Input: A comparison of the laboratory features of JAK2 V617-positive and JAK2 wild-type ET patients clearly showed that JAK2 V617-positive ET is characterized by higher values for hemoglobin, hematocrit, and neutrophil counts; lower values for serum erythropoietin (EPO) levels, serum ferritin, and mean corpuscular volume; and by increased cellularity of the bone marrow in biopsy material.

EPO

hemoglobin


Input: Mechanistically, radiation suppresses miR-205 expression through ataxia telangiectasia mutated (ATM) and zinc finger E-box binding homeobox 1 (ZEB1).

telangiectasia


Input: Enhanced in-vitro and in-vivo suppression of A375 melanoma by combined IL-24/OSM adenoviral-mediated gene therapy.

OSM

melanoma


Input: We report an elderly patient who presented with primary myelofibrosis (MF) with myeloid metaplasia (MMM), associated with idic (17) (p11. 2) as the sole chromosomal abnormality, making this the first idic (17) (p11. 2) myeloproliferative case reported in which the breakpoints are mapped to the breakpoint cluster region in proximal 17p.

chromosomal abnormality


Input: The promoter hypermethylation and expression of sFRP and WIF-1 genes in different stages of colorectal tumor and colorectal cancer cell lines were detected by methylation-specific PCR and reverse transcription PCR, respectively.

colorectal cancer

colorectal cancer


Input: Requirement of nuclear factor-kappaB in angiotensin II-and isoproterenol-induced cardiac hypertrophy in vivo.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

ATP-binding cassette transporter 1

Tangier disease

ATP-binding cassette transporter 1

Tangier disease


Input: Genetic variations in the leptin receptor (LEPR) gene have been conceived to affect body weight in general populations.

LEPR

body weight


Input: Pretherapeutic low IL-10 (& lt; 24. 1 pg/ml) and high IL-12 (& gt; 5500 pg/ml) levels were significantly associated with mucositis causing a therapy interruption or even cessation.

mucositis

mucositis


Input: Such R-loops trigger genome instability and facilitate deamination by human AID.

AID

genome instability


Input: The ERK1/2 signaling pathway plays an important role in the early stage of reactive astrogliosis in mice with pilocarpine-induced SE.

astrogliosis

astrogliosis


Input: The high-risk genotype at GABRA2 was also related to a decreased likelihood of marrying and an increased likelihood of divorce, which appeared to be mediated in part by personality characteristics.

personality characteristics


Input: Pyrosequencing of IDH1 and IDH2 mutations in brain tumors and non-neoplastic conditions.

non-neoplastic


Input: For instance, several molecular alterations have been defined as " driver mutations, " such as mutations in epidermal growth factor receptor (EGFR), Kirsten-rous avian sarcoma (KRAS), and a chromosome 2p inversion producing an EML4-ALK fusion gene (echinoderm microtubule-associated protein-like 4 fused with the anaplastic lymphoma kinase).

anaplastic lymphoma kinase

avian sarcoma


Input: As far as we know, this is the first experimental evidence that the absence of dystrophin causes the complete loss of a still unknown laminin-alpha2-dependent adhesion force, therefore suggesting that the primary consequence of Duchenne dystrophy consists of the loss of an authentic mechanical linkage at the level of the alpha-dystroglycan/basal lamina interface.

alpha-dystroglycan

adhesion


Input: HIF induction was observed in culture in the osteoblastic MG-63 cell line, primary GCTB stromal cells, and monocyte-derived osteoclasts following stimulation with hypoxia (0. 1% O2) or the osteoclastogenic cytokines hepatocyte growth factor (HGF) and macrophage colony-stimulating factor (M-CSF).

M-CSF

hypoxia


Input: Combining microarray gene expression data and public gene sequence information, we identified CLOCK as 1 of 790 putative novel microsatellite instability (MSI) target genes.

CLOCK

microsatellite instability


Input: Several new roles for NCC in the regulation of sodium, potassium, and blood pressure have been unraveled recently.

NCC

blood pressure


Input: The LTBDH/PGR gene was expressed in lung cancer cell lines through recombinant adenovirus infection, and through a tetracycline-inducible expression system.

PGR gene

adenovirus infection


Input: Taken together, our results suggest that γ-H2AX is a physiological substrate of PP6, and PP6 is required for HDR and its expression may harbor a protective role during the development of breast cancer.

breast cancer


Input: It also indicates the important role of VEGF and HIF-1 in ovarian tumorigenesis and angiogenesis, which is mediated by the PI3K/AKT/HDM2 and AKT/p70S6K1 pathways in ovarian cancer cells.

tumorigenesis


Input: The results imply an alternative way in treating breast tumor as the AS against Glut5, unlike tamoxifen, takes effect on breast tumor cells via suppressing the expression of Glut5 that they specifically possess, and regardless whether the breast tumors are estrogen dependent or not.

breast tumor

breast tumor


Input: While hypoxia increases phospho-STAT3, Hif1α, and CBP/p300 recruitment as a transcriptional complex within the VEGF promoter, melatonin 1 mM decreases their physical interaction.

VEGF

hypoxia


Input: These results indicate that EMT induction promotes CSC traits and cell proportions in the thyroid cancer cells, which implies that EMT could induce cancer stem cell generation and tumor progression in thyroid cancers.

EMT

tumor progression


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

TGF-β

necrosis


Input: In comparison, weak or no expression of TfR1 was observed in carcinoma samples of Dukes C or D grade with poorly differentiated cells and in carcinoma samples that had lymph node infiltration and distant metastasis.

carcinoma


Input: PKD2 activation by hypoxia and its role for hypoxia-induced NR4/TR3-and VEGF-A promoter activity, expression and secretion was investigated in cell lines.

VEGF-A

hypoxia


Input: The basic objective of this study was to investigate the effects of TNF-α on the cell viability and apoptosis of hepatocellular carcinoma cells under serum starvation, and to identify the molecular mechanisms involved.

TNF-α

starvation


Input: Saline-treated rats showed sporadic CC10 staining in central airways and abundant staining in bronchioles.

sporadic


Input: We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.

ASD

ASD


Input: Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.

platelet membrane glycoprotein Ib alpha

Bernard-Soulier syndrome

platelet membrane glycoprotein Ib alpha

Bernard-Soulier syndrome


Input: The data suggests that frequent and persistent TTV infection through blood transfusion is associated with hepatic dysfunction and/or damage in transfusion dependent thalassemia patients.

TTV

hepatic dysfunction


Input: Post-translational regulated and hypoxia-responsible VEGF plasmid for efficient secretion.

VEGF

hypoxia


Input: The MTD was defined at 7. 5 to 9 microg/kg; DLT included severe fatigue, neurotoxicity, liver function abnormalities, and myelosuppression.

DLT

myelosuppression


Input: MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas.

MYH

tumorigenesis


Input: A constitutional translocation t (1; 17) (p36. 2; q11. 2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.

translocation


Input: Long-term increasing co-localization of SCN8A and ankyrin-G in rat hippocampal cornu ammonis 1 after pilocarpine induced status epilepticus.

status epilepticus

status epilepticus


Input: The ST3 and BM-40/SPARC transcripts were overexpressed in primary colorectal cancers and their liver metastases compared to non-neoplastic mucosa.

SPARC

non-neoplastic


Input: We demonstrate that Erk1 positively regulates osteoclast development and bone resorptive activity, as genetic disruption of Erk1 reduced osteoclast progenitor cell numbers, compromised pit formation, and diminished M-CSF-mediated adhesion and migration.

adhesion


Input: Interaction of secreted heat-shock protein 70 (Hsp70)-Hsp90-organizing protein (HOP) with cellular prion protein (PrP (C)) triggers a large number of trophic effects in the nervous system.

HOP

nervous system


Input: Our purpose was to investigate the effect of COMT Val158Met on personality traits from adolescence to young adulthood in a population representative Caucasian birth cohort.

COMT

personality traits


Input: Consistently, siRNA-SPHK1 and sphingosine kinase inhibitor (SKI) effectively blocked the expression of HIF-1α, phospho-AKT and vascular endothelial growth factor (VEGF) production in PC-3 cells under hypoxia, suggesting the role of SPHK1 in melatonin-inhibited HIF-1α accumulation.

VEGF

hypoxia


Input: Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

intellectual disability

intellectual disability


Input: This study aims to analyse the expression of Notch3, Notch4 and HES1 and HES6 as Notch-target genes in HCC, matched non-neoplastic tissue and HEPG2 cells.

HCC

non-neoplastic


Input: There were no significant relationships between the COMT and 5HTR2A polymorphisms and age of onset, gender, presence of agoraphobia, or PAS scores in the PD group (p > 0. 05).

COMT

agoraphobia


Input: Recent studies have demonstrated that certain types of necrosis are regulated and programmed dependent on the activation of receptor-interacting serine/threonine-protein kinase (RIPK) 1 and 3 which may be negatively regulated by Fas-associated protein with death domain (FADD).

serine/threonine-protein kinase

necrosis


Input: Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21. 3 as novel candidate genes for autism.

autism

autism


Input: Our findings highlight a unique role of SPI1 fusions in high-risk pediatric T-ALL.

T-ALL

T-ALL


Input: While essential for immunoglobulin gene diversification, AID misregulation can result in genomic instability and oncogenic transformation.

AID

genomic instability


Input: The degree of retinal damage was assessed morphologically by measuring the thickness of the inner retinal layers as well as functionally by electroretinography (ERG).

ERG

retinal damage


Input: The significant independent risk factors for oral and pharyngeal cancer overall among moderate-to-heavy drinkers were inactive ALDH2 * 1/* 2, less-active ADH1B * 1/* 1, frequent drinking of strong alcohol beverages straight, smoking, and lower intake of green-yellow vegetables.

smoking


Input: A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Espin

nonsyndromic hearing loss

Espin

nonsyndromic hearing loss


Input: At the exposure times studied (30-90 min) hypoxia does not affect expression of the MCP-1 receptor CCR2B and cells exposed to hypoxia still respond to MCP-1 with an elevation of intracellular calcium.

hypoxia


Input: This study evaluates the relationship of six polymorphisms found in the CHRNA3, DRD2 and COMT genes with nicotine dependence, the ability to quit smoking and the occurrence of withdrawal symptoms after short-term use of nicotine patch in hospitalized patients.

smoking


Input: A patient with acute monoblastic leukemia (M5A-FAB) with a karyotype 48, XX, + 2, + 8, t (9; 11) (p21; q22) is reported.

acute monoblastic leukemia


Input: Activation-induced cytidine deaminase (AID) produces widespread somatic mutation in mature B cells; however, the extent of " off-target " DSB formation and its role in translocation-associated malignancy is unknown.

AID

translocation


Input: Our findings thus demonstrate for the first time that EGR1 is a key player in the transcriptional control of miR-20b, and miR-20b may in turn function as an oncogene by contributing to breast tumorigenesis via tumor suppressor targeting.

tumorigenesis


Input: Purified TSP proteolytic fragments containing either the N-terminal heparin-binding domain, or the type 1, 2, or 3 repeats, failed to sustain SS-RBC adhesion (< 10% adhesion).

TSP

adhesion


Input: Therefore, we examined the parallel effects of urocortin-and hydralazine-induced hypotension on acute inflammation induced by carrageenin in the rat.

urocortin

hypotension

urocortin

hypotension


Input: Moreover, TGN is a potent therapeutic candidate for targeting the crosstalk between Nrf2/HO-1 and the NF-κB signaling pathway in the prevention or treatment of inflammation-associated diseases.

TGN

inflammation


Input: BRCA1 contains several functional domains that directly or indirectly interact with a variety of proteins via protein-protein interaction; these include tumor suppressors (BRCA2, p53, Rb and ATM), oncogenes (c-Myc, casein kinase II and E2F), DNA damage repair proteins (RAD50 and RAD51), cell cycle regulators (cyclins and cyclin dependent kinases), transcriptional activators and repressors (RNA polymerase II, RHA, histone deacetylase complex and CtIP), DNA damage-sensing complex and mismatch repair proteins (BRCA1-Associated Surveillance Complex; BASC) and signal transducer and activator of transcription (STAT) among others Formation of foci containing BRCA1 by inherited mutations, or epigenetic mechanisms (promoter methylation) in sporadic cancers leads to a loss of DNA repair ability, disrupts the potential to form complexes with other proteins that are crucial for DNA repair pathways.

RHA

sporadic


Input: Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.

MKS

MKS


Input: ESA +/CD133 +/lin-tumor cells were selected by flow cytometry from glioma tissues, and the periostin expression in ESA +/CD133 +/lin-tumor cells and non-ESA +/CD133 +/lin-tumor cells was detected by quantitative real-time polymerase chain reaction (RT-PCR) and Western blot analysis.

ESA

glioma


Input: Because cannabinoid receptor agonists are capable of reducing proliferation and inducing apoptosis in diverse cancer cells such as glioma, breast cancer, and melanoma, we evaluated whether CB1 is a potential drug target in rhabdomyosarcoma.

rhabdomyosarcoma

rhabdomyosarcoma


Input: The resulting mucosal necrosis does not rapidly heal because of the imbalance of VEGF and angiostatin/endostatin, hence duodenal ulcers develop.

VEGF

necrosis


Input: A part of tumor progression can be viewed as a continuum of progressive dedifferentiation (EMT) with a cell at the endpoint that has stem cell-like properties.

EMT

tumor progression


Input: On the other hand, both IDO expression on DC and monocytes after IFN-gamma treatment or CTLA-4 treatment were decreased in spontaneous abortion cases.

IFN

spontaneous abortion


Input: Highly liver-specific heme oxygenase-1 induction by interleukin-11 prevents carbon tetrachloride-induced hepatotoxicity.

liver

liver


Input: Knockdown of endogenous PTPRU in gastric cancer cells using lentivirus-delivered specific shRNA results in the attenuation of cell growth, migration, invasion and adhesion.

PTPRU

adhesion


Input: The signal transduction pathway for GRP-R and NMB-R involves coupling to a pertussis-toxin insensitive G-protein, activation of phospholipase C (PLC), generation of inositol trisphosphate (IP3), release of intracellular calcium, and activation of protein kinase C. While all three bombesin receptors are activated by bombesin agonists, GRP-R, NMB-R, and BRS-3 have very different affinities for the mammalian bombesin-like peptides GRP and NMB, as well as bombesin receptor antagonists.

GRP

pertussis


Input: Fundus examination revealed no abnormalities other than myopic changes, and the single bright-flash, mixed rod-cone ERG showed a " negative-type " configuration with a reduced normal a-wave and a significantly reduced b-wave amplitude.

ERG

abnormalities


Input: Expression of VEGF in tumour cells was strongly increased in areas directly adjacent to necrotic/hypoxic regions.

VEGF

necrotic


Input: Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome


Input: Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years.

MPS IIIB

Sanfilippo syndrome type B

MPS IIIB

Sanfilippo syndrome type B


Input: ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function.

schizophrenia

schizophrenia


Input: We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases.

FUS

sporadic


Input: As a result of this translocation, the SYT gene on chromosome 18 fuses to either the SSX1 or the SSX2 gene on the X chromosome, depending on the exact location of the breakpoint within band Xp11. 2.

SSX2 gene

translocation


Input: Overall EMMPRIN expression was also found to be significantly higher in the epithelial lining of OKCs than in the other types of cysts.

EMMPRIN

cysts


Input: The study describes the stress response in the central cotyledon zone of placental tissue and in maternal whole peripheral blood to pregnancy related complications including gestational hypertension (n = 31), preeclampsia w or w/o fetal growth restriction (n = 95), and fetal growth restriction (n = 39) using real-time RT-PCR and genes encoding Hsp27, Hsp60, Hsp70, Hsp90 and HspBP1 proteins.

preeclampsia


Input: Structural data obtained by design-based stereology to quantify the emphysema-like phenotype and disturbances of the intracellular surfactant were correlated to invasive pulmonary function tests and inflammatory markers including activation markers of alveolar macrophages and compared to SP-D (Sftpd (-/-)) and iNOS single knockout mice (NOS2 (-/-)) as well as wild type (WT) littermates.

emphysema

emphysema


Input: We examined 52 SNPs within the SIRT genes (11 in SIRT1, 7 in SIRT2, 14 in SIRT3, 7 in SIRT4, 9 in SIRT5, and 4 in SIRT6) in 3 independent Japanese populations with type 2 diabetes (study 1: 747 cases (overt proteinuria), 557 controls; study 2: 455 cases (overt proteinuria) and 965 controls; study 3: 300 cases (end-stage renal disease) and 218 controls).

proteinuria


Input: Furthermore, skin tumors that spontaneously develop in ODC/Ras bigenic mice typically have substantially more Tip60 protein than adjacent non-tumor-bearing skin and exhibit a unique pattern of Tip60 size variants and chemically modified protein isoforms.

skin tumors


Input: Here, we report a case of an advanced chemotherapy-resistant NSCLC, harboring a novel HER3 (V855A) somatic mutation homologous to the EGFR (L858R) activating mutation.

somatic mutation


Input: A 30 year-old man with a history of recurrent skin infections as well as elevated serum IgE and eosinophils developed neurological symptoms and had T2-hyperintense lesions observed in cerebral MRI.

MRI

recurrent skin infections


Input: Loss-of-function defects in DNA mismatch repair (MMR), which manifest as high levels of microsatellite instability (MSI), occur in approximately 15% of all colorectal carcinomas (CRCs).

MMR

microsatellite instability


Input: The secretion of VEGF under hypoxia was detected by enzyme-linked immunosorbent assay (ELISA).

VEGF

hypoxia


Input: At a molecular level, genetic abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HNF4A, HNF1A, SLC16A1, UCP2 and HADH) have been identified which cause CHI.

abnormalities


Input: We now have also noted that AIDS patients with opportunistic infections have a normal frequency of DR2 and DR5 and a significantly increased frequency of DR3 and that the ultimate clinical expression of AIDS in patients with unexplained lymphadenopathy may depend upon genetic factors associated with these particular DR types.

opportunistic infections


Input: Both the patient' s marked sinus dysfunction and his cardiac hypertrophy were suspected to be related to the ACTH therapy.

ACTH

cardiac hypertrophy

ACTH

cardiac hypertrophy


Input: For the more common and genetically complex forms of migraine, genome-wide screens have identified several new loci on 4q24, 6p12. 2-21. 1, 11q24, and 14q21. 2-q22. 3, suggesting additional migraine genes in these regions.

migraine


Input: Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene-VHL, EGLN1, EPAS1.

erythrocytosis


Input: Though Rad18 is reported to function in a post replication mismatch repair system, the relation between the status of Rad18 and human tumorigenesis has not been described so far.

tumorigenesis


Input: With a strong association between FTO gene variants and BMI levels, we further identified an association between rs9939973 or rs9939609 and being overweight both children (P = 0. 025, OR = 1. 47, 95% CI = 1. 05-2. 06; P = 0. 023, OR = 1. 53, 95% CI = 1. 06-2. 22) and adults (P = 0. 018, OR = 1. 10, 95% CI = 1. 02-1. 19; P = 0. 001, OR = 1. 16, 95% CI = 1. 06-1. 27).

FTO gene

overweight


Input: We found that 15-LOX-1 reexpression in HCT116, HT29LMM, and LoVo colon cancer cells inhibited survival, vascular endothelial growth factor (VEGF) expression, angiogenesis, cancer cell migration and invasion, and HIF-1α protein expression and stability under hypoxia.

VEGF

hypoxia


Input: Among African American women, the association of breast cancer and smoking was strongest among women with specific combinations of NER genotypes.

NER

smoking


Input: The only causative genes so far identified for the non-congenital primary lymphoedemas are the transcription factor FOXC2, where mutations are known to produce lymphoedema with distichiasis, and SOX18 in the very rare condition hypotrichosis-lymphoedema-telangiectasia.

telangiectasia


Input: A significant number of non-neoplastic T cells (resting CD4 (+) T cells and activated small or medium-sized CD8 (+) lymphocytes) may coexist with a minor neoplastic T cell population.

non-neoplastic


Input: To elucidate whether NAV3 has a role in the tumorigenesis of nervous system tumors in general, we studied central and peripheral nervous system tumors for NAV3 copy number changes.

tumorigenesis


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%.

non-small cell lung cancer

non-small cell lung cancer


Input: We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4.

Cenani-Lenz syndrome

Cenani-Lenz syndrome


Input: Moreover, the results show that adhesion-induced EGFR activation and EphA2 expression is affected by interactions with extracellular matrix (ECM) proteins working as integrin ligands.

EGFR

adhesion


Input: A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p. Ser129Arg mutation destabilizes the & #946; B1/& #946; A3-crystallin heteromer but not the & #946; B1-crystallin homomer.

cataract-microcornea syndrome

cataract-microcornea syndrome


Input: The homozygous variants of hOGG1 G2657A, APEX1 D148E and XRCC1 R194W polymorphisms all showed a weak but significant effect on overall survival as demonstrated by either log rank test or multivariate COX regression after adjusting for other potential confounders.

regression


Input: Our findings suggest that noradrenergic-regulated plasticity genes such as CAM-L1, laminin, and CREB play an important role both in stress and in the treatment of depression.

CAM

depression

CAM

depression


Input: Kindlin-2 is expressed in a small subset of high-grade invasive bladder cancers and may have potential as a prognostic marker for tumor progression.

bladder cancers

bladder cancers


Input: Of the clinicopathologic parameters examined, tumor necrosis (P = 0. 019) and American Joint Committee on Cancer (AJCC) stage (P = 0. 021) correlated significantly with p27 (kip1) LI.

tumor necrosis


Input: Lower CL/F and higher exposure occurs in female subjects with the ABCB1 3435CC or CT genotype who have greater decreases in blood pressure after treatment with amlodipine.

blood pressure


Input: Our previous research results showed that both Ras homolog family member C (RhoC) and IQ-domain GTPase-activating protein 1 (IQGAP1) were over-expressed in gastric cancer tissues and cells, but their role in tumorigenensis has not been addressed clearly.

RhoC

gastric cancer


Input: Here we showed that the development of cervical intraepithelial neoplasia (CIN) and cervical squamous cell carcinoma (CSCC) in Uighur women was accompanied with the partial or total loss of protein expression of HLA-I, ß2-m and APM components, including the transporter associated with antigen processing (TAP1/2), low molecular mass protein (LMP2, LMP7), endoplasmic reticulum aminopeptidase 1 (ERAP1), chaperone molecules include calreticulin (CLR), calnexin (CNX) and ERp57, and this was proved again by analysis of transcription of the same genes in addition to three genes HLA-A, B and C coding for HLA-I.

cervical squamous cell carcinoma


Input: Postmortem, molecular diagnostic confirmed MUL as a novel 1-bp deletion (c. 1233delA) in exon 14 of the TRIM37 coding region.

MUL

MUL


Input: The alpha (2a)-adrenergic receptor plays a protective role in mouse behavioral models of depression and anxiety.

alpha (2a)-adrenergic receptor

depression

alpha (2a)-adrenergic receptor

depression


Input: We first show that the Notch-1 receptor, as well as its downstream target Hes-1, is up-regulated with colon cancer progression, similar to other genes involved in chemoresistance.

colon cancer

colon cancer


Input: TGF-beta also inhibited hypoxia-induced Epo production, but only by as much as 56%.

TGF-beta

hypoxia


Input: Logic regression identified an interaction involving four SNPs (MBD2-rs4041245, MLH1-rs1799977, MDM2-rs769412, BRCA2-rs1799943) (P (permutation) = 2. 4 × 10 (-3)).

regression


Input: The rs225017 polymorphism in the 3' UTR of the human DIO2 gene is associated with increased insulin resistance.

DIO2 gene

insulin resistance


Input: There was no correlation between expression of the p53 gene and age, sex, tobacco intake, alcoholism, and familiar history of cancer or clinical stage of the disease.

alcoholism

alcoholism


Input: Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching.

NEMO

XHM-ED

NEMO

XHM-ED


Input: Localized adhesion (LA) was the most common pattern of adhesion (44. 1%), followed by the aggregative adhesion (AA) (23. 5%) and localized adhesion-like (LAL) (14. 7%) patterns.

LAL

adhesion


Input: The purpose of this study is to identify colorectal serrated lesions in the inflammatory mucosa of inflammatory bowel disease (IBD), to characterize their molecular status based on BRAF and KRAS mutations, mismatch-repair (MMR) deficiency and microsatellite instability (MSI), and to verify that these molecular alterations are specific to the' serrated neoplasia pathway' in IBD.

MMR

microsatellite instability


Input: The aim of the study was to investigate whether the Gln223Arg in the leptin receptor may influence body weight, leptin concentration, and metabolic parameters in children.

leptin receptor

body weight


Input: In this paper, we report the clinical phenotype and molecular analysis of two siblings with severe partial androgen insensitivity due to a novel mutation in the ligand-binding domain of the AR gene.

AR

partial androgen insensitivity

AR

partial androgen insensitivity


Input: PVRL2 is a plasma cholesterol-responsive gene acting at endothelial sites of vascular inflammation that could potentially be a new therapeutic target for atherosclerosis prevention through its suggested transendothelial migration of leukocytes modulating activity.

atherosclerosis

atherosclerosis


Input: However, this study adds further evidence that the common genetic background of asthma and JIA is mainly based on polymorphisms in important TH1 and TH2 cytokines.

asthma


Input: Genome-wide association study using microsatellite markers suggested SLC23A3, CNPPD1, and FAM134A genes as candidates for schizophrenia susceptibility in the Japanese population.

schizophrenia

schizophrenia


Input: Two of our patients had associated congenital defects that are known to occur in patients with G6PC3 mutations, including congenital heart disease and intermittent thrombocytopenia.

congenital heart disease


Input: The results show that the carrageenan-induced edema in the paw elicits an early phase of COX-2 induction in the CNS leading to an increase synthesis in PGD (2), 6-keto-PGF (1alpha), and TXB (2) in addition to the major PGE (2) response.

PGD

edema


Input: In this study, real-time assay was applied to estimate parasite load in clinical samples of visceral leishmaniasis (VL) and post kala-azar dermal leishmaniasis (PKDL) patients.

PKDL

leishmaniasis


Input: Adenosine modulates HIF-1 {alpha}, VEGF, IL-8, and foam cell formation in a human model of hypoxic foam cells.

VEGF

hypoxic


Input: At entrance, there was no significant association between FPR1 C32T SNP and blood pressure (BP) in healthy individuals.

blood pressure


Input: A statistically significant inverse correlation between miR-26b and Nampt expression was observed in samples from colorectal cancer patients and in 5 colorectal cell lines (HT-29, SW480, SW1116, LoVo, and HCT116).

colorectal cancer

colorectal cancer


Input: We hypothesize that the inhibition of thromboxane synthase (TXS) induces the death of lung cancer cells and that such inhibition is associated with the nuclear p27 level.

TXS

lung cancer


Input: Hippocampal sclerosis (HS), focal cortical dysplasia (FCD), and dysembryoplastic neuroepithelial tumor (DNT) were studied by using immunohistochemistry for MVP and BCRP.

BCRP

focal cortical dysplasia


Input: Surprisingly, we found that short hairpin RNA-mediated depletion of REV3 per se suppresses colony formation of lung (A549, Calu-3), breast (MCF-7, MDA-MB-231), mesothelioma (IL45 and ZL55), and colon (HCT116 +/-p53) tumor cell lines, whereas control cell lines (AD293, LP9-hTERT) and the normal mesothelial primary culture (SDM104) are less affected.

Calu

mesothelioma


Input: We assessed the expression of Id4 messenger RNA (mRNA) in invasive mammary carcinoma from 31 patients, as well as in 21 cases of ductal carcinoma in situ, in 9 lymph node metastases, and in the morphologically normal epithelium adjacent to the carcinoma from the same subjects.

ductal carcinoma in situ


Input: Increased expression was also associated with breast cancer subtypes, and ectopic expression of PHGDH in mammary epithelial cells disrupted acinar morphogenesis and induced other phenotypic alterations that may predispose cells to transformation.

PHGDH

breast cancer

PHGDH

breast cancer


Input: However, when C patients were subdivided into four subgroups on the basis of presence/absence of 1267B Hsp70-2 and-308A TNF-alpha alleles, B + A + patients showed higher prothrombin activity as well as Hsp70-2, TNF-alpha, IL-6 gene expressions in carotid atheroma when compared to B-A-genotypes.

TNF-alpha

atheroma


Input: To explore activities of the ubiquitin ligase E3s WWP1, Smurf1 and Smurf2 in oncogenesis and bone metastasis of prostate cancer, as well as in the functional mechanism of bortezomib in preventing prostate cancer, transcription and expression levels of WWP1, Smurf1 and Smurf2 genes in cell lines or tissues of benign prostate hyperplasia and human prostate cancer with and without bone metastasis were tested.

benign prostate hyperplasia


Input: Multivariable logistic regression analysis and a stepwise forward selection procedure revealed that nine different polymorphisms were significantly (P < 0. 005) associated with MI among individuals with or without hypertension, hypercholesterolemia, or diabetes mellitus: 1018Cright curved arrow T of GP1BA,-108/3Gright curved arrow 4G of IPF1, 677Cright curved arrow T of MTHFR, and Gright curved arrow A of UTS2 in hypertensive individuals; 2445Gright curved arrow A of FABP2,-108/3Gright curved arrow 4G of IPF1, 677Cright curved arrow T of MTHFR,-11, 377Cright curved arrow G of ACDC, Aright curved arrow G of AKAP10, 11, 496Gright curved arrow A of F7, and 46Cright curved arrow T of F12 in individuals without hypercholesterolemia; 2445Gright curved arrow A of FABP2 in diabetic individuals; and-108/3Gright curved arrow 4G of IPF1 in nondiabetic individuals.

diabetes mellitus


Input: In the development of a SMA pig model, it was important to demonstrate that the human SMN2 gene would splice appropriately as the model would be based on the presence of the human SMN2 transgene.

SMA

SMA


Input: Interestingly, autophagy was activated in non-TG hearts but significantly inhibited in Hsp20 (S16A) hearts following ischemia/reperfusion.

ischemia


Input: Myeloperoxidase (MPO) is a heme enzyme, released by activated leukocytes at sites of inflammation, which catalyzes the formation of the potent oxidant, hypochlorous acid (HOCl), from H2O2.

Myeloperoxidase

inflammation

Myeloperoxidase

inflammation


Input: In contrast, prolonged elevation of RCAN1-1L levels is associated with the types of neurodegeneration observed in several diseases, including Alzheimer disease and Down syndrome.

neurodegeneration


Input: Schilbach-Rott syndrome associated with 9q22. 32q22. 33 duplication, involving the PTCH1 gene.

Schilbach-Rott syndrome

Schilbach-Rott syndrome


Input: These results suggest an important role for GLI2 in regulating epidermal proliferation and skin tumorigenesis.

tumorigenesis


Input: These data demonstrate that patients with nodular bronchiectasis have multiple and/or repeated infections due to MAC whereas patients with upper lobe cavitary disease are usually infected with only a single strain.

MAC

infections


Input: We describe a case of compound heterozygosity in the MYBPC3 gene (p. Glu258Lys and IVS25-1G > A) associated with biventricular hypertrophy, atrial enlargement and subsequent neonatal death 33 days postpartum.

MYBPC3 gene

neonatal death


Input: In addition, activated Ras and dominant negative p53 enhances the hypoxia-induced VEGF protein release.

VEGF

hypoxia


Input: Herein, we demonstrate that both inhibition of PKA-dependent CREB phosphorylation, as well as silencing of CREB expression by shRNA, restored AP-2alpha protein expression in two metastatic melanoma cell lines.

CREB

metastatic melanoma


Input: Our data revealed that p73 participates in WWOX-mediated apoptosis in Jurkat and K562 cells through binding with Wwox in the cytoplasm without a nuclear-cytoplasmic translocation.

Wwox

translocation


Input: Seven (25%) had API2-MALT1 fusion; all seven lacked aneuploidy except for two with trisomy 3 in a small clone.

aneuploidy


Input: These irradiated sublines showed reduced levels of epidermal growth factor receptors and unchanged levels of topoisomerase II, but they overexpressed c-erbB2 marginally and heat shock protein 27 significantly.

epidermal growth factor

shock


Input: Ovarian mucinous adenoma, mucinous tumors of borderline malignancy, and mucinous adenocarcinoma had positive nuclear staining for HNF4 alpha (41/45, 91%).

mucinous adenocarcinoma


Input: We investigated the role of IDO and TDO in patients with recurrent miscarriage.

IDO

recurrent miscarriage


Input: Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.

EGFR

adhesion


Input: Microarray-based GEP of CRC isolated from eight women undergoing IVF was performed to identify genes differentially expressed between patients with normal ovarian reserve and DOR patients.

GEP

ovarian reserve


Input: Plasma UII levels were significantly elevated by 1. 8-fold in diabetic patients without proteinuria (7. 8 +/-0. 6 fmol/ml; P < 0. 0001) and 1. 7-fold in those with overt proteinuria (7. 3 +/-0. 9 fmol/ml; P = 0. 0018) when compared with healthy subjects (4. 4 +/-0. 2 fmol/ml).

UII

proteinuria


Input: Decreased expression of NBPF1 in neuroblastoma cell lines with loss of 1p36 heterozygosity and the marked decrease of anchorage-independent clonal growth of DLD1 colorectal carcinoma cells with induced NBPF1 expression further suggest that NBPF1 functions as tumor suppressor.

colorectal carcinoma


Input: The t (14; 18) chromosomal translocation, which joins the Bcl-2 proto-oncogene to an Ig J (H) gene, has increased prevalence in patients chronically infected with hepatitis C virus (HCV).

chromosomal translocation


Input: Detection of DNA mismatch repair (MMR) deficiencies by immunohistochemistry can effectively diagnose the microsatellite instability (MSI) phenotype in endometrial carcinomas.

MMR

microsatellite instability


Input: The c-Jun N-terminal kinases (JNKs) are key regulators of inflammation and interfere with insulin action in cultured cells and whole animals.

c-Jun

inflammation


Input: Genetic inactivation of CatB in mice with neuronal expression of familial AD-mutant human amyloid precursor protein (hAPP) increased the relative abundance of Abeta1-42, worsening plaque deposition and other AD-related pathologies.

CatB

plaque


Input: However, given its role in EE, the name of the gene has been changed to " ETHE1. "

EE

EE


Input: The CMT1A-REPs are two large directly repeating DNA sequences located on chromosome 17p11. 2-p12 flanking the region duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

hereditary neuropathy with liability to pressure palsies


Input: Subarachnoid hemorrhage (SAH) is a frequent occurrence in cerebrovascular accidents, and inflammation occurs in the subarachnoid space after SAH.

SAH

inflammation


Input: The FBXO4 tumor suppressor functions as a barrier to BRAFV600E-dependent metastatic melanoma.

metastatic melanoma


Input: The finding of an appreciable frequency of somatic MLH3 mutations is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis.

tumorigenesis


Input: To investigate the effect of both fermented Cordyceps powder (CS) and prednisone on the Notch2/hes-1 signaling activation in the kidney tubules of rats with acute aristolochic acid nephropathy (AAAN).

aristolochic acid nephropathy


Input: High frequency of BCL2 translocation in Thai patients with follicular lymphomas.

translocation


Input: Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

pituitary hormone deficiency


Input: In addition to well-known factors responsible for both anemia and inadequate response to erythropoietin (EPO), we examined the contribution of the VDR genotype to hematocrit (Hct), hemoglobin (Hb) level, total weekly dose of EPO, and EPO-Hb ratio as an index of patient EPO need.

EPO

hemoglobin


Input: Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del (12) (p13)/ETV6 was frequently involved.

chromosomal aberrations


Input: A phenotypic characteristic of tumors with defective MMR is microsatellite instability (MSI).

MMR

microsatellite instability


Input: Standard G-banding karyotype analysis revealed clonal chromosome abnormalities with the karyotype 42-44, XY,-11,-12,-13,-16,-21,-22, i (8q), inv (14) (q11q32), t (15;?) (p11;?

chromosome abnormalities


Input: Overall, these results indicated that over-expression of VEGF in the brain exerted a neuroprotective effect and promoted neural functional recovery in neonatal rats after hypoxic-ischemic brain damage, suggesting that in vivo target VEGF gene transfer to brain may be a promising approch for the treatment of such implications.

VEGF

hypoxic


Input: Furthermore, hypoxia-induced Notch-1IC, DLL4, hrt-1 and-2 expression were significantly inhibited by WP1066 (p < 0. 05).

hypoxia


Input: The increased expression of L-WNK1 in the DCT results in increased activity of the Na-Cl cotransporter (NCC) and thus hypervolemia and hypertension.

DCT

hypervolemia


Input: Modest increases in glomerular basement membrane thickness and albuminuria were detected with podocyte foot processes largely preserved, in the absence of podocyte GLUT1 overexpression.

albuminuria


Input: Gene expression analysis using pre-treatment tumor samples supports high ALDH1A3 expression before BRAF/MEK inhibitor treatment as predictive of better treatment response in BRAF-mutant melanoma patients.

melanoma

melanoma


Input: Conversely, mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na (+) retention, elevated blood pressure on a high-Na (+) diet and increased surface expression of total and phosphorylated NCC and NKCC2 in respective nephron segments.

NCC

blood pressure


Input: We thus demonstrate that apart from the coding or splice-site variants causing DOPA-responsive dystonia and atypical phenylketonuria, there is a common clinically relevant GCH1 genetics that is so far known to be related to unfavorable changes of endothelial function and a reduced risk for chronic pain.

chronic pain


Input: We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny.

frontorhiny

frontorhiny


Input: De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.

Epilepsy

Epilepsy


Input: To clarify the immunological causes of spontaneous abortion, we examined the relationship between cytotoxic granule proteins in decidual lymphocytes, such as granulysin, granzyme B, and perforin, and the induction of apoptosis in extravillous trophoblasts (EVTs).

granzyme B

spontaneous abortion


Input: The results demonstrate that expression of IRS5/DOK4 is frequently altered with both elevated and decreased expression in non-small-cell lung cancer (NSCLC) tumor specimens.

tumor


Input: Persons with ICE and MM genotype showed increased prevalence of pulmonary disorders and same signature as S and Z carriers and homozygotes (see above).

ICE

pulmonary disorders


Input: We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1.

transcription factor GATA1

DBA

transcription factor GATA1

DBA


Input: The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

hereditary inclusion body myopathy

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

hereditary inclusion body myopathy


Input: These findings support an important role for TNF-alpha signaling in tumorigenesis and demonstrate that tumors growing in an obese state had significantly different expression levels of TNFR2 and NF-kappaB, proteins known to play a critical role in growth and survival, than those growing in the lean state.

tumorigenesis


Input: Thirteen bone marrow samples and one sample obtained from peripheral blood of 13 leukemia patients were examined by CC, FISH and CGH.

FISH

leukemia


Input: In addition, we provide evidence that PCAF acetylates hypoxia-inducible factor-1alpha (HIF-1alpha) in hypoxic conditions and that the acetylated HIF-1alpha is recruited to a particular subset of its targets.

PCAF

hypoxic


Input: The initiation of peritonitis is accompanied by a massive increase in intraperitoneal levels of IL-6.

peritonitis


Input: Intermedin: a novel regulator for vascular remodeling and tumor vessel normalization by regulating vascular endothelial-cadherin and extracellular signal-regulated kinase.

Intermedin

vascular remodeling


Input: In contrast, incomplete dissociation was detected in the case of FVIII 372-Cys.

FVIII

dissociation


Input: Unilateral EGF infusion to the striatum lowered prepulse inhibition (PPI) in a dose-dependent manner and impaired latent learning of active shock avoidance without affecting basal learning ability.

EGF

shock


Input: We propose that the toxic gain-of-function of the polyQ-expanded Htt that causes dysfunction of cellular RNA processing contributes to the pathogenesis of HD.

Htt

HD

Htt

HD


Input: The hyperplastic response of the fundic mucosa was increased by increasing gastrin doses; whereas, colon cancer hyperplasia was maximal at the lowest dose tested (125 micrograms/kg/day) and did not increase further with increasing doses of hormone.

gastrin

colon cancer

gastrin

colon cancer


Input: Intravenously transplanted human MSCs induced functional improvement, reduced infarct volume, and neuroprotection in ischemic rats, possibly by providing IGF-1 and inducing VEGF, EGF, and bFGF neurotrophic factors in host brain.

VEGF

infarct


Input: Cerebral vasospasm after aneurysmal subarachnoid hemorrhage (SAH) has been hypothesized to occur because of both inflammation-mediated sustained contraction of smooth muscle cells and vascular remodeling.

SAH

inflammation


Input: In rats pretreated with Ad. VEGF (10 (8) pfu) 2 d before a 2-wk exposure to hypoxia (10% O (2)), lower values versus Ad.

VEGF

hypoxia


Input: PDGFRA rearrangement leading to hyper-eosinophilia, T-lymphoblastic lymphoma, myeloproliferative neoplasm and precursor B-cell acute lymphoblastic leukemia.

PDGFRA

B-cell acute lymphoblastic leukemia

PDGFRA

B-cell acute lymphoblastic leukemia


Input: Furthermore, IL-6 receptor blockade led to a reduction in p27 (Kip1) expression, and allowed the translocation of RAG2 from the nucleus to the cytoplasm.

translocation


Input: Most of these p-ERK5-immunoreactive neurons were small-and medium-sized neurons, which coexpressed transient receptor potential (TRP) ion channel TRPV1 and TRPA1 after noxious heat and cold stimuli, respectively.

cold


Input: Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA.

MMR

microsatellite instability


Input: Human endogenous retrovirus-K18 superantigen expression and human herpesvirus-6 and human herpesvirus-7 viral loads in chronic fatigue patients.

chronic fatigue


Input: HCV baseline viral load, IL28B, TGF-β, AQP-2 and LDLR haplotypes were independently associated with SVR.

TGF-β

viral load


Input: To obtain further information about the role of glial fibrillary acidic protein mutations in Alexander disease, we analyzed 41 new patients and another 3 previously described clinically, including 18 later onset patients.

glial fibrillary acidic protein

Alexander disease

glial fibrillary acidic protein

Alexander disease


Input: In the present study, we investigated the contribution of AEG-1 to glioma-induced neurodegeneration.

neurodegeneration


Input: Novel SUOX mutations were detected in 3 SOD cases and a novel MOCS2 mutation in 1 MoCD case.

SUOX

SOD

SUOX

SOD


Input: Lactate was increased and albumin was decreased in patients with acute liver failure compared to healthy controls resulting in normal net metabolic acid-base state.

albumin

acute liver failure

albumin

acute liver failure


Input: Our study aimed to investigate whether CAG and GGN polymorphism of the AR gene are associated with acne risk.

GGN

acne


Input: Ischemic hypoxia is strongly correlated with increased VEGF expression in these systems and is considered a physiologically relevant stimulus.

VEGF

hypoxia


Input: To investigate the mechanism of deafness, we generated two lines of transgenic mice overexpressing Diap3, the murine ortholog of DIAPH3, on an FVB/NJ background.

deafness


Input: The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them by means of immunohistochemistry.

MCD

MCD


Input: Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

developmental disorder


Input: We have analyzed the configuration of the T cell receptor (TCR) alpha gene using newly developed genomic joining region (J alpha) probes, which cover approximately 80 kb of the J alpha region upstream from the constant region in 19 patients with T cell acute lymphoblastic leukemia (T-ALL) and in three CD3-leukemic T cell lines (HSB2, CEM, and MOLT4).

alpha gene

acute lymphoblastic leukemia


Input: A polymorphism in the microRNA-30e precursor associated with major depressive disorder risk and P300 waveform.

major depressive disorder

major depressive disorder


Input: The diastolic blood pressure (DBP) response differed in relation to the CYP2C9 genotype in patients given irbesartan: the reduction in patients with genotype CYP2C9 * 1/CYP2C9 * 1 (n = 33) was 7. 5% and that with CYP2C9 * 1/CYP2C9 * 2 (n = 12) was 14. 4% (P = 0. 036).

diastolic blood pressure


Input: These data combine to suggest that celecoxib mainly uses the mitochondrial pathway rather than FADD pathway to trigger apoptosis of COX-2 expressing murine lupus T cells.

lupus

lupus


Input: These findings indicate that MURC modulates RhoA signaling and that MURC plays an important role in the development of cardiac dysfunction and conduction disturbance with increased vulnerability to atrial arrhythmias.

MURC

atrial arrhythmias


Input: Hypoxia is associated with the production of VEGF by nasal fibroblasts and TNF-alpha and endotoxin may act synergistically to enhance VEGF production in paranasal sinuses under hypoxic condition.

VEGF

hypoxic


Input: It is possible that other discrete genetic alterations or epigenetic changes, not screened for in this study, could also be responsible for parathyroid tumorigenesis in lithium-associated HPT.

HPT

tumorigenesis


Input: Positive EGFR (E746-A750del) expression (n = 40/161, 25%) was not associated with any clinicopathological characteristics, prognostic factors, social habits (smoking, alcohol consumption), or tumour-specific survival.

EGFR

smoking


Input: Hepatoma Hep3B and Huh7 cells displayed stronger ATX expression than hepatoblastoma HepG2 cells and normal hepatocytes did.

ATX

hepatoblastoma


Input: Mutations in FGFR1/FGF8/PROKR2 contributed to 7. 8% of our patients with CPHD/SOD.

SOD

SOD


Input: Hypoxia induced TGF-β1 expression in PC3 prostate cancer cells, and the TGF-β type I receptor (ALK5) kinase inhibitor partially blocked hypoxia-mediated VEGFA (165) secretion.

VEGFA

hypoxia


Input: We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.

neutrophilia


Input: As an alternate approach, we profiled 65 BLC cases using single-nucleotide polymorphism arrays to define a signature of BRCA1-associated genomic instability.

genomic instability


Input: Evidence indicates that factor VII plays a role in vivo in both hemostasis and atherogenesis and it might be assumed that factor VII deficiency would both predispose to excessive bleeding and forestall atherosclerosis.

factor VII

atherogenesis


Input: Twenty percent of patients with Acute Myeloid Leukemia (AML) carry a translocation between chromosomes 21 and chromosome 8 resulting in the formation of a chimeric oncoprotein AML1-ETO.

translocation


Input: By contrast, two patients who received G-CSF with 30 mg/kg of VP-16 developed hyperbilirubinemia and veno-occlusive disease, which terminated this phase I study.

G-CSF

hyperbilirubinemia

G-CSF

hyperbilirubinemia


Input: In C. elegans, we demonstrate that RTCB-1 is necessary for xbp-1 (worm homolog of HAC1) mRNA splicing.

RTCB

worm


Input: Transcript upregulation of anti-oxidative enzymes (Aldh1a1 and Nqo1), cell cycle-related molecules (Cdc20 and Cdkn2b) and inflammation-related molecules including proinflammatory cytokines (Ccl2, Col1a1, Il6, Nos2 and Serpine1) was also evident.

inflammation


Input: In this report, a 2. 5-kb truncated version of the L-plastin promoter was placed 5' to the E1A gene of a wild-type adenovirus.

L-plastin

adenovirus


Input: BP1, a homeoprotein, is significantly expressed in prostate adenocarcinoma and is concordant with prostatic intraepithelial neoplasia.

prostatic intraepithelial neoplasia


Input: In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile.

female sterility


Input: In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS.

ELN

SVAS

ELN

SVAS


Input: Consequently, Foxo3-deficient mice exhibited reduced susceptibility to experimental autoimmune encephalomyelitis.

experimental autoimmune encephalomyelitis

experimental autoimmune encephalomyelitis


Input: AAV-mediated delivery of hIFN-beta when used as monotherapy was able to restrict neuroblastoma growth due in part to inhibition of angiogenesis.

AAV

neuroblastoma


Input: Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 and ETO fusion gene partners, opening a novel window to understand the onset/development of leukemia.

translocation


Input: Adora2B (f/f)-LysM (Cre) mice presented with attenuated fibrosis, improved lung function, and no evidence of PH compared with control mice exposed to BLM.

fibrosis


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

ERK

hypertrophy


Input: Here we reported that ischemia/reperfusion significantly elevated Cdc42 activity, enhanced assembly of the Cdc42-MLK3 complex and activation of JNK pathway.

ischemia


Input: Our results indicate that restoration of wt p53 function in OS cells provides a basis for novel approaches to treatment of this disease.

OS

OS


Input: Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

DAVID

DAVID


Input: Here, we report that etoposide induced 2. 4 (EI24) has a multifaceted role against tumor progression that is regulated by both EMT and inflammation.

EMT

tumor progression


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


Input: We observed a significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex (DLPFC) in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder, but not in individuals with schizophrenia, major depressive disorder or in controls.

MR-GEF

major depressive disorder

MR-GEF

major depressive disorder


Input: Mucopolysaccharidosis (MPS) IIIC is an autosomal recessive lysosomal storage disorder caused by a deficiency in heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT).

HGSNAT

lysosomal storage disorder


Input: A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.

cytochrome b

histiocytoid cardiomyopathy

cytochrome b

histiocytoid cardiomyopathy


Input: Furthermore, we examined orthotopic transplantations of the HCC cell lines in C. B-17/Icrj-scid/scid mice and characterized the histologic and cytologic differentiation of the tumors that developed.

HCC

scid


Input: We showed that treatment with HGF protected hippocampal cornu ammonis (CA) subregion 1 neurons from apoptotic cell death after transient forebrain ischemia.

HGF

ischemia


Input: Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

spastic paraplegia 17

spastic paraplegia 17


Input: Women with higher than 15% cumulative lifetime risk (CLTR) of breast cancer were screened with biannual clinical breast examination and annual mammography and magnetic resonance imaging (MRI).

MRI

breast cancer


Input: The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD).

pituitary hormone deficiency


Input: Using flow cytometry, we further demonstrated that there was a reduction in B cells (CD19 +), switched memory B cells (CD27 + IgD-) and T follicular helper (Tfh) cells (both CD4 + CXCR5 + and CD4 + CXCR5Hi) in a CVID patient with NFKB2/p100 & #916; 19, compared to healthy controls.

CVID

CVID


Input: Apolipoprotein A-I Q [-2] X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.

Apolipoprotein A-I

apolipoprotein A-I deficiency

Apolipoprotein A-I

apolipoprotein A-I deficiency


Input: This was not specific to PD as OPN protein expression was also decreased in the SN in multiple system atrophy and progressive supranuclear palsy with an identical localisation of the protein.

OPN

multiple system atrophy


Input: SCFL is suspected when tumor cells express BCL2 protein, reflecting a BCL2 translocation.

translocation


Input: The study aim was to examine levels of circulating CD4 + CD25 + T cells in patients with rheumatic mitral stenosis, and to evaluate the relationship between regulatory CD4 + CD25 + T-cell count and clinical and echocardiographic measures.

rheumatic mitral stenosis


Input: The amounts of CD4 +, CD8 + and CD56 + and ThPOK + cells infiltrate in normal colorectal mucosa (NM), in dysplastic aberrant crypt foci (microadenomas, MA), the earliest detectable lesions in colorectal carcinogenesis, and in colorectal carcinomas (CRC), were measured, and the colocalization of ThPOK with the above-mentioned markers of immune cells was evaluated using confocal microscopy.

aberrant crypt foci


Input: Expression of insulin-like growth factor I (IGF-I) gene and of genes for IGF-binding proteins 1, 2, 3, 4 (IGFBP-1-IGFBP-4) in non-neoplastic human thyroid cells and in certain human thyroid cancers. Effect of exogenous IGF-I on this expression.

non-neoplastic


Input: Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) consists of early bilateral optic atrophy, later development of spasticity, extrapyramidal dysfunction and occasionally cognitive deficits, and urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid.

MGA

3-methylglutaconic aciduria


Input: In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette' s syndrome and autistic traits, a de novo balanced t (3; 18) translocation truncated ZBTB20.

psychosis


Input: Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain.

merosin

severe mental retardation


Input: Genotypes of the alpha-chain of the receptor (GP Ib alpha, 145Thr/Met) were determined in 91 patients with myocardial infarction (MI) or angina pectoris whose lesions were confirmed by coronary angiography as well as in 105 individuals from the general population with no history of angina or other heart diseases and normal resting ECGs.

alpha-chain

angina


Input: We further used a chondrosarcoma cell line to study the effect of interleukin (IL)-1beta and hypoxia on the regulation of ADAMTS1 and VEGF-A expression.

VEGF-A

hypoxia


Input: The FTO minor allele at rs9939609 has been associated with body mass index (BMI: weight (kg)/height (m) (2)) in children from 5 years onwards, food intake, and eating behaviour.

FTO

height


Input: These retroviral vectors were transfected into an amphotropic packaging cell line, PA317 cells, by electroporation, and a human fibrosarcoma cell line, HT1080 cells, was used to assay the factor IX-virus titers of these four virus-producing PA317 cells, which ranged from 2 x 10 (4) to 5 x 10 (5) cfu/ml.

factor IX

fibrosarcoma


Input: Stable overexpression of AEG1 converted nontumorigenic human HCC cells into highly aggressive vascular tumors, and inhibition of AEG1 abrogated tumorigenesis by aggressive HCC cells in a xenograft model of nude mice.

tumorigenesis


Input: Bcl-2 protein expression associated with resistance to apoptosis in clear cell adenocarcinomas of the vagina and cervix expressing wild-type p53.

clear cell adenocarcinomas

clear cell adenocarcinomas


Input: Tamoxifen-triggered GRK2 deletion impeded further body weight gain, normalized fasting glycemia, improved glucose tolerance, and was associated with preserved insulin sensitivity in skeletal muscle and liver, thereby maintaining whole-body glucose homeostasis.

body weight gain


Input: The hypotension response to acetylcholine and bradykinin studied in anesthetized NO-compromised rats, was unexpectedly enhanced.

bradykinin

hypotension

bradykinin

hypotension


Input: Here we used NPSR1 gene-targeted mice to define the functional role of NPSR1 under basal conditions on locomotion, anxiety-and/or depression-like behavior, corticosterone levels, acoustic startle with prepulse inhibition, learning and memory, and under NPS-induced locomotor activation, anxiolysis, and corticosterone release.

NPS

depression

NPS

depression


Input: However, smoking and gender status could affect the occurrence of EGFR mutation.

EGFR

smoking


Input: The inhibition of cardiac remodeling by of PICOT with a concomitant increase in ventricular function and cardiomyocyte contractility suggests that PICOT may provide an efficient modality for treatment of cardiac hypertrophy and heart failure.

PICOT

cardiac hypertrophy

PICOT

cardiac hypertrophy


Input: The Purkinje cell degeneration (pcd) phenotype is characterized by adult onset neurodegeneration resulting from mutations in Nna1, a gene encoding an intracellular protein with a putative metallocarboxypeptidase domain.

neurodegeneration

neurodegeneration


Input: Addition of stavudine to the infected aggregates, even in the presence of GM-CSF, reduced p24 levels to zero and prevented neuronal loss and astrocytosis.

astrocytosis


Input: The products of these genes were: CSF-1 receptor, which is a receptor of inflammatory cytokines that activates monocyte/macrophages; TGF-beta type II receptor, which is a receptor of TGF-betas involved in wound healing and fibrosis; a subunit of Na +/K (+)-ATPase, an amiloride-sensitive cation channel, and a subunit of the potassium channel, all of which regulate the alveolar fluid balance and play a role in clearing lung edema; the adenosine A2a receptor, which has a protective function in the lung and interacts with dopamine D1 and D2 receptors to regulate the function of amiloride-sensitive cation channels; cofilin, which is involved in the depolymerization and cleavage of actin filaments; LIM motif-containing protein kinase 1, which negatively regulates the activity of cofilin; SHPS-1, which regulates the integrin-mediated reorganization of the cytoskeleton; and sodium channel beta 2, which is involved in cell adhesion and migration.

lung edema


Input: In the in vivo focal cerebral ischemia model and the in vitro hypoxic cell culture model with cobalt, BAI2 expression decreased after hypoxia and preceded the increased expression of vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

pituitary hormone deficiency


Input: Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR.

MMR

microsatellite instability


Input: Betel quid (BQ) chewing is an etiologic factor of oral cancer and submucus fibrosis (OSF).

OSF

oral cancer


Input: VEGF mRNA was found to be elevated in the peripheral, avascular retina of the untreated eye, consistent with the hypothesis that retinal hypoxia stimulates VEGF expression.

VEGF

hypoxia


Input: When DR1 mice were coimmunized with CII and CII (256-276, N (263), D (266)), the incidence and severity of arthritis were greatly reduced, as was the antibody response to CII.

arthritis


Input: Collectively, these studies indicate that podocyte VEGF-A regulates alpha (V) beta (3) integrin signaling in the glomerulus, and that podocyte VEGF knockdown disrupts alpha (V) beta (3) integrin activity via decreased VEGFR2 signaling, thereby damaging the three layers of the glomerular filtration barrier, causing proteinuria and acute renal failure.

acute renal failure


Input: In this study, we aimed to evaluate SRC, LYN and CKB protein and mRNA expression, as well as their promoter methylation, in gastric cancer.

CKB

gastric cancer


Input: Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD.

DD

DD


Input: Serum vitamin D metabolites, the renal tubular maximum reabsorptive rate for phosphate (TMP/GFR) nephrogenic cyclic AMP (NcAMPI, and CaE (urinary calcium excretion per litre of glomerular filtrate) were measured in 14 adults with familial hypocalciuric hypercalcaemia (FHH).

GFR

familial hypocalciuric hypercalcaemia


Input: Importantly, targeting suppression of autophagy by minimally toxic concentrations of pharmacologic inhibitors (hydroxychloroquine and 3-methyladenine) or short hairpin RNAs against autophagy genes, Beclin 1 and Atg5, dramatically augments proapoptotic activity of DNA-damaging chemotherapy both in vitro using MM cell lines or purified patient MM cells and in vivo in a human plasmacytoma xenograft mouse model.

Beclin 1

plasmacytoma


Input: Alpha-globin genotype was determined by PCR-based method in 526 adult subjects with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal hemoglobin A2 and F, and normal serum iron.

MCH

mean corpuscular volume


Input: Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

Fas

autoimmune lymphoproliferative syndrome

Fas

autoimmune lymphoproliferative syndrome


Input: We previously isolated the AML1 gene, which is rearranged by the t (8; 21) translocation in acute myeloid leukemia.

translocation


Input: Here we report that the inhibitor of apoptosis survivin is expressed in vitro in human prostate cell lines with the highest levels present in aggressive prostate cancer cells such as PC3 and LNCaP-LN3 as well as in vivo in prostatic adenocarcinoma.

prostatic adenocarcinoma


Input: Aimed to contribute to the study of nervous plasticity modulation as therapeutical target in mood disorders, the role of the glial-derived factor artemin (ARTN) in depression and in the pharmacodynamics of the antidepressant and trophic compound acetyl-L:-carnitine (ALCAR) was evaluated.

ARTN

nervous


Input: Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 16% increased risk of being overweight (p = 0. 001 and p = 0. 004, respectively).

FTO

overweight


Input: High level of microsatellite instability (MSI-H) in colorectal cancer (CRC) is caused by the inactivation of mismatch repair (MMR) genes; however, it is unknown for tumors with low level MSI (MSI-L).

MMR

microsatellite instability


Input: We identified a novel frameshift mutation in NR3C1 as the cause of glucocorticoid resistance.

glucocorticoid resistance

glucocorticoid resistance


Input: We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.

filamin B

distal myopathy


Input: These genes included CDH1 (cadherin 1, type 1, E-cadherin), CDKN1A (cyclin-dependent kinase inhibitor 1A), CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), GSTM1 (glutathione S-transferase mu 1), GSTT1 (glutathione S-transferase theta 1), MTHFR (5, 10-methylenetetrahydrofolate reductase), NOS3 (nitric oxide synthase 3), OPA1 (optic atrophy 1), TNF (tumor necrosis factor), and TP53 (tumor protein p53).

tumor necrosis factor

optic atrophy 1


Input: Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: The deficiency of the DNA mismatch repair (MMR) system is involved in tumorigenesis of either familial or sporadic colorectal cancers showing microsatellite instability (MSI).

MMR

microsatellite instability


Input: Here we studied the role of ARHGAP21 in two prostate adenocarcinoma cell lines, LNCaP and PC3, which respectively represent initial and advanced stages of prostate carcinogenesis.

prostate adenocarcinoma


Input: In a comprehensive mutational screening, we have analysed the entire coding region of the pM5, MRP1, and NPIP genes in 7 patients affected with pseudoxanthoma elasticum, but failed to find evidence of disease-causing defects in any of these three genes.

pseudoxanthoma elasticum


Input: BRCA1-related breast cancers are characterized by poor prognosis, a low rate of estrogen receptor positivity, and histological predominance of solid-tubular carcinoma.

tubular carcinoma


Input: Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

pigmentation


Input: TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Joubert syndrome

Joubert syndrome


Input: Patients with locally recurrent or metastatic, radioiodine-refractory thyroid cancer, excluding medullary carcinoma, were treated with interferon alpha-2b 12 million units/m2 subcutaneously on days 1-5 and doxorubicin 40 mg/m2 intravenously, on day 3, every 28 days.

interferon alpha-2b

thyroid cancer

interferon alpha-2b

thyroid cancer


Input: Here, we discuss the contribution of EZH2 and the PRC2 complex in controlling the H3K27 methylation status and subsequent consequences on genomic instability and the cell cycle in breast cancer cells.

genomic instability


Input: No statistical significance was noted for sex, lymphadenopathy, hepatomegaly, splenomegaly, other hematological findings, immunophenotyping and FAB sub-classification except for ERG gene and FAB (p-value = 0. 058).

FAB

hepatomegaly


Input: Genetic variations in the IL-17A and IL-17F genes may be associated with a risk of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), which is a typical inflammation-related cancer.

inflammation


Input: Mice lacking the Tak1 gene in brain endothelial cells showed a blunted fever response and reduced lethargy upon intravenous injection of the endogenous pyrogen IL-1 & #946;.

lethargy

lethargy


Input: Elevated alcohol consumption in null mutant mice lacking 5-HT1B serotonin receptors.

alcohol consumption


Input: Using different renal cell models and small interfering RNA assays targeting either HIF-1alpha or YC-1, a HIF-1 pharmacologic inhibitor, we showed induction of MUC1 expression under hypoxia by a HIF-dependent mechanism.

hypoxia


Input: In clinically derived HNSCC samples, CYGB mRNA expression showed a striking correlation with tumour hypoxia (measured by HIF1A mRNA expression P = 0. 013) and consistent associations with histopathological measures of tumour aggression.

CYGB

aggression


Input: RNA interference of CCR2 expression in breast cancer cells significantly inhibited CCL2-induced migration, survival, and phosphorylation of Smad3 and p42/44MAPK proteins.

breast cancer


Input: Support of association between BRD1 and both schizophrenia and bipolar affective disorder.

bipolar affective disorder

bipolar affective disorder


Input: Of these, four had ankylosing spondylitis and histocompatibility B27 antigen, two had systemic lupus erythematosus (in one case associated with antiphospholipids), one had juvenile rheumatoid arthritis, and one had juvenile dermatomyositis.

juvenile dermatomyositis


Input: Thus, IL-10 mRNA expression in leukaemic cells from patients with B-CLL was strongly associated with non-progressive disease.

non-progressive


Input: In both fat depots, OCT1 gene expression and protein levels were significantly increased in obese subjects.

obese

obese


Input: We find that alterations in CHD7 can result in a very mild phenotype, characterized by only a few minor symptoms of the CHARGE syndrome clinical spectrum.

CHARGE syndrome

CHARGE syndrome


Input: For example, the oncogenic AML1-ETO protein, which results from a chromosomal translocation between chromosomes 8 and 21, is expressed in nearly 25% of all acute myelogenous leukemias, disrupts Runx1 subnuclear localization during interphase and compromises transcriptional regulation.

chromosomal translocation


Input: Age at diagnosis, family history, and alcohol use did not interact with MSH6 G39E and CIMP.

alcohol use


Input: The suppression of tumorigenesis by IL-27 on lung cancer cells was further confirmed by the treatment with rIL-27 on the murine LLC-1 and human non-small cell lung carcinoma (NSCLC) cell lines.

tumorigenesis


Input: Intravenous administration of HN3-PE38 alone, or in combination with chemotherapy, induces regression of Hep3B and HepG2 liver tumour xenografts in mice.

regression


Input: These data provide evidence that human MCC deficiency is caused by mutations in either the MCCA or MCCB gene.

MCCA

MCC deficiency

MCCA

MCC deficiency


Input: Loss of PTEN, an upstream regulator of mTORC1 signaling, along with Lkb1 deletion significantly increased tumor burden in uteri and induced tumorigenesis in the cervix and vagina.

tumorigenesis


Input: After adjusting for sex, smoking, stage, histology, and adjuvant treatment, high FGFR1 amplification had a greater risk of recurrence (adjusted hazard ratio [AHR], 1. 6; P = 0. 029) and death (AHR, 1. 53; P = 0. 050).

AHR

smoking


Input: Optical imaging of atheroma revealed > 100% NIRF signal increases in apolipoprotein E-/-mice in vivo (n = 13; P < 0. 05, CatK imaging agent versus control agent) and in human carotid endarterectomy specimens ex vivo (n = 14; P < 0. 05).

NIRF

atheroma


Input: Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females.

MIM

neurological disorder


Input: FJB-positive somata were most abundant in the infarct core at 1 DPL, decreased markedly at 3 DPL, and virtually absent by 7 DPL.

DPL

infarct


Input: Adjusted by age, gender, parent asthma history, and smoking exposure, logistic stepwise analysis showed that MAF of rs4790521, allozygote C/C of rs4790521, and haplotype C/C were associated with susceptibility to childhood asthma in Chinese Han Nationality in Beijing (P < 0. 05).

MAF

childhood asthma


Input: Lichenoid drug eruptions (LDE) in the oral cavity are adverse drug reactions (ADR) that are impossible to differentiate from oral lichen planus (OLP) as no phenotypic criteria exist.

LDE

oral lichen planus


Input: To study the activity of telomerase and the expression of human telomerase reverse transcriptase (hTERT) in colorectal carcinoma and its adjacent tissues, normal mucosa and adenomatoid polyp, and to evaluate their relation with carcinogenesis and progression of colorectal carcinoma.

telomerase reverse transcriptase

polyp


Input: After excluding 149 persons with glaucoma, male sex, higher IOP, lower diastolic blood pressure, lower body mass index, and diabetes mellitus were significant predictors of greater CDR.

CDR

body mass index


Input: One major reason for low FDG uptake in signet-ring cell carcinoma is the low GLUT-1 expression in this histological subtype of gastric cancer.

FDG

signet-ring cell carcinoma


Input: We previously showed that the B cell leukemia cell line NALM-6 had the highest susceptibility among a number of leukemia cell lines to spiruchostatin B (SP-B), a potent histone deacetylase (HDAC) inhibitor.

SP-B

leukemia


Input: Forty-eight hours following tMCAO, a 1. 3-fold larger infarct volume and 1. 3-fold higher NSS were observed in the rAAV-VEGF group than both control groups (p < 0. 05).

VEGF

infarct


Input: The anti-apoptotic BH3 family gene BCL-XL emerged as a top hit through this approach.

BCL-XL

hit


Input: Genome wide association studies have revealed HNF1b to be a major risk gene for prostate cancer susceptibility.

prostate cancer susceptibility


Input: (S)-nitrosation of Keap1 may contribute to nuclear accumulation of Nrf2 by facilitating its dissociation from Keap1, thus initiating * NO-mediated Nrf2-Keap1 signaling.

dissociation


Input: This effect of bcl-2 was independent of its antiapoptotic activity because increased expression of VEGF was detected in PC3 cells overexpressing bcl-2 even though PC3 cells are inherently resistant to hypoxia-induced apoptosis.

VEGF

hypoxia


Input: The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

alpha-synuclein

Lewy body dementia

alpha-synuclein

Lewy body dementia


Input: Adult PACAP (-/-) mice showed not only hyperactivity, jumping behavior, and depression-like behavior, but also decreased social interaction.

PACAP

depression

PACAP

depression


Input: In this process, TRIP-Br1 confers resistance to serum starvation-induced cell deaths by stabilizing the XIAP protein and inhibiting cellular ROS production.

starvation


Input: The 22q11. 2 deletion syndrome (22q11. 2DS) is caused by a microdeletion on chromosome 22, which includes the GPIbβ gene, and is characterized by abnormal development of the pharyngeal apparatus and heart.

GPIbβ

abnormal development


Input: Accordingly, inactivation of ERK5 in keratinocytes prevents inflammation-driven tumorigenesis in this model.

tumorigenesis


Input: The distribution of mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome.

FLNB

Larsen syndrome

FLNB

Larsen syndrome


Input: Moreover, L-PGDS is undetectable in most benign nevus cells, which may reflect the marginally accelerated proliferation of nevus cells.

L-PGDS

nevus


Input: Combination of short CAG and GGN repeats in the androgen receptor gene is associated with acne risk in North East China.

GGN

acne


Input: We have previously shown that AML1/MDS1/EVI1 (AME), a fusion gene generated by a t (3; 21) (q26; q22) translocation found in patients with chronic myelogenous leukemia during blast phase, myelodysplastic syndrome, or acute myelogenous leukemia (AML), impairs hematopoiesis and eventually induces an AML in mice.

translocation


Input: In a murine model of asthma, we found that intranasal application of WSC attenuates Der f-induced lung inflammation by reducing infiltration of inflammatory cells, epithelial damage, and goblet cell hyperplasia and markedly decreasing production of Arg I, iNOs, and thymic stromal lymphopoietin (TSLP) in the bronchial epithelium.

TSLP

hyperplasia


Input: Therefore, we investigated whether Gyp induced DNA damage and DNA repair gene expression in human oral cancer SAS cells.

SAS

oral cancer


Input: Genetic variation in alcohol dehydrogenase (ADH1A, ADH1B, ADH1C, ADH7) and aldehyde dehydrogenase (ALDH2), alcohol consumption and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.

alcohol consumption


Input: To evaluate the effects of dexloxiglumide, a CCK-1 receptor antagonist, on gastrointestinal transit (GIT) and symptoms in patients with constipation-predominant IBS (C-IBS); and to explore the influence of CCK-1 receptor polymorphisms on gut transit and the pharmacodynamic response to therapy.

CCK

constipation


Input: However, the exact role of the beta2 toxin in the development of diarrhoea is still unknown.

diarrhoea


Input: The experiments indicate that MT3 is an androgen-upregulated gene, and promotes tumorigenesis of prostate carcinoma cells.

prostate carcinoma


Input: Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the HSAN I phenotype.

HSAN I

HSAN I


Input: Here, we report that human malignant glioma cell lines express XIAP, HIAP-1 and HIAP-2 mRNA and proteins.

malignant glioma


Input: We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals.

spondylitis


Input: To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS).

FUS gene

sporadic


Input: In the present study, the effect of SIRT6 on cardiac hypertrophy induced by angiotensin II (AngII) and the underlying molecular mechanisms were investigated.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: A phase II trial of combination chemotherapy and surgical resection for the treatment of metastatic adrenocortical carcinoma: continuous infusion doxorubicin, vincristine, and etoposide with daily mitotane as a P-glycoprotein antagonist.

P-glycoprotein

adrenocortical carcinoma

P-glycoprotein

adrenocortical carcinoma


Input: Increased IL-4 production by HIV-1 p24-activated immunocompetent cells of patients and a predominant IL-4 response to HIV-1 p24 (with IL-4/IFN-gamma > 1) were positively correlated with an increased viral load.

viral load


Input: The decrease of NF-kappaB p65 subunit and up-regulation of IL-2 are potential mechanism of glucocorticoid resistance in SRNS.

NF-kappaB

glucocorticoid resistance


Input: When the effects of sertraline were analyzed in relation to the 5-HTTLPR polymorphism, only patients with the " l/l " allelic variant had significantly lower scores of HADS anxiety, Mini-MAC hopelessness-helplessness and anxious preoccupation, and a higher score for the fighting spirit of Mini-MAC; the depression score was significantly reduced in patients with both allelic variants.

MAC

anxiety


Input: Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.

systemic lupus erythematosus

systemic lupus erythematosus


Input: CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, were found to be methylated in at least one of 8 breast cancer cell lines.

breast cancer

breast cancer


Input: An ESR1 mutation was identified in 2 sisters and 1 brother, originating from a consanguineous Algerian family, who did not enter puberty and presented with delayed bone maturation consistent with estrogen insensitivity.

estrogen insensitivity

estrogen insensitivity


Input: As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.

major depression

major depression


Input: Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.

hand-foot-genital syndrome

hand-foot-genital syndrome


Input: The PAX5 gene is involved in medulloblastoma, non-Hodgkin' s lymphoma, transitional cell carcinoma of the bladder, neuroblastoma, breast cancer and SCC.

PAX5 gene

neuroblastoma


Input: Prominent ClC-2,-3, and-5 channel expression was also detected in acute patient biopsies from low-and high-grade malignant gliomas.

malignant gliomas

malignant gliomas


Input: In this study, we analyzed a large-scale database to discriminate the survival impact of EGFR mutations against those of sex and smoking after gefitinib therapy.

EGFR

smoking


Input: Variants of SORL1 previously associated with AD are also associated with MRI and neuropathological measures of neurodegenerative and cerebrovascular disease.

MRI

cerebrovascular disease


Input: The secondary PCR products of nine exons of the CYP11B1 gene were then subjected to single-strand conformation polymorphism (SSCP) analysis and DNA sequencing.

CYP11B1 gene

secondary


Input: (2) There is no difference in the frequency of loss of heterozygosity at HSECAD among RER +, RER-and ulcerative colitis associated colorectal cancers.

RER

ulcerative colitis


Input: APOBEC3G enhances lymphoma cell radioresistance by promoting cytidine deaminase-dependent DNA repair.

cytidine deaminase

lymphoma


Input: A total of 120 plasma samples from individuals infected with HIV-1 strains belonging to group M (subtypes A--> H) and group O, as well as recombinant strains, were tested in parallel with the heat-denatured signal-amplified p24 assay and the RNA viral load.

viral load


Input: ii) Our results molecularly support a recent randomized double-blind placebo-controlled clinical trial suggesting that ALA may be a potential dietary alternative or adjunct to currently used drugs in the management of HER2-positive breast carcinomas.

blind


Input: The COMT Val158Met polymorphism has been associated with anxiety and affective disorders, but its effect on anxiety-related personality traits varies between studies.

COMT

personality traits


Input: Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

phenylalanine hydroxylase

Phenylketonuria

phenylalanine hydroxylase

Phenylketonuria


Input: RESULTS: The data showed PROM1 (p. S281R) and CRTC2 (p. R379C) mutations, in 5 and 2 cases of these 343 sporadic lung cancer patients, respectively.

sporadic


Input: Human teratocarcinoma Ntera2/c 1. D1 (NT2) cells express very low levels of the prohormone convertase enzyme PC1, moderate levels of PC2 and significant levels of PC5.

teratocarcinoma


Input: HOTAIR levels were significantly higher in LSCC than in corresponding adjacent non-neoplastic tissues, and patients with poor histological grade or advanced clinical stage had higher HOTAIR expression.

HOTAIR

non-neoplastic


Input: GRP is an ubiquitous food protein that has high homology with cytokeratins and other self proteins [Epstein-Barr virus nuclear antigen-1 (EBNA-I), heterogeneous nuclear ribonucleoprotein, fibrillar collagen] which are common targets in autoimmune disorders.

GRP

autoimmune disorders


Input: Intravenous delivery of mesenchymal stromal cell-derived exosomes (MEX) inhibited vascular remodeling and hypoxic pulmonary hypertension, whereas MEX-depleted media or fibroblast-derived exosomes had no effect.

MEX

pulmonary hypertension


Input: Overexpression of MKL1 potentiated the induction of MMP9 transcription by hypoxia and TGF-β, whereas MKL1 silencing diminished MMP9 expression.

TGF-β

hypoxia


Input: Our objective was to demonstrate the feasibility of brightfield break-apart in situ hybridization (ba-ISH) for anaplastic lymphoma kinase (ALK) and mucosa-associated lymphoid tissue translocation protein 1 (MALT1) genes as models.

translocation


Input: We found that A (3) antagonists inhibit adenosine-induced HIF-1alpha and VEGF protein accumulation in the hypoxic cells.

VEGF

hypoxic


Input: To evaluate Siglec-1 protein (CD169) and mRNA levels in peripheral blood monocytes of patients with primary biliary cirrhosis (PBC) and investigate its role in PBC pathogenesis by looking for correlations between Siglec-1 expression and key PBC associated biochemical indices.

primary biliary cirrhosis


Input: ClC-5 KO mice were euthyroid (normal T4 and TSH serum levels) but developed a goiter with parallel iodine and Tg accumulation (i. e. normal Tg iodination level).

goiter

goiter


Input: We present six new cases of sarcoma that had in common the same chromosome abnormality, i. e., a balanced translocation between chromosomes X and 18, t (X; 18) (p11. 2; q11. 2), and evaluate the 15 cases with this translocation in the literature.

chromosome abnormality


Input: Several mammalian Notch receptors are oncogenic when constitutively active, including Notch1, a gene initially identified based on its involvement in a (7; 9) chromosomal translocation found in sporadic T-cell lymphoblastic leukemias and lymphomas (T-ALL).

sporadic


Input: T-cell responses to PGP proteinase 3 and human neutrophil elastase were observed in CD8 + and CD4 + T cells only in patients with myeloid leukemias.

myeloid leukemias


Input: Transient hypoglycemia, rebound hyperglycemia, elevations in serum cortisol, and C-reactive protein were observed.

C-reactive protein

hypoglycemia


Input: FISH analyses with AML1 probes at 21q22 proved in all 3 patients splitting of the AML1 gene at a region spanning exons 5 and 6 and the translocation of its 5' segment to distal 16q.

translocation


Input: Defects in the DNA mismatch repair (MMR) proteins, result in a phenotype called microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers.

MMR

microsatellite instability


Input: Therefore, the OPCML gene is considered to be a schizophrenia-susceptible gene in the Thai population.

OPCML

schizophrenia

OPCML

schizophrenia


Input: Although the bone exposure phenotype of ONJ was predominantly observed in WT ZOL mice, Tcrd (-/-) ZOL mice developed the pustule/fistula disease phenotype.

Tcrd

pustule


Input: In addition to this translocation, a pericentric inversion within chromosome 10 and with a cryptic t (10; 11) were detected by SKY in the second case.

SKY

translocation


Input: As CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis.

HDLS

HDLS


Input: The I2020T Leucine-rich repeat kinase 2 transgenic mouse exhibits impaired locomotive ability accompanied by dopaminergic neuron abnormalities.

Leucine-rich repeat kinase 2

abnormalities


Input: Frem1 (eyes2) mice have eye defects, renal agenesis and develop retrosternal diaphragmatic hernias which are covered by a membranous sac.

renal agenesis

renal agenesis


Input: More work is needed to elucidate the exact mechanisms of and the interrelationship between the actions of apoJ and to successfully achieve regression of atherosclerosis by regarding it as a therapeutic endpoint.

apoJ

regression


Input: In resected HCCs, PPARgamma expression was less compared with the histologically normal surrounding liver.

PPARgamma

HCC

PPARgamma

HCC


Input: Moreover, we show that low-dose IR induces a rapid phosphorylation of several endothelial cell proteins, including the Vascular Endothelial Growth Factor (VEGF) Receptor-2 and induces VEGF production in hypoxia mimicking conditions.

VEGF

hypoxia


Input: An ergostane type triterpenoid methylantcinate A (MAA) isolated from the fruiting bodies of Antrodia camphorata inhibited the growth of oral cancer cell lines OEC-M1 and OC-2 in a dose-dependent manner, without cytotoxic to normal oral gingival fibroblast cells.

MAA

oral cancer


Input: They had higher ST3Gal IV expression than patients without pulmonary hypertension (0. 73 vs 0. 29, p = 0. 04) and a higher ST3Gal IV/ST6Gal I ratio than patients without pulmonary hypertension (1. 03 vs 0. 27, p = 0. 03) and controls (1. 03 vs 0. 28, p = 0. 02).

ST6Gal I

pulmonary hypertension


Input: We assessed its effect in two rat models: streptozotocin (STZ)-induced diabetes, a model of early diabetic neuropathy characterized by demyelination, and acrylamide experimental neuropathy, a model of diffuse axonal neuropathy which, like late-onset human diabetic neuropathy, results in a diffuse sensorimotor neuropathy with dysautonomy.

STZ

sensorimotor neuropathy


Input: These results suggest that IFN-alpha gene therapy is a promising strategy to treat HCC patients who have concomitant liver cirrhosis.

IFN-alpha

HCC

IFN-alpha

HCC


Input: Pioglitazone inhibits growth of carcinoid cells and promotes TRAIL-induced apoptosis by induction of p21waf1/cip1.

TRAIL

carcinoid


Input: Hyalinizing spindle cell tumor with giant rosettes arising in the lung: report of a case with FUS-CREB3L2 fusion transcripts.

FUS

giant


Input: A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.

cytochrome c oxidase subunit I

Leber hereditary optic neuropathy

cytochrome c oxidase subunit I

Leber hereditary optic neuropathy


Input: These findings suggest that cyclinE1/CDK2 is an important therapeutic target in HGSC, but that resistance to CDK2 inhibitors may emerge due to upregulation of CDK2 target protein and through preexisting cellular polyploidy.

polyploidy


Input: In conclusion, adenocarcinomas with EGFR mutation had a distinctive clinico-pathological feature unrelated to smoking.

EGFR

smoking


Input: We propose that a low innate β-cell mass in the face of subsequent insulin resistance may expose β-cells to a burden of insulin and IAPP biosynthetic demand that exceeds the cellular capacity for protein folding and trafficking.

IAPP

insulin resistance


Input: OSM is expressed in most human brain tumors, but the effects on tumor cells are unclear.

OSM

brain tumors


Input: The aim of this study was to study the susceptibility of human leukemia cell lines to SP-B.

SP-B

leukemia


Input: Instead, KML001 specifically binds to telomeric sequences at a ratio of one molecule per three TTAGGG repeats leading to translocation of the telomerase catalytic subunit into the cytoplasm.

telomerase catalytic subunit

translocation


Input: To compare the cytokine expression profile of three CD8 +, three CD4 +, and three gammadelta + T cell clones all derived from the synovial fluids of three patients with reactive arthritis (ReA).

reactive arthritis


Input: In this study, we examined mismatch repair (MMR) protein expression (MLH1, MSH2, MSH6, and PMS2) in 60 endocervical adenocarcinomas, including variants (minimal deviation adenocarcinoma, mesonephric adenocarcinoma, adenosquamous carcinoma, clear cell carcinoma) and a series of well-characterized lower-uterine segment carcinomas of known endocervical or endometrial origin (n = 41).

clear cell carcinoma


Input: AT1R stimulation in wild-type animals led to activation of HSCs and fibrosis in vivo through phosphorylation of JAK2 and subsequent RhoA/Rho-kinase activation.

fibrosis


Input: These findings consist of experiments using methods that interfere with the function of DNA, using as constructs genes that have been implicated in dyslexia, which cause developmental problems of neuronal migration in rats, secondary brain changes in response to the migration problems, and abnormal processing of sounds.

neuronal migration

secondary


Input: Painful hypersensitivity to norepinephrine (NE) has been reported in various chronic pain conditions that exhibit sympathetically-maintained pain (SMP), particularly CRPS-I and II.

SMP

chronic pain


Input: The TNFR2 gene may be involved in weight-control mechanisms.

weight


Input: The HepG2 culture media containing elicited AFP was assessed for its ability to inhibit proliferation of T47D cells when applied to these human BC cells in culture, and to inhibit the estrogen-induced phosphorylation of the estrogen receptor in T47D cells.

AFP

BC

AFP

BC


Input: In Chuvash polycythemia, homozygous germline von Hippel-Lindau (VHL) 598C-> T leads to up-regulation during normoxia of hypoxia inducible factor-1a and several hypoxia-controlled genes including erythropoietin and VEGF.

VEGF

hypoxia


Input: β-arr1-β-catenin interaction controls β-catenin target gene expressions, such as ET-1, Axin 2, Matrix metalloproteinase 2, and Cyclin D1, by promoting histone deacetylase 1 (HDAC1) dissociation and the recruitment of p300 acetyltransferase on these promoter genes, resulting in enhanced H3 and H4 histone acetylation, and gene transcription, required for cell migration, invasion and epithelial-to-mesenchymal transition.

Matrix metalloproteinase 2

dissociation


Input: As a direct consequence, Kindlin-3 deficiency results in severe bleeding and resistance to arterial thrombosis.

bleeding

bleeding


Input: A total of 21 women undergoing PGD for DM1 were compared with 21 age-and body mass index-matched women undergoing PGD for other diseases.

PGD

body mass index


Input: Mutation of SLC9A1, encoding the major Na & #8314;/H & #8314; exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Lichtenstein-Knorr syndrome

Lichtenstein-Knorr syndrome


Input: Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life.

ALG11 gene

developmental delay


Input: In patients with stable coronary artery disease the CRP 1444TT and CD14 260TT variants are associated with larger coronary plaque volume independently of concomitant cardiovascular risk factors.

plaque