Input: Solid pseudopapillary neoplasms of the pancreas are associated with FLI-1 expression, but not with EWS/FLI-1 translocation.

EWS

translocation


Input: Increased expression of IL-4delta2 in stable asthmatic subjects suggests that the balance of IL-4 and IL-4delta2 may modulate asthmatic inflammation.

inflammation


Input: Regression analyses demonstrated that the increased levels of CD4 (+) CD28 (null) T cells were positively correlated to serum levels of C-reactive protein, suggesting systemic inflammation and atherosclerosis.

atherosclerosis


Input: Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer.

sporadic


Input: SIRT1-mediated activation of FGF21 prevents liver steatosis caused by fasting.

liver steatosis

liver steatosis


Input: DBC1 was hypermethylated in 5 of 5 B-cell-derived lymphoma cell lines, 41 of 42 diffuse large B-cell lymphomas, 24 of 24 follicular lymphomas, 5 of 5 mantle cell lymphomas, 4 of 4 small lymphocytic lymphomas, 1 of 2 lymphoplasmacytoid lymphomas, and in 12 of 12 acute lymphoblastic leukemias, but was unmethylated in 1 case of splenic marginal zone lymphoma, in 12 of 12 multiple myelomas, in 24 of 24 reactive lymph nodes, and in 12 of 12 samples of blood lymphocytes from random donors.

lymphoma


Input: Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis.

PCLD

PCLD


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

ESSs

inflammatory myofibroblastic tumor


Input: RER positivity occurs from an early stage of carcinogenesis in HNPCC but in later stages in non-HNPCC.

RER

carcinogenesis


Input: Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle' s loop (tALH), causing renal magnesium wasting and hypercalciuria.

MIM

hypercalciuria


Input: We evaluated angiogenesis and p53 expression in 16 hyperplastic polyps, 35 solitary tubular and tubulovillous adenomas, and 47 cases of sporadic colorectal carcinomas arising on the basis of preexisting adenomas, with standard immunohistochemical techniques.

sporadic


Input: It seems that examination of sporadic or familial MM cases for the 1100delC germline mutation in CHK2 is not justified.

sporadic


Input: VEGF-460 CC was more common in UTI cases with renal scarring than in non-scarring patients and controls (P = 0. 03 and 0. 001, respectively).

VEGF

scarring


Input: In this study, we demonstrate that MCPIP1 functions as a potent tumor suppressor that induces apoptosis of breast tumor cells by selectively enhancing mRNA decay of antiapoptotic gene transcripts, including Bcl2L1, Bcl2A1, RelB, Birc3, and Bcl3.

RelB

breast tumor


Input: PCR-PFLP was applied to determine the genotypes of Ala55Val variant in the UCP2 gene of 86 Chengdu people (the simple obesity group, 43 subjects; the normal-weight group, 43 subjects).

UCP2 gene

weight


Input: Fragile histidine triad (FHIT) loss by the two-hit mechanism of loss of heterozygosity and promoter hypermethylation commonly occurrs in non-small cell lung cancer (NSCLC) and may confer cisplatin resistance in NSCLC cells.

FHIT

hit


Input: Spinal K252a treatment did not alter hypersensitivity from spinal nerve ligation (SNL), but blocked the SNL-associated increase in dopamine-β-hydroxylase (DβH) fiber density in the spinal cord dorsal horn while reducing spinal choline acetyltransferase (ChAT)-immunoreactivity.

choline acetyltransferase

hypersensitivity


Input: Smoking and high mean GBI are associated with an increased risk for recurrence of periodontitis, whereas regular SPT acts as a protective factor.

SPT

periodontitis


Input: Deprivation of glucose or stimulation with adenosine or noradrenaline leads to an increased phosphorylation of PP1-R3F bound GS at Ser640 and Ser644 curtailing glycogen synthesis and facilitating glycogen degradation to provide glucose in astrocytoma cells.

astrocytoma


Input: LR11 expression was also evaluated based on immunoblotting and LR11 immunostaining intensity in human frontal cortex in controls, sporadic AD, and FAD, including cases with presenilin-1 (PS1) and presenilin-2 (PS2) mutations.

FAD

sporadic


Input: DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Sertoli-Leydig cell tumors

Sertoli-Leydig cell tumors


Input: The NF1 gene, mutated in NF1, is also commonly mutated in sporadic glioblastoma multiforme (GBM).

NF1 gene

sporadic


Input: This study investigated the associations of OGG1 Ser326Cys SNP in relation to HIV and obesity on the susceptibility of low-birthweight (LBW) and pre-term birth (PTB) in SA women exposed to ambient air-pollution living in Durban.

pre-term

pre-term


Input: It was recently reported that an intronic variant of p53--G13964C--occurred in three out of 42 (7. 1%)' hereditary' breast cancer patients, but not in any of 171' sporadic' breast cancer control individuals (P = 0. 0003).

sporadic


Input: Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.

endometriosis

endometriosis


Input: In contrast, the CD44 + CD24-/low population expansion is HIF1α independent and requires prolyl hydroxylase 3 (PHD3) downregulation, which mimics hypoxic conditions, leading to reduced CD24 expression through activation of NFkB signaling.

hypoxic


Input: However, the XRCC1 Arg194Trp and Arg280His variants were each associated with a reduced risk of lung cancer among subjects in the highest quartile of pack-years of smoking compared with common allele homozygotes (ORs of 0. 65 [95% CI = 0. 46 to 0. 93] and 0. 56 [95% CI = 0. 36 to 0. 86], respectively).

smoking


Input: Family-based association study of IGF1 microsatellites and height, weight, and body mass index.

weight


Input: Our results indicate a role for MT1-MMP not only in the matrix degradation by fibroblasts, but also in osteoclast-mediated bone resorption in RA.

bone resorption


Input: In particular, frequent losses on 4p, 4q, and 5q in BRCA1 tumors and frequent gains on 7p and 17q24 in BRCA2 tumors distinguish these from sporadic tumors.

sporadic


Input: Repair of chromosome breaks was impaired in lymphocytes from affected, but not unaffected, females in both families, consistent with MCM9 function in homologous recombination.

chromosome breaks


Input: The MIF risk genotypes and H. pylori conferred a joint ARP of 93. 2% to gastric cancer.

MIF

gastric cancer


Input: Further, in silico analysis revealed that the-1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in the development of the nervous system.

nervous system


Input: Breast cancer cells that survived chemotherapy or hypoxia were enriched for cells expressing the major hyaluronic acid receptor CD44.

hypoxia


Input: These include previously unrecognized putative cancer drivers (RPS15, IKZF3), and collectively identify RNA processing and export, MYC activity, and MAPK signalling as central pathways involved in CLL.

CLL

CLL


Input: The HCC development was associated with expression of early HCC markers (glutamine synthetase, glypican 3, heat shock protein 70, and the serum marker alpha fetoprotein), although without fibrosis.

HCC

fibrosis


Input: ErbB2 overexpression also impaired the regression of established RM11A tumors following IGF-IR downregulation and enhanced their metastatic potential.

IGF

regression


Input: Desmoplastic small round cell tumor (DSRCT) is a primitive sarcoma characterized by a recurrent chromosomal translocation, t (11; 22) (p13; q12), which fuses the 5' exons of the EWS gene to the 3' exons of the WT1 gene.

EWS gene

chromosomal translocation


Input: There are no effective treatments for fibrosis, an out-of-control wound-healing process in which excessive deposition of extracellular matrix (ECM) such as collagen, resulting in significant morbidity and mortality.

ECM

fibrosis


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

IGHD

weight


Input: The recent identification of a novel BRCA2 binding protein, EMSY, as a putative oncogene implicates the BRCA2 pathway in sporadic tumors.

sporadic


Input: The transplantation of EPCs expressing TERT into five out of six subtotal nephrectomy rats was shown to improve renal function, reduce loss of peritubular microvessel, and inhibit progression of renal interstitial fibrosis.

TERT

renal interstitial fibrosis


Input: Our study suggests that novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for PPD in Chinese patients.

PPD

PPD


Input: Pure desmoplastic melanomas were either devoid of mutations (50%) or displayed mutations in tumor suppressor genes (TP53, CDKN2A, and SMAD4) singularly or in combination with the exception of a PIK3CA double-mutation lacking established biological relevance.

desmoplastic


Input: These neurological symptoms may also be due to DST gene mutation, although he has a concomitant diagnosis of CADASIL (cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy), a cerebral small-vessel arteriopathy, which thus complicates the genotype-phenotype interpretation.

DST gene

leukoencephalopathy


Input: The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.

smoking


Input: Meanwhile, we found that the expression of MSH2, MSH6, NUDT1 and XRCC3 were only significantly lower in grade II and III of astrocytoma, and the expression of MRE11A and MUS81 were only significantly lower in grade III and IV.

astrocytoma


Input: The dramatic decrease in the frequency of finding NSD1 abnormalities in the clinical laboratory is likely because of the heterogeneity of the patient population.

abnormalities


Input: A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.

EDA

hypohidrotic ectodermal dysplasia

EDA

hypohidrotic ectodermal dysplasia


Input: Absence of MMP-2 in the host did not alter OvCa adhesion, as determined utilizing mice harboring homozygous null mutations in either the Mmp2 or Mmp9 genes.

adhesion


Input: The aim of this study was to see whether alterations of MYD88 protein expression and somatic mutation of MYD88 gene are features of common solid cancers.

MYD88 gene

somatic mutation


Input: Interestingly, previous studies have found that Ets-1-deficient mice develop lupus-like disease characterized by high titers of IgM and IgG autoantibodies, immune complex-mediated glomerulonephritis, and local activation of complement.

glomerulonephritis


Input: Inhibition of TGF-beta1 expression in human peritoneal mesothelial cells (HPMC) may provide a potential treatment for PF.

PF

PF


Input: After unexplained sporadic first trimester miscarriage, we suggest that measurements be done of the FV mutation, PAI-Fx, and factor VIII, etiologies for sporadic miscarriage.

factor VIII

miscarriage


Input: In various studies of sporadic breast cancers, 40-70% were strongly positive for fragile histidine triad (Fhit) protein expression, whereas only 18% of BRCA2 mutant breast cancers demonstrated strong Fhit expression, suggesting that the BRCA2 repair function may be necessary to retain intact fragile common chromosome fragile site 3B (FRA3B)/FHITloci.

sporadic


Input: This meta-analysis confirms that TNFSF4 polymorphisms are associated with susceptibility to SLE in Asians and Europeans.

SLE

SLE


Input: To identify whether any mutations of candidate genes including SHH, ZIC2, SIX3, and TGIF exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease.

moyamoya disease


Input: Among the alleles potentially associated with type 2 diabetes, none negatively influenced surrogate markers of insulin sensitivity in non-diabetic participants, while the minor alleles of UQCRC1 rs2228561 and COX10 rs10521253 showed a weak (p < 0. 01 to p < 0. 05) negative influence on indices of glucose-stimulated insulin secretion.

type 2 diabetes


Input: The goal of our study was to determine whether TLR4 played a role as a tumor promoter in sporadic colon cancer.

sporadic


Input: In 102 squamous cell carcinomas, high DUSP6 expression was correlated with lower ERK expression, with greater smoking pack-years, but not with the Ki-67 index.

smoking


Input: An unenveloped single-stranded DNA virus (TTV) has been reported in association with posttransfusion and acute and chronic hepatitis of unknown etiology.

TTV

chronic hepatitis


Input: Abeta alone or in combination with hypoxia/ischemia failed to stimulate ABCG2 expression in BBB endothelial cells; however, conditioned media from Abeta-activated microglia strongly induced ABCG2 expression.

ischemia


Input: The emergence of genetically assigned eosinophilias has led the World Health Organization in 2008 to adopt a semi-molecular classification scheme, with one subcategory named' myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1.'

PDGFRA

abnormalities


Input: We found sequences homologous to retroviral pol genes in the cell-free cerebrospinal fluids (CSFs) of 10 of 35 (29%) individuals with recent-onset schizophrenia or schizoaffective disorder.

pol

schizoaffective disorder

pol

schizoaffective disorder


Input: A subset of these genes specific to inflammation and cell stress was also induced by dominant negative NRF-1 and by glucose deprivation, suggesting that diverse metabolic insults converge on the same PRC-dependent inflammatory program.

PRC

inflammation


Input: The effect of FLG null-alleles was strongest for eczema (19% versus 7%, P = 0. 0003; OR 3. 3, 95% CI 1. 7-6. 6) and food allergy (28% versus 8%, P = 0. 0001; OR 4. 5, 95% CI 2. 0-10. 0).

FLG

food allergy


Input: Last, ASS1 was either low in abundance or absent in more than 60% of 149 random breast cancer biosamples, suggesting that patients with such tumors could be candidates for arginine starvation therapy.

breast cancer


Input: However, we now report an overall elevation of photoproduct repair in both melanoma groups compared to nonmelanoma controls and conclude that this accounts for the resistant melanoma phenotype, including that of enhanced PRR.

PRR

melanoma


Input: Enhanced production of CTGF and IL-11 from highly metastatic hepatoma cells under hypoxic conditions: an implication of hepatocellular carcinoma metastasis to bone.

CTGF

hypoxic


Input: TLS is carried out by low-fidelity DNA polymerases that replicate across lesions, thereby preventing genome instability at the cost of increased point mutations.

TLS

genome instability


Input: Vascular endothelial growth factor (VEGF)-2578C/A and-460C/T gene polymorphisms and lung cancer risk: a meta-analysis involving 11 case-control studies.

T gene

lung cancer


Input: Clinical measures included the DI and Health Assessment Questionnaire, and disease variables included the erythrocyte sedimentation rate, C reactive protein, rheumatoid factor, and HLA-DRB1 and DQB1 alleles.

erythrocyte sedimentation rate


Input: These results suggest a model wherein PTP expression levels may define conditions that select for ectopic FGFR3 expression and activation during tumorigenesis.

tumorigenesis


Input: The other two demonstrated new persistent neurologic deficits postictally; they both carried heterozygous POLG variants (p. Trp748Ser or p. Gly517Val).

POLG

neurologic deficits


Input: The N-terminal domain of tensin1 associates with protein phosphatase-1alpha (PP1alpha) and mediates PP1alpha localization to adhesions.

adhesions


Input: These alterations were followed by inflammation; release of profibrogenic factors, such as IL-4, insulin-like growth factor 1, and CXCL5; progressive fibrosis; and premature mortality.

inflammation


Input: Tissue of CaP and BPH tissue samples were obtained from formalin-fixed, paraffin-embedded sections by laser-captured microdissection, and then RNA was extracted. mRNA expression of TS, DPD, TP, and OPRT was analyzed by quantitative reverse transcriptase-polymerase chain reaction.

TS

CaP

TS

CaP


Input: Virally mediated overexpression of HDAC2 in frontal cortex decreased mGlu2 transcription and its electrophysiological properties, thereby increasing psychosis-like behavior.

psychosis

psychosis


Input: The height of airway inflammation and hyperresponsiveness was preceded by release of IL-4 and marked reductions in surfactant protein (SP)-B, a hydrophobic surfactant protein responsible for maintaining low surface tension of the lining fluid of distal air spaces.

inflammation


Input: We employed a hypoxic exposure in APP/PS1 transgenic mice and SH-SY5Y cells overexpressing human Swedish mutation APP (APPswe).

APP

hypoxic


Input: The production and accumulation of mutated Abeta (Asn7-Abeta) or the misfunction of D678N mutant APP may have pathogenic properties for the development of Alzheimer' s disease in this pedigree.

APP

Alzheimer' s disease

APP

Alzheimer' s disease


Input: However, PAPP-A Tg mice had 70-75% less neointima than WT at 5 and 10 days postligation, with a significant reduction in occlusion of the ligated artery.

PAPP-A

neointima


Input: Germline mutations in HRAS proto-oncogene cause Costello syndrome.

HRAS

Costello syndrome

HRAS

Costello syndrome


Input: The combination of SFN and ClF enhances these effects, resulting in an increase in cell growth arrest and apoptosis at a non-invasive breast cancer stage.

SFN

invasive breast cancer


Input: We therefore hypothesized that the major genes involved in the SREBP activation of fatty acids and cholesterol production (SREBF1, SREBF2, SCAP, INSIG1 and INSIG2) would be strong candidate genes for interindividual variation in drug-induced weight gain.

weight gain


Input: Therefore, our data provide no support for the idea that variations in OPRM1, OPRD1, PENK and POMC are associated with alcohol dependence or general illicit drug dependence, but variations in PENK and POMC appear to be associated with the narrower phenotype of opioid dependence in these families.

PENK

drug dependence


Input: Our study identified twenty genes markedly up-regulated in response to TNFα, including adhesion molecules, cytokines, chemokines, and apoptosis regulators, some of them being identified as TNF-α-inducible genes for the first time in endothelial cells (two apoptosis regulators, TNFAIP3 and TNFRSF10B/Trail R2 (DR5), the chemokines GM-CSF/CSF2 and MCF/CSF1, and CD40 and TNF-α itself, as well as NF-κB components (RELB, NFKB1 or 50/p105 and NFKB2 or p52/p100).

adhesion


Input: Under conditions in which these ligands are used at the nanomolar range, HU308 and JWH133 enhanced human and mouse breast cancer cell-induced osteoclastogenesis and exacerbated osteolysis, and these effects were attenuated in cultures obtained from CB2-deficient mice or in the presence of a CB2 receptor blocker.

CB2 receptor

osteolysis


Input: Analysis of p53 gene showed mutation only in one case of mycosis fungoides in tumoral stage, at codon 163 of p53 gene (TAC--> CAC; Tyr--> Asp).

CAC

mycosis fungoides


Input: The aim of this study is to determine the expression of CTGF and hypoxia inducible factors (HIF) in HCC and to clarify its impact on relapse and survival.

CTGF

hypoxia


Input: Some studies indicate that the Trp64Arg polymorphism in the gene encoding the beta (3)-adrenergic receptor (ADRB3) is associated with obesity, insulin resistance and earlier onset of type 2 diabetes mellitus.

insulin resistance


Input: We present two patients with SMS who have interstitial deletions at 17p11. 2 but are not deleted for currently available commercial FISH probes that include FLII; both patients have deletions that are demonstrated with probes containing the RAI1 gene.

FLII

SMS

FLII

SMS


Input: HMGA2 overexpression was found in 39% of the cases and, interestingly, positively correlated with the body mass index (BMI).

body mass index


Input: Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical consequences.

BCAA

organic aciduria


Input: The level of Ets-1 and FOXP3 mRNA was not significantly different in hyperactive and lower active SLE group when compared with inactive SLE group, respectively (P > 0. 05).

hyperactive


Input: In conclusion, the interactions between alcohol consumption and DNA methylation (CpG1 methylation) of the ADD1 gene promoter have a significant role in modifying EH susceptibility.

ADD1 gene

alcohol consumption


Input: These data indicate that the C3F allele is associated with a predisposition to the development of systemic vasculitis and that C3F homozygotes are at particularly high risk.

systemic vasculitis


Input: We designed an original DNA probe for detecting NCOA2 split signals on fluorescence in situ hybridization (FISH) and estimated its utility with 20 fibrovascular tumors: 4 each of STAs, solitary fibrous tumors (SFTs), and cellular angiofibromas and 3 each of low-grade myxofibrosarcomas, myxoid liposarcomas, and low-grade fibromyxoid sarcomas.

FISH

angiofibromas


Input: Our results suggest that lung fibroblasts tend to induce a Th1-type immune response under normal conditions, and that a Th2-type immune response does not play a significant role in smoldering inflammation around the established lesions in IPF and NSIP.

inflammation


Input: Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

fibroblast growth factor receptor 3

Hypochondroplasia

fibroblast growth factor receptor 3

Hypochondroplasia


Input: It is suggested that Caspase-3 siRNA may reduce the neurotoxicity induced by aluminum to a certain extent.

neurotoxicity

neurotoxicity


Input: Additional gain-of-function experiments revealed that miR-145 exerts an anti-proliferative effect in the primary, non-invasive melanoma cell line, WM793, whereas cell migration and the invasive potential of metastatic melanoma cells was suppressed following transfection with miR-145 mimics.

metastatic melanoma


Input: Netrin-1 transgene expression was proangiogenic and effectively reduced ischemia/reperfusion injury to preserve global heart function.

ischemia


Input: We tested the safety of an angiogenic strategy with CI-1023 (Ad (GV) VEGF121. 10), a replication-deficient adenovirus encoding human vascular endothelial growth factor isoform 121 in patients with CLI as part of a phase I trial.

CLI

adenovirus


Input: Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences.

sporadic


Input: Their expression correlated with the severity of pancreatic neuritis, fibrosis, intrapancreatic nerve fiber density and hypertrophy, pain, CP duration and with the amount of inflammatory cell infiltrate immuno-positive for CD45 and CD68.

hypertrophy


Input: Nurr1 protein in BA 9 was significantly lower in major depression (P & lt; 0. 05) and lower at a trend level in schizophrenia (P = 0. 056) than in the controls.

major depression

major depression


Input: Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

LHCGR

sporadic


Input: Microarray-based gene expression data unexpectedly demonstrated a significant number of up-or down-regulated immune-and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e. g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e. g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e. g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR.

inflammation


Input: Stratifying by amount of smoking, among subjects who consumed > 33. 5 pack-years and carried the SULT1A1 * 1/* 1 or NAT2 slow acetylator genotype, the OR was 1. 73 (95% CI 1. 01-2. 97) whereas it was 7. 31 (95% CI 1. 90-28. 05) in non-smokers who carried the homozygous wild genotype, respectively.

smoking


Input: Immunohistochemical detection of the 185-kDa transmembrane glycoprotein product of the proto-oncogene c-erbB-2 (also known as HER-2/neu), located on chromosome 17q21, is a well established method of evaluation in invasive breast cancer.

transmembrane glycoprotein

invasive breast cancer


Input: Subsequent optimization of the statins for LFA-1 binding resulted in potent, selective and orally active LFA-1 inhibitors that suppress the inflammatory response in a murine model of peritonitis.

peritonitis


Input: In this study, we report the identification of somatic TSC2 mutations in five of seven angiomyolipomas from sporadic LAM patients.

LAM

LAM


Input: Recent findings showed that BRCA1, in addition to its role in DNA damage response, acts as an upstream regulator of genes involved in the mitotic checkpoint regulation, thus protecting against promotion of aberrant divisions and aneuploidy.

aneuploidy


Input: A dominant negative Cx43 mutant differentially affects tumorigenic and invasive properties in human metastatic melanoma cells.

metastatic melanoma


Input: Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.

ACHE

breast cancer

ACHE

breast cancer


Input: However, the precise role of TG6 in contributing to SCA35 remains unclear.


Input: This work aimed to study methylation at CpG islands within the promoter of the BRCA1 and BRCA2 genes in sporadic ovarian cancers.

BRCA2 genes

sporadic


Input: We report a 78-year-old male Finnish patient who presented with ataxia and mainly sensory peripheral polyneuropathy (PNP) signs, causing severe disability and ambulation loss.

PNP

ataxia


Input: Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230).

progressive pseudorheumatoid dysplasia

progressive pseudorheumatoid dysplasia


Input: Link between GIP and osteopontin in adipose tissue and insulin resistance.

GIP

insulin resistance


Input: Moreover, C5aR expression was up-regulated following overexpression of sTNFR p55 by adenovirus-based gene transfer.

adenovirus


Input: Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.

preterm birth


Input: The combined roles of these two receptor families in the course of experimental infections have been assessed in MyD88-and IRAK-4-deficient mice for almost fifteen years.

IRAK

infections


Input: Thus, impaired HSF1 activity emerges as a critical factor underlying the phenotypes linked to aneuploidy.

aneuploidy


Input: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is caused by mutations of the autoimmune regulator gene.

autoimmune regulator

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

autoimmune regulator

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy


Input: Levels of RANTES mRNA were similar in atopic patients but they were lower in the other two groups of patients when compared with levels in healthy controls.

RANTES

atopic


Input: Defects in DNA mismatch repair (MMR) are associated with a predisposition to tumorigenesis and with drug resistance owing to high mutation rates and failure to engage DNA-damage-induced apoptosis.

MMR

tumorigenesis


Input: Iodide uptake in a panel of non-prostate tumor cell lines infected with Ad-ARR (2) PB/hNIS was no more than 2, 500 cpm, demonstrating the tissue specificity of this construct.

NIS

Ad-ARR (2

NIS

Ad-ARR (2


Input: The classifier showed a sensitivity of 89% and specificity of 84% on the validation set of known BRCA2-mutation carriers and sporadic tumor cases.

sporadic


Input: In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.

Maffucci syndrome

Maffucci syndrome


Input: We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10 (-24)), CYP1A2 (P = 1 × 10 (-23)), FGF5 (P = 1 × 10 (-21)), SH2B3 (P = 3 × 10 (-18)), MTHFR (P = 2 × 10 (-13)), c10orf107 (P = 1 × 10 (-9)), ZNF652 (P = 5 × 10 (-9)) and PLCD3 (P = 1 × 10 (-8)) genes.

diastolic blood pressure


Input: A review of the recent literature strongly suggests potential roles for CLU proteins in low dose ionizing radiation (IR)-inducible adaptive responses, bystander effects, and delayed death and genomic instability.

CLU

genomic instability


Input: Genetic alterations of the MYH gene in gastric cancer.

MYH

gastric cancer

MYH

gastric cancer


Input: The frequency of IFN-gamma AA genotype was lower in the patients with genital ulcer.

IFN

genital ulcer


Input: Cited1 deficiency suppresses intestinal tumorigenesis.

tumorigenesis


Input: Flow cytometry was used to determine transduction efficiencies in NP2/CD4/CXCR4 (glioma cell line stably transduced with the HIV receptors) and HeLa/CD4 cell lines.

glioma


Input: The expression levels of hPER1, hPER2, hPER3, hCRY1, hCRY2 and hBMAL1 were significantly impaired in both chronic phase and blastic crisis of CML cases compared with those in healthy individuals (P & lt; 0. 001).

CML

CML


Input: Particularly SIRT2 gene has been associated with Alzheimer' s disease (AD) as well as with mood disorders.

mood disorders

mood disorders


Input: Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Adams-Oliver Syndrome

Adams-Oliver Syndrome


Input: This review tries to survey the expression patterns of inducible transcription factors (ITFs) of the Jun (c-Jun, JunB, JunD) and Fos (c-Fos, FosB, Fra) families as well as of zinc finger proteins (Krox-20 and Krox-24) and their mRNAs following ischemia, epileptic seizures, hypoglycemia, axotomy and (programmed) neuronal death in the mammalian brain.

FosB

hypoglycemia


Input: In 18 cases EWS/FLI1 translocation was examined using the FISH method.

EWS

translocation


Input: PMN were manipulated in the following four ways: (1) inhibition of oxygen-free radicals using manganese superoxide dismutase and catalase (SOD/CAT), (2) antagonism of PMN elastase using secretory leukocyte protease inhibitor (SLPI), (3) neutropenia using PMN antisera, and (4) inhibition of activation and adhesion using interleukin-1 receptor antagonist (IL-1ra) and tumor necrosis factor binding protein (TNFbp).

manganese superoxide dismutase

neutropenia


Input: Uninvolved colonic mucosa in FAP patients, control patients, and patients with sporadic tumors did not stain for p53.

sporadic


Input: Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway.

PMVK

PK

PMVK

PK


Input: Most of the sporadic and BRCA1-and BRCA2-associated cancers displayed an irregular shape (91. 2%, 93. 3%, and 83. 3%, respectively).

sporadic


Input: IL-13, RANTES (Regulated on Activation, Normal T cells Expressed and Secreted), and cysteinyl leukotrienes are asthma and atopy mediators.

atopy


Input: Transgenic expression of an activated Foxm1 transcript in AECs enhanced radiation-induced pneumonitis and pulmonary fibrosis, and increased the expression of IL-1β, Ccl2, Cxcl5, Snail1, Zeb1, Zeb2 and Foxf1.

pulmonary fibrosis


Input: Pentoxifylline attenuated proteinuria and nephrinuria through the course, plus inhibition of p-NF-κB p65 (d 1) and p-Smad2/3 (d 5) and partial reversal of downregulated podocyte mRNA and protein.

NF-κB

proteinuria


Input: Of 13 genes related to cellular metabolism, aldolase A (ALDOA), sorbitol dehydrogenase (SORD), transketolase (TKT), and tuberous sclerosis 1 (TSC1) were related to glucose metabolism.

ALDOA

tuberous sclerosis 1


Input: Galectin-9 (Gal-9) is a β-galactosidase-binding lectin that promotes apoptosis, tissue inflammation, and T cell immune exhaustion, and alters HIV infection in part through engagement with the T cell immunoglobulin mucin domain-3 (Tim-3) receptor and protein disulfide isomerases (PDI).

PDI

inflammation


Input: Novel assays based on the use of the suicide repair enzyme O6-alkylguanine-DNA-alkyltransferase (AGT) to repair O6-alkylguanine-type adducts in DNA have been used for the analysis of extracts of human biopsy specimens of gastric mucosa, urinary bladder mucosa, colon and circulating lymphocytes.

AGT

suicide


Input: Given that a history of ethanol intoxication may increase vulnerability to alcohol addiction, we sought to determine whether NPS receptor (NPSR) gene expression is altered during withdrawal.

NPS

alcohol addiction

NPS

alcohol addiction


Input: Recent findings support the " ADK hypothesis of epileptogenesis ": (i) Mouse models of epileptogenesis suggest a sequence of events leading from initial downregulation of ADK and elevation of ambient adenosine as an acute protective response, to changes in astrocytic adenosine receptor expression, to astrocyte proliferation and hypertrophy (i. e.

ADK

hypertrophy


Input: In the present study, we examined immunohistochemically the CDN in ten patients with clinicopathologically and genetically confirmed DRPLA and the spinal anterior horns in five patients with sporadic ALS, using a monoclonal antibody (1C2) directed against long polyglutamine stretches.

CDN

sporadic


Input: p63 is a transcription factor homologous to p53 and p73; mutations in this gene have been identified in individuals with several types of developmental abnormalities, including EEC (ectrodactyly, ectodermal dysplasia, facial clefts) syndrome and split-hand/split-foot malformation (SHFM).

facial clefts


Input: Multiple infections were more common among women with no (32%) or LSIL (51%) [versus 23% in high-grade SIL/cancer], partially explaining the lack of a dose response using a cumulative HC2 viral load measure.

infections


Input: KDM2A promotes lung tumorigenesis by epigenetically enhancing ERK1/2 signaling.

tumorigenesis


Input: Hepatosplenic T-cell lymphoma (HSTL) is an aggressive lymphoma cytogenetically characterized by isochromosome 7q [i (7) (q10)], of which the molecular consequences remain unknown.

aggressive lymphoma


Input: It therefore seems unlikely that such abnormalities of NSD1 are a major culprit in patients with phenotypical SoS.

abnormalities


Input: Interestingly, amyloid-β (Aβ) soluble oligomers were able to induce upregulation of VDAC1 in a human neuroblastoma cell line, further supporting a correlation between Aβ levels and VDAC1 expression.

amyloid


Input: Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.

Epidermolytic palmoplantar keratoderma

Epidermolytic palmoplantar keratoderma


Input: Antisense oligonucleotides (oligos) against transforming growth factor-alpha (TGF-alpha; MR (1)) and its binding site, the epidermal growth factor receptor (EGFR; MR (2)), have proven efficacious against PC-3 and LNCaP prostate tumors when evaluated in both in vitro and in vivo models.

transforming growth factor-alpha

prostate tumors

transforming growth factor-alpha

prostate tumors


Input: For tumorigenesis studies of genetically modified adrenocortical cells, we use RAG2 (-/-), gammac (-/-) mice.

tumorigenesis


Input: The CB1 receptor controls spasticity and cross-reactivity to this receptor appears to account for the therapeutic action of some CB2 agonists.

spasticity

spasticity


Input: As for viral infections other than CMV, and for bacterial infections, no KIR-linked protective effect could be detected.

KIR

bacterial infections


Input: Cultured cells treated with PPARgamma ligands demonstrated an increase in Ca (2 +)-independent, carcinoembryonic antigen-dependent homotypic aggregation, suggesting a potential role for PPARgamma in regulating intercellular adhesion.

carcinoembryonic antigen

adhesion


Input: Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

Leber congenital amaurosis

Leber congenital amaurosis


Input: We previously reported that hypoxia and restraint during pregnancy sensitized the hypothalamic-pituitary-adrenal (HPA) axis and induced anxiety-like behavior in the adult offspring.

HPA

hypoxia


Input: There were no differences in age, birthweight, blood pressure, body mass index, percent body fat, total energy, percentage of macronutrient intake, microalbumin, leptin, cortisol, adrenocorticotropic hormone, nitric oxide metabolites, C-reactive protein, homocysteine, tumor necrosis factor-α, interleukin-6, von Willebrand factor, vascular cell adhesion molecule-1, plasminogen activator inhibitor-1, and tissue plasminogen activator.

von Willebrand factor

blood pressure


Input: WAT of HSL-/-mice exhibited a 15-fold increase in necrotic-like adipocyte death and formation of macrophage syncytia, coincident with increased tumor necrosis factor-alpha gene expression.

HSL

necrotic


Input: FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

BPES

BPES


Input: HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.

beryllium disease

beryllium disease


Input: The aim of this study was to test the hypothesis that TL1A may play an important role in inflammatory bowel disease (IBD) by functioning as a Th1-polarizing cytokine.

inflammatory bowel disease


Input: The prevalence of SLC26A4 mutations in Pendred' s syndrome is clearly established in many ethnic groups, but the data from Mainland Chinese patients with deafness and EVA remain poor.

EVA

deafness


Input: To confirm this association, the distribution of the single-nucleotide polymorphism C677T was investigated in idiopathic infertile Algerian patients with nonobstructive azoospermia (NOA) or severe oligoasthenoteratozoospermia (OAT).

OAT

infertile


Input: Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wiedemann-Rautenstrauch Syndrome

Wiedemann-Rautenstrauch Syndrome


Input: In the present study, we investigated the expression of MLN64 in prostate cancer, another hormone-dependent tumor, and compared its expression with that of CYP17, the gene encoding for the key enzyme of androgen synthesis.

prostate cancer

prostate cancer


Input: Furthermore, Northern analysis revealed that the ratios of Gq alpha/GAPDH mRNA abundance in both scar and viable tissues from experimental hearts were significantly increased versus controls.

GAPDH

scar


Input: A diagnostically difficult case of chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA effectively treated with imatinib in accelerated phase: case report.

PDGFRA

abnormalities


Input: We show that a gene transfer approach using recombinant adenovirus to express IL-15 and IL-15Rα in murine TRAMP-C2 prostate or TS/A breast tumors induced antitumor immune responses.

TRAMP

breast tumors


Input: These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder.

BBS

BBS


Input: Keratoendotheliitis fugax hereditaria is an autoinflammatory cryopyrin-associated periodic syndrome caused by a missense mutation c. 61G & gt; C in exon 1 of NLRP3 in Finnish patients.

Keratoendotheliitis fugax hereditaria

Keratoendotheliitis fugax hereditaria


Input: Serial cross-sections of 45 human carotid plaques were immunohistochemically analyzed for the presence of CTGF protein, neovascularization (von Willebrand factor), macrophages (CD68), and T cells (CD3).

von Willebrand factor

neovascularization


Input: Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis.

RET

bilateral renal agenesis

RET

bilateral renal agenesis


Input: We then screened for this mutation in subcloned NLRP3 amplicons from fibroblasts, buccal cells, granulocytes, negatively selected monocytes, and T and B lymphocytes and further confirmed the somatic mutation by targeted sequencing of exon 3.

somatic mutation


Input: The results of this study therefore indicate an imbalance in the levels of Th1 and Th2 cytokines at the site of inflammation in RA, and draw attention to the possibility of treatment of progressive or intractable RA with IL-4 and/or IL-10.

inflammation


Input: To determine the prevalence of PINK1 mutation in Taiwanese population, we conducted genetic analysis of PINK1 mutation in 73 early onset sporadic PD and 94 normal control subjects.

sporadic


Input: Semiquantitative analysis of Th1 and Th2 cytokine expression in CD3 +, CD4 +, and CD8 + renal-cell-carcinoma-infiltrating lymphocytes.

carcinoma


Input: ARNTL2 and SERPINE1: potential biomarkers for tumor aggressiveness in colorectal cancer.

aggressiveness


Input: NR5A1 is a novel disease gene for 46, XX testicular and ovotesticular disorders of sex development.

ovotesticular disorders of sex development

ovotesticular disorders of sex development


Input: BV6 and TMZ synergistically reduce cell viability and trigger apoptosis in glioblastoma cells (combination index < 0. 4-0. 8), which is accompanied by increased loss of mitochondrial-membrane potential, cytochrome c release, caspase activation and caspase-dependent apoptosis.

cytochrome c

glioblastoma


Input: A collection of 38 paraffin-embedded apparently sporadic carcinoids was investigated, through a combined study, for protein expression/localization of menin, p53, β-catenin and E-cadherin and for mutational analysis of the MEN1, TP53 and CTNNB1 genes.

sporadic


Input: In addition, treatment of Hbb (th1/th1) mice with RAP-536 reduced α-globin aggregates in peripheral red cells, decreased the elevated reactive oxygen species present in erythroid precursors and peripheral red cells, and alleviated anemia by promoting differentiation of late-stage erythroid precursors and reducing hemolysis.

hemolysis


Input: These results confirm that ITGB4 mutations underlie EB-PA and show that missense mutations may lead to nonlethal phenotypes.

EB-PA

EB-PA


Input: Our findings indicate that activating HRAS, KRAS and EGFR mutations play a major role in the pathogenesis of sporadic SGH.

EGFR

sporadic


Input: p53 and SCFFbw7 cooperatively restrain cyclin E-associated genome instability.

cyclin E

genome instability


Input: Immunoprecipitation assays confirmed biochemical binding of Ndfip1 with Nedd4-2 in the brain, with or without ischemic stroke, indicating their endogenous interaction.

ischemic stroke


Input: A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Schinzel phocomelia syndrome

Schinzel phocomelia syndrome


Input: It is notable that ER stress upregulates the potent lipid-mediator sphingosine-1-phosphate (S1P), which explains multiple pathological aberrations observed in rosacea skin.

rosacea


Input: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Bosma arhinia microphthalmia syndrome

Bosma arhinia microphthalmia syndrome


Input: Our results clearly showed the significance of RACK1-induced OSCC cell migration, invasion and adhesion, which could explain the underlined mechanism of the effect of the gene on metastasis and clinical outcome.

adhesion


Input: miR-615-5p is restrictedly expressed in cirrhotic and cancerous liver tissues and its overexpression alleviates the tumorigenic effects in hepatocellular carcinoma.

hepatocellular carcinoma

hepatocellular carcinoma


Input: Gene expression profile of ECs subjected to heat shock demonstrates that plasminogen activator inhibitor 1 (PAI-1), a protein involved in the control of extracellular matrix degradation, is specifically up-regulated.

plasminogen activator inhibitor 1

shock


Input: To explore human epidermal growth factor receptor 2 (HER2) status in the histological phenotypes [metaplasia, intraepithelial neoplasia (IEN, i. e.

metaplasia


Input: In addition to literature data on KYN/TRY ratio (IDO activity index), we observe neopterin levels (index of activity of rate-limiting enzyme of guanine-BH4 pathway) to be higher in carriers of high (T) than of low (A) producers alleles; and to correlate with AAMPD markers (e. g., insulin resistance, body mass index, mortality risk), and with IFN-alpha-induced depression in hepatitis C patients.

IFN-alpha

insulin resistance


Input: Increased NO contributes to the blunted hypoxic pressor response (HPR) during cirrhosis and may induce heme oxygenase-1 (HO-1) expression and carbon monoxide (CO) production, exacerbating the blunted HPR.

HPR

hypoxic


Input: CD97, a member of the adhesion family of G-protein-coupled receptors (GPCRs), complexes with and potentiates lysophosphatidic acid (LPA) receptor signaling to the downstream effector RHOA.

RHOA

adhesion


Input: Six proteins were found to significantly differ among the four treatment groups, with Δ9-THC and ovariectomy (OVX) decreasing the mitochondrial proteins, pyruvate carboxylase and NADH dehydrogenase, whereas the levels of putative cytosolic molecular chaperones NM23B, translationally controlled tumor protein, DJ-1 and activator of heat-shock 90kDa protein ATPase homolog 1 (AHA1) were increased.

pyruvate carboxylase

shock


Input: Urotensin II is a highly conserved undecapeptide which is well represented in the nervous system, heart and kidney.

Urotensin II

nervous system


Input: A prospective, nonrandomised human subject study was also conducted, in which OPG levels and coronary artery calcification (CAC) were measured in a type 2 diabetes population before and 16 months after the commencement of either insulin or liraglutide treatment and in a control group that took oral hypoglycemics only.

CAC

coronary artery calcification


Input: In cultured human endothelial cells, Reelin enhanced monocyte adhesion and increased ICAM1, VCAM1, and E-selectin expression by suppressing endothelial nitric oxide synthase (eNOS) activity and increasing nuclear factor κB (NF-κB) activity in an Apoer2-dependent manner.

NF-κB

adhesion


Input: Flow cytometric analysis of CD4 + T cells also demonstrated a decreased frequency of FoxP3 + cells in the BALF and blood of sarcoidosis patients as well as a reduced intensity (mean fluorescence intensity) of FoxP3 expression in BALF FoxP3 + cells of patients.

sarcoidosis


Input: Metastasis-associated C4. 4A, which becomes upregulated during wound healing and, in some tumors, during tumor progression, is known to be frequently associated with hypoxia.

C4. 4A

hypoxia


Input: The RAGE exon 3 genotype was assessed by Denaturing Gradient Gel Electrophoresis (DGGE) procedure in 487 type 1 diabetic patients with proliferative retinopathy subdivided into four groups according to their level of renal involvement and in 351 control subjects (GENEDIAB study).

RAGE

proliferative retinopathy


Input: Blockade of insulin-like growth factor (IGF)-I and IGF-IR by antisense or dominant negative plasmid transfection can suppress tumorigenicity and induce regression of established tumors.

IGF

regression


Input: The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms.

sporadic


Input: We measured circulating inflammatory and thrombotic markers (C-reactive protein, interleukin-6, monocyte chemoattractant protein 1, intracellular cell adhesion molecule 1, soluble tumor necrosis factor-α receptor 1, and soluble p-selectin) and analyzed TLRs and their association with sex and cardiovascular risk factors by multivariable logit regression model adjusted for confounding factors.

cell adhesion molecule 1

regression


Input: Most of the patients over-expressing MDM2 gene had poor prognostic features (including' unfavourable' cytogenetic abnormalities), poor response to chemotherapy and short survival.

MDM2 gene

cytogenetic abnormalities


Input: LDL levels in the hyperlipidemia PST group was statistical significant higher (P < 0. 001) and we observed an association between Apo E allelic distribution and LDL (P = 0. 005).

PST

hyperlipidemia


Input: We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.

HEXA

TSD

HEXA

TSD


Input: with wild-type GPR10), but did not suppress that of the OLETF strain, indicating that GPR10 is without function and could explain hyperphagia in the OLETF strain.

hyperphagia


Input: The normal function of Omi/HtrA2 in the mitochondria and how its deregulation causes neurodegeneration or premature aging are unknown.

neurodegeneration


Input: In both cases, IFN-alpha markedly inhibited IL-5 production while it induced mild upregulation of IL-4 and IL-10.

mild


Input: Behcet' s disease (BD), Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU), and birdshot chorioretinopathy (BCR) are examples of noninfectious forms of uveitis.

BCR

birdshot chorioretinopathy


Input: Whereas retrovirus-forced expression of WSB1 isoforms 1 and 2 promoted cell growth and sensitized the cells to gemcitabine-and doxorubicin-induced apoptosis, WSB1 isoform 3 expression reduced cell proliferation and enhanced resistance to apoptosis, showing that stress-induced modulation of WSB1 alternative splicing increases resistance to apoptosis of pancreatic cancer cells.

pancreatic cancer


Input: If the diagnostic cutoff value of ANXA2 level was more than 18 ng/mL, the incidence of serum ANXA2 was 86. 96% in the HCC group, 80% in the metastatic liver cancer group, 31. 58% in the liver cirrhosis group, none in the chronic hepatitis or acute hepatitis or normal control group, respectively.

HCC

chronic hepatitis


Input: This study investigated whether and how MTA1 mediated cell proliferation, migration, invasion and adhesion in cervical cancer.

adhesion


Input: Further analysis revealed that the role AR plays in adhesion of HCC cells is governed, at least in part, by its ability to up-regulate β1-integrin and activate the PI3K/AKT pathway.

AKT

adhesion


Input: We have previously shown that susceptibility to HSE was host-strain dependent, as severe, lethal HSE developed after injection of human Herpes simplex type 1 virus (HSV-1) into the whiskers area of DA rats, whereas PVG rats remained completely asymptomatic.

HSE

asymptomatic


Input: The third member of the transforming acidic coiled coil-containing gene family, TACC3, maps in 4p16, close to translocation breakpoints in multiple myeloma, and is upregulated in various cancer cell lines.

translocation


Input: We investigated the association of colorectal adenoma with 19 single nucleotide polymorphisms in a range of important proinflammatory (IL1B, IL6, IL8, TNF, and LTA) and anti-inflammatory (IL4, IL10, and IL13) cytokines and other inflammation-related genes (PTGS2 and PPARG) in a case-control study of risk factors for colorectal polyps in which all participants (ages 18-74 years) had undergone colonoscopy or sigmoidoscopy.

inflammation


Input: To investigate this hypothesis, we examined proliferative activity, degree of apoptosis, beta-catenin expression and p53 expression in syndromic and sporadic FGPs.

sporadic


Input: Calcitonin (CT), a 32 amino acid peptide hormone produced primarily by the thyroid, and its receptor (CTR) are well known for their ability to regulate osteoclast mediated bone resorption and enhance Ca2 + excretion by the kidney.

CTR

bone resorption


Input: CHIT expression differed markedly in livers from normal controls and in those from patients with simple steatosis or non-alcoholic steatohepatitis.

CHIT

alcoholic steatohepatitis


Input: Treatment of K-ras-transformed cells with bortezomib resulted in translocation of MST1 from cytoplasm into the nucleus and an increase of phosphorylated histone H2B and histone H2AX.

translocation


Input: This study implicates Prdm14 as a proto-oncogene involved in lymphoblastic lymphoma formation.

lymphoblastic lymphoma

lymphoblastic lymphoma


Input: Four male sudden cardiac arrest survivors had intronic variant (rs11720524) in SCN5A gene.

SCN5A gene

sudden cardiac arrest


Input: Antisense inhibition of ICER significantly enhanced beta-adrenergic hypertrophy, whereas it significantly inhibited beta-adrenergic cardiac myocyte apoptosis, suggesting that endogenous ICER works as an important regulator of cardiac hypertrophy and apoptosis.

ICER

hypertrophy

ICER

hypertrophy


Input: Fifteen of the 20 genes were methylated in more than one of 21 primary breast cancers in Stages I or II, and especially, those of LOC346978, HOXD11, SIM1, PCDHGB6 and FLJ25161 were methylated in more than 10 cancers.

breast cancers

breast cancers


Input: Interestingly, there was a relationship between the A2A/β-actin ratio and motor disturbances as assessed with some items of the PANSS, AIMS and SAS scales.

SAS

motor disturbances


Input: Cellular prion protein (PrP (C)), a copper-binding glycosyl-phosphatidylinositol (GPI)-anchored membrane protein that is expressed predominantly in neurons can be induced in ischemia/hypoxic brain tissues.

prion protein

ischemia


Input: The finding of this study is the association of the Thr54/Ala54 and Thr54/Thr54 FABP2 phenotypes with higher levels of C-reactive protein without relation to insulin resistance.

C-reactive protein

insulin resistance


Input: These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: 1. TREM-1 gene expression was increased in the monocytes of SCZ and BD patients and tended to be increased in the monocytes of MDD patients. 2.

SCZ

SCZ


Input: Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Our study indicates that metastatic breast cancer cells in the bone microenvironment attached to type I collagen, which stimulated integrins α1β1 and α2β1, via FAK and p38 MAPK pathways, to induce MMP13 expression and further osteolysis.

osteolysis


Input: Our study was aimed at investigating the effects of hypoxia and CCN2 on chordoma cells, using the human U-CH1 cell line.

hypoxia


Input: The findings of this study suggest that the NAT2 slow acetylator haplotype, female sex, and smoking are important determinants of susceptibility to ADRs induced by anti-TB drugs.

smoking


Input: To explain the discrepancy between the frequent occurrence of disease-associated somatically mutated CD5 + B cells and the low incidence or absence of somatic mutation in normal CD5 + B cells, we speculate that CD5 + B cells usually do not participate in germinal center reactions, but if they occasionally do so, they may be at an increased risk to become involved in autoimmune diseases or B cell malignancies.

autoimmune diseases


Input: Also, under a hypoxic condition, which is a typical environment of tumor tissue, Cx32 suppressed hypoxia-induced Src activation, and PP1 enhanced cytotoxicity in Caki-1T.

hypoxia


Input: Clinical features in the four CDH11 mutation-positive individuals confirm the established core phenotype of EWS.

EWS

EWS


Input: S100B rs9722 C & gt; T polymorphism appears not to be an important factor in susceptibility to MDD in a Chinese population.

MDD

MDD


Input: The fusion oncoproteins in many other translocation-associated sarcomas incorporate transcription factors from the ATF/cAMP response element binding or E26 families, which potentially form heterodimers with ATF2 to regulate transcription.

sarcomas


Input: Up-regulation of specific NF 1 gene transcripts in sporadic pilocytic astrocytomas.

NF 1 gene

sporadic


Input: Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.

cyst


Input: Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

pyruvate dehydrogenase complex deficiency

pyruvate dehydrogenase complex deficiency


Input: Using models of placental hypoxia, pharmacological inhibition of HIF-1α with chetomin and shRNA knockdown and overexpression of NFAT5 were performed to investigate the roles of HIF-1α and NFAT5 in induction of Hsp70 by placental hypoxia.

hypoxia


Input: Additionally, in a cohort of 17 patients with isolated intrauterine and postnatal growth retardation, we detected a further patient to be carrier of a CSH1 deletion.

postnatal growth retardation


Input: Logistic regression analysis revealed that the CC genotype of the rs11720524 polymorphism in the SCN5A gene encoding a subunit of the cardiac voltage-gated sodium channel occurred more frequently in the highly heterogeneous cardiac death cohort compared to the control population (p = 0. 019, odds ratio: 1. 351).

SCN5A gene

cardiac death


Input: As these studies concerned sporadic cancer cases, we investigated whether N372H and another common variant located in the 5'-untranslated region (203G > A) of the BRCA2 gene modify breast or ovarian cancer risk in BRCA1 mutation carriers.

BRCA2 gene

sporadic


Input: To gain further understanding of how Hsa21 contributes to hematopoietic abnormalities, we examined the Tc1 mouse model of DS, which carries an almost complete freely segregating copy of Hsa21, and is the most complete model of DS available.

abnormalities


Input: Treatment of glioma cell lines with 5-aza-2'-deoxycytidine and trichostatin A resulted in increased expression of AMOG and APOD transcripts.

APOD

glioma

APOD

glioma


Input: The overall pattern of the identified pathological characteristics suggests a carcinogenic pathway in BRCA1-and BRCA2-related breast cancers different from that found in sporadic cases.

sporadic


Input: Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

breast cancer

breast cancer


Input: Only AOM-treated Chrm3 (-/-) mice developed ascites and had reduced survival compared with AOM-treated wild-type controls.

ascites

ascites


Input: Nuclear membranous localization of ABCC2 was associated with response to first-line chemotherapy at primary (P = 0. 0013) and secondary surgery (P = 0. 0060).

secondary


Input: We assessed the ability of FTS to reverse the transformed phenotype of neurofibromatosis type 1 (NF1)-associated tumor cell lines of malignant peripheral nerve sheath tumor (MPNST).

FTS

neurofibromatosis type 1


Input: Haplotypes that included DDX39B (-22C > G and-348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels.

ACT

mild


Input: Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome


Input: These genes included SELP, CCL2, and matrix metalloproteinase 3, which are involved in extravasation and adhesion of inflammatory cells.

matrix metalloproteinase 3

adhesion


Input: The gene encoding beta2-AR (ADRB2) displays a moderate degree of heterogeneity in the human population and the distributions of single-nucleotide polymorphisms (SNPs) at amino acid positions 16, 27, and 164 are changed in asthma, obesity, and hypertension and in the autoimmune disease myasthenia gravis.

myasthenia gravis


Input: mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects.

major depression

major depression


Input: A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).


Input: Taken together, these data unravel FABP4 as a potential target of pathologic airway remodeling in asthma.

airway remodeling


Input: Conversely, using NDGA, it was found that a shunt of AA from the LOX to the COX pathway did not occur.

LOX

shunt


Input: Our objective was to investigate the relationship of polymorphism of IL-1RN and IL-4, two important biomarkers of inflammation, with the risk of T2DM.

inflammation


Input: Hypertrophic Cardiomyopathy (HCM) is a common primary cardiac disorder defined by a hypertrophied left ventricle, is one of the main causes of sudden death in young athletes, and has been associated with mutations in most sarcomeric proteins (tropomyosin, troponin T and I, and actin, etc.).

troponin T

cardiac disorder


Input: Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.

hyperalgesia

hyperalgesia


Input: The classical paradigm of liver injury asserts that hepatic stellate cells (HSC) produce, remodel and turnover the abnormal extracellular matrix (ECM) of fibrosis via matrix metalloproteinases (MMPs).

ECM

fibrosis


Input: Downregulation of the endogenous inhibitor of MMP-9, tissue inhibitor of metalloproteinase 1, and translocation of the transcription factor nuclear factor-κΒ in tumors may have an appreciable role in the overexpression of MMP-9.

tissue inhibitor of metalloproteinase 1

translocation


Input: Prediction of mRNA and protein secondary structures revealed that two changes lead to putative structural alterations in the mutated c. 2254C > G CDK5R1 3' UTR and in OMG T408A gene product.

OMG

secondary


Input: The allele frequency in these patients was C3S 0. 71, C3F 0. 29 (expected C3S 0. 8, C3F 0. 19; chi-squared = 5. 1, P < 0. 025), with the average relative risk for the development of systemic vasculitis associated with the presence of a C3F allele being 2. 6.

systemic vasculitis


Input: DR2, DR9, and DRB1 * 0103 were positively associated with ulcerative colitis, and a negative association was found for DR4 and ulcerative colitis.

ulcerative colitis


Input: Notably, Setleis syndrome patients and Twist2 knockout mice have similar facial features, indicating the gene' s conserved role in mammalian development.

Setleis syndrome

Setleis syndrome


Input: Increased APLP1 expression and neurodegeneration in the frontal cortex of manganese-exposed non-human primates.

neurodegeneration


Input: The GSTT1, GSTT2B and GSTP1 variants were genotyped in 562 OSCC cases and 907 controls, and tested for association with OSCC and for interaction with smoking and alcohol consumption.

alcohol consumption


Input: The frequency of the whole haplotype Cw5, B18, BfF1, DR3 and of its segment BfF1, DR3, and the strength of the gametic associations between these alleles were much higher in IDD patients than in non-diabetic controls, irrespective of the age of onset of their diabetes.

diabetes


Input: Inhibition of Rac1, induced by transfecting adenovirus vectors encoding dominant-negative Rac1 into the NTS, decreased blood pressure, heart rate, and urinary norepinephrine excretion in SHRSPs but not in Wistar-Kyoto rats.

NTS

adenovirus


Input: ALK gene amplified in most inflammatory breast cancers.

ALK

inflammatory breast cancers

ALK

inflammatory breast cancers


Input: We describe here a systematic analysis of the EPM2A and the NHLRC1 gene sequences in 20 LD families from the Indian population.

LD

LD


Input: CONCLUSIONS: Our results suggest that the codon 72 SNP which results in amino acid substitution of Arginine to Proline in cell cycle regulatory gene P53, is associated with sporadic CRC risk and carriers of Pro/Pro genotype and more than 50 years old may have high susceptibility.

gene P53

sporadic


Input: PKCtheta induced c-Rel activity and target gene expression and promoted growth of c-Rel-and c-RelxCK2alpha-driven mouse mammary tumor-derived cell lines.

c-Rel

mammary tumor


Input: The relationship between CDP and PKU, both of which can cause short statue and mental retardation, is discussed.

CDP

mental retardation


Input: Increased CD4 + and CD8 + cells in peripheral blood combined with preemptive therapy may reduce the incidence of pneumonia among patients with CMV viremia.

viremia


Input: Considering that nerve growth factor exerts beneficial effects in the treatment of major central and peripheral neurodegenerative diseases, skin and corneal ulcers, we asked whether nerve growth factor could also exert a role in Cyclosporine A-induced graft nephrotoxicity.

nerve growth factor

corneal ulcers

nerve growth factor

corneal ulcers


Input: We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene.

LHON

LHON


Input: The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer.

sporadic


Input: These results indicate for the first time that hypercholesterolemia may be associated with MLCK expression and activity through which endothelial permeability is increased.

MLCK

hypercholesterolemia

MLCK

hypercholesterolemia


Input: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Behr syndrome

Behr syndrome


Input: IFN-alpha exerts beneficial therapeutic effects in chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia, resulting in control of hematopoietic hyperplasia and, in a minority of patients, in induction of cytogenetic remission.

IFN-alpha

hyperplasia


Input: A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

CRX

cone-rod dystrophy

CRX

cone-rod dystrophy


Input: We investigated HIV-1 replication in CD14 (+) monocytes and resting and activated CD4 (+) T cells by measuring the levels of cell-associated viral DNA and mRNA and the genetic evolution of HIV-1 in seven acutely infected patients whose plasma viremia had been < 100 copies/ml for 803 to 1, 544 days during highly active antiretroviral therapy (HAART).

viremia


Input: CMV vector and VACM-1 cDNA stably transfected T47D breast cancer-derived cells were treated with resveratrol and cell growth and VACM-1 protein concentrations were measured.

breast cancer

breast cancer


Input: Reverse transcription-polymerase chain reaction (RT-PCR) analysis revealed that hTR and TPI mRNA were expressed in more than 80% of ovarian cancers, LPM, ovarian cysts and even in normal ovaries.

TPI

ovarian cysts


Input: Since transgene expression via replication-deficient adenovirus vectors in vivo is low, we have also engineered a conditionally replicating E1A-CR2 deleted adenovirus to express mutant CD40L, resulting in significant amplification of ligand expression and consequent enhancement of its therapeutic effect.

adenovirus


Input: The major findings regarding the genetics of stress response and stress-related disorders are: (i) variations in genes involved in the sympathetic system or in the hypothalamic-pituitary-adrenocortical axis are associated with altered stress responses; (ii) genes related to the renin-angiotensin-aldosterone system or inflammation/immune response show associations with cardiovascular disorders; (iii) genes involved in monoaminergic neurotransmitter systems are associated with bipolar disorder and unipolar depression.

renin

bipolar disorder

renin

bipolar disorder


Input: ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

ISPD

Walker-Warburg syndrome

ISPD

Walker-Warburg syndrome


Input: CONCLUSION: The genetic variants that regulate estimated GFR in the general population tend to have similar effects in patients with Type 2 diabetes and in this latter population, it is important to adjust for albuminuria status while investigating the genetic determinants of renal function.

GFR

albuminuria


Input: Therefore, CARM1 is an important positive modulator of Wnt/β-catenin transcription and neoplastic transformation, and may thereby represent a novel target for therapeutic intervention in cancers involving aberrantly activated Wnt/β-catenin signaling.

neoplastic transformation


Input: In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrP = 1. 71 × 10 (-5)), long-segment (L-HSCR, corrP = 6. 66 × 10 (-4)), and total colonic aganglionosis (TCA, corrP > 0. 05).

total colonic aganglionosis


Input: There is a mutually synergistic effect between smoking, alcohol consumption, and CYP1B1 gene polymorphisms regarding laryngeal cancer.

CYP1B1 gene

smoking


Input: Since astrocytomas are the most frequently occurring glioma, we have shown here that U87 cells-a well-established, human astrocytoma cell line-express both HGF and c-Met, thereby providing a suitable astrocytic tumor model for studying the potential role of HGF, functioning in an autocrine mode, in astrocytic tumorigenesis.

astrocytic tumor


Input: Absence of the wild-type allele (192 base pairs) of a polymorphism in the promoter region of the IGF-I gene but not a polymorphism in the insulin gene variable number of tandem repeat locus is associated with accelerated weight gain in infancy.

IGF-I

weight gain


Input: Through modulating Fis1/Drp1 complex availability, our studies identify Siah2 as a key regulator of hypoxia-induced mitochondrial fission and its physiological significance in ischemic injury and nematode life span.

hypoxia


Input: Here, we aimed to investigate DBC1 mRNA and protein levels in human adipose tissue from subjects with a wide spectrum of fat mass (cohort 1; n = 105) and insulin resistance (cohort 2; n = 47); we also investigated the effects of DBC1 knockdown on 3T3-L1 adipocyte differentiation.

insulin resistance


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

FOS

hypoxia


Input: CEA has been involved in vitro in adhesion mechanisms, but little is known about the function of this glycoprotein in vivo in normal tissue differentiation and malignancy.

CEA

adhesion


Input: We have now investigated the expression of this gene in 64 colorectal carcinomas, 31 adenomas and 13 polyps in comparison with their matrix tissues by applying molecular (RNA analysis) and immunohistochemical (pS2 antibody) techniques.

polyps


Input: It may be that genetically determined IL1RA levels influence survival from septic shock.

septic shock


Input: Twenty-eight out of forty-seven cases of parosteal osteosarcoma showed nuclear IGF2 and IMP3 expression, nine showed cytoplasmic IGF2 and IMP3 expression simultaneously.

parosteal osteosarcoma


Input: We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p. C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML.

CBL

uniparental disomy


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

CCNH

ovarian cancer

CCNH

ovarian cancer


Input: Deep vein thrombosis occurring on treatment of patients receiving thalidomide with erythropoietin.

erythropoietin

Deep vein thrombosis

erythropoietin

Deep vein thrombosis


Input: Clinical chemistry and tissue pathology analyses showed that adenoviral EC-SOD gene transfer significantly attenuated release of liver enzymes and inhibited necrosis and apoptosis caused by paracetamol overdose.

EC-SOD

necrosis

EC-SOD

necrosis


Input: We propose that the mutation in VEGFC is causative for the Milroy disease-like phenotype seen in this family.

VEGFC

Milroy disease

VEGFC

Milroy disease


Input: Zebrafish cfap53 mutants have specific defects in organ laterality and randomization of asymmetric gene expression.

laterality


Input: Depletion of geminin led to overreplication and the formation of giant nuclei in cells that had wild-type or mutant p53.

geminin

giant


Input: Our results show significantly (p < 0. 001) higher expression of CCR9 by mucinous adenocarcinoma, papillary serous carcinoma, and endometriod ovarian carcinoma cases, than compared to non-neoplastic ovarian tissue.

mucinous adenocarcinoma


Input: The occurrence of APP duplication in probands from 25 families with FAD and 11 sporadic EO-AD cases in the Japanese population was examined by quantitative PCR and microarray-based comparative genomic hybridisation analyses.

FAD

sporadic


Input: Pituitary may be normal or enlarged at MRI which may be difficult to interpret especially in MEN1 patients where the association of a microprolactinoma to a pancreatic tumor secreting GHRH may be misleading.

MRI

microprolactinoma


Input: We examined 124 untreated primary breast cancer patients comprising 100 sporadic and 24 familial cases including 56 age-matched healthy controls for the presence of BRCA1, BRCA2 and the p53 gene mutations using PCR-SSCP and direct nucleotide sequencing.

sporadic


Input: Apolipoprotein B is important in the metabolism of lipoproteins and there is an evidence suggesting that this apolipoprotein plays a central role in atherogenesis.

Apolipoprotein B

atherogenesis


Input: Cyclin A was the only independent predictor of high-risk HPV (odds ratio, 1. 09; 95% confidence interval, 1. 01-1. 18; P = 0. 021), exceeding the predictive power of CIN grade and high-grade squamous intraepithelial lesion Papanicolaou smears.

Cyclin A

high-grade squamous intraepithelial lesion


Input: Interestingly, the high level of p43 was observed in the foam cells of atherosclerotic lesions.

foam cells


Input: Of those, the 25 downregulated proteins, which include 14-3-3ζ, eukaryotic translation initiation factor 5A (EIF5A), and annexin A4, may be downstream targets of miR-7, a finding that could elucidate some aspects of the behavior of glioma cells at the protein level.

annexin A4

glioma


Input: Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c. 118_125del, p. (Thr40Glyfs * 11) and a c. 352 + 1G & #8201; & gt; & #8201; T in IFT27, which encodes a small GTPase component of the IFT-B complex.

polydactyly

polydactyly


Input: These two antibodies in combo with BRAF/MEK inhibitors potently inhibit in vitro cell growth and tumor regrowth after drug withdrawal in an in vivo xenograft model.

BRAF

drug withdrawal


Input: To assay functional activity of PPR + UTR and 5'-UTR regions that either contain or lack the " amyloid " box, we tested nine constructs in transient transfection studies.

UTR

amyloid


Input: Very recently, mutations in the PORCN gene were demonstrated to cause FDH.

PORCN

FDH

PORCN

FDH


Input: In conclusion, our data suggest that SCF (FBXO28) plays an important role in transmitting CDK activity to MYC function during the cell cycle, emphasizing the CDK-FBXO28-MYC axis as a potential molecular drug target in MYC-driven cancers, including breast cancer.

cancers


Input: By contrast, the pro-survival members Bcl-2 and Bcl-xl were both downregulated in severe sepsis (p < 0. 001 and p < 0. 05, respectively).

Bcl-xl

severe sepsis


Input: Demyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME.

neuropathy


Input: Four HCC cell lines, 54 HCCs, 42 cirrhotic livers, 21 livers with chronic hepatitis, and 15 normal control tissues were analyzed for 1) SFRP1 promoter methylation by using methylation-specific polymerase chain reaction analysis and bisulfite sequencing, 2) SFRP1 messenger RNA expression by using quantitative reverse transcriptase-polymerase chain reaction analysis, and 3) loss of heterozygosity (LOH) by using microsatellite markers flanking the SFRP1 locus.

HCC

chronic hepatitis


Input: The ADAS-cog15 was the primary efficacy measure; function, cognition, behavior, and quality of life were assessed as secondary measures; cerebral atrophy in MRI and the levels of tau, amyloid-β, and BACE1 in cerebrospinal fluid (CSF) were exploratory endpoints.

cerebral atrophy


Input: The present findings suggest that decorin and thrombospondin-1 may participate in the development of tubulointerstitial fibrosis and may have some relation with TGF-beta1 in mercuric chloride-treated BN rats.

decorin

fibrosis

decorin

fibrosis


Input: Treatment with CHK1 inhibitors during acute or prolonged hypoxia (< 0. 03%, 0. 2%, and 1% O2; 3 h or 20-24 h) gave similar effects on cell survival as treatment with these inhibitors during normoxia.

hypoxia


Input: No APP gene mutations were found in any of the FAD families or sporadic-AD samples examined in this study, suggesting that the mutations in exons 16 and 17 are a rare cause of FAD.

FAD

sporadic


Input: Collectively, these findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to & #946;-HPVs of EV patients.

EV

EV


Input: Removal of the genetic and environmental correlation parameters resulted in significantly worse fitting models for GAD, phobias, MDD, AN, and BN, which suggested that there was significant shared liability between each of these phenotypes and caffeine tolerance.

GAD

caffeine


Input: A feasible explanation for the focal nature of events in PKD1, proposed on the basis of the two-hit theory, suggests that cystogenesis results from the inactivation of the normal copy of the PKD1 gene by a second somatic mutation.

PKD1 gene

hit


Input: Intragenic deletion within the p53 deoxyribonucleic acid binding domain is uncommon in sporadic tumors but would be entirely consistent with misrepair of a radiation-induced double-strand deoxyribonucleic acid break in this case.

sporadic


Input: Oxygen free radicals may play a pivotal role in the mitochondrial signaling pathway of apoptotic cell death in hippocampal CA1 neurons after global ischemia.

ischemia


Input: Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.

beta-mannosidase

beta-mannosidosis

beta-mannosidase

beta-mannosidosis


Input: Our findings thus suggest that the elevation of RTP801 we detect in PD substantia nigral neurons may mediate their degeneration and death and that RTP801 and its signaling cascade may be novel potential therapeutic targets for the disease.

PD

PD


Input: High risk individuals, having elevated EBV IgA and viral load, showed high frequency of methylation of CDH13, DAPK1, DLC1 and CADM1, but low frequency of methylation of p16 and WIF1 and undetectable methylation of RASSF1A, CHFR, RIZ1 and RASSF2A.

viral load


Input: Results MCM5 protein was expressed in the lower layers of epidermis in psoriasis, while MCM5 protein were present throughout the tumor cells in BP, BD, and moderately/poorly differentiated SCC.

psoriasis


Input: LOX expression correlates with the level of tissue hypoxia, and it is known to play a critical role in breast cancer metastasis.

LOX

hypoxia


Input: In this study, we investigated the effects of HYDAMTIQ, a potent PARP-1 inhibitor, in a murine model of lung fibrosis.

lung fibrosis

lung fibrosis


Input: The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD).

EMD

autism spectrum disorder


Input: Duodenal CCK and jejunal substance P, somatostatin, and VIP and ileal substance P and somatostatin were significantly decreased in rats with acinar atrophy.

VIP

atrophy


Input: We investigated whether smoking is associated with mutations in the Von Hippel-Lindau (VHL) gene in 337 cases of sporadic renal cell carcinoma (RCC) among 120 852 people followed for 11. 3 years; the findings suggest that smoking causes RCC independently of VHL gene mutations.

VHL gene

smoking


Input: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

adolescent nephronophthisis

adolescent nephronophthisis


Input: Furthermore, inhibition of multiple but not single cytokines by treatment with siRNA against multiple cytokines or NF-kappaB significantly attenuated CLP-induced AT (1)-receptor downregulation and prevented septic circulatory failure.

CLP

circulatory failure


Input: In susceptible individuals beryllium (Be)-exposure may cause Be-hypersensitivity (BH), leading to a spectrum of immune abnormalities ranging from the systemic responsiveness to Be to the CD4 + T-cell dominated chronic granulomatous pneumonitis known as berylliosis.

hypersensitivity


Input: Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG).

Sertoli-Leydig cell tumor

Sertoli-Leydig cell tumor


Input: To achieve HCC-restricted replication of oncolytic adenovirus, we generated Ad5WS2, an E1B-55 kDa-deleted adenovirus with its E1A gene driven by the liver-specific transthyretin promoter.

HCC

adenovirus


Input: The aim of this study is to investigate the effects of Zn on the airway inflammation and the generation of eotaxin, monocyte chemoattractant protein-1 (MCP-1), interleukin-8 (IL-8), interleukin-4 (IL-4), and interferon-γ (IFN-γ) in rat models of ovalbumin (OVA)-induced allergic airway inflammation.

inflammation


Input: This study evaluated whether apolipoprotein A1 (ApoA1) protects against ongoing fibrosis and promotes the resolution of established experimental lung silicosis.

fibrosis


Input: To mechanistically link KCa3. 1 expression to glioma invasion, we selected patient gliomas that, when propagated as xenolines in vivo, present with either high or low KCa3. 1 expression.

KCa3. 1

gliomas


Input: Mesangial cell hypertrophy and p8 induction both require activation of the ERK, JNK/SAPK and PI-3-K pathways.

JNK

hypertrophy


Input: Considering the overexpression of mRNA, it was tentatively suggested that LY6E, TACSTD1, and CD44 proteins may act as surface markers for sorting pancreatic cancer stem cells with fluorescence-activated cell sorter/magnetic-activated cell sorter.

pancreatic cancer

pancreatic cancer


Input: New understanding in the pathogenesis of adrenoneuropathy (ANP), formerly called adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AML), has led to greater awareness of the disease with resultant increase in the number of new cases being diagnosed.

ANP

adrenoleukodystrophy


Input: In this study, hemizygous hypermethylation or genomic sequence abnormalities of the promoter region of NSD1 were hypothesized to be the underlying cause in patients with a SoS phenotype, but without confirmed NSD1 alterations.

abnormalities


Input: Genetically, the tumors expressed the EWS/FLI-1 chimeric transcript, derived from the t (11; 22) (q24; q12) chromosomal translocation.

EWS

chromosomal translocation


Input: Moreover, in mice, intrasplenic injection of IDO + leukemia/lymphoma A20 cells induces the expansion of bona fide T (reg) cells by conversion of CD4 + CD25-T cells; this effect is counteracted by 1-MT treatment.

leukemia


Input: Interleukin 6 (IL6) and Estrogen Receptor alpha (ESR1) polymorphisms were assessed in conjunction with smoking.

smoking


Input: These associations were not statistically significant in the total study population, but a statistically significant interaction between smoking and NAT2 acetylator status was present in postmenopausal women.

smoking


Input: Serum-and glucocorticoid-induced protein kinase 1 (SGK1) is regulated by store-operated Ca2 + entry and mediates cytoprotection against necrotic cell death.

necrotic cell death


Input: Molecular analysis revealed a translocation involving nucleoporin 98 (NUP98) fused to the DNA-binding domain of the hematopoietically expressed homeobox gene (HHEX).

translocation


Input: T cell chemotaxis to sphingosine 1-phosphate (S1P) and the chemokines CCL21 and CCL5 was studied in ten adults with T lymphocytopenia, other immunological abnormalities (nine of ten), and frequent bacterial infections (seven of ten).

abnormalities


Input: We previously demonstrated an association between the insulin-like growth factor 2 (IGF2) gene 3'-untranslated region (3'-UTR) ApaI polymorphism and body mass index (BMI) in over 2500 middle-aged Caucasoid males.

body mass index


Input: We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.

APOB

blood pressure


Input: In established hypertension, elevated CRP was associated with increased BP, BMI, insulin, HOMA (index of insulin resistance), leptin, triglycerides and norepinephrine.

CRP

insulin resistance


Input: We addressed the question of whether the C-174G IL-6 polymorphism contributes to variation of insulin sensitivity.

insulin sensitivity


Input: These results indicate that activation of FGFR3 can cooperate with other mutations to drive tumorigenesis in a context-dependent manner, and support the hypothesis that activation of FGFR3 signaling contributes to human cancer.

tumorigenesis


Input: The complete sequence of the ATM gene product provides useful clues to the function of this protein, and furthers understanding of the pleiotropic nature of the A-T mutations.

ATM

A-T

ATM

A-T


Input: Molecular analysis of the URO-synthase gene in seven unrelated CEP patients revealed eight novel mutations.

URO-synthase

CEP

URO-synthase

CEP


Input: Inherited GIF deficiency produces B12 deficiency unrelated with gastritis.

gastritis


Input: Thus, DEFA5, DEFA6, MMP7, IL8 and SPP1 consist in a valuable panel of biomarkers, whose detection can be used in early detection and progressive disease and also in prognostic of colon cancer.

colon cancer


Input: Once in the nucleus, NF-κB would contribute to cell survival and invasion under hypoxia, by maintaining RAGE and P2X7R expression levels and matrix metalloproteinases 2 and 9 synthesis.

RAGE

hypoxia


Input: We present the first molecular study of the HGD gene in Jordanian alkaptonuria patients.

HGD

alkaptonuria

HGD

alkaptonuria


Input: The results suggest that expression of PINCH may be involved in the tumourigenesis and aggressiveness of colorectal cancers.

PINCH

aggressiveness


Input: The results demonstrated that TGF-β1 increased the formation of autophagic vacuoles, LC3 expression, and phosphorylation of PI3K, Akt and mTOR in scrambled siRNA transfected HK2 cells compared to control cells, which was reversed in KCa3. 1 siRNA transfected HK2 cells.

autophagic vacuoles


Input: Five months after the discontinuation of therapy, the patient presented mixed leukemia (CD10, CD19, CD13 and CD33 were positive) with t (9; 11) (p21; q23) translocation.

translocation


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

astrocytic tumor


Input: Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene.

EVA

enlargement


Input: To investigate the association among XRCC1 polymorphisms, smoking, drinking and the risk of prostate cancer (PCa) in men from Han, Southern China.

smoking


Input: Although TGIF is present in the smooth muscle cells of the leiomyoma and the myometrium, it is not found in the extracellular matrix.

TGIF

leiomyoma


Input: Although recipients in the NC were on average 3 years older [mean (SD): 50. 3 (14. 6) vs. 47. 4 (16. 0), P = 0. 038] and had a higher mean body mass index [24. 5 (3. 6) vs. 23. 5 (3. 8) kg/m (2), P = 0. 003], a significantly lower incidence of both PTDM (13%) and IGT/IFG (18%) was observed in the NC (P < 0. 001) as compared to the HC.

IFG

body mass index


Input: Exogenous BDNF prevented dopaminergic neurodegeneration, and the neuroprotective effect of Am80 was suppressed by a TrkB inhibitor, K252a, or by anti-BDNF neutralizing antibody.

BDNF

neurodegeneration

BDNF

neurodegeneration


Input: In contrast, we obtained significant evidence for linkage or systolic blood pressure, but not diastolic blood pressure, to a genetic region at or near the lipoprotein lipase (LPL) locus on the short arm of chromosome 8 (P = 0. 002, n = 125 sib-pairs, for the haplotype generated from two simple sequence repeat markers within the LPL gene).

LPL gene

diastolic blood pressure


Input: Taken together, the information suggested that GSE could be potentially used as an angiogenic inhibitor in both solid tumour and leukaemia therapy.

GSE

leukaemia


Input: Here, we report on the HA-1 ribonucleic acid expression by microdissected carcinoma tissues and by single disseminated tumor cells isolated from patients with various epithelial tumors.

carcinoma


Input: The ADH1C * 2/* 2/MTHFR 677TT genotype combination showed the maximum risk (odds ratio 20; 95% CI = 13. 45-26. 64) in the heavy drinker group.

heavy drinker

heavy drinker


Input: These results show that uPA is one of the downstream target genes induced by constitutively activated RelA in human pancreatic tumor cells, and suggests that constitutive RelA activity may play a critical role in tumor invasion and metastasis.

uPA

pancreatic tumor

uPA

pancreatic tumor


Input: CISD2 expression was significantly upregulated in cervical cancer cells at both the mRNA and protein levels.

cervical cancer


Input: Aurora kinase A promotes inflammation and tumorigenesis in mice and human gastric neoplasia.

Aurora kinase A

tumorigenesis


Input: In the HBV-HCV group, patients with HCC were significantly older (p = 0. 000), had longer disease duration (p = 0. 001), higher blood glucose levels (p = 0. 001), lower levels of steatosis (p = 0. 02), higher levels of fibrosis (p = 0. 000), higher HCV RNA (p = 0. 01) than those without HCC.

HCC

fibrosis


Input: Two additional cases were heterozygous for de novo missense mutations in PRKAR1A, which encodes the cAMP-dependent regulatory subunit of protein kinase A and which has been recently reported to be the cause of a form of acrodysostosis resistant to multiple hormones.

acrodysostosis

acrodysostosis


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

depression

depression


Input: Previous studies among Moroccan Jewish TSD families identified three HEXA mutations.

HEXA

TSD

HEXA

TSD


Input: Hyperalgesia induced by both PLA (2) s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B (2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1).

Hyperalgesia

Hyperalgesia


Input: These findings reveal a calcium-and cAMP-PKA-independent signaling cascade and suggest a role for JAK2-STAT3 transduction in & #945; 4 & #946; 2-mediated attenuation of LPS-induced inflammation.

inflammation

inflammation


Input: The apparent Michaelis-Menten constant (Km) for ADP and maximal respiratory rate (Vm) values were calculated for the characterization of the affinity of mitochondria for exogenous ADP: normal colon tissue displayed low affinity (Km = 260 ± 55 μM) whereas the affinity of tumor mitochondria was significantly higher (Km = 126 ± 17 μM).

ADP

tumor


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


Input: The minor (rare) allele for SHP 512G > C (rs6659176) was associated with increased hip circumference.

SHP

hip circumference


Input: Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.

retinal degeneration


Input: Birt-Hogg-Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax, and kidney neoplasms.

MIM

kidney neoplasms


Input: Here we show that the expression of S100B is significantly reduced in BDV-infected brains despite severe astrocytosis with increased glial fibrillary acidic protein immunoreactivity.

astrocytosis


Input: Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis.

nasal polyposis


Input: Novel compound heterozygous nonsense mutations R518X/Q530X in the C-terminus of KCNQ1 were identified in both affected dizygotic twins; both the parents and a sibling each carried only one of the mutant alleles and were asymptomatic with modestly prolonged QTc intervals (0. 46, 0. 50, and 0. 45 seconds, respectively).

asymptomatic


Input: Heterotrimers composed of B cell CLL/lymphoma 10 (BCL10), mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1), and caspase recruitment domain-containing (CARD) family adaptors play a role in NF-κB activation and have been shown to be involved in both the innate and the adaptive arms of immunity in murine models.

arms


Input: The treatment of ADH patients with 1α-hydroxylated vitamin D derivatives can cause hypercalciuria leading to nephrocalcinosis.

ADH

hypercalciuria


Input: We have identified multiple cases and families with mono-allelic mutations in the first plant homeodomain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later onset, milder phenotypes, and reduced penetrance compared to classical APS-1.

AIRE

AIRE


Input: We therefore evaluated PAR-1 and PAR-2 expression in primary prostate cancer and bone metastasis.

PAR

bone metastasis


Input: The junD-/-mice were protected from carbon tetrachloride-induced fibrosis.

junD

fibrosis


Input: In the epithelial components, expression of nuclear β-catenin, p21 (waf1), and cyclin D1 was increased in a stepwise fashion from normal tissue through complex atypical hyperplasia and adenomyoma to APA lesions, particularly in squamous morular areas, whereas cell proliferation, as well as cyclin E expression, was significantly decreased in the latter.

APA

adenomyoma


Input: Repetitive aspiration events can initiate an inflammatory response consisting of macrophages and T cells that is associated with increased TGF-beta, TNF-alpha, IL-1alpha, IL-1beta, IL-2 and fibrosis in the lung.

fibrosis


Input: This study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) polymorphisms with impaired endothelium-dependent dilatation (EDD) in a cohort of children and adolescents with type 1 diabetes.

endothelial nitric oxide synthase

dilatation


Input: Immune enhancement of skin carcinogenesis by CD4 + T cells.

skin carcinogenesis


Input: To study the relationship between the level of the soluble L-selectin (sL-selectin) in plasma and surface L-selectin expression on leukemic cells and episode and state of illness in acute leukemia patients, the plasma level of sL-selectin was measured by a sandwich enzyme-linked immunosorbent assay, and the expressions of surface L-selectin and its gene (lyam-1) were detected by immunohistochemistry and RT-PCR.

acute leukemia


Input: Cortisol, growth hormone response, and pain following tetracosactrin depot and ACTH gel.

ACTH

pain

ACTH

pain


Input: Human IL-31 is induced by IL-4 and promotes TH2-driven inflammation.

inflammation


Input: The rat formalin assay was used to assess effects of the cyclic guanosine mono-phosphate (cGMP) analog, 8-bromo-cGMP on nociception and cGMP dependent protein kinase I (protein kinase G; PKG-I) expression in lumbar spinal cord.

PKG

mono


Input: Common NOS1 and rare NOX1 variants also revealed a suggestive association with diabetic nephropathy.

diabetic nephropathy


Input: We conclude that KCNJ11/S225T, del226-232 mutation caused a mild iDEND form in our patient.

mild


Input: Together, these results indicated that chronic elevated IL-18 levels at a supraphsiological concentration aggravated insulin resistance, enhanced vascular inflammation and remodeling, probably by increasing the level of IRAK1 and the activity of NF-kappaB.

insulin resistance


Input: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Keratin 9

epidermolytic palmoplantar keratoderma

Keratin 9

epidermolytic palmoplantar keratoderma