hypophosphatasia.

NAP

hypophosphatasia


Input: Our findings confirm that decreased nuclear Nrf2 plays a role in myofibroblastic differentiation and that SFN induces human pulmonary fibroblast dedifferentiation in vitro via Nrf2 activation.

dedifferentiation


Input: Similar anorectic effects were observed following acute administration of exogenous TNF-& #945; and IL-1 & #946;.

anorectic

anorectic


Input: Mutations in fused in sarcoma (FUS) in a subset of patients with amyotrophic lateral sclerosis (ALS) linked this DNA/RNA-binding protein to neurodegeneration.

RNA-binding protein

sarcoma


Input: To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.

hearing impairment


Input: Thus, ectopic p185/p190 BCR-ABL expression, such as p210 BCR-ABL, PML-RARA, or C-MYC transduction, may induce an increased chromosomal instability leading to clonal karyotypic evolution, which may mimic secondary chromosome aberrations in human Ph-positive ALL.

C-MYC

chromosome aberrations


Input: Results showed that hypothyroidism is associated with decreased GLAST and GLT-1 immunocontent.

GLAST

hypothyroidism


Input: Distribution of MLXIPL genotypes were significantly different as compared with the severity of stenosis (χ2 = 6. 34; p < 0. 05).

MLXIPL

stenosis


Input: Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e. g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.

esophageal cancer

esophageal cancer


Input: However, a protein coding transcript (ENST00000414552) of the GABA A receptor, gamma 2 (GABRG2) had lower brain expression postmortem in suicide (P = 0. 01) and evidence for association with suicide death (P = 0. 03) in a SNP that may be an eQTL in prefrontal cortex (rs424740, P = 0. 02).

suicide


Input: The group III family of metabotropic glutamate (mGlu) receptors (mGlu (4,) mGlu (7) and mGlu (8) receptors) remains the most poorly investigated of all glutamate receptors in this regard, despite early research efforts showing that they may be major players in stress-induced pathology, genetic vulnerability to the onset of depression and in the action of pharmacotherapies.

mGlu (7

depression

mGlu (7

depression


Input: The expression levels of VEGF165, Ang2 and EG-VEGF mRNA in group A were all higher than those in group C, but lower than those in group B P < 0. 05 or 0. 01.

all


Input: We also found that hypoxia-induced activation of STAT3 transactivated the VEGF promoter and increased the expression of VEGF transcripts.

VEGF

hypoxia


Input: Trichostatin A, a histone deacetylase inhibitor, activates the IGFBP-3 promoter by upregulating Sp1 activity in hepatoma cells: alteration of the Sp1/Sp3/HDAC1 multiprotein complex.

hepatoma


Input: Comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) analysis confirmed a range of neuroblastoma-associated genetic changes in the various lines, in particular, gain of regions syntenic with human 17q.

FISH

neuroblastoma


Input: Mutation screening of all coding regions and flanking intron sequences of the RP1L1 gene were performed with DNA sequencing analysis in this case with OMD.

OMD

OMD


Input: Recording from CA1 region of the hippocampus in anesthetized adult rat indicated that 6 weeks of thyroxin replacement therapy (20 microg/kg/day) fully restored LTP impaired by hypothyroidism.

hypothyroidism


Input: Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Schnyder crystalline corneal dystrophy

Schnyder crystalline corneal dystrophy


Input: Mice that lack GNMT develop fibrosis and hepatomas and have alterations in signaling pathways involved in carcinogenesis.

GNMT

fibrosis


Input: In addition, ANO1 may be a candidate target gene in esophageal tumorigenesis.

tumorigenesis


Input: The expression of DLL4 in endothelial cells was up-regulated by VEGF and basic fibroblast growth factor synergistically, and by hypoxia through hypoxia-inducible factor 1alpha.

VEGF

hypoxia


Input: In responsive cell lines, the MI-319/sorafenib combination induced the disappearance of p53 from the nucleus, the down modulation of Bcl-2 and Bcl-xL, the translocation of p53 to the mitochondria and that of AIF to the nuclei.

translocation


Input: These cases reinforce the belief that patients suffering from IRIDA have no specific geographical or ethnic distribution and are sporadic secondary to different mutations of the matriptase-2 gene.

IRIDA

IRIDA


Input: Comparative protection against rat intestinal reperfusion injury by a new inhibitor of sPLA2, COX-1 and COX-2 selective inhibitors, and an LTC4 receptor antagonist.

reperfusion injury

reperfusion injury


Input: Our study suggests that exposure to arsenic rapidly induces a multifaceted dedifferentiation program and miR-205 has potential to be used as a marker of arsenic exposure as well as a maker of early urothelial carcinoma detection.

urothelial carcinoma

urothelial carcinoma


Input: In the colon carcinoma cell line LoVo, we found that Furin is the most potent PDGF-A convertase.

PDGF-A

colon carcinoma


Input: We demonstrated that mastocytoma P815 cells expressing surface TR6 (TR6-P815) effectively augmented the T cells response in vitro and ex vivo in terms of proliferation, as well as IL-2 and IFN-gamma secretion.

mastocytoma


Input: Epithelial-mesenchymal transition (EMT) is a crucial step for the invasive and metastatic properties of malignant tumor cells during tumor progression.

EMT

tumor progression


Input: We questioned the role of methotrexate (MTX) in the transformation of MF to large cell lymphoma (LCL).

MTX

large cell lymphoma


Input: In more than 90% of the patients, nosebleeds are the first predominant symptom, therefore ENT physicians often play a key role as far as diagnosis and management of the disease are concerned.

ENT

nosebleeds


Input: Recent studies have suggested that the epithelial-to-mesenchymal transition (EMT) is necessary for tumor progression and metastases.

EMT

tumor progression


Input: Previously described differences in synaptic expression of neurotransmission-associated proteins (Dnm1, Hpca, Stx1, Syn1, Syn2, Syp, SNAP25, VAMP2 and 14-3-3 eta, gamma, and zeta) were confirmed between Adult and Aged rats, with no further dysregulation associated with cognitive impairment.

cognitive impairment


Input: GJB2 mutation was frequent in sporadic outpatients and its mutation frequency was significant higher in the prelingual group than in the postlingual group, whereas the mutation of mtDNA A1555G and SLC26A4 was very rare in Chinese sporadic outpatients with nonsyndromic sensorineural hearing loss (NSHL).

sporadic


Input: Here we present methods for investigating the role of HIF-1alpha in glioma growth in vivo and in vitro using RNA interference in U251, U87, and U373 glioma cells.

glioma


Input: The presence of germline mutations affecting the MYC-associated protein X (MAX) gene has recently been identified as one of the now 11 major genetic predisposition factors for the development of hereditary pheochromocytoma and/or paraganglioma.

MAX

pheochromocytoma

MAX

pheochromocytoma


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

hormone receptor

alcoholic cirrhosis


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

breast cancer

breast cancer


Input: VEGF messenger RNA levels are dramatically increased within a few hours of exposing different cell cultures to hypoxia and return to background when normal oxygen supply is resumed.

VEGF

hypoxia


Input: Individuals with asthma with the GSTM1 wild-type genotype had greater baseline and allergen-provoked airway neutrophilia and concentrations of myeloperoxidase than GSTM1-null patients.

neutrophilia


Input: Prostate tumor OVerexpressed-1 (PTOV1) down-regulates HES1 and HEY1 notch targets genes and promotes prostate cancer progression.

prostate cancer


Input: A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

NDP

Norrie disease

NDP

Norrie disease


Input: Direct sequencing following polymerase chain reaction of exons of FZD4 was performed for 24 probands with FEVR (18 familial and six sporadic), and some of their families.

sporadic


Input: The main goal of the study was to determine the difference in miR-21 expression among normal tissue, non-invasive, invasive with non-invasive component, and pure invasive breast cancer samples, to explain its potential role and significance in breast cancer invasiveness.

invasive breast cancer


Input: Rod ERG abnormalities (in addition to cone dysfunction) were detected in 59% of patients.

ERG

abnormalities


Input: We hypothesize that at least two modifications of OPA1 may lead to dominant optic atrophy, that is alteration in GTPase activity and loss of the last seven C-terminal amino acids that putatively interact with other proteins.

dominant optic atrophy

dominant optic atrophy


Input: The increase in pulmonary arterial pressure (PAP), PVR, RVM, and pulmonary vascular remodeling in response to chronic hypoxia was attenuated in animals overexpressing prepro-CGRP, whereas systemic pressure was not altered while in chronically hypoxic mice, angiotensin II and endothelin-1-induced increases in PAP were reduced, whereas decreases in PAP in response to CGRP and adrenomedullin were not changed and decreases in PAP in response to a cAMP phosphodiesterase inhibitor were enhanced by AdRSVCGRP.

PAP

hypoxic


Input: We identified the Pim-2 serine/threonine kinase as mainly responsible for 4E-BP1 phosphorylation on the S (65) residue and subsequent translation control in AML.

AML

AML


Input: Two candidate genes (FTO and INSIG2) for fat accumulation in four canids: chromosome mapping, gene polymorphisms and association studies of body and skin weight of red foxes.

weight


Input: In conclusion, HCA and HCC revealed changes in the expression of certain metabolic enzymes as compared with the non-neoplastic liver tissue or FNH.

HCC

non-neoplastic


Input: We observed that Ad-HDAC2 shRNA decreased inflammatory cell infiltration, reduced transnuclear expression of phospho-Smad3 and regressed fibrotic plaque of the tunica albuginea in PD rats in vivo.

plaque


Input: T (12; 14) (p13; q32) is a rare recurrent chromosomal translocation, which has only been identified in a small subgroup of mantle cell lymphoma (MCL) without typical t (11; 14) (q13; q32).

mantle cell lymphoma


Input: Among the identified proteins, apolipoprotein A-IV may protect lipid peroxidation and atherosclerosis induced by TCDD exposure and the expression level of phosphoglycerate mutase increases due to hyperthyroidism induced by TCDD exposure.

apolipoprotein A-IV

atherosclerosis

apolipoprotein A-IV

atherosclerosis


Input: The following percentages of these genes were found to be aberrantly methylated in gastric cancer samples; TFPI2 (80. 9%), GPX3 (30. 1%), DMRT1 (46. 9%), GPX1 (16. 7%), IGFBP6 (22. 6%) and IRF7 (32. 1%).

gastric cancer


Input: Targeted deletion of Sh2b1 in mice results in increased food intake, obesity, and insulin resistance, with an intermediate phenotype seen in heterozygous null mice on a high-fat diet.

insulin resistance


Input: Additionally, pioglitazone significantly enhanced carcinoid cell death induced by tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL).

TNF

carcinoid


Input: Genetic testing of FUS thus seems indicated in sporadic early-onset ALS patients especially if showing predominant bulbar symptoms and an aggressive disease course.

FUS

sporadic


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

leiomyomas

leiomyomas


Input: Our findings clearly indicate that, Ox-LDL significantly induced lincRNA-DYNLRB2-2 expression, which promoted ABCA1-mediated cholesterol efflux and inhibited inflammation through GPR119 in THP-1 macrophage-derived foam cells.

foam cells


Input: One tumor has a t (6; 22) (p21; q11) translocation, so that cyclin D3 is bracketed by the IgL and IgH breakpoints.

cyclin D3

translocation


Input: NF-κB1 and miR-9 were involved in the role of BANCR in gastric cancer cell growth and apoptosis.

BANCR

gastric cancer


Input: The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46, Y, inv (X) (p22. 13 approximately 22. 2p22. 32 approximately 22. 33) [49]/46, XY [271].

microphthalmia


Input: The compound Wnt5a +/-; P4ha1 +/-embryos demonstrated Wnt5a-/-related defects, for example local hyperplasia in the UB tree.

hyperplasia


Input: However, it has not been clear whether persons with Trp64Arg mutation in the beta (3) AR gene tend to have obesity and difficulty in losing weight even with a restricted diet and exercise.

AR gene

weight


Input: These data suggest that GARP is expressed in complex with TGFb on the surface of activated Treg cells and plays an important role in TGFb (+) Treg-mediated T cell immune suppression during lentivirus infection.

GARP

immune suppression


Input: Taken together, our results suggest that BA has anti-angiogenic activity by disturbing the binding of HIF-1α and STAT3 to the VEGF promoter in hypoxic PC-3 cells.

VEGF

hypoxic


Input: Meta-analysis suggests that reduced ApoA1 level and increased ApoB level and ApoB/A1 ratio are risk factors for a first ischemic but not hemorrhagic stroke.

hemorrhagic stroke


Input: We investigated the regulation of VPF/VEGF and its receptors by tissue hypoxia in normal human skin explants and in cultured skin cells in vitro.

VEGF

hypoxia


Input: In studies to elucidate the mechanism by which ATRA alters Rb2/p130 stability in ovarian cancer cells, it was determined that PP2A, a serine/threonine phosphatase, binds and dephosphorylates Rb2/p130.

ovarian cancer

ovarian cancer


Input: Our findings, the decreased CBFV in apoE epsilon4 allele carriers with MCI, suggest that a large sample and longitudinal study in CBFV and cognitive changes may have the implications on early diagnosis of Alzheimer' s disease.

MCI

cognitive changes


Input: Characterization of cells resistant to the potent histone deacetylase inhibitor spiruchostatin B (SP-B) and effect of overexpressed p21waf1/cip1 on the SP-B resistance or susceptibility of human leukemia cells.

SP-B

leukemia


Input: Brain hemorrhage was unlikely to be simply a form of scurvy since Slc23a1 (-/-) mice showed no hemorrhage in any other tissues and their skin had normal skin 4-hydroxyproline levels despite low ascorbic-acid content.

Brain hemorrhage

Brain hemorrhage


Input: Human (U251, U87, U343) and rat glioma cell lines (C6, 9L) were examined by the reverse transcriptase-polymerase chain reaction and subsequent nucleotide sequencing analysis to see whether they express wild type (wt)-p53 or mutated form (mut)-p53 messages.

glioma


Input: Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann' s corneal dystrophy in a German family.

keratin 12

Meesmann' s corneal dystrophy

keratin 12

Meesmann' s corneal dystrophy


Input: The NPY polymorphism was not associated with higher cholesterol levels in normal-weight Dutch.

NPY

weight


Input: We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.

WAC

prostate cancer

WAC

prostate cancer


Input: Hematopoietically expressed homeobox is a target gene of farnesoid X receptor in chenodeoxycholic acid-induced liver hypertrophy.

Hematopoietically expressed homeobox

hypertrophy


Input: We investigated the role of the Akt-mTOR pathway and its downstream molecular mechanisms in chronic hypoxia-and TGFβ-induced pulmonary vascular pruning and fibrosis in mice.

TGFβ

hypoxia


Input: After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medication use, cardiovascular disease and diabetes, and for all relevant genetic polymorphisms (ApoE2, ApoE4, CFH Y402H, ARMS2 A69S, LIPC rs10468017, LIPC rs493258, LPL rs12678919, ABCA1 rs1883025 and CETP rs3764261), higher HDL was significantly associated with an increased risk of early (OR = 2. 45, 95% CI: 1. 54-3. 90; P = 0. 0002) and any AMD (OR = 2. 29, 95% CI: 1. 46-3. 59; P = 0. 0003).

LPL

cardiovascular disease


Input: This raises the question, whether, similar to other potential schizophrenia susceptibility genes such as Disc1, PDE4B and Akt, VSNL1 may affect cAMP signaling and neurite outgrowth in neurons.

schizophrenia

schizophrenia


Input: Endemic pemphigus foliaceus (EPF) is an autoimmune bullous skin disease characterized by acantholysis and antibodies against a desmosomal protein, desmoglein 1.

EPF

acantholysis


Input: Genetic association of LMAN2L gene in schizophrenia and bipolar disorder and its interaction with ANK3 gene polymorphism.

bipolar disorder

bipolar disorder


Input: Estradiol modulates tumor necrosis factor-induced endothelial inflammation: role of tumor necrosis factor receptor 2.

tumor necrosis factor receptor 2

inflammation


Input: Haploinsufficient GATA4 may show variable expressivity with a wide spectrum of clinical findings, including CHD.

variable expressivity


Input: The association of 18F-deoxyglucose (FDG) uptake of PET with polymorphisms in the glucose transporter gene (SLC2A1) and hypoxia-related genes (HIF1A, VEGFA, APEX1) in non-small cell lung cancer. SLC2A1 polymorphisms and FDG-PET in NSCLC patients.

VEGFA

hypoxia


Input: Overexpression of miR-221 and miR-222 resulted in the reduction of genes involved in hypoxia response, metabolism, TGF-beta signalling, and cell motion.

TGF-beta

hypoxia


Input: The mevalonate-HMG-CoA reductase (HMGCR) pathway may modulate the YAP activation under hypoxia.

YAP

hypoxia


Input: These results suggest a novel mechanism for HBV-mediated pathogenesis of chronic liver diseases, including HCC.

HCC

liver diseases


Input: These findings suggest that the T allele, encoding aspartic acid, of the Glu298Asp polymorphism of the NOS3 may be associated with advanced stage endometriosis in the Korean population.

endometriosis


Input: Since endotoxemia and sepsis are different entities we have recently established a short-term sepsis model in rats induced by cecal ligation and incision (CLI).

CLI

endotoxemia


Input: Loss of AP-2alpha expression in metastatic melanoma occurs via a dual mechanism involving binding of CREB to the AP-2alpha promoter and CREB-induced overexpression of another oncogenic transcription factor, E2F-1.

CREB

metastatic melanoma


Input: U87 human glioma cells were treated with artemether at various concentrations and shRNA interfering technology was employed to silence the expression of VCAM-1.

glioma


Input: Our data contribute to the evidence that C5orf42 is one of the causative genes for OFDVI.

OFDVI

OFDVI


Input: In this study, we show that BMI1 is recurrently targeted by chromosomal aberrations in B-cell leukemia/lymphoma.

chromosomal aberrations


Input: Catechol-O-methyltransferase (COMT) and monoamine oxidase A (MAOA) are both involved in the degradation of various biogenic amines which have been hypothesized to have a relationship with personality traits.

COMT

personality traits


Input: We describe here the identification of additional point mutations in the LMX1B gene in a set of Italian patients affected with Nail-Patella syndrome: two deletions of 1 and 2 bp causing a frameshift in two sporadic patients and nonsense mutations in two familial and one sporadic cases have been identified.

LMX1B gene

sporadic


Input: Our observations support the concept of dosage effects of the PAX6 mutations as well as presenting evidence for variable expressivity.

variable expressivity


Input: The evidence for persistant viral infection, glutamate-mediated excitotoxicity, oxidative stress, altered neurofilament and peripherin expression, disrupted axonal transport, neurotrophin deficiency, and mitochondrial dysfunction are critically reviewed.

peripherin

viral infection


Input: A human proximal tubule cell line (HK-2) was subjected to hydrogen peroxide (H (2) O (2)) stress that resulted in phosphorylation of c-jun N-terminal kinases (JNKs) and the transcription factor NF-kappaB at Ser276, both of which have been associated with inflammation.

c-jun

inflammation


Input: Taken together, these findings demonstrate the mitochondrial involvement in FASN inhibition-induced apoptosis in melanoma cells.

FASN

melanoma

FASN

melanoma


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

PTH

bone density


Input: Advanced liver cirrhosis is associated with osteopenia and also with low serum levels of IGF-I.

IGF-I

osteopenia

IGF-I

osteopenia


Input: Loss of the chromosome 17 centromere (monosomy) was shown by FISH in some cells from all 14 endometriosis specimens, although in no case did every cell show monosomy 17.

FISH

endometriosis


Input: We found that none of the 230 LS patients developed cancer and that only 1 out of 116 patients with congenital IGHD, also suffering from xeroderma pigmentosum, had a malignancy.

IGHD

xeroderma pigmentosum


Input: TWEAK was expressed to a greater degree in the suprabasal layer in the cholesteatoma than in EAC skin.

TWEAK

cholesteatoma


Input: Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

holocarboxylase synthetase

holocarboxylase synthetase deficiency

holocarboxylase synthetase

holocarboxylase synthetase deficiency


Input: Some ARO forms are also associated with primary neurodegeneration, retinal atrophy, and lysosomal storage, which are caused by CLCN7 and OSTM1 gene mutations.

ARO

neurodegeneration


Input: Although preliminary we conclude from our results that the acute phase of major depressive disorder is associated with increased GLUT1 methylation and mild insulin resistance.

insulin resistance


Input: The IGF1R inhibitor successfully alleviated mechanical allodynia, heat hyperalgesia, and spontaneous pain behavior observed after plantar incision.

hyperalgesia


Input: The breakpoint of the t (14; 18) translocation occurs in the major breakpoint cluster region in the 3' untranslated region of bcl-2.

translocation


Input: Overexpression of activin-A and-B in malignant mesothelioma-attenuated Smad3 signaling responses and ERK activation promote cell migration and invasive growth.

malignant mesothelioma


Input: A significant difference was found between patients with a low expression of HSP27 (negative patients) and those with a high HSP27 expression (positive patients) of plasma levels both of antioxidants (GSH, p < 0. 05), and of markers of enhanced production of free radicals and cytokines (alpha GST, TNF-alpha and IL-6, p < 0. 05; MDA, 4-HNE and S-NO, p < 0. 01) as well as for alcohol use and degree of liver impairment.

HNE

alcohol use


Input: Uroguanylin concentrations are increased in patients with chronic renal failure, nephrotic syndrome, or those on dialysis.

Uroguanylin

nephrotic syndrome

Uroguanylin

nephrotic syndrome


Input: CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.

CRF

CRF


Input: Although GATA1-TEL transgenic mice appeared healthy up to 18 months of age, the level of hemoglobin was higher in transgenic mice compared to non-transgenic littermates.

TEL

hemoglobin


Input: Possible association of the GSK3β gene with the anxiety symptoms of major depressive disorder and P300 waveform.

major depressive disorder


Input: Conversely, normal CD34 + cell proliferation was decreased by adhesion to fibronectin with a concomitant drop in CDC25A expression.

adhesion


Input: Consisting of a fragment of ACTH (4-7) and C-terminal PGP tripeptide, the polypeptide Semax is successfully used for acute stroke therapy.

ACTH

acute stroke


Input: TCF4 mutational analysis was performed in 117 patients with PTHS-like features.

PTHS

PTHS


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

RUNX1 gene

translocation


Input: The effect of Ad-TIMP3 on the abilities of adhesion and invasion were evaluated by adhesion and invasion assay, respectively.

adhesion


Input: Coculture of ECs with RPE under conditions enabling direct EC-RPE contact enhances the proangiogenic potential of ECs under normoxia, to an extent similar to that induced by hypoxia, suggesting that ECs in direct contact with RPE cells might be more prone to pathologic angiogenesis involved in CNV formation.

RPE

hypoxia


Input: We describe the clinical and pathological features of a patient with TTR variant (gly53glu) with TTR amyloid infiltration of the leptomeningeal vessels in whom fatal cerebral haemorrhage occurred two months after OLT, soon after severe viral pneumonia.

TTR

cerebral haemorrhage


Input: CD39 improves survival in microbial sepsis by attenuating systemic inflammation.

inflammation


Input: Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

retinal disease


Input: A neuropeptide ligand of the G protein-coupled receptor GPR103 regulates feeding, behavioral arousal, and blood pressure in mice.

blood pressure


Input: Comparative studies using a transgenic mouse expressing human amyloid-beta-precursor protein (hAbetaPP) from the rPF4 promoter confirmed diminished hAbetaPP expression without affecting endogenous alpha-granule PF4, establishing generalizability of these observations.

amyloid


Input: In this study, we collected 16 additional HHH cases and expanded the spectrum of SLC25A15/ORC1 mutations.

HHH

HHH


Input: Here, we show that inhibition of cGMP-selective PDE5 (phosphodiesterase 5) suppresses endothelin-1-, diacylglycerol analog-, and mechanical stretch-induced hypertrophy through inhibition of Ca (2 +) influx in rat neonatal cardiomyocytes.

hypertrophy

hypertrophy


Input: In multivariate logistic regression analysis, CDX2 loss was associated with female gender [odds ratio (OR), 3. 32; P < 0. 0001], CIMP-high (OR, 4. 42; P = 0. 0003), high tumor grade (OR, 2. 69; P = 0. 0085), stage IV disease (OR, 2. 03; P = 0. 019), and inversely with LINE-1 hypomethylation (for a 30% decline; OR, 0. 33; P = 0. 0031), p53 expression (OR, 0. 55; P = 0. 011), and beta-catenin activation (OR, 0. 60; P = 0. 037), but not with body mass index, tumor location, microsatellite instability, BRAF, KRAS, PIK3CA, p21, or cyclooxygenase-2.

beta-catenin

body mass index


Input: The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).

adRP

macular degeneration


Input: AIM: To evaluate the relationship between the Caveolin-1 (CAV1) T29107A (rs7804372) polymorphism and the risk of prostate cancer among Japanese populations, and the associations between CAV1 polymorphisms and clinicopathological characteristics, including Gleason grade and prostate-specific antigen (PSA) grade.

AIM

prostate cancer


Input: This study examined the effect of SNL on the expression of cyclooxygenase (COX)-1, COX-2, and prostaglandin E2 receptors in the rat lumbar spinal cord, and the temporal and pharmacologic relation of these changes to the exaggerated A-and C-fiber-mediated reflex responses and allodynia, 24 h after injury.

COX

allodynia


Input: Transactivation response element (TAR) DNA-binding protein 43 (TDP-43) is the principal component of ubiquitinated inclusions characteristic of most forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia-frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), as well as an increasing spectrum of other neurodegenerative diseases.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia.

periventricular neuronal heterotopia

periventricular neuronal heterotopia


Input: A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.

PROP1 gene

pituitary hormone deficiency


Input: MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences.

MMR

microsatellite instability


Input: Since CRPC is associated with androgen receptor (AR) hypersensitivity, we investigated the relationship between SRF and AR.

SRF

hypersensitivity


Input: Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

tyrosine aminotransferase

tyrosinemia type II

tyrosine aminotransferase

tyrosinemia type II


Input: A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c. 565C & gt; T [p. Glu189 *]) in RAB28 in a German family with three siblings with arCRD.

CRD

CRD


Input: We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.

HMSN VI

HMSN VI


Input: Importantly, NSE-OVA mice having received OVA-specific TCR transgenic CD8 T cells developed an accelerated, more severe, and extended neurological disease.

neurological disease


Input: Probands of seven families with isolated TGA and a family history of concordant or discordant congenital heart disease were screened for mutations in the ZIC3, ACVR2B, LEFTYA, CFC1, NODAL, FOXH1, GDF1, CRELD1, GATA4 and NKX2. 5 genes.

LEFTYA

congenital heart disease


Input: Expression of PAX8 or PAX2 in both nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract may indicate a possible related tissue origin for these 2 lesions; both may be derived from proliferating renal tubular cells in the urinary tract.

clear cell adenocarcinoma


Input: We show for the first time that Hmox1 is constitutively expressed at barrier tissues at the interface between the internal and external environments, and that it is highly induced in muscle cells during systemic inflammation.

inflammation

inflammation


Input: The findings suggest a role of NRN1 as a modifier of cognitive functioning in SZ, with implications for future research into the impact of the environment on the development and maintenance of " fluid " intelligence.

SZ

SZ


Input: High-dose paclitaxel with granulocyte colony-stimulating factor in patients with advanced breast cancer refractory to anthracycline therapy: a European Cancer Center trial.

granulocyte colony-stimulating factor

breast cancer

granulocyte colony-stimulating factor

breast cancer


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

psychosis

psychosis


Input: A haplotype involving the most 5' IRF6 markers was associated with sporadic tooth agenesis (p = 0. 006).

tooth agenesis


Input: The clusterin (CLU) gene has been proposed as a candidate because of the presence of clusterin protein in pseudoexfoliation deposits, its varied levels in aqueous humor of cases compared to controls, and the role of the protein as a molecular chaperone.

CLU

pseudoexfoliation


Input: These results collectively suggest distinct roles for iPLA2beta and iPLA2gamma in cellular homeostasis and signaling, a functional link between peroxisomal AA release and eicosanoid generation, and a potential contribution of iPLA2gamma to tumorigenesis.

tumorigenesis


Input: In four families (Families 1, 2, 5, 6) with the adult type of hypophosphatasia, inherited as autosomal dominant, the NAP score and TALP (< 40 iu/l), were low, < 20 and < 40 iu/l respectively, in all affected subjects, though the PEA and PLP were not consistently abnormal.

NAP

hypophosphatasia


Input: Our data provide insights into the mechanistic regulation and linkage of the ROR1-HER3 and Hippo-YAP pathway in a cancer-specific context, and also imply valuable therapeutic targets for bone metastasis and possible therapy-resistant & #160; tumours.

metastasis

metastasis


Input: The raised levels correlated to the degree of splenomegaly, suggesting that HDAC might be recruited as ET or PV progresses into myelofibrosis or PMF progresses into a more advanced stage.

HDAC

splenomegaly


Input: These results support the hypothesis that GTP cyclohydrolase 1 inhibition decreases relaxation and increases blood pressure in rats.

GTP cyclohydrolase 1

blood pressure


Input: Development of TRAIL resistance by radiation-induced hypermethylation of DR4 CpG island in recurrent laryngeal squamous cell carcinoma.

recurrent laryngeal squamous cell carcinoma


Input: ERK1/2 mRNA expression was down-regulated in the depression model group compared with the normal control group (P & lt; 0. 01).

depression

depression


Input: Moreover, EGLN3 gene expression was upregulated in response to hypoxia only in M2 (M-CSF) macrophages, and the hypoxia-mediated upregulation of EGLN3 expression was significantly impaired by activin A neutralization.

M-CSF

hypoxia


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

FISH

neurofibromatosis 1


Input: Whether smoking was associated with a BRAF somatic mutation depended on gender.

BRAF

smoking


Input: Abnormal increments of HSP70 in atherosclerotic plaques might lead to plaque instability and rupture caused by chronic inflammation, which up-regulates the expression of pro-inflammatory cytokines (IL-6 and TNF-alpha) in human monocytes.

plaque


Input: The phenotype of the STP mice represents a transient state from ADMs to PanINs, closely mimicking the interface area seen in human chronic pancreatitis associated with PDAC.

STP

chronic pancreatitis


Input: A second intriguing finding was that DPPII specific activity increased during necrosis, whereas induction of apoptosis or autophagy did not affect any of the dipeptidyl peptidase activities.

DPPII

necrosis

DPPII

necrosis


Input: Expression of vitamin D receptor mRNA in the hippocampal formation of rats submitted to a model of temporal lobe epilepsy induced by pilocarpine.

vitamin D receptor

temporal lobe epilepsy

vitamin D receptor

temporal lobe epilepsy


Input: The phenotypic expression of WD was compared between patients with different types of mutations in ATP7B, detected by direct sequencing of exons 1-21 of the gene.

WD

WD


Input: The findings also suggest that some candidate genes that are assumed to have a relatively limited impact on SZ and ASD pathogenesis based on a small number of positive genetic findings, such as SMARCA2 and ARNT2, may in fact have a much more substantial role in these disorders-as targets of common environmental stressors.

SZ

SZ


Input: It delayed mortality by lowering PAP, RVH and vascular remodeling.

PAP

vascular remodeling


Input: Several recent trials have reported that the sensitivity of MRI for imaging breast cancer greatly exceeds that of conventional mammography, but no study has yet determined that annual MRI reduces breast cancer-specific mortality.

MRI

breast cancer


Input: TRAIL and its receptor, DR5, were expressed in wild-type retinas at all time points evaluated (postnatal days 12, 17, 21, 24) during oxygen-induced retinopathy and in age-matched room air control animals.

TRAIL

retinopathy


Input: The ability of the VEGF isoforms to stimulate growth, angiogenesis, oxygenation, and the formation of necrotic GBM-like tumors was then monitored.

VEGF

necrotic


Input: Although the effect of variation at rs37369 needs further study, these findings suggest that AGXT2 is an important regulator of methylarginines and represents a novel mechanism through which the kidney regulates blood pressure.

blood pressure


Input: Consequently, VEGF blockade restores and increases MET activity in GBM cells in a hypoxia-independent manner, while inducing a program reminiscent of epithelial-to-mesenchymal transition highlighted by a T-cadherin to N-cadherin switch and enhanced mesenchymal features.

VEGF

hypoxia


Input: Of the astrocytoma associated hypermethylated genes, the methylation pattern of the CDH13, cyclin a1, DBCCR1, EPO, MYOD1, and p16INK4a genes changed in no more than 5. 66% (3/53) of astrocytoma tissues compared to non-astrocytoma controls, while the RASSF1A, p73, AR, MGMT, CDH1, OCT6, MT1A, WT1, and IRF7 genes were more frequently hypermethylated in 69. 8%, 47. 2%, 41. 5%, 35. 8%, 32%, 30. 2%, 30. 2%, 30. 2% and 26. 4% of astrocytoma tissues, respectively.

EPO

astrocytoma


Input: Transient neutropenia, monocytopenia, and lymphocytopenia were observed followed by a 1. 3-to 6. 0-fold (mean, 3. 46-fold) dose-dependent neutrophil leukocytosis (P less than. 00001) on the days of IL-1 beta administration.

IL-1 beta

leukocytosis

IL-1 beta

leukocytosis


Input: The CC genotype, which is associated with higher producibility of IL-10, was more frequent in patients with severe HD than in those with mild HD (p = 0. 0201).

mild


Input: Here we report that in the human multiple myeloma cell line KAS 6/1, the SOD-2 gene, encoding manganese superoxide dismutase, is epigenetically silenced as a result of promoter hypermethylation.

multiple myeloma

multiple myeloma


Input: In this study, we investigated the association of STR polymorphisms in genes encoding mast cell chymase (CMA1), uteroglobin (UGB), tumor necrosis factor-α (TNF-α) and interleukin-4 (IL-4) with asthma and atopic phenotypes in the large population-based Swiss Cohort Study SAPALDIA.

TNF-α

atopic


Input: These results suggest that TACI mutations can result in CVID and IgAD.

TACI

CVID

TACI

CVID


Input: We identify a total of 97 SMGs, including 70 not previously implicated in prostate cancer, such as the ubiquitin ligase CUL3 and the transcription factor SPEN.

prostate cancer

prostate cancer


Input: Duplication of the short arm of chromosome 5 [dup (5) (p13. 1p15. 3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retardation.

cardiac defects


Input: The inflammation induced cyclooxygenase 2 (COX-2) enzyme required for the production of Prostaglandin E2 (PGE2), can promote colorectal cancer by decreasing expression of the tumour suppressor gene Programmed Cell Death 4 (PDCD4).

inflammation


Input: An epithelial-mesenchymal transition (EMT) is believed to be important for primary tumor progression and dissemination, whereas a mesenchymal-epithelial transition (MET) appears crucial for metastatic colonization.

EMT

tumor progression


Input: All these effects were also seen in the Ben-Men-1 cell line in which studies on the role of HIF-1 in the regulation of VEGF-A showed that not only hypoxia but also the growth factors induced HIF-1α and DEX suppressed HIF-1α induction.

VEGF-A

hypoxia


Input: Mediated by the hypoxia-inducible transcription factor HIF-1alpha/beta, a reduction in O2 tension (pO2) leads to increased VEGF gene expression in nonmalignant tissues.

VEGF

hypoxia


Input: Twenty-two BRCA1-associated ovarian cancer cases were matched with sporadic cases (no family history of ovarian or breast cancer) for FIGO stage, grade, histologic subtype, and patient age and hormone receptor expression was measured immunohistochemically.

hormone receptor

sporadic


Input: Promoter hypermethylation of let-7a-3 is relevant to its down-expression in diabetic nephropathy by targeting UHRF1.

diabetic nephropathy


Input: Elevated 14-3-3epsilon binds and sequesters p-Bad and prevents Bad translocation to neutralize the anti-apoptotic function of Bcl-2.

translocation


Input: The lack of TRPM8 induced axon-reflex indicates that also de-novo expression of TRPM8 on mechano-insensitive C-nociceptors does not underlie cold allodynia in these patients.

cold


Input: We investigated the expression of TSPAN7 in the haematological malignancy multiple myleoma (MM) and assessed the consequences of TSPAN7 expression in the adhesion, migration and growth of MM plasma cells (PC) in vitro and in bone marrow (BM) homing and tumour growth in vivo.

adhesion


Input: MPO (-/-) demonstrated decreased leukocyte infiltration, significant reduction in LV dilation, and marked preservation of LV function.

MPO

dilation


Input: Increased mature and immature CCR3 messenger RNA + eosinophils in bone marrow from patients with atopic asthma compared with atopic and nonatopic control subjects.

atopic


Input: Decreased nuclear SOX17 in the hPST model was strongly correlated with in vivo teratogenicity.

teratogenicity

teratogenicity


Input: These findings show that dysregulation of the TAK1 complex produces a close phenocopy of FMD caused by FLNA mutations.

FMD

FMD


Input: This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders.

LEPR

body weight


Input: Using comprehensive genomic approaches, we identified loss-of-function somatic alterations of the Polycomb repressive complex 2 (PRC2) components (EED or SUZ12) in 92% of sporadic, 70% of NF1-associated and 90% of radiotherapy-associated MPNSTs.

EED

sporadic


Input: We studied plasma antithrombin III (AT-III), alpha 1-PI, alpha 2-antiplasmin (alpha 2-A), alpha 2-macroglobulin (alpha 2-M) activity, and some blood coagulation and fibrinolysis tests in children with frequently relapsing prednisone-responsive NS.

antithrombin III

NS

antithrombin III

NS


Input: Rabbits inoculated intravenously with HVP-producing cells showed increased anti-EBV-VCA-IgG titers, and most (85%) subsequently died of fatal LPD and VAHS, with bleeding and hepatosplenomegaly, during 22-105 days.

LPD

hepatosplenomegaly


Input: Lung SCC cells stably transfected with pEGFP-DDR2 WT, pEGFP-DDR2-S131C or empty vector were injection into nude mice to study the effect of DDR2 and its' mutation on tumorigenesis in vivo.

tumorigenesis


Input: Liver weight (P < 0. 01) and hepatic cholesterol content (P < 0. 01) were significantly increased in sPLA2 transgenic mice compared with controls as a result of increased scavenger receptor class B type I (SR-BI)-mediated hepatic selective uptake of HDL cholesterol (P < 0. 01), whereas hepatic SR-BI expression remained unchanged.

SR-BI

weight


Input: The objective of this study was to characterize the onset, severity, and duration of diarrhea after administration of neratinib 240 mg once daily (QD) and 120 mg twice daily (BID) for ≤ 14 days in healthy subjects.

BID

diarrhea


Input: However, in complete intestinal ischemia-reperfusion, prevention of PMN adhesion by monoclonal antibodies to CD11b and CD18 reduces remote but not local intestinal injury.

intestinal ischemia


Input: Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1. 5-Mb tandem DNA duplication in chromosome 17p11. 2-p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1. 5-Mb deletion at this locus.

hereditary neuropathy with liability to pressure palsies


Input: Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia.

schizencephaly

schizencephaly


Input: Our data suggest that the alterations in nuclear and mitochondrial activation of STAT3 and caveolae localization of caveolin-3 are related to the development of the catecholamine-induced cardiac hypertrophy.

cardiac hypertrophy

cardiac hypertrophy


Input: These results provide molecular evidence showing that the activation of Notch signaling is mechanistically linked with chemoresistance phenotype (EMT phenotype) of PC cells, suggesting that the inactivation of Notch signaling by novel strategies could be a potential targeted therapeutic approach for overcoming chemoresistance toward the prevention of tumor progression and/or treatment of metastatic PC.

EMT

tumor progression


Input: Activation of genes coding for pro-and antioxidant enzymes, cytokines, adhesion molecules, and tissue inhibitor of metalloproteinase 1 (TIMP-1) indicates that biomechanical stimuli may contribute to vascular oxidant stress, inflammation, and tissue remodeling.

inflammation

inflammation


Input: We were interested in identifying mutations in the TLR2 gene that might prove to be associated with altered susceptibility to septic shock.

TLR2 gene

septic shock


Input: Neuron-specific mapping of the genome-wide distribution of H3K4me3 revealed 136 differentially enriched loci associated with genes implicated in neuronal development and neurodegeneration, including GPR3, TMEM106B, PDIA6 and the Notch signaling genes hairy and enhancer of split 4 (HES4) and JAGGED2, supporting the view that the neuronal epigenome is affected in HD.

neurodegeneration


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).

microsatellite instability


Input: Here, we investigate the relation between miRNA expression and NGAL expression, and the role of NGAL in tumorigenesis.

NGAL

tumorigenesis


Input: AGXT mutation analysis and assessment of biochemical characteristics and clinical outcome were performed on patients from a Dutch PH1 cohort.

AGXT

AGXT


Input: The human serum protein transthyretin (TTR) is highly fibrillogenic in vitro and is the fibril precursor in both autosomal dominant (familial amyloidotic polyneuropathy [FAP] and familial amyloidotic cardiomyopathy [FAC]) and sporadic (senile systemic amyloidosis [SSA]) forms of human cardiac amyloidosis.

SSA

polyneuropathy


Input: The mRNA and protein expression levels of AQP9 were up-regulated in the retina of an animal model of glaucoma.

glaucoma


Input: The identification of mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1) as a gene that is perturbed in the B-cell neoplasm MALT lymphoma, already more than a decade ago, was the starting point for an intense area of research.

translocation


Input: Methylation levels at adjacent CpGs varied with maternal age, smoking, education, and having siblings < 5 years old. Our data support an association between cord blood PRF1 enhancer methylation patterns and subsequent risk of LRTIs in infants.

smoking


Input: The role of Dachshund homolog 2 gene (DACH2) in tumorigenesis remains unexplored.

tumorigenesis


Input: Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

Wilson disease

Wilson disease


Input: This case-control study explored the relationship between early recurrent spontaneous abortion (RSA) and the expression of two genes: VEGFA, the gene encoding vascular endothelial growth factor (VEGF); and fms-related tyrosine kinase 1 (FLT1), the gene encoding the soluble VEGF receptor-1 (sFlt-1).

recurrent spontaneous abortion


Input: Our results suggest that the MMP-9 gene may play a role in the pathogenesis of alcohol dependence.

alcohol dependence

alcohol dependence


Input: Loss of Testisin has been implicated in testicular tumorigenesis, but its role in testis biology and tumorigenesis is not known.

Testisin

tumorigenesis


Input: This study demonstrates that the disorder of lipid metabolism in the adipose and liver tissues is induced in regucalcin TG rats with aging, and that the gene expression of leptin or adiponectin is suppressed in TG rats.

regucalcin

disorder of lipid metabolism


Input: Her hepatic failure and symptoms of Stevens-Johnson syndrome were successfully treated with intravenous prednisolone and infusion of fresh-frozen plasma or albumin, as the occasion demanded.

albumin

Stevens-Johnson syndrome

albumin

Stevens-Johnson syndrome


Input: The adjusted hazard ratio for the development of stages II to IV breast cancer associated with MRI screening was 0. 30 (95% CI, 0. 12 to 0. 72; P =. 008).

MRI

breast cancer


Input: Our previous studies showed that a binding partner of ELL, U19/Eaf2, can modulate HIF-1alpha activity and hypoxia response, suggesting that ELL may also influence HIF-1alpha pathway and hypoxia response.

hypoxia


Input: In conclusion, overexpression of MRP2 correlates with a lower percentage of tumor necrosis in patients treated with cisplatin-based neoadjuvant chemotherapy for HCC, whereas either tumor size or dose of cisplatin does not.

HCC

tumor necrosis


Input: Differential Wnt pathway gene expression and E-cadherin truncation in sporadic colorectal cancers with and without microsatellite instability.

E-cadherin

microsatellite instability


Input: These results suggest that the downregulation of the CST6 gene is associated with promoter histone modifications and that this association plays an important role in prostate cancer progression during the invasive and metastatic stages of the disease.

prostate cancer

prostate cancer


Input: Our findings account for clinical heterogeneity of TTR-derived amyloidosis, and suggest the importance of substitution itself for deposits of amyloid in CTS.

TTR

CTS

TTR

CTS


Input: Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy.

autosomal-recessive bestrophinopathy

autosomal-recessive bestrophinopathy


Input: Although present in the mammalian kidney, CNP production in human kidney and its modulation in human renal disease remain less defined.

CNP

renal disease


Input: Activated RhoA down-regulated p53 protein, which increased VEGF expression in hypoxic MCF-7 cells; whereas p53 messenger RNA levels were not altered.

VEGF

hypoxic


Input: We identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism.

KIT

piebaldism

KIT

piebaldism


Input: Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

CFTR

congenital bilateral absence of vas deferens

CFTR

congenital bilateral absence of vas deferens


Input: DNA samples from the German centres of the European Community Respiratory Health Survey were analysed for genetic variants in the IL1RA gene and the development of asthma, atopy and bronchial hyperreactivity.

bronchial hyperreactivity


Input: We confirmed specific deregulation of Fmn2, Arntl2, Bfsp2, Gfra2, Gpm6a, and Gpm6b in B leukemia, of Nln, Fbln1, and Bmp7 in T leukemias, and of Etv5 in both leukemias.

leukemias


Input: These data suggest hypoxia as a central stimulus of angiogenesis in human HCC through upregulation of VEGF gene expression by at least two distinct molecular mechanisms: activation of VEGF gene transcription and an increase in VEGF mRNA stability.

VEGF

hypoxia


Input: In the FOXP1 mutation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk.

hit


Input: Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction.

MIM

oculocutaneous albinism


Input: Therefore, this study provides further evidence suggesting that piccolo, RIMS2, RIMS3, but not the entire components of the active zone are involved in the neurobiology of schizophrenia.

schizophrenia

schizophrenia


Input: Resident (GFP (-)/Iba1 (+)/CD68 (-)) microglia and bone marrow-derived macrophages (BMDMs; GFP (+)/Iba1 (+)/CD68 (+)) colocalized in the mild group 7d after SCI/R.

mild


Input: Two SNPs near the BAT2 and MC4R genes and 3 SNPs within the FTO, SEC16B, and SH2B1 genes were significantly associated with body mass index (weight (kg)/height (m) (2)), body weight, and the prevalence of obesity.

FTO

height


Input: DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.

acute lymphoid leukemia


Input: afibrinogenaemia, autosomal recessive disorders, factor VIII, factor XI, factor XIII.

factor XI

afibrinogenaemia


Input: The t (11; 18) (q21; q21) translocation has been identified in a subset of MALT lymphoma cases, and AP12 and MLT1/MALT1 genes have been implicated in this translocation.

translocation


Input: Both cell lines carry the characteristic t (14; 18) chromosomal translocation and display constitutively overexpressed Bcl-2.

chromosomal translocation


Input: Six other families with Perrault syndrome have wild-type sequences of HSD17B4.

Perrault syndrome

Perrault syndrome


Input: The Chinese herbal medicine FTZ attenuates insulin resistance via IRS1 and PI3K in vitro and in rats with metabolic syndrome.

insulin resistance


Input: We studied 51 subjects without (Pro/Pro) and 26 subjects with this polymorphisms (X/Ala) (both groups non-diabetic) by a modified hyperglycaemic clamp which permitted determination of both insulin secretion (in response to glucose, GLP-1 and arginine) and insulin sensitivity.

insulin sensitivity


Input: We therefore assessed the applicability of using GAPDH as a reference gene for expression studies in sepsis compared to other housekeeping genes (succinate dehydrogenase complex subunit A (SDHA), hypoxanthine phosphoribosyltransferase (HPRT)-1).

SDHA

sepsis


Input: We have previously demonstrated that SLC25A1 (CIC) promotes tumorigenesis, while its inhibition blunts tumor growth.

tumorigenesis


Input: Affected muscle showed mild dystrophic changes, vacuoles, and abnormal aggregation of proteins, including TDP-43 and DNAJB6 itself.

mild


Input: In this study, we measured the mRNA expression levels of dysbindin-1, NRG-1 and two other genes (NPY1R and GNAO1) in immortalized lymphocytes from 45 patients with schizophrenia and 45 controls using real-time quantitative reverse transcriptase-PCR.

schizophrenia

schizophrenia


Input: Evidence suggests a modifier allele in AIPL1 in a patient with LCA with prominent atrophic macular lesions and homozygous defects in CRB1.

atrophic


Input: The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).

schizophrenia

schizophrenia


Input: The changes after ischemia seemed to occur at the same time both in the dendritic spines and in their shafts, and the increase of the immunoreactivity for drebrin in CA3 might suggest the change of cytoskeletal protein synthesis in survived neurons.

ischemia


Input: These results show that the mutant EGFR interacts with other growth factors and hypoxia to regulate VEGF via a PI3 kinase pathway, and suggests a specific role for anti-mutant EGFR antibodies and PI3 kinase inhibitors as therapy of this specific tumour target.

VEGF

hypoxia


Input: Thus we hypothesized that SIRT1 attenuates nasal polyposis by inhibiting HIF-1-induced EMT.

nasal polyposis


Input: In hamster with opisthorchiasis-associated CCA, the expression of ANXA1 was observed in the cytoplasm of inflammatory cells, bile duct epithelia and tumor cells.

opisthorchiasis


Input: DNA samples isolated from 29 patients with sporadic endometrial cancer were analyzed for allelic changes in 12 highly polymorphic microsatellite loci on nine chromosomes, containing CAG repeat in the exon 1 of the androgen receptor gene.

androgen receptor gene

sporadic


Input: Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort.

CCNF

ALS

CCNF

ALS


Input: Affected individuals exhibited a lethal microcephaly syndrome linked to inadequate uptake of LPC lipids.

LPC

microcephaly


Input: Mean of intraocular pressure, corneal diameter and number of surgery values and cup-to-disc ratios, and percentages of patients with bilateral PCG, eyes with severe opacities and severe phenotype, and those that needed > 1 trabeculectomy were significantly higher in the CYP1B1 mutation carriers (n = 51) than in the no CYP1B1 mutation group (n = 43).

cup


Input: In vivo, bG47Delta-PF4 was more efficacious than its nonexpressing parent bG47Delta-empty at inhibiting tumor growth and angiogenesis in both human U87 glioma and mouse 37-3-18-4 malignant peripheral nerve sheath tumor models.

glioma


Input: IRS1 mRNA and protein resulted higher, relative to paired mucosa, in adenomas of familial adenomatous polyposis patients and in CRCs that overexpressed c-MYC, ß-catenin, InsRß, and IGF1R.

familial adenomatous polyposis