Input: The results provide strong evidence that MT-3 could be a biomarker for the development of high-grade bladder cancer and that the expression of the MT-3 gene is not involved in the in vitro malignant transformation of UROtsa cells by Cd (+ 2) and As (+ 3).

bladder cancer

bladder cancer


Input: To determine whether dynamic RA production acutely regulates Apoc3 expression, its mRNA levels in response to retinoid treatments or adenovirus-mediated overexpression of hepatocyte nuclear factor 4 alpha (HNF4α) and chicken ovalbumin upstream-transcription factor II (COUP-TFII) were analyzed.

hepatocyte nuclear factor 4 alpha

adenovirus


Input: We have sequenced the breakpoint regions in one acute myeloid leukemia (AML) with t (16; 21) (p11; q22) resulting in the formation of a FUS/ERG hybrid gene and in four myxoid liposarcomas (MLS), three of which had the translocation t (12; 16) (q13; p11) and a FUS/CHOP fusion gene and one with t (12; 22; 20) (q13; q12; q11) and an EWS/CHOP hybrid gene.

EWS

translocation


Input: A larger tumor size and heavier preoperative body weight was positively correlated with the relative expression of BRAF (V600E) mutation calculated by 2 (-△ △ Ct) method.

BRAF

body weight


Input: Gene polymorphisms at GSTM1, GSTT1, and GSTP1 in subjects with presbycusis were not significantly different than in the controls (p > 0. 05).

presbycusis


Input: Functional consequences of AXL sequence variants in patients with idiopathic hypogonadotropic hypogonadism support the importance of AXL and the Tyro3, Axl, Mer (TAM) family in reproductive development.

idiopathic hypogonadotropic hypogonadism


Input: Aim of the study was therefore to evaluate the reliability of TH1/TH2 cytokine profiles in two individuals with different types of an allergic/atopic disposition: one of them showed a strong TH1/type 1-mediated tuberculin-reaction (subject A), the other (subject B) revealed elevated IgE-levels and eosinophil counts (TH2/type 2-mediated).

atopic


Input: Thus, AT2 oligomers inducing Galphaq/11 arrest are causally involved in inducing symptoms of neurodegeneration.

neurodegeneration


Input: We studied a family with hereditary sensory motor neuropathy and deafness accompanying a missense mutation in the MPZ gene.

MPZ gene

deafness


Input: These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.

bipolar disorder

bipolar disorder


Input: Loss of PTEN permits CXCR4-mediated tumorigenesis through ERK1/2 in prostate cancer cells.

tumorigenesis


Input: The adhesion-induced, transient expression and secretion of procalcitonin and CGRP in vitro may play an important role during monocyte adhesion and migration in vivo.

CGRP

adhesion


Input: However, others and we have recently described cases of mild or asymptomatic immunodeficiencies with defects in either CIITA (class II transactivator) or RFX5, both proteins required for the transcription of HLA-D genes.

mild


Input: This was associated with increases in the numbers of leukemia-specific CD4 + T cells and high serum-levels of IL-12 and IFN-gamma.

leukemia


Input: Twenty high-grade VIN and 10 invasive cancer biopsies were assessed from Arnhem Land along with 24 high-grade VIN and 10 invasive cancer biopsies from other regions of NT.

VIN

invasive cancer


Input: Site-specific modification of apolipoprotein B by advanced glycosylation end-products: implications for lipoprotein clearance and atherogenesis.

apolipoprotein B

atherogenesis


Input: Intratracheal administration of TFPI limits airway obstruction, improves gas exchange, and prevents mortality in rats with sulfur mustard-analog-induced acute lung injury.

TFPI

airway obstruction

TFPI

airway obstruction


Input: Downregulation of AFP and STAT3 expression plays an important role in As (2) O (3)-induced apoptosis of AFPGC cells, which suggests a new mechanism of As (2) O (3)-induced cell apoptosis.

AFP

AFPGC

AFP

AFPGC


Input: The persistent abnormal glycosylation of serum glycoproteins seen with the microarray data indicates persisting metabolic dyshomeostasis and gene dysregulation in " treated " GAL.

GAL

abnormal glycosylation


Input: Recent studies on the torque teno virus (TTV), genus Anellovirus, have allowed formulating the hypothesis that TTV may trigger autoimmune rheumatic diseases or have some pathogenic role in them.

TTV

rheumatic diseases


Input: TSPY serves normal functions in male stem germ cell proliferation and differentiation, but is ectopically expressed in early and late stages of gonadoblastomas, testicular carcinoma in situ (the premalignant precursor for all testicular germ cell tumors), seminomas, and selected nonseminomas.

TSPY

premalignant


Input: Levels of the basic coagulation profile, fibrinogen, and factor VIII were within normal limits.

factor VIII

fibrinogen


Input: Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

osteoglophonic dysplasia

osteoglophonic dysplasia


Input: The upregulation of NF-kappaB-dependent interleukin-6 (IL-6) transcription and secretion that occurs following adhesion of myeloma cells to bone marrow stromal cells (BMSCs) may serve as a potential therapeutic target, as IL-6 is a growth and survival factor for myeloma cells.

NF-kappaB

adhesion


Input: Our results also suggest that NF-κB is involved in the PACT-PKR interaction and the production of pro-inflammatory cytokines in periodontitis.

PKR

periodontitis


Input: Mutated KIT and platelet-derived growth factor alpha gene (PDGFRA) drive GI stromal tumor (GIST) oncogenesis, but the clinical significance of their single mutations is known incompletely.

alpha gene

stromal tumor


Input: IR-inducible clusterin gene expression: a protein with potential roles in ionizing radiation-induced adaptive responses, genomic instability, and bystander effects.

clusterin gene

genomic instability


Input: The incidence of NTDs was 18% in fetuses exposed to VA alone, compared to 3. 7% and 2. 9% in fetuses exposed to IFN-gamma + VA, or GM-CSF + VA respectively.

GM-CSF

NTD

GM-CSF

NTD


Input: Patients undergoing ICSI (n = 508) were classified according to the referring indications as: (1) males with severe infertility (87 azoospermia and 34 oligoasthenoteratozoospermia, OAT), (2) prior to ICSI (56 males and 61 females), and (3) following an unsuccessful ICSI procedure (132 males and 138 females).

OAT

infertility


Input: Substance addiction, which includes alcohol, has been shown to involve the major nicotinic acetylcholine receptor subunit CHRNA5.

Substance addiction

Substance addiction


Input: Together, our data suggest that loss of a gene frequently silenced via epigenetic mechanisms, Hic1, can cooperate with loss of a gene mutated in GI cancer, Apc, to promote tumorigenesis in an in vivo model of multiple intestinal neoplasia.

tumorigenesis


Input: Because multiple renal cysts have never been reported in DDS, we explored several genes responsible for these renal manifestations, such as HNF-1β, PAX2, PKD1, and PKD2.

multiple renal cysts


Input: Our findings indicate an altered functional state of PCNA protein in the ischemia-sensitive CA1 neurons suggesting that DNA repair processes are affected in these post-mitotic cells following ischemia.

ischemia


Input: In conclusion, the data in Cameroonian diabetes patients suggest the existence of HLA class II predisposing and specific protective markers, but do not support previous reports of a primary association between HLA-DP polymorphism and development of type I diabetes.

HLA-DP

diabetes


Input: In this study, we sought to examine potential interactions between P22 (phox) genotypes, plasma vitamin E concentrations, and smoking in relation to CHD risk.

smoking


Input: LOX is a hypoxia-inducible amine oxidase, the activity of which enhances breast cancer cell invasion in vitro and in vivo.

LOX

hypoxia


Input: The role of sonic hedgehog signaling in the development of neuroblastoma has not been thoroughly investigated.

sonic hedgehog

neuroblastoma


Input: Repertoire alterations were more frequent in CD4-than in CD4 + cells and persisted despite undetectable viraemia.

viraemia


Input: Receiver operating characteristic curve analyses revealed that measurement of S100P in pancreatic juice was useful for discriminating neoplastic disease from chronic pancreatitis (area under the curve = 0. 837; 95% confidence interval, 0. 749-0. 903).

chronic pancreatitis


Input: Herein, we have tested the association of single nucleotide polymorphisms (SNPs) at TNF, IL10, MIF, DCSIGN, CLEC5A, NOD2, CCR5 and MRC1 as candidate genes using a matched case-control study design including 88 severe children cases of dengue patients and 335 healthy unrelated subjects that was also separated in IgG (+) and IgG (-) controls.

dengue


Input: We characterized the cellular localization and endoproteolysis of presenilin 2 (PS2) and presenilin 1 (PS1) in brains from 25 individuals with presenilin-mutations causing FAD, as well as neurologically normal individuals and individuals with sporadic Alzheimer' s disease (AD).

FAD

sporadic


Input: In the present study, we sought to test the hypothesis that pharmacological induction of insulin resistance in a mouse transgenic (TG) for human IAPP would induce islet amyloid and beta-cell dysfunction.

IAPP

beta-cell dysfunction


Input: However, immunoreactivities for these PGE (2) receptors increased in reactive glial cells in the vulnerable CA1 and hilar regions of rats subjected to lethal ischemia without ischemic preconditioning.

ischemia


Input: TH2 pathway genes (IL13, TSLP, IL33, and IL1RL1) conferring asthma susceptibility were not associated with lung function.

asthma susceptibility


Input: This finding suggests an important role of VEGF-A in the pathogenesis of airway scar formation and stenosis.

VEGF-A

scar


Input: We demonstrate that androgen receptor regulation of adhesion and invasion of prostate cancer cells through modulation of alpha6beta4 integrin expression may be one of the molecular mechanisms responsible of this phenomenon.

androgen receptor

adhesion


Input: Further studies revealed that ACRC, CLU, MEST, and NNAT were often hypermethylated in primary ES tumors.

ACRC

tumors


Input: Concomitant analysis of antiapoptotic proteins revealed that hypoxia induced expression of Bcl-2 and inhibitor of apoptosis proteins (IAP)-2 as well as proteins associated with anaerobic metabolism such as the glucose transporter protein GLUT-1 and the glycolytic enzyme Aldolase A.

Aldolase A

hypoxia


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

depression

depression


Input: We have identified and analyzed 41 mutations in p53 in sporadic breast tumors from 136 unselected breast cancer patients and estimate that approximately 40% of such tumors contain p53 mutations.

sporadic


Input: We screened all coding regions of the BCKDHA, BCKDHB and DBT genes for abnormalities using direct sequencing.

DBT

abnormalities


Input: Mice lacking the gene for brain tryptophan hydroxylase 2 are devoid of brain 5HT and respond to METH in the same manner as wild-type controls, despite showing enhanced drug-induced hyperthermia.

tryptophan hydroxylase 2

hyperthermia

tryptophan hydroxylase 2

hyperthermia


Input: Expression of ZNF396 in basal cell carcinoma.

basal cell carcinoma


Input: Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.

keratin 9

Epidermolytic palmoplantar keratoderma

keratin 9

Epidermolytic palmoplantar keratoderma


Input: PTPRK transcript levels were decreased in the primary tumours of patients who died from breast cancer or had metastases.

PTPRK

metastases


Input: We show for the first time that αvβ6 selectively induces matrix metalloproteinase 2 (MMP2) in vitro in multiple prostate cancer cells and promotes osteolysis in vivo in an immunodeficient mouse model of bone metastasis through upregulation of MMP2, but not MMP9.

osteolysis


Input: We measured the prevalence of ANA and antibodies against DNA, RNP, Sm, SSA, and SSB as well as antilymphocyte antibodies (ALA) in the serum of 24 patients with childhood onset SLE and 94 of their first degree relatives and compared the prevalence of these same antibodies in 8 patients with adult onset SLE and 33 of their first degree relatives.

ANA

childhood onset


Input: Formalin-fixed paraffin-embedded PC before H/T and HRPC for each patient were stained for osteocalcin.

osteocalcin

PC

osteocalcin

PC


Input: Studies also indicate that inflammatory cytokines upregulate the serotonin transporter (SERT), representing another mechanism by which inflammation could influence serotonin availability.

SERT

inflammation


Input: Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.

Max-interacting protein

Miller-Dieker syndrome

Max-interacting protein

Miller-Dieker syndrome


Input: Expression of pigmentation genes coding for tyrosinase, TRP-1 and TRP-2 correlated positively with that of EDNRB but negatively with EDNRA expression.

EDNRB

pigmentation


Input: The presence of both the ACE D and AT (1)-R C (1166) allele is associated with LV dilation with systolic dysfunction in genotyped HCM.

ACE

dilation


Input: To examine the possibility that hypermethylation serves as the second hit for FHIT inactivation, methylation of 5'-CpG islands of FHIT was analyzed by methylation-specific PCR.

FHIT

hit


Input: One pathway regulates the association between disrupted-in-schizophrenia 1 (DISC1) and DISC1-binding zinc-finger protein via PACAP, and the other inhibits stathmin1 expression via PACAP.

PACAP

schizophrenia 1


Input: B * 5701 + and B5703 + donors demonstrate broad functional cross-reactivity to both common and rare variants of a dominant p24 epitope, which could be relevant to the association of B * 57 alleles with slow progression to AIDS.

slow progression


Input: Using candidate gene identification based on prior biological knowledge and the functional prediction of rare variants, we identified several novel SQSTM1 mutations in patients with ALS.

ALS

ALS


Input: We identified a KCNQ1 missense mutation, KCNQ1 G325R, in an asymptomatic patient presenting with significant QT prolongation (QTc, 448-600ms).

asymptomatic


Input: Urine albumine/creatinine ratio (ACR), mean blood pressure (MBP) and index of glomerular filtration rate (GFR) based on S-creatinine were determined.

ACR

mean blood pressure


Input: This case-control study examined the prevalence of a prothrombin gene mutation in the 3'-untranslated region (UTR) first reported by Poort et al in Dutch subjects with a history of venous thrombosis and in matched control subjects without a history of thrombosis.

UTR

prothrombin gene mutation


Input: We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia.

sporadic


Input: The methylation and mRNA expression of LATS1 and LATS2 may provide useful clues to the development of the diagnostic assays for astrocytoma.

astrocytoma

astrocytoma


Input: Moreover, regardless of the 5T status, CFTR mutations appear not to be involved in female infertility.

CFTR

female infertility


Input: We examined the expression of various members of the OPG/RANKL/RANK axis in patients with stable and unstable angina and in the atherosclerotic lesions of apolipoprotein E-deficient (apoE (-/-)) mice.

apolipoprotein E

unstable angina


Input: This is the first description of an EFT with a complete EWS deficiency in the presence of two copies of a rearranged chromosome 22 carrying an interstitial EWS-FLI1 translocation.

EWS

translocation


Input: In this study, we established and employed the transwell co-culture system of rabbit aortic endothelial cells and smooth muscle cells to explore the relationship between fibrin (Fb), fibrinogen (Fg), and/or their degradation products (FDPs) in relation to the instability of atherosclerotic plaques; meanwhile, we observed the effects of Fg, Fb, and FDPs on the mRNA levels of MMPs and VEGF as well as on the activation of nuclear factor-kappa B (NF-κB).

NF-κB

fibrinogen


Input: We report a child with a 785kb deletion of the 3p14. 1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis.

contractures


Input: All HCC samples and ten patients with liver metastasis (52. 6%) exhibited APC promoter methylation.

HCC

liver metastasis


Input: Wnt5a induces ROR1/ROR2 heterooligomerization to enhance leukemia chemotaxis and proliferation.

leukemia


Input: The occurrence of CHK2 mutations in sporadic cancers emphasizes the importance of the stress pathway which includes TP53.

sporadic


Input: The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosomal recessive mode of inheritance of this enzymopathy.

GSH-S

enzymopathy

GSH-S

enzymopathy


Input: XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking.

smoking


Input: Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation.

Mohr-Tranebjaerg syndrome

Mohr-Tranebjaerg syndrome


Input: This was confirmed after adjustment for BP, insulin resistance, high-sensitivity C-reactive protein, cotinine, gamma-glutamyl transferase, and reactive oxygen species.

C-reactive protein

insulin resistance


Input: Nuclear factor erythroid 2-related factor 2 (Nrf2)-a transcription factor that promotes the expression of numerous antioxidant, anti-inflammatory, and neuroprotective proteins-was identified as a candidate for confirmation of mRNA expression in hippocampal tissue from patients with temporal lobe epilepsy and in mice following pilocarpine-induced status epilepticus (SE).

temporal lobe epilepsy


Input: Secondary acute monocytic leukemia with a translocation t (8; 16) (p11; p13): case report and review of the literature.

acute monocytic leukemia


Input: Increased synthesis of acute-phase proteins (APP) in the liver represents the most prominent aspect of acute phase reaction (APR).

APP

acute phase reaction


Input: The present study showed MLLT10 promiscuity in pediatric T-ALL and identified a specific MLLT10 signature within the HOXA subgroup.

T-ALL

T-ALL


Input: We investigated the molecular basis of hereditary coproporphyria in three unrelated patients, amplifying each exon of the coproporphyrinogen oxidase gene and performing heteroduplex analysis to look for mutations.

coproporphyrinogen oxidase

hereditary coproporphyria

coproporphyrinogen oxidase

hereditary coproporphyria


Input: In comparison with the low frequencies of RADs in the general population (about 0. 83%, including systemic lupus erythematosus, 0. 03%; dermatomyositis, 0. 04%; juvenile rheumatoid arthritis, 0. 03%; ankylosing spondylitis, 0. 01%; rheumatoid arthritis, 0. 62%; and other RAD, 0. 1%), there were surprisingly high frequencies of such disorders in this small group of patients with untreated hypogonadism (P < 0. 001) and very low serum testosterone levels (P = 0. 0005).

RAD

hypogonadism


Input: Since sporadic colon carcinomas exhibit in 50-60% mutations in the p53 gene and in 10-15% an MSI phenotype due in the great majority of the cases to hMLH1 inactivation, we investigated how these lesions influence the cellular effects of CPT-11 by using colorectal carcinoma cell line HCT116 (which has the genotype p53 (+/+), hMLH1 (-)) and 2 derivative cell lines with the genotypes p53 (+/+), hMLH1 (+) and p53 (-/-), hMLH1 (-).

sporadic


Input: Human c-Jun N-terminal kinase expression and activation in the nervous system.

Jun N-terminal kinase

nervous system


Input: These results add evidence supporting a role of LZTS1 in prostate cancer risk.

prostate cancer

prostate cancer


Input: The different techniques to detect MET/HGF abnormalities are examined and a description of compounds targeting MET/HGF is also provided.

HGF

abnormalities


Input: We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46, XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.

amenorrhea

amenorrhea


Input: We included 249 genotype C HBV infected patients: 39 asymptomatic carriers (AC), 68 with chronic hepatitis (CH), 75 with liver cirrhosis (LC), and 67 with HCC.

HCC

chronic hepatitis


Input: Transcriptional up-regulation of RhoE by hypoxia-inducible factor (HIF)-1 promotes epithelial to mesenchymal transition of gastric cancer cells during hypoxia.

RhoE

gastric cancer


Input: Myshkin mice (Myk/+) carry a heterozygous missense mutation in the neuronal Na (+), K (+)-ATPase & #945; 3 and model mania-related symptoms of bipolar disorder including increased activity, risk-taking behavior and reductions in sleep.

ATPase

bipolar disorder

ATPase

bipolar disorder


Input: We investigated the clinical significance of CD4 (+) CD25 (high) T regulatory (Treg) cells in hemophilia patients.

hemophilia


Input: The aim of the present study was to examine the association between the expression of insulin-like growth binding protein-1 and-2 (IGFBP1 and IGFBP2), insulin-like growth factor 2 mRNA binding protein 3/KH domain containing protein over-expressed in cancer (IGF2BP3/KOC1), and HtrA serine peptidase 1/serine protease with IGF-binding domain (HTRA1/PRSS11) genes and function of endoplasmic reticulum stress signaling mediated by ERN1 (endoplasmic reticulum to nucleus signaling 1) as well as the regulation of these genes by hypoxia in U87glioma cells.

hypoxia


Input: These data provide evidence that the proposed effect of MMP3 in the process of atherogenesis may be modified by the MMP3 genotype.

atherogenesis


Input: In vivo: liver tissues were obtained from 30 patients (10 chronic hepatitis, 7 cirrhosis, 13 HCC).

HCC

chronic hepatitis


Input: This study reveals sex-specific alterations in gene expression of the pre-synaptic 5-HT1D autoreceptors and 5-HT-related transcription factors, NUDR and REST, in DR neurons of women with MDD.

NUDR

MDD

NUDR

MDD


Input: We investigated the relationship of polymorphisms in 6 cytokine genes associated with inflammation-interleukin (IL) 1alpha, IL1beta, IL2, IL6, tumor necrosis factor (TNF), and lymphotoxin alpha (LTA)-with spontaneous preterm and SGA birth in a nested case-control study drawn from a prospective pregnancy cohort.

inflammation


Input: PTEN (phosphatase and tensin homologue deleted on chromosome 10), also referred to as MMAC1 (mutated in multiple advanced cancers) gene was recently identified as a putative tumor suppressor in a variety of malignant tumors.

tensin

cancers


Input: Plasma APOA5 concentration was measured by ELISA in 215 subjects with type 2 diabetes, who were taken from the Diabetes Atorvastatin Lipid-lowering Intervention (DALI) study, a 30-week randomised, double-blind, placebo-controlled study, and given atorvastatin 10 mg or 80 mg daily.

DALI

blind


Input: These data suggest that TNFR2 has a protective role in TNF-α-induced bone resorption.

bone resorption


Input: Three of 20 patients with juvenile osteoporosis were found to have a heterozygous mutation in the LRP5 gene.

LRP5 gene

juvenile osteoporosis


Input: INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation.

Joubert syndrome

Joubert syndrome


Input: Lateralised morphological abnormalities of the hippocampal formation in FES and left TLE are comparable, and may be specific to temporolimbic regions.

FES

abnormalities


Input: Myeloproliferative neoplasms associated with FIP1L1-PDGFR rearrangements represent a rare subset of myeloid and lymphoid malignancies, characterised by the presence of eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 genes.

PDGFRA

abnormalities


Input: Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels.

progressive muscle weakness


Input: In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.

ovarian cancers

ovarian cancers


Input: Only MRZ increased the proteasome substrate p27 in orthotopic brain tumors after a single injection, while both MRZ and BTZ increased p21 levels after multiple treatments.

BTZ

brain tumors


Input: Five novel factor IX mutations in unrelated hemophilia B patients.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.

keratin 1

epidermolytic hyperkeratosis

keratin 1

epidermolytic hyperkeratosis


Input: In order to relate HLA-DRB1 alleles to disease aggressiveness, patients with relapsing remitting MS and secondary progressive MS were subdivided into 3 groups:' benign' MS patients who maintain an Extended Disability Status Scale (EDSS) score of < or = 3 at least 10 years after disease onset; non-benign MS patients with EDSS > 3 after the same period and' aggressive' MS those with EDSS > or = 6 within 15 years of disease onset.

aggressiveness


Input: Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.


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

cardiac defect


Input: Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

Kufor-Rakeb syndrome

Kufor-Rakeb syndrome


Input: Hcrtr1 and 2 signaling differentially regulates depression-like behaviors.

depression

depression


Input: Two MRI studies indicate the neural basis for language impairment in epilepsy.

MRI

epilepsy


Input: The severity of HDB was classified into normal, mild, moderate and severe grades (marked as 0 to III), according to the degree of hyperplasia in the mammary gland.

HDB

mild


Input: Glomuvenous malformations (MIM 138000) are rare vascular malformations consisting of glomus cells, and in affected individuals, lesions may appear in any number anywhere on the body.

MIM

vascular malformations


Input: We used high resolution mate-pair sequencing (HRMPS) in 15 patients with primary myelofibrosis (PMF): eight with normal karyotype and seven with PMF-characteristic cytogenetic abnormalities, including der (6) t (1; 6) (q21-23; p21. 3) (n = 4), der (7) t (1; 7) (q10; p10) (n = 2), del (20) (q11. 2q13. 3) (n = 3), and complex karyotype (n = 1).

primary myelofibrosis


Input: Studies have been published examining KIR gene associations with birdshot chorioretinopathy (BCR), Vogt-Koyanagi-Harada (VKH) disease, and HLA-B27-associated acute anterior uveitis (AAU) and axial spondyloarthropathy.

BCR

birdshot chorioretinopathy


Input: Case-control and within-family tests for an association between conduct disorder and DAT1.

conduct disorder


Input: In summary, we have demonstrated that the expression of exogenous RCAN1 reduces migration and alters adhesion; and that the loss of endogenous RCAN1 leads to an increase in migration in the examined cancer cell lines.

adhesion


Input: Lysyl oxidase is known to play an important role in hypoxia-dependent cancer cell dissemination and metastasis.

Lysyl oxidase

hypoxia


Input: We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.

psychosis

psychosis


Input: Apolipoprotein E polymorphism is not associated with spinal bone mineral density in peri-and postmenopausal Greek women.

Apolipoprotein E

bone mineral density


Input: In this study we probed SP110 variants in pulmonary (PTB) and lymph node tuberculosis (LNTB) cases to explore their role in controlling susceptibility to Mycobacterium tuberculosis infection in north Indians.

PTB

lymph node tuberculosis


Input: The category " AML with myelodysplastic syndrome (MDS)-related changes " (AML-MRC) is separated from " AML not otherwise specified " (AML-NOS) by presence of MLD, MDS-related cytogenetics, or history of MDS or MDS/myeloproliferative neoplasm (MPN).

MRC

myeloproliferative neoplasm


Input: By FC analysis, 19/20 T-LGL leukaemia cases were CD3 + CD8 + and one case was CD3 + CD4 +.

leukaemia


Input: Thus, overall, mice with targeted mutation of the BDNF gene exhibited increased spontaneous locomotion and increased response to acute amphetamine, altered response to chronic cocaine, increased aggression, increase in risk-taking behavior, as demonstrated by time spent in the center of an open field, and changes in eating patterns.

BDNF gene

aggression


Input: After 28 weeks, both MT-IGF mice and wild-type littermates gained comparable 40-57% of body weight, with similar increases in fat masses; all mice maintained a normal sensitivity to insulin and did not become severely hyperglycemic.

IGF

body weight


Input: The EARS II study was undertaken to investigate whether a paternal history of CHD was associated with differences in postprandial lipemia.

EARS

lipemia


Input: Three EGFR [-216G/T (rs712830),-191A/C (rs712829), 497R > K (A/G) (rs2227983)], one EGF [61A/G, (rs4444903)] and one TGFA (rs3821262C/T) polymorphisms previously demonstrated to alter gene functions were genotyped in 229 sporadic idiopathic ILD patients and 693 normal healthy individuals.

EGFR

sporadic


Input: Treatment of HCMEC with IL-18 increases 1) NF-kappaB DNA binding activity; 2) induces kappaB-driven luciferase activity; 3) induces IL-1beta and TNF-alpha expression via NF-kappaB activation; 4) inhibits antiapoptotic Bcl-2 and Bcl-X (L); 5) up-regulates proapoptotic Fas, Fas-L, and Bcl-X (S) expression; 6) induces fas and Fas-L promoter activities via NF-kappaB activation; 7) activates caspases-8,-3,-9, and BID; 8) induces cytochrome c release into the cytoplasm; 9) inhibits FLIP; and 10) induces HCME cell death by apoptosis as seen by increased annexin V staining and increased levels of mono-and oligonucleosomal fragmented DNA.

cytochrome c

fas


Input: CD8 T cells mediate direct biliary ductule damage in nonobese diabetic autoimmune biliary disease.

biliary disease


Input: Further, the strength of these associations increased after removing the SQ component from HSI and FTND scores in both the EA and AA samples, suggesting that ARRB1 and ARRB2 play an important role in biological processes involved in the regulation of smoking urgency (that is time to smoke first cigarette).

smoking


Input: We hypothesized that VKORC1-dependent effects on the coagulation cascade and atherosclerosis would contribute to susceptibility for vascular diseases.

vascular diseases

vascular diseases


Input: Neutralisation of IL-1 & #946; attenuated the silica-induced inflammatory response of the heart and kidney and decreased fibrosis in the mouse kidney.

fibrosis

fibrosis


Input: Because the mutation has been reported to be rare in Caucasian early-onset FAD and to be absent in Caucasian late-onset FAD and sporadic AD, the situation of this mutation in Alzheimer' s disease may be common beyond the ethnic background.

FAD

sporadic


Input: IFN α receptor (IFNAR) knock-out (KO) mice exhibited increased mortality and morbidity with higher viral load after infection with influenza virus A/FM/1/47 (H1N1, a mouse-adapted strain) compared with wild-type (WT) mice, though the viruses were finally eliminated in both groups.

IFNAR

viral load


Input: Hereditary primary adrenal insufficiency syndromes due to ACTH resistance include hereditary glucocorticoid deficiency (HGD) and Allgrove' s syndrome (AS).

HGD

primary adrenal insufficiency


Input: The prolonged excretion of blood in stool driven by inflammatory process which causes iron metabolism disorder and anemia may elucidate the inverse correlation between hemoglobin and IL-17 serum levels in UC patients.

iron metabolism disorder


Input: RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis.

tumorigenesis


Input: Hence, we compared the cytomorphology of metastatic KRAS-AD and EGFR-positive adenocarcinoma (EGFR-AD) in aspiration specimens from lymph nodes.

EGFR

aspiration


Input: Our data confirm a substantial activation of BAL CD4 (+) T cells of patients with sarcoidosis.

sarcoidosis


Input: Morphological studies in tvrm5 mice demonstrated increased cell shedding and the presence of large multinucleated RPE cells, suggesting defects in intercellular adhesion and cytokinesis.

RPE

adhesion


Input: TNF-alpha-308 A allele might interact with smoking to enhance susceptibility to nodular CWP.

TNF-alpha

smoking


Input: Serum TGF beta 1 levels were higher in HCC than in chronic hepatitis (p < 0. 05).

HCC

chronic hepatitis


Input: TA levels and hTERT mRNA were higher in HCC compared with chronic hepatitis (P < 0. 001) and normal livers (P < 0. 001).

HCC

chronic hepatitis


Input: Western blotting and immunohistochemistry of these cells indicated a fall in the expression level of E-cadherin and an increase in fibronectin expression after 48 h. PAR1 activation also induced significant increases in nuclear levels of the Snail which is a repressor of E-cadherin gene expression.

E-cadherin

fall


Input: Effects of electroacupuncture on bone mineral density, oestradiol level and osteoprotegerin ligand expression in ovariectomised rabbits.

osteoprotegerin ligand

bone mineral density


Input: It is concluded that the genetic information about GRL would be useful for further genetic study of obesity, diabetes, and related metabolic diseases.

GRL

obesity


Input: After more than 10 years of control of infection, plasma viremia increased progressively, with a concomitant loss of CD4 (+) T cells.

viremia


Input: We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic/thrombotic events.

epilepsy


Input: The mRNA and protein expression of NKG2D ligands, MHC class I-related chain molecules A (MICA) and UL16-binding proteins (ULBPs), in human laryngeal carcinoma cell line Hep-2 and fresh tumour tissues were evaluated.

MICA

laryngeal carcinoma


Input: A lesion induced by 6-OHDA produced more severe motor deterioration in CB1 KO mice accompanied by more loss of DA neurons and increased PENK gene expression in the CPu.

motor deterioration


Input: Transfection of T98G cells with AKT3 or PI3KCA siRNA and exposure to TMZ and BCNU led to a significant reduction in cell viability, accumulation of subG1-phase cells, and reduction of cells in the S and G2/M phases, as well as induction of apoptosis or necrosis, and regulation of autophagy.

necrosis


Input: The suspicion of prenatal meconium ileus syndrome was raised in a pregnancy in a family with no history of cystic fibrosis because of significantly higher maternal serum alpha-fetoprotein in the 16th and 19th week of gestation, dispersed areas with increased echogenity in the fetal abdomen, slight fetal ascites in the 24th-25th weeks of gestation, decreased amniotic fluid gamma-glutamyltranspeptidase (GGT) activity and alpha-fetoprotein level in the 25th-26th weeks, and normal 46, XY karotype of the fetus.

GGT

cystic fibrosis


Input: Magnetic Resonance Imaging in living mice showed that the in vivo pharmacological or biotechnological knock down of GPR17 markedly prevents brain infarct evolution, suggesting GPR17 as a mediator of neuronal death at this early ischemic stage.

brain infarct

brain infarct


Input: As a molecular marker of oxidative stress, increased COX-2 expression was noted in 17 of 18 (94%) TCCs, 4 of 4 (100%) papillomas, and 39 of 47 (83%) PN hyperplasias.

papillomas

papillomas


Input: Through expanded whole exome sequencing, we identified a novel genetic substrate for TS, p. Ile1166Thr-CACNA1C.

TS

TS


Input: Of the SNPs examined, none of them exhibited statistically significant association with ACR after accounting for the effect of age, sex, diabetes, duration of diabetes, systolic blood pressure and anti-hypertensive medications.

ACR

systolic blood pressure


Input: Elevated expression of GLO1 was significantly associated with gastric wall invasion, lymph node metastasis, and pathological stage, suggesting a novel role of GLO1 in gastric cancer development and progression.

lymph node metastasis


Input: The effect of the LEP genotypes on leptin concentration and on the slopes of the weight and body mass index (BMI) Z-score curves before and after the onset of risperidone treatment was investigated.

LEP

weight


Input: Whereas in sporadic human malignancies mutations of the TP53 tumor-suppressor gene occur in cancers of almost every organ and histologic subtype, patients with an inborn TP53 defect are at high risk to develop, in particular, soft tissue and bone sarcomas, brain tumors, leukaemias, adrenocortical tumors, and breast cancer.

sporadic


Input: Here, we further studied an additional 5 FA patients for sequence alterations of the FANCA gene and found pathogenic mutations in 2 of them.

FANCA

FA

FANCA

FA


Input: Pituitary tumour transforming gene (PTTG) encodes a multifunctional protein that is implicated in initiating and perpetuating pituitary adenoma growth.

PTTG

pituitary adenoma


Input: To examine the hypothesis that abnormal cell-cycle regulators act as the mutators contributing to genomic instability, the present study, based on primary tumor tissues from 71 patients with breast cancer, was performed to determine whether there was an association between aberrant expression of cell-cycle regulators (cyclin A, cyclin D1, cyclin E, RB1, p21, and p27) and chromosomal instability.

genomic instability


Input: In all patients we analyzed activated factor VIII: C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine.

factor VIII

fibrinogen


Input: MCM5, MCM7, and RAD9 are overexpressed in malignant thyroid neoplasms of follicular cell origin.

thyroid neoplasms


Input: Two human glioma cell lines, U87 and U251, were transfected with Ad5F35-IL24 via recombinant adenovirus-mediated gene transfer and apoptosis, as well as PKR and eIF-2α expression analyzed.

PKR

adenovirus


Input: IGF-II and IGFBP-3 serum levels were associated with increases in the mammographically lucent area in both premenopausal (P (t) = 0. 01 and 0. 04, respectively) and postmenopausal women (P (t) < 0. 001 for both), but these associations were no longer statistically significant after adjustment for body mass index and waist circumference.

IGF-II

body mass index


Input: We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.

Noonan syndrome

Noonan syndrome


Input: These data indicate that glomerular ET-1 and ETB receptor expression in PAN nephrosis in increased at the mRNA level and that methylprednisolone treatment results in an attenuated increase.

ETB

nephrosis

ETB

nephrosis


Input: In portal-systemic encephalopathy resulting from chronic liver failure, astrocytes manifest altered expression of several key proteins and enzymes including monoamine oxidase B, glutamine synthetase, and the so-called peripheral-type benzodiazepine receptors.

glutamine synthetase

portal-systemic encephalopathy

glutamine synthetase

portal-systemic encephalopathy


Input: ACEI and ARB treatment prevents ventricular remodeling by inhibiting expression of Smad 2 and Smad 3.

Smad 3

ventricular remodeling

Smad 3

ventricular remodeling


Input: To characterize EGF gene expression in the pathogenesis of regenerative cirrhotic fibrosis, we employed biotinylated antisense oligonucleotide probes to localize hepatic mRNA transcripts in situ.

EGF gene

fibrosis


Input: In consequence, the inability of cells with a surplus of RAD51 to properly repair complex DNA damage and to resolve replication stress leads to higher genomic instability and thus drives tumorigenesis.

tumorigenesis


Input: We investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique.

COL10A1 gene

hypochondroplasia


Input: Compared to sporadic AD, Swedish FAD showed a significant increase in GSSG levels and the GSSG/2GSH ratio in the FIC, SPCC and OPC.

FAD

sporadic


Input: A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

factor XI deficiency

factor XI deficiency


Input: Furthermore, deletion of STAT3 in the brain endothelium also resulted in attenuated fever.

fever

fever


Input: In this study, the therapeutic efficacy of parvovirus-mediated delivery of three distinct cyto/chemokines (Il-2, MCP-3/CCL7 and IP-10/CXCL10) was evaluated in xenograft models of human PDAC.

parvovirus


Input: Using the isolated rat heart, we found that the reduction of left ventricular pressure (LVP), rate-pressure product, and maximal values of the first derivative of LVP elicited by hrSTA-CgA (1-78) at 33 nM is abolished by blocking G (i/o) proteins with pertussis toxin, scavenging NO with hemoglobin, and blocking NOS activity with N (G)-monomethyl-l-arginine or N (5)-(iminoethyl)-l-ornithine, soluble guanylate cyclase with 1H-[1, 2, 4] oxadiazole-[4, 4-a] quinoxalin-1-one, and protein kinase (PKG) with KT5823.

PKG

hemoglobin


Input: The role of A2350G polymorphism in exon 17 of the ACE gene and A1166C-in 3'-UTR of the AGTR1 in the pathogenesis of left ventricular hypertrophy was studied in patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2).

UTR

left ventricular hypertrophy


Input: These findings suggest that passive and active smoking may be related to breast cancer, and the effect may be differentially modified by NAT2 phenotype.

smoking


Input: In case 3, a dir ins (18; 5) (q21. 3; p13. 1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12) (q13--> q15), which had segregated from a carrier of an ins (18; 12) (p11. 3; q13q15).

heart defect


Input: We demonstrate that K13 upregulates the expression of a number of NF-κB responsive genes involved in cytokine signaling, cell death, adhesion, inflammation and immune response, including two NF-κB subunits involved in the alternate NF-κB pathway, RELB and NFKB2.

NF-κB

adhesion


Input: We speculate that indomethacin stimulates circulating arginine vasopressin levels and enhances peripheral arginine vasopressin effects in the fetus, resulting in oliguria and hypertension.

arginine vasopressin

oliguria


Input: Cox proportional hazards model and backward stepwise elimination were used to compute hazard ratio (HR) of deaths according to CDK8 status, initially adjusted for various patient and molecular features, including beta-catenin, p53, p21, p27 (CDK inhibitors), cyclin D1, fatty acid synthase (FASN), cyclooxygenase-2 (COX-2), microsatellite instability (MSI), CpG island methylator phenotype (CIMP), LINE-1 methylation, and mutations in KRAS, BRAF and PIK3CA.

cyclin D1

microsatellite instability


Input: This study aimed to analyze P-cadherin expression in invasive breast cancer and to correlate it with tumor markers, pathologic features, and patient survival.

P-cadherin

invasive breast cancer


Input: We concluded that in ART-treated individuals, higher levels of gut-associated HIV-DNA are associated with persistent immune activation and microbial translocation.

ART

translocation


Input: However, both SM22alpha; TRE-Cre; R26R; Bmpr1a (flox/+) and flox/flox mutant mice had fewer muscularized distal pulmonary arteries and attenuated loss of peripheral pulmonary arteries compared with age-matched control littermates in hypoxia.

TRE

hypoxia


Input: alpha 1-antitrypsin (alpha 1-A. T.) phenotypes were determined in 55 patients with rheumatoid arthritis (R. A.), 33 patients with R. A. and either obstructive airways disease or recurrent chest infections, 49 patients with fibrosing alveolitis (F. A.), 22 patients with R. A. and F. A., and 200 healthy controls.

alpha 1-antitrypsin

fibrosing alveolitis

alpha 1-antitrypsin

fibrosing alveolitis


Input: Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Hunter syndrome

Hunter syndrome


Input: Adiponectin is an adipocyte-derived protein that acts to reduce insulin resistance in the liver and muscle and also inhibits atherosclerosis.

Adiponectin

atherosclerosis

Adiponectin

atherosclerosis


Input: Blood samples from 12 patients with ductal carcinoma in situ, 133 patients with invasive breast cancer, 20 patients with hematological malignancies, 31 healthy volunteers, and tumor tissues from 40 patients with invasive breast cancer were screened for mRNA encoding hMAM, EGF-R, or CK-19 by nested RT-PCR.

EGF

ductal carcinoma in situ


Input: These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.

autism

autism


Input: The studies described in this report suggest that cisplatin-induced ototoxicity and cochlear uptake can be modulated by administration of a CTR1 inhibitor, copper sulfate.

ototoxicity


Input: Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

cardiomyopathy

cardiomyopathy


Input: Quantitative analysis of normal and diabetic porcine retinas reveals that while the expression levels of ADA2, A2AAR, ENT1, TNF-α and MMP9 are increased, the levels of AK are reduced during inflammation as an endogenous protective mechanism.

inflammation


Input: Therefore, TGFbeta1 promotes benign tumors by modifying tumor promoter-induced cell proliferation and inflammation but retains a suppressive function for malignant conversion.

inflammation

inflammation


Input: Here we applied whole-genome sequencing (WGS) to the DNA of a sporadic FAP patient in which we did not find any pathological APC mutations by direct sequencing.

APC

FAP

APC

FAP


Input: A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori' s disease.

AGL

Cori' s disease

AGL

Cori' s disease


Input: The importance of these systems is indicated by the evidence that, in genetic models of hypertension in the rat, blood pressure is elevated by the renin gene independently of changes in plasma levels of renin.

renin gene

blood pressure


Input: Wnt7a signaling through its receptor Fzd7 accelerates and augments regeneration by stimulating satellite stem cell expansion through the planar cell polarity pathway, as well as myofiber hypertrophy through the AKT/mammalian target of rapamycin (mTOR) anabolic pathway.

hypertrophy


Input: The aim of this study is to analyze the relationship between fractures and BMD and the rs3102735 (163 A/G), rs3134070 (245 T/G) and rs2073618 (1181 G/C) SNPs of the OPG and the rs2277438 SNP of the RANKL, in patients with sporadic PHPT.

OPG

sporadic


Input: We also examine whether ischemia-induced RGS2-mediated apoptosis is affected by siRNA-targeted endogenous PKCdelta downregulation or its phosphorylation.

ischemia


Input: Stathmin levels increase early during normal mouse prostate development and again during prostate tumor development and progression.

Stathmin

prostate tumor

Stathmin

prostate tumor


Input: Ectopic expression of mitochondrial uncoupling protein 1 (UCP1) in the white adipose tissue of the aP2-Ucp1 transgenic mice reduced obesity induced by genetic or dietary manipulations.

obesity

obesity


Input: In ATS, loss of GLUT10 results in defective collagen and/or elastin.

ATS

ATS


Input: ligand 14, S100 calcium binding protein A9, and keratin 17) were found to be upregulated in ELF of non-small-cell lung cancer patients with adenocarcinoma or squamous cell carcinoma.

ELF

squamous cell carcinoma


Input: F VIII dosage was gradually reduced with advanced resorption of the haematoma and thereafter switched to prophylaxis (40 IU/kg bw 3 times weekly).

VIII

haematoma


Input: A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.

hypotrichosis

hypotrichosis


Input: To investigate tissue flow disturbance and hypoxia during migraine aura, we studied a case of familial hemiplegic migraine (FHM) using novel magnetic resonance imaging (MRI) techniques.

MRI

hypoxia


Input: The current study was undertaken to determine whether 1 mechanism by which group II sPLA2 might contribute to the progression of inflammation and atherosclerosis is by increasing the formation of biologically active oxidized phospholipids.

inflammation


Input: Deficiency of ECHS1 or HIBCH should be considered in children with Leigh disease.

Leigh disease

Leigh disease


Input: Patients suffer from blindness, ataxia, epilepsy and cognitive defects, with MRI indicating widespread brain atrophy, and profound neuron loss is evident within the retina and brain.

MRI

epilepsy


Input: Examination of sputum provides a direct method to investigate airway inflammation non-invasively in particular Th1 (IL-2, IFN-gamma) and Th2 (IL-4, IL-10) cytokine production.

inflammation


Input: No significant difference in IL-13 or interferon-gamma gene expression in the tuberculin reactions was seen between atopic and nonatopic individuals.

atopic


Input: The expression of MRP1/CD9 and integrin alpha3 from the same tissue sample were examined immunohistochemically in 15 patients with normal endometrium and in 56 patients with uterine endometrioid adenocarcinoma.

endometrioid adenocarcinoma


Input: Molecular cloning and initial characterization of a novel fibrinogen-related gene, HFREP-1.

fibrinogen


Input: ], magnetic resonance imaging [MRI], and subtraction scintigraphy) suggested coexistent primary hyperparathyroidism (pHPT); however, hypercalcemia persisted postoperatively.

MRI

primary hyperparathyroidism


Input: In addition, we analyzed ABCB7 and PUS1, genes implicated in congenital sideroblastic anemia syndromes, but again found no coding mutations in acquired cases.

congenital sideroblastic anemia


Input: We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated.

EPPK

EPPK


Input: We concluded that NF-kappaB is a major and essential factor in regulating the expression of adhesion molecules, it plays an important role in the pathogenesis of UC.

NF-kappaB

adhesion


Input: In patients with HC, levels of NT-pro-BNP were correlated significantly with LV end-systolic volume index (r = 0. 50, p < 0. 05), LV mass index (r = 0. 47, p < 0. 05), proportion of hypokinetic segments (r = 0. 50, p < 0. 05), and levels of serum aminoterminal propeptide of type III procollagen (r = 0. 52, p < 0. 01).

BNP

hypokinetic


Input: We propose a model of defective anthracycline response in NQO1-deficient breast tumors, along with increased genomic instability promoted by elevated reactive oxygen species (ROS), and suggest that the NQO1 genotype is a prognostic and predictive marker for breast cancer.

genomic instability


Input: A short term elevation of serum CTRP12 by adenovirus-mediated expression improved glucose tolerance and insulin sensitivity, normalized hyperglycemia and hyperinsulinemia, and lowered postprandial insulin resistance in obese and diabetic mice.

hyperinsulinemia


Input: The coordinated expression of PTX3 and TSG-6 may play a role in ECM remodeling at sites of inflammation.

inflammation


Input: A genetic screen using a library of 6, 961 siRNAs led to the identification of SHP-1 (PTPN6), a tumor suppressor frequently mutated in malignant lymphomas, leukemias, and prostate cancer, as a potential synthetic lethal partner of the DNA repair protein polynucleotide kinase/phosphatase (PNKP).

PNKP

prostate cancer


Input: We also show that the levels of BiP are not significantly different in the brains of individuals with sporadic Alzheimer' s disease or PS1-mediated FAD to levels in control brains.

FAD

sporadic


Input: Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

retinitis pigmentosa

retinitis pigmentosa


Input: This switch appears to be independent of a coincidental activation of the NF-kappaB pathway but is associated with high levels of proteinuria, a well known risk factor for progression of IgA nephropathy.

NF-kappaB

proteinuria


Input: We have demonstrated that an intact vimentin intermediate filament network contributes to the maintenance of the chondrocyte phenotype and thus an imbalance favouring filament disassembly can disturb the integrity of the articular cartilage, and may ultimately lead to the development of pathologies such as osteoarthritis.

vimentin

osteoarthritis

vimentin

osteoarthritis


Input: In the present study, we focused on downstream signals of IL-6 and oxidative stress induced by cisplatin in order to evaluate the protective role of IL-6 in the development of acute renal failure.

acute renal failure

acute renal failure


Input: SPECT-CT imaging of xenograft tumors infected with Ad5/3PB-hNIS showed steady uptake, whereas infection with Ad5/3PB-ADP-hNIS led to increasing uptake, indicating viral spread.

ADP

tumors


Input: Genetic analysis demonstrated the absence of an usual FMTC mutation and the presence of a germline 9-bp duplication in RET exon 8 in the heterozygous state in all patients with MTC.

RET

FMTC

RET

FMTC


Input: The serine-threonine mitogen-activated protein kinase kinase family member T-LAK cell-originated protein kinase (TOPK/PBK) is heavily involved in tumor development, cancer growth, apoptosis, and inflammation.

PBK

inflammation


Input: The distribution of AGXT2L1 expression in control subjects versus BPD and SZ was highly significant (Fisher' s Exact Test, p & lt; 10 (-06)).

SZ

SZ


Input: Heart failure was produced by myocardial infarction, and was associated with markedly increased AMPK and SIRT1 protein levels.

Heart failure

Heart failure


Input: In mice, angiotensin II infusion induces renal fibrosis via ADAM17-mediated TGF-alpha shedding and subsequent EGFR activation.

renal fibrosis


Input: Forced expression of BCAR4 in human ZR-75-1 and MCF7 breast cancer cells resulted in cell proliferation in the absence of estrogen and in the presence of various antiestrogens.

breast cancer

breast cancer


Input: Moreover, in human intestinal inflammation, IDO was expressed in ulcer associated cell lineage.

IDO

ulcer


Input: These evidences indicate the NEDD8/beta-catenin/p27 pathway as a possible molecular target for prevention of lipodystrophy development in patients under HAART therapy.

lipodystrophy


Input: In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.

FMRP

fragile X syndrome

FMRP

fragile X syndrome


Input: We found the following frequencies: blood group O (0. 54), sickle-cell trait (0. 23), G6PD deficiency (0. 09), MBP gene mutations (0. 34), TNF-alpha promoter mutations (at positions-238: 0. 17 and-308: 0. 22) and NOS2 promoter mutation (0. 18).

MBP gene

sickle-cell trait


Input: Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

Congenital Chloride Diarrhea

Congenital Chloride Diarrhea


Input: For smoking HBV carriers, the odds ratios of developing HCC for those heterozygous and homozygous for the NAT2 * 4 functional allele compared with those without any copies of the functional allele (reference group) were 2. 67 (95% confidence interval 1. 15-6. 22) and 2. 58 (95% confidence interval 1. 04-6. 43), respectively.

smoking


Input: Our goal was to set up a pilot study to explore the possible relation between the expression of p66 ((ShcA)) and PTX3, two emerging regulators of stress response and inflammation processes, respectively, and the circulating levels of LDL-cholesterol (LDL), a factor implicated in the development of inflammation and oxidative-stress associated diseases such as atherosclerosis.

inflammation


Input: We have identified PKHD1, the gene mutated in ARPKD.

ARPKD

ARPKD


Input: Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1).

Leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type II


Input: Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

Ehlers-Danlos syndrome type VII

Ehlers-Danlos syndrome type VII


Input: MIF enhanced Akt activity in primary and immortalized fibroblasts (MEF and NIH/3T3), HeLa cervix carcinoma cells and various breast cancer cell lines.

MEF

cervix carcinoma


Input: Here, I will overview and contrast these models highlighting the advances both represent in our understanding of how defects in the ATR-dependent DNA damage response can impact on normal development, tissue homeostasis, ageing and cancer.

ATR

ageing


Input: The essential role of the vasopressin V2 receptor and AQP2 in the maintenance of body water homeostasis became clear when it was shown that mutations in their genes cause nephrogenic diabetes insipidus, a disorder in which the kidney is unable to concentrate urine in response to AVP.

AVP

unable to concentrate


Input: Telomere shortening: a biological marker of sporadic colorectal cancer with normal expression of p53 and mismatch repair proteins.

sporadic


Input: Cellular Prion Protein (PrP (C)) is known to mediate a protective role in several neurological conditions such as ischemia and epilepsy.

Prion Protein

ischemia


Input: Among behavioral phenotypes previously reported for NK1R mice on a mixed background, an analgesic-like phenotype was maintained on the C57BL/6 background used here, while KO: s and WT: s did not differ in anxiety-and depression-related behaviors.

depression

depression


Input: IGF-I concentrations are also partly heritable and thus genetic variation at IGF1 could influence height, weight, BMI and the risk of developing chronic diseases.

weight


Input: In addition, immunostaining showed that the PTGFR was expressed in human tumor blood vessels in vivo.

PTGFR

tumor


Input: It has been reported that lysyl oxidase (LOX) is a hypoxia-responsive factor and is associated with the malignant progression of carcinoma.

LOX

hypoxia


Input: Patterns of loss of heterozygosity at loci from chromosome arm 13q suggests a possible involvement of BRCA2 in sporadic breast tumors.

sporadic


Input: To test the biological consequences of the 8-bp repeat sequence in the insulin promoter, a normal and variant promoter were subcloned into a luciferase plasmid, and reporter gene activity assessed by transient transfection into mouse insulinoma (beta TC1) and hamster insulinoma (HIT) cells.

hamster insulinoma


Input: The expression of miRNA-200c and RhoE were investigated in gastric cancer tissues and cells (SGC7901 and SGC7901/DDP) by qRT-PCR.

RhoE

gastric cancer


Input: We focused on two inflammation-associated cytokines, interleukin-6 (IL-6) and transforming growth factor-beta 1 (TGF-β1), and investigated their expression and activity, as well as their relationship to key features of malignancy, in tumour samples from patients with BTC and in cultured BTC cells.

BTC

inflammation


Input: Here, we concentrate on chromatin disposal during necrosis and the involvement of Deoxyribonuclease 1 in this process with respect to its possible role in the prevention of anti-nuclear auto-immunity.

Deoxyribonuclease 1

necrosis


Input: Chromosome translocation creates a fusion between the EWSR1 gene and an ETS family gene.

EWSR1 gene

translocation


Input: We investigated the roles of AURKA in inflammation and gastric tumorigenesis.

AURKA

tumorigenesis


Input: These results are consistent with the expression of VDR and 1alpha (OH) ase in samples of normal colonic tissue, aberrant crypt foci (ACFs) and colon adenocarcinomas.

1alpha (OH) ase

aberrant crypt foci


Input: The expression of NRP-1 in a panel of human gastric cancer cells was examined by real-time RT-PCR and immunoblotting.

NRP

gastric cancer


Input: Enriched expression of LSC maintenance and ESC-like program genes in normal myeloid progenitors and poor-prognosis human malignancies links the frequency of aberrantly self-renewing progenitor-like cancer stem cells (CSCs) to prognosis in human cancer.

LSC

cancer


Input: Males and alleles of loci flanking SP-B were associated with more severe cases (forced expiratory volume in one second/forced vital capacity < or = 40%).

SP-B

vital capacity


Input: We summarize experimental data describing the roles of BDNF, VGF and other neuropeptides in depression and how they may be acting through the generation of new neurons and altered synaptic activity.

VGF

depression

VGF

depression


Input: The severity of inflammation corresponded to increased numbers of CD8alphabeta (+) NK1. 1 (+) T cells and levels of production of the Th1-type cytokines IFN-gamma and TNF-alpha.

inflammation


Input: The analysis of 40 individuals with mild asthma and 49 patients with the severe form of the disease revealed a negative association of genotype GG IL4 (OR = 0. 39, 95% CI = 0. 15-0. 99, p = 0. 035), and also a trend towards a positive association of the GC IL4 genotype (OR = 2. 52, 95% CI = 0. 98-6. 57, p = 0. 052) with mild BA.

mild


Input: As variations in the TNFSF11 gene promoter could alter its expression, the aim of the study was to evaluate the functional influence of three polymorphisms in the promoter and to investigate their association with bone mineral density (BMD) and biochemical markers in postmenopausal women.

TNFSF11 gene

bone mineral density


Input: In this study we report seven different germline mutations in the RET proto-oncogene in five of five MEN 2A and five of six FMTC families.

RET proto-oncogene

FMTC

RET proto-oncogene

FMTC


Input: FH4 = STAP1. Another gene for familial hypercholesterolemia? Relevance to cascade testing and drug development?

hypercholesterolemia

hypercholesterolemia


Input: Transgenic models with extra copies of the Pmp22 gene have provided formal proof that overexpression of only this candidate gene is sufficent to cause peripheral demyelination, onion bulb formation, secondary axonal loss, and progressive muscle atrophy, the pathological hallmarks of CMT1A.

Pmp22 gene

peripheral demyelination


Input: Our findings point to an association of APOL1 G1/G2 with kidney disease in sickle cell disease, possibly through increased risk of hemoglobinuria, and associations of HMOX1 variants with kidney disease, possibly through reduced protection of the kidney from hemoglobin-mediated toxicity.

hemoglobinuria


Input: Public TRB were identified in MT from the blood and tumor of different melanoma patients.

TRB

melanoma


Input: At least one other gene contained in the commonly deleted region, LYSMD3, shows a high level of central nervous expression during embryogenesis and is also, therefore, a good candidate gene for other central nervous system (CNS) symptoms, such as psychomotor retardation, brain anomalies and muscular hypotonia of the 5q14. 3 microdeletion syndrome.

muscular hypotonia


Input: The risk of developing RV with minor skin vasculitis (i. e., purpura or petechiae) was 10-20-fold increased in patients with DRB1 * 04, in particular in those homozygous for DRB1 * 04, and also in those with DRB1 * 0401.

purpura


Input: Multiple logistic regression analyses revealed that the ALDH2 * 2 variant allele was an independent variable exhibiting strong protection (odds ratio 0. 072; 95 per cent confidence interval 0. 02-0. 26) against HDS after adjustment for hypertension, diabetes mellitus, smoking status and liver dysfunction.

HDS

diabetes mellitus


Input: Neutralizing CCL2 with an anti-CCL2 antibody (0. 2-20 ng) or injecting RS-102895 (0. 1-10 pmol), a CCR2b chemokine receptor antagonist, into the RVM on day 1 after SNL, significantly attenuated the established thermal and mechanical hypersensitivity.

SNL

hypersensitivity


Input: The aim of this study was to determine in a clinically and therapeutically homogeneous group of 122 sporadic Dukes' B colorectal carcinomas with a median follow-up of 67 months (3-144 months) whether or not p53 protein expression, TP53 mutation and K-ras mutation correlated with prognosis.

sporadic


Input: Consequently, the CIHM status in the gastric cancer tissue, in relation to IL-17A (-197G > A),-17F (7488T > C), and MIF (-173G > C and-794 tetranucleotide repeats) polymorphisms was investigated.

MIF

gastric cancer


Input: In the adult heart, cardiac GRK2 is a major factor regulating inotropic and lusitropic tachyphylaxis to beta-adrenergic agonist, which likely contributes to its protective effects in catecholamine cardiomyopathy.

cardiomyopathy

cardiomyopathy


Input: The task elicited significant increases of systolic blood pressure (SBP), diastolic BP (DBP) and heart rate (HR) and a significant decrease of HRV (all time effects P < 0. 0001).

DBP

systolic blood pressure


Input: In this study, MR-1 protein expression was determined by immunohistochemistry in specimens of primary cancer and the adjacent noncancerous tissues from gastric cancer patients.

gastric cancer


Input: HIF-1α and LOX were knocked down in epithelial ovarian cancer cells (EOC), and HIF-1α/LOX regulation mechanism and LOX catalytic activity under hypoxia/reoxygenation microenvironment were explored.

LOX

hypoxia


Input: A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration.

espin

deafness

espin

deafness


Input: In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1 & #183; 18 times; p = 9 & #183; 6 & #215; 10 (-3)) and MYO5A (1 & #183; 93 times; p = 3 & #183; 2 & #215; 10 (-2)), involved in development and function of the nervous system.

peripheral neuropathy

peripheral neuropathy


Input: The epidermal growth factor (EGF) rs4444903 A > G polymorphism has been associated with the development of liver cancer, which commonly complicates cirrhosis of viral origin; however, whether this polymorphism might be associated with fibrosis progression in chronic viral hepatitis is unknown.

EGF

fibrosis


Input: Metaphase spreads obtained from the BM revealed an aneuploid karyotype with-7 and a submetacentric marker chromosome derived from chromosome 2, which was determined to be inv (2) (p23q13) by fluorescence in situ hybridization using the Vysis ALK probe.

ALK

aneuploid


Input: In an effort to identify gene (s) whose variant (s) are involved in the development of asthma, we examined the genetic effects of 19 single nucleotide polymorphisms in eight cytokine and cytokine receptor genes, including IL1A, IL1B, IL2, IL3, IL4, IL8, IL10, and IL5RA, on asthma and atopy.

atopy


Input: EFT-like cases with fusions of EWS to non-ETS translocation partners are also uncommon but involve the same amino-terminal portion of EWS, which in our novel EWS-SP3 fusion is joined to the SP3 zinc-finger DNA-binding domain.

EWS

translocation


Input: The mean TRF length in gastric cancer was not statistically correlated with clinicopathological parameters and telomerase activity.

TRF

gastric cancer


Input: We did not identify the SRY gene in 46, XX true hermaphrodites and 46, XX males with ambiguous genitalia, therefore SRY translocation to X chromosome or autosome is unlikely.

SRY

translocation


Input: All these effects were more pronounced in females and remained significant after adjustment for sex, age, BMI, systolic blood pressure and serum apolipoprotein B levels.

apolipoprotein B

systolic blood pressure


Input: STRAD in Peutz-Jeghers syndrome and sporadic cancers.

STRAD

cancers


Input: One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing.

ovarian cancer

ovarian cancer


Input: Cav1 protects squamous epithelia by controlling cell growth and stabilizing cell junctions and matrix adhesion.

adhesion


Input: Bronchiolar CC10 mRNA levels remained unchanged in sections containing abnormalities elsewhere.

abnormalities


Input: Because CD19 (+) CD5 (+) B cells are important producers of IgA and contribute to several autoimmune diseases, they may play an important role in IgA nephropathy.

autoimmune diseases


Input: To test directly whether LPL is an insulin resistance gene, we performed the hyperinsulinemic-euglycemic clamp in a large family-based population of Mexican Americans who were genotyped at six polymorphisms in LPL that define the most common haplotypes in the population.

LPL

insulin resistance


Input: In 41 samples of corresponding non-neoplastic mucosae, no DNA methylation of CHFR was detected.

CHFR

non-neoplastic


Input: According to data analysis males, cigarette smokers, patients who carry metabolic syndrome or familial antecedent of adenomas were significantly associated with CRA risk.

CRA

metabolic syndrome


Input: This family had an anti-centromere + child with PHT and a congenital heart lesion, a mother who died of PPH, and asymptomatic ANA + relatives (father anti-Sm +/anti-RNP +; autoantibodies unknown in fraternal twin sister and in maternal grandmother).

PPH

asymptomatic


Input: In this study, hydrophobic fluorescent dyes ICG-Der-01 was entrapped into the N-succinyl-N'-octyl chitosan (SOC) micelles to form the near infrared absorbing dyes SOC-ICG-Der-01 and SOC-ICG-Der-01 mediated near infrared laser (SOC-ICG-Der-01/NIR) thermotherapy was combined with Ad-ERβ gene therapy to regress colon cancer in vivo.

SOC

colon cancer


Input: Key genes that may play a role in keloid formation and growth involve: suppressor gene p53., cyclin-depend-ent kinase inhibitor CDKN1A (p21) and BCL2 family genes: antiapoptotic BCL-2 and proapoptotic BAX.

BAX

keloid formation


Input: A female patient with the karyotype 45, X/46, X, r (X) (p11. 2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome.

prominent fingertip pads


Input: In contrast, UCP2 mRNA levels were increased by 30% in skeletal muscle of 20% weight-reduced subjects with obesity.

weight


Input: Moreover, DDN displayed a greater synergistic effect with cisplatin in a FA-proficient cancer cell line compared to its FA-deficient isogenic counterpart, suggesting that DDN might be a good lead candidate as cisplatin chemosensitizer in both FA-deficient and FA-competent tumors.

DDN

tumors


Input: We propose that RhoE-targeted therapy might inhibit the high invasive potential of gastric cancer cells in hypoxic regions.

RhoE

gastric cancer


Input: Correlation analysis demonstrated that high expression of MR-1 in gastric cancer was significantly correlated with clinical stage (P = 0. 034).

gastric cancer


Input: Up-regulation of RhoE significantly enhanced the migratory and invasive abilities of gastric cancer cells both in vitro and in vivo.

RhoE

gastric cancer


Input: Gemcitabine triggers a pro-survival response in pancreatic cancer cells through activation of the MNK2/eIF4E pathway.

pancreatic cancer


Input: Our aim was to study the role of the transient receptor potential vanilloid 1 (TRPV1), a key integrator of noxious stimuli, in the pathogenesis of pancreatic pain in a rat model of CP.

CP

CP


Input: This study was designed to determine the prevalence of p16, MGMT, RARbeta2, CLDN3, CRBP and MT1G gene methylation in patients with ESCC to evaluate the variation of gene methylation across a spectrum of preneoplastic lesions, and assess the feasibility of using gene methylation in a primary screening test utilizing frozen esophageal cells collected by balloon cytology samplers.

MGMT

esophageal


Input: Functional analyses showed that LRRC50 deficiency disrupts assembly of distally and proximally DNAH5-and DNAI2-containing ODA complexes, as well as DNALI1-containing IDA complexes, resulting in immotile cilia.

immotile cilia


Input: Exposure to plasticizers di (n-butyl) phthalate (DBP) and diethylhexyl phthalate (DEHP) during sexual differentiation causes male reproductive tract malformations in rats and rabbits.

DBP

malformations


Input: Cigarette smoke extracts (CSE) could promote esophageal squamous cell carcinoma (ESCC) through upregulation of cyclooxygenase-2 (COX-2) expression.

CSE

esophageal squamous cell carcinoma


Input: The leukemic cells in an acute myeloid leukemia (AML) patient with a t (9; 11) (p22; p15) were recently shown to have a fusion between the NUP98 gene and the LEDGF gene but it was not demonstrated that this fusion was recurrent in other leukaemia patients with the same translocation.

NUP98 gene

translocation


Input: Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

brachydactyly type A1

brachydactyly type A1


Input: RANTES A-403 was associated with CAD independently from conventional risk factors and CRP or fibrinogen as inflammatory biomarkers.

RANTES

fibrinogen


Input: Recent findings have added yet another functional dimension, wherein cancer cells themselves co-opt NKG2D for their own benefit to complement the presence of its ligands for self-stimulation of parameters of tumorigenesis.

tumorigenesis


Input: Individuals with LEP-2548A/G or G/G genotype in ISS group (47. 5%) showed a significantly lower weight and body mass index (BMI) (but not leptin levels) than individuals carrying the A/A genotype (52. 5%).

LEP

weight


Input: Herein, CGRP immunolabeling (IL) was detected in epidermal keratinocytes at levels that were especially high and widespread in the skin of humans from locations afflicted with postherpetic neuralgia (PHN) and complex region pain syndrome type 1 (CRPS), of monkeys infected with simian immunodeficiency virus, and of rats subjected to L5/L6 spinal nerve ligation, sciatic nerve chronic constriction, and subcutaneous injection of complete Freund' s adjuvant.

CGRP

constriction


Input: ] and other conditions affecting the chromosome 14q32. 2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd (14) pat phenotype, several matters, including regulatory mechanism (s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain to be elucidated.

pat


Input: Paired-box gene 8 (PAX8)-peroxisome proliferator-activated receptor-γ (PPARγ) gene fusion has been identified at significant frequency in follicular thyroid carcinomas (FTCs) with cytogenetically detectable translocation t (2; 3) (q13; p25).

PPARγ

translocation


Input: Thus, the presence of a RASAL1 amplification in ossifying fibroma may indicate a requirement for closer follow-up and more aggressive management.

fibroma


Input: Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect.

atrial septal defect


Input: Activation of AP-1 and of a nuclear redox factor, Ref-1, in the response of HT29 colon cancer cells to hypoxia.

hypoxia


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

bradykinin

hyperalgesia

bradykinin

hyperalgesia


Input: While Sp1 levels increase in the cortex in a rat model of stroke, inhibition of Sp1 binding leads to enhanced apoptosis and cortical injury.

stroke


Input: To identify the frequency of a mutation of the RDH5 gene in Japanese patients with hereditary retinal degeneration and to characterize clinical findings for the patients associated with a 1085delC/insGAAG mutation in the RDH5 gene.

RDH5 gene

retinal degeneration


Input: Familial Alzheimer' s disease (FAD) tends to present with more prominent neurological symptoms including cerebellar signs than sporadic Alzheimer' s disease (SAD).

FAD

sporadic


Input: The BCCs from sun-exposed sites, whether arsenic related or sporadic, more frequently showed overexpression of p53 than those from less-exposed areas (P =. 004; 2-tailed test).

sporadic


Input: Analysis of 84 genes, which are associated with oxidative stress and antioxidant defense, showed that 7 genes were significantly and differentially regulated, namely BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3), 24-dehydrocholesterol reduc-tase (DHCR24), dual specificity phosphatase 1 (DUSP1), forkhead box M1 (FOXM1), nudix-type motif 1 (NUDT1), prostaglandin-endoperoxide synthase 2 (PTGS2), and scavenger receptor class A, member 3 (SCARA3).

adenovirus


Input: Although healthy volunteers with the 22GA genotype had a lower Vmax value of ADA than volunteers with the GG genotype (61. 6 +/-4. 3 ng/min/mg, n = 14, vs. 78. 0 +/-2. 8 ng/min/mg, n = 82; P = 0. 02), this did not potentiate the forearm vasodilator response to 13 min of ischaemia (77. 4 +/-8. 8 ml/dl in the GA group (n = 5) vs. 87. 0 +/-5. 0 ml/dl (n = 35), area under the curve, P = 0. 3).

ADA

ischaemia


Input: Because IGF-1 reduces angiotensin (Ang) II and apoptosis, we tested whether streptozotocin-induced diabetic cardiomyopathy was attenuated in IGF-1 transgenic mice (TGM).

diabetic cardiomyopathy

diabetic cardiomyopathy


Input: This study demonstrates the implication of CHCHD10 in FTD and ALS spectrum.

ALS

ALS


Input: At least four of these (MCC, APC, p53 and DCC) apparently contribute to sporadic colorectal carcinogenesis.

sporadic


Input: The identification of p27 (kip) in regressing keratoacanthoma but not in expanding keratoacanthoma suggests that p27 (kip) may be playing a role in promoting regression of keratoacanthoma and is a potential target for pharmacologic intervention.

keratoacanthoma


Input: ERM samples were obtained by vitrectomy from 12 subjects with PDR (aged 57 ± 6 years; duration of diabetes 16 ± 7 years), and 12 subjects with idiopathic ERM (aged 68 ± 5 years).

ERM

diabetes


Input: We made the following observations: (i) CD85j (ILT-2/LIR-1) was highly expressed alongside CD57-an established effector memory marker-on CMV-specific CD8 (+) T cells; (ii) on CD8 (+) T cells as a whole, with increasing age, CD57 and CD85j (ILT-2/LIR-1) expression increased whereas CCR7 expression decreased, indicating increasing maturation of the total CD8 (+) T-cell compartment with age; (iii) unit increases in the percentage of CMV-specific CD8 (+) T cells expressing CD57 and CD85j (ILT-2/LIR-1) were associated with incremental expansion of these T-cell populations; (iv) CMV seropositivity is associated with a marked effect on the overall phenotype of CD8 (+) T cells (at any given age, CMV seropositivity is associated with an 18. 7% increase in CD85j (ILT-2/LIR-1) expression); and (v) from our observations we estimated from this an apparent' ageing effect' of CMV on CD8 (+) T cells of 35. 4 years.

ageing


Input: Thirteen of these markers of brain amyloid burden--c-peptide, fibrinogen, alpha-1-antitrypsin, pancreatic polypeptide, complement C3, vitronectin, cortisol, AXL receptor kinase, interleukin-3, interleukin-13, matrix metalloproteinase-9 total, apolipoprotein E and immunoglobulin E--were used along with co-variates in multiple linear regression, and were shown by cross-validation to explain > 30% of the variance of brain amyloid burden.

AXL

fibrinogen


Input: These findings strongly implicate 5-HT2C receptors in the serotonergic suppression of DA-mediated behavioral responses to cocaine and as a potential therapeutic target for cocaine abuse.

cocaine abuse

cocaine abuse


Input: Serotonin 5-HT1A, 5-HT1B, and 5-HT2A receptor mRNA expression in subjects with major depression, bipolar disorder, and schizophrenia.

depression, bipolar


Input: To assess the independent effects of obesity, insulin resistance, and steatosis on response to IFN-alpha therapy and to determine hepatic expression of factors inhibiting IFN-alpha signalling in obese and non-obese subjects with chronic HCV.

IFN-alpha

insulin resistance


Input: GNAT1 associated with autosomal recessive congenital stationary night blindness.

congenital stationary night blindness

congenital stationary night blindness


Input: Collectively, these results indicate that capsaicin induces divergent effects of the growth of gastric cancer cells that parallel its effects on tNOX expression, and demonstrate that forced tNOX down-regulation restored capsaicin-induced growth inhibition in TMC-1 cells.

TMC

gastric cancer


Input: Then, thermotherapy with SOC-ICG-Der-01/NIR combined with Ad-ERβ gene therapy to treat HCT-116 colon cancer xenograft model was investigated.

SOC

colon cancer


Input: Although intravenous heparin is routinely used in the treatment of patients with acute coronary syndromes, this anticoagulant requires antithrombin III as a cofactor, has no affinity to clot-bound thrombin, and is bound or inactivated by several plasma proteins and platelet factor 4.

antithrombin III

acute coronary syndromes

antithrombin III

acute coronary syndromes


Input: Although mechanisms underlying loss of IENF in SFN are poorly understood, available data suggest that it results from axonal degeneration and reduced regenerative capacity.

SFN

axonal degeneration


Input: The purpose of this study was to examine the association between the hOGG1 genotype and body mass index (BMI) and fasting blood glucose (FBG) levels.

body mass index


Input: Moreover, treating both active and passive MS models with the anti-CD146 antibody AA98 significantly decreased the infiltrated lymphocytes in the CNS and decreased neuroinflammation.

MS

MS


Input: Plasma TFPI levels might reflect injury of vascular endothelial cells as do plasma TM levels, and decreased plasma TFPI/TF ratio and vascular endothelial cell injuries might play causative roles in TTP.

TFPI

TTP

TFPI

TTP


Input: We conclude that it is feasible to treat patients with HIV-associated lymphoma using standard dose m-BACOD plus GMCSF, but further study is needed to determine whether full-dose regimens improve survival when compared with reduced dose regimens in these individuals.

GMCSF

HIV-associated lymphoma

GMCSF

HIV-associated lymphoma


Input: TLR2 and TLR3 expression as a biomarker for the risk of doxorubicin-induced heart failure.

heart failure

heart failure


Input: The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.

polyps


Input: Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis.

factor V Leiden

Budd-Chiari syndrome

factor V Leiden

Budd-Chiari syndrome


Input: Notably, three candidates (TC0100223, TC0101686 and TC0101441) were aberrantly expressed in ERα-positive compared to ERα-negative EOC tissues, showing correlations with some malignant cancer phenotypes such as advanced FIGO stage and/or high histological grade.

cancer


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

AVP

depressive symptoms

AVP

depressive symptoms


Input: DVL2 and DVL3 were expressed in all normal mucosa samples tested, and in sporadic colon cancer, but were not expressed in colon cancers arising in IBD patients.

sporadic


Input: COL2A1 mutations may be more common in LCPD patients than currently thought, particularly in familial and/or bilateral cases.

LCPD

LCPD


Input: The lack of PXR results in a severe repression of the Na/Pi cotransporter NaPi-IIb/Npt2b (SLC34A2), thus leading Pxr-/-males and females to develop a type of hypophosphatemia.

hypophosphatemia


Input: The TWEAK-Fn14 signaling axis enhances lung cancer cell survival and therapeutic resistance through Mcl-1, positioning both TWEAK-Fn14 and Mcl-1 as therapeutic opportunities in lung cancer.

TWEAK

lung cancer


Input: We now show for the first time that, compared with controls, mice exposed prenatally to secondhand CS exhibit increased lung inflammation (predominant infiltration by eosinophils and polymorphs), atopy, and airway resistance, and produce proinflammatory cytokines (IL-4, IL-5, IL-6, and IL-13, but not IL-2 or IFN-gamma).

atopy


Input: In the absence of clinical methods to quantitate the Ph +/Ph-progenitor ratio, we hypothesized that the pre-IM percentage of BCR-ABL + cells measured by fluorescence in situ hybridization (FISH) predicts for myelosuppression.

FISH

myelosuppression


Input: microRNA (miR)-146b-5p inhibits NFκB-mediated inflammation by targeted repression of IRAK1 and TNF receptor-associated factor-6 (TRAF6).

inflammation


Input: Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma.

TSC

squamous cell carcinoma

TSC

squamous cell carcinoma


Input: Pediatric Ewing' s sarcoma (TC-32), neuroblastoma (IMR32 and KCNR), and glioblastoma (SF188) models were also highly sensitive to PLK1 inhibition.

sarcoma


Input: To determine whether there is gene-environment interaction between NAT2 polymorphisms, alone or in combination with mEH polymorphisms, and cumulative smoking exposure in the development of lung cancer, we conducted a case control study of 1115 Caucasian lung cancer patients and 1250 spouse and friend controls.

smoking


Input: Similar increase in XDH + XOD activity in plasma was observed after induction of acute pancreatitis and after i. v.

XDH

acute pancreatitis


Input: In APOA1 (-75)-APOA1 (+ 83) bilocus haplotypes, G-M2 (+) was associated (P = 0. 0001) with very high risk (OR 3. 173, 95% CI 1. 774 to 5. 674) for gallstone disease in males only.

gallstone disease


Input: We show here that SAP mutants found in XLP patients are defective in binding its physiological ligands signaling lymphocyte activating molecule (SLAM), a co-receptor in T cell activation, and Fyn, a Src family protein tyrosine kinase.

SAP

XLP

SAP

XLP


Input: Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c. 2786T & gt; C mutation in GLI3, which predicts p. Leu929Pro.

acrocallosal syndrome

acrocallosal syndrome


Input: This study evaluates the possibility of treating Bon1 and QGP pancreatic neuroendocrine tumor cells with radioactive iodide ((131) I) after stable transfection with the thyroid sodium iodide symporter (NIS).

NIS

pancreatic neuroendocrine tumor


Input: An increased Ca2 +-buffering capacity of the sarcoplasmic reticulum lumen might counteract elevated cytosolic Ca2 + levels in diabetes thereby preventing Ca2 +-dependent myo-necrosis.

necrosis


Input: Concomitantly, epithelial cell proliferation and the expression of the G1/S cell cycle regulator CDK4 and c-myc were diminished in the polyps of Apc Min/+ Sphk1 (-/-) mice.

polyps


Input: In addition to numerical and structural chromosomal changes driven by genome instability in cancer cells, other mechanisms might be involved in MDR1 regional activation, such as chromatin remodeling and DNA or histone modifications of the 7q21 region.

genome instability


Input: T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.

blue rubber bleb nevus

blue rubber bleb nevus


Input: Eighteen mutations in BRCA1 were detected in 11/28 breast/ovarian cancer families and 7/33 breast cancer families and none in the families with only two cases.

breast cancer

breast cancer


Input: The TRAR4 gene locates in SCZD5 (MIM 603175), which a number of studies have linked with schizophrenia.

MIM

schizophrenia


Input: This study has investigated the patterns of membrane 2H4 (CD45RA) and UCHL1 (CD45RO) expression by CD4 + and CD8 + lymphocyte subpopulations in 10 adults and seven children with common variable immunodeficiency (CVI) and X-linked hypogammaglobulinaemia (XLA).

common variable immunodeficiency


Input: GAB2 has previously been shown to mediate osteoclast differentiation, and osteoclasts are critical mediators of tumor-related osteolysis.

osteolysis


Input: Campomelic dysplasia (CD; MIM 114290), an autosomal dominant skeletal malformation syndrome with XY sex reversal, is caused by heterozygous de novo mutations in and around the SOX9 gene on 17q.

MIM

sex reversal


Input: Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities.

xanthine dehydrogenase

Classical xanthinuria type I

xanthine dehydrogenase

Classical xanthinuria type I


Input: CDH1 and NEUROG1 were more frequently methylated in extrahepatic cholangiocarcinoma than in intrahepatic cholangiocarcinoma, whereas CHFR, GSTP1, IGF2, MGMT, MINT31, p14, and RBP1 were more frequently methylated in intrahepatic cholangiocarcinoma: the differences was statistically significant (P <. 05).

extrahepatic cholangiocarcinoma


Input: Moreover, potent pharmacologic inhibitors of MYC or EZH2 suppressed prostate cancer cell growth in vitro, and the knockdown of MST1 caused cells' resistance to MYC and EZH2 inhibitor-induced growth retardation.

growth retardation


Input: Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

campomelic dysplasia

campomelic dysplasia


Input: Our results demonstrated for the first time that ischemia/reperfusion induced leptin and leptin receptor gene expression in the rat heart.

leptin receptor gene

ischemia


Input: A missense mutation of the COL4A5 gene may present in this family as possible X-linked inheritance and a mild form of AS.

COL4A5 gene

mild


Input: Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended.

cardiac murmur


Input: To directly test the role of c-Rel in breast tumorigenesis, mice were generated in which overexpression of mouse c-rel cDNA was driven by the hormone-responsive mouse mammary tumor virus long terminal repeat (MMTV-LTR) promoter, and four founder lines identified.

c-rel

tumorigenesis


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.

blood pressure


Input: Thus, RBP4 causes insulin resistance, at least partly, by activating AT APCs that induce CD4 T cell Th1 polarization and AT inflammation.

inflammation


Input: Studies in a murine model of the helminthic infection, schistosomiasis mansoni, led to the discovery of a novel fibrogenic protein, fibrosin.

fibrosin

helminthic infection


Input: The comparison of the staining intensity of the nm23-H1/NDP kinase in primary lesions of tumors with lymph node metastases and those without metastases revealed no statistically significant difference.

NDP

lymph node metastases


Input: Compared with chronic hepatitis, HCC patients had more frequent rs2275913 genotype GG (odds ratios [OR] 3. 317, 95% confidence interval [CI] 1. 663-6. 617, P = 0. 001) and allele G (OR 1. 844, 95% CI 1. 311-2. 595, P < 0. 001), and more frequent haplotypes CG (OR 1. 868, 95% CI 1. 256-2. 778, P = 0. 002) and TG (OR 1. 788, 95% CI 1. 031-3. 101, P = 0. 037) of rs8193036 and rs2275913.

HCC

chronic hepatitis


Input: To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis.

nestin

nephrosis

nestin

nephrosis


Input: Aberrant expression of viral oncoproteins may therefore promote tumourigenesis through increased somatic mutation and aneuploidy due to DDR inactivation.

DDR

aneuploidy


Input: Furthermore, adipositas might be related to the MAPK8IP1 gene.

MAPK8IP1 gene

adipositas


Input: Taken together, RAD51 paralogs prevent degradation of stalled forks and promote the restart of halted replication to avoid replication fork collapse, thereby maintaining genomic integrity and suppressing tumorigenesis.

tumorigenesis


Input: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

3beta-hydroxysteroid dehydrogenase deficiency

3beta-hydroxysteroid dehydrogenase deficiency


Input: Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.

RAC

adhesion


Input: CONCLUSION: These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction.

UTR

cervical cancer


Input: In the nervous system, the functions of NRG1 are essential for peripheral myelination, the establishment and maintenance of neuromuscular and sensorimotor systems and the plasticity of cortical neuronal circuits.

nervous system


Input: On the basis of the data presented here and in a previous study, we were able to establish highly significant correlations between the FBN1 mutation type and the MFS phenotype in a group of 76 mutation-positive patients for whom comprehensive clinical data were available.

MFS

MFS


Input: In summary, these results suggest that activating B-Raf mutations initially promote nevi development, but the resulting high, intense activation of the MAPK pathway inhibits further tumor progression requiring Akt3 activation to bypass this barrier and aid melanoma development.

nevi


Input: HCT-8 colon cancer cells secreted heat shock protein 90alpha (HSP90alpha) and had increased invasiveness upon serum starvation.

colon cancer


Input: We used esophageal squamous cell lines from patients who had GERD with Barrett' s esophagus (normal esophageal squamous [NES]-B3T and NES-B10T) and without Barrett' s esophagus (NES-G2T and NES-G4T) to study effects of acid and bile salts on expression of the CDX2 gene.

NES

esophageal


Input: OVA challenge induced severe airway resistance, inflammation, higher levels of IL-4, TNFα, IL-17A, TGFβ, GATA-3 and RORγT expression and increased Th2 and Th17 cells and IgE responses, but decreased IFNγ and IL-10 responses, T-bet and Foxp3 expression and Th1 and Tregs.

inflammation


Input: These data suggest that increase in APPcc in CA1 neurons could be an early event leading to the translocation of SET and the progression of AD through tau hyperphosphorylation.

translocation


Input: In this study we investigated the effect of TMP on lens opacification induced by sodium selenite in rats, addressing the potential of TMP eye drops to prevent and treat cataracts.

TMP

cataracts


Input: Taken together, we postulate a dual function of OPN in intestinal inflammation: During acute inflammation OPN seems to activate innate immunity, reduces tissue damage and initiates mucosal repair whereas during chronic inflammation it promotes the Th1 response and strengthens inflammation.

inflammation


Input: The D52-86 is associated with varied phenotypes including pulmonary disease (pulmonary fibrosis) as the first presentation.

pulmonary disease


Input: We conclude that cyclin D1 alterations are common in esophageal carcinomas but do not appear to be important in anal carcinogenesis.

cyclin D1

esophageal


Input: Histological and biochemical iron overload has been reported in non-tumoral liver of most patients presenting an hepatocellular carcinoma (HCC) developed in non-cirrhotic liver (NCL).

NCL

iron overload


Input: The ratio of the CRH-RAR-alpha double-staining neurons to the CRH-immunoreactive neurons in affective disorder patients was also increased.

RAR-alpha

affective disorder

RAR-alpha

affective disorder


Input: We provide evidence that hypoxia inhibits CTGF synthesis in human proximal tubular epithelial cells, involving HIF-1alpha.

CTGF

hypoxia


Input: Polymorphism of the interleukin 1 receptor antagonist (IL1Ra) gene and placental abruption.

placental abruption


Input: The PGRN Leu271LeufsX10 mutation was found in 31% of corticobasal syndrome (CBS), 29% of frontotemporal dementia with motorneuron disease (FTD-MND), 15% of behavioral variant frontotemporal dementia (FTD), 9. 5% of primary progressive aphasia (PPA), 2% dementia with Lewy bodies and 0% of progressive supranuclear palsy and multiple system atrophy cases.

CBS

primary progressive aphasia