Input: This SRC-3 overexpression frequency was similar to the overexpression frequency observed for squamous cell carcinoma and adenocarcinoma (82. 1% vs 90%) and for metastasis and non-metastasis patients (84. 6% vs 85. 7%).

squamous cell carcinoma

squamous cell carcinoma


Input: Up-regulation of SETDB1 was significantly associated with HCC disease progression, cancer aggressiveness, and poorer prognosis of HCC patients.

HCC

aggressiveness


Input: We used tetraethylammonium (TEA), a nonselective antagonist of big conductance K (+) channels, to block K (+) channels in glioma cells, and antioxidant N-acetyl-l-cysteine (NAC) to inhibit production of intracellular reactive oxygen species (ROS).

NAC

glioma


Input: The frequencies of the SLCO1B1 521TT genotype were significantly higher in the ulcer group (p = 0. 006) compared to the controls.

ulcer


Input: Several studies have reported that changes in interferon-gamma (IFN-& #947;) may play an important role in the development of BD.

interferon-gamma

BD

interferon-gamma

BD


Input: There was no significant difference observed in the allelic and genotypic distribution between the BPAD and control groups for cPLA2 (genotype: chi2 = 0. 8, 2df, p = 0. 6; allele chi2 = 0, 1df, p = 0. 9), iPLA2 (genotype: chi2 = 1. 7, 2df, p = 0. 4; allele: chi2 = 0. 3, 1df, p = 0. 6), and sPLA2 (allele: chi2 = 3. 6, 6df, p = 0. 8).

BPAD

BPAD


Input: With the use of split signal DNA probes, 1 case showed a trisomy of the BCL2 locus and another displayed BCL6 and IGH breakpoints that would suggest a t (3; 14).

trisomy


Input: The E3 ubiquitin ligase Siah2 has been implicated in the regulation of the hypoxia response, as well as in the control of Ras, JNK/p38/NF-kappaB signaling pathways.

E3 ubiquitin ligase

hypoxia


Input: L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: We also found that GSTP1 Ile105Val might modify the association between intake of poultry cooked with high temperature methods and CRC risk (p = 0. 0035), a finding that was stronger among rectal cancer cases.

high temperature


Input: Taken together our data show that both NO and capsaicin-sensitive afferent neurons are involved in PAR-2-mediated colonic inflammation and paracellular permeability increase.

inflammation

inflammation


Input: We found elevated intrahepatic mRNA expression of all three chemokines, most markedly CXCL10, in chronic HCV-infected patients with higher necroinflammation and fibrosis.

fibrosis


Input: The Hspb1 gene was found to be downregulated in middle-aged animals as well as those with mild presbycusis, whereas it was upregulated in those with severe presbycusis.

Hspb1 gene

presbycusis


Input: In most cases, EZ loss was observed only at locations where NIR-AF was reduced or absent, indicating that RPE cell atrophy occurs in advance of photoreceptor cell degeneration.

NIR

atrophy


Input: Frameshift and missense mutations in the X-linked neuroligin 4 (NLGN4, MIM #300427) and neuroligin 3 (NLGN3, MIM #300336) genes have been identified in patients with autism, Asperger syndrome and mental retardation.

MIM

autism


Input: By classifying 360 infertile patients into 174 azoospermia and 186 oligoasthenoteratozoospermia (OAT) subjects, the MTHFR 677TT and MS 2756GG types were significantly associated with the azoospermia group (P = 0. 0227 and 0. 0063, respectively).

OAT

infertile


Input: A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

transforming growth factor-beta-induced

lattice corneal dystrophy type I

transforming growth factor-beta-induced

lattice corneal dystrophy type I


Input: The extent of capsaicin-or SP-induced plasma leakage and hypotension was significantly attenuated in rats on day 1 after SPA hyperthermia.

SPA

hyperthermia


Input: Kindlin-2 promotes genome instability in breast cancer cells.

genome instability


Input: SNORD50A and SNORD50B snoRNAs thus directly bind and inhibit K-Ras and are recurrently deleted in human cancer.

cancer

cancer


Input: To investigate whether chemokine receptor CCR5 is associated with TBE, CCR5Delta32 genotyping was performed among Lithuanian patients with TBE (n = 129) or with aseptic meningoencephalitis (n = 76) as well as among control subjects (n = 134).

meningoencephalitis


Input: We also identified somatic RRAS mutations (p. Gly39dup and p. Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood myeloproliferative/myelodysplastic disease caused by upregulated RAS signalling, defining an atypical form of this haematological disorder rapidly progressing to acute myeloid leukaemia.

RRAS

juvenile myelomonocytic leukaemia

RRAS

juvenile myelomonocytic leukaemia


Input: The BCL11A variant (rs11886868-' C') increases hemoglobin (P = 2 × 10 (-3)) and one of the HBS1L-MYB variants decreases WBC values selectively (P = 2. 3 × 10 (-4)).

hemoglobin


Input: This adhesion is often mediated by P-fimbriae, which recognize and specifically bind to the receptor structure (alpha-D-Galp-(1-4) beta-D-Galp) present on the cell membranes of human urinary tract epithelium.

Galp

adhesion


Input: The elevated IDL/LDL level of LDLR-/-mice was reduced to normal 4 d after the intravenous injection of a recombinant replication-defective adenovirus encoding the human LDL receptor driven by the cytomegalovirus promoter.

LDLR

adenovirus


Input: The MMP9, MMP3 and TIMP3 (tissue inhibitors of matrix metalloproteinases) polymorphisms and MMP3 and MMP12 haplotypes may play a substantial role in susceptibility to severe airway and lung injury in children with chronic bronchitis and recurrent pneumonia.

recurrent pneumonia


Input: The mean levels of COX-2 mRNA expression (0. 25 +/-0. 06) and NF-kappaB activity (89 +/-13) in nasal polyps from AIAR were significantly lower than in polyps from ATAR (COX-2 = 1. 58 +/-0. 50, and NF-kappaB = 143 +/-12, P < 0. 01 and P < 0. 05, respectively).

ATAR

polyps


Input: The effect of LOX small interfering RNA (siRNA) on the EMT and motility of gastric cancer cells under hypoxic condition was analyzed by reverse transcription PCR, Western blot, a wound-healing assay, and an invasion assay.

LOX

hypoxic


Input: We have refined the critical region on chromosome 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, that is mutated in patients with Cohen syndrome.

Cohen syndrome

Cohen syndrome


Input: The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study.

FRAXF

inborn errors of metabolism


Input: Our results suggested that IRF4 may play a role in the systemic inflammation of allergic asthma patients by facilitating the differentiation of Th2 and Th17 cells at least at the transcriptional level.

inflammation


Input: Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome.

Poretti-Boltshauser syndrome

Poretti-Boltshauser syndrome


Input: A unique case of refractory primary mediastinal B-cell lymphoma with JAK3 mutation and the role for targeted therapy.

B-cell lymphoma

B-cell lymphoma


Input: However, biopsy specimens retain value for showing fibrosis/cirrhosis and dysplastic hepatocytes, both of which increase risks of HCC development.

HCC

fibrosis


Input: RT-qPCR analysis validated that let-7b-5p and miR-1-3p for hepatocellular injury, miR-143-3p and miR-218a-5p for cholestasis, and miR-320-3p for steatosis models showed significant increases in the early stage of the injuries.

cholestasis

cholestasis


Input: We propose that ATL cells adhere to endothelial cells through an adhesion cascade similar to normal leukocytes and that the chemokines produced by ATL cells are involved in triggering integrin LFA-1 through cytoskeletal rearrangement induced by G-protein-dependent activation of phosphoinositide 3-kinases in an autocrine manner.

adhesion


Input: Upon injection into normal rats, anti-DAF F (ab') 2 Abs bound to GEC in vivo, yet there was no evidence for complement activation and animals did not develop abnormal albuminuria.

DAF

albuminuria


Input: We determined 24-hour energy expenditure (24-h EE) (kilocalories) (n = 2) and resting metabolic rate (RMR) per kilogram of lean body mass (LBM) (n = 3) in CGL-1 and in 18 healthy control subjects.

lean body mass


Input: To better define the involvement of human leukocyte antigen region (HLA) genes in migraine via an association study of the tumor necrosis factor (TNF) genes, located in the HLA class III region, with migraine with and without aura.

TNF

aura


Input: Six hundred and twenty-six individuals exhibiting partial or complete coumarin resistance were analyzed by VKORC1 gene sequencing and CYP2C9 haplotyping.

coumarin resistance

coumarin resistance


Input: At 10 h after CLP (i. e., severe sepsis), human AM (12-48 microg/kg body weight) was administered in combination with human AMBP-1 (40-160 microg/kg body weight).

CLP

severe sepsis


Input: The greatly increased incidence of AD following stroke and cerebral ischemia suggests that hypoxia is a risk factor which may accelerate AD pathogenesis by altering amyloid precursor protein (APP) processing.

APP

hypoxia


Input: Furthermore, we evaluated CRP levels, glucose, insulin, and lipid profile, and we found higher CRP values in PWS adults with respect to children with PWS and controls, and a better insulin sensitivity in all PWS subjects than in the controls.

CRP

insulin sensitivity


Input: Two key events that may underlie the antitumor activity of rapamycin were decreased expression of ErbB3 and inhibition of hypoxia-inducible factor-1-dependent responses to hypoxic stress.

hypoxic


Input: PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/> 1. 5) and were used to generate the inflammatory risk score (IRS).

regression


Input: T-cell prolymphocytic leukaemia (T-PLL) is a sporadic, mature T-cell disorder in which there is usually an aberrant T-cell receptor alpha (TCRA) rearrangement that activates the TCL1 or MTCP1-B1 oncogenes.

sporadic


Input: Loss of Cables expression in 65% of CRCs suggests that it is a common event in colonic carcinogenesis, with promoter methylation and LOH appearing to be important mechanisms of Cables gene inactivation.

Cables

CRC

Cables

CRC


Input: C-type NP dilates arteries and lowers blood pressure, and it inhibits the proliferation of vascular smooth muscle cells via the type B NP receptor (NPRB).

NPRB

blood pressure


Input: The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs.


Input: Interleukin-4 (IL-4) and interleukin-4 receptor (IL-4R) modulate inflammation and are associated with the colorectal adenoma-carcinoma progression and the metastatic capacity.

inflammation


Input: To explore the use of apoptin in tumor gene therapy, we assessed a recombinant adenovirus expressing the apoptin protein (Ad-hTERTp-E1a-Apoptin) in order to determine its lethal and growth-inhibitory effects on PC-3 and RM-1 cells in vitro and its antitumor effect on solid tumors in vivo.

adenovirus


Input: In none of the sporadic AD patients did we find the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes.

ACT

sporadic


Input: These abnormalities are reminiscent of other retinal degeneration phenotypes (in particular rd7/rd7 mice) where photoreceptor cell loss occurs.

abnormalities


Input: Thus, SIRT1 protects against emphysema through FOXO3-mediated reduction of cellular senescence, independently of inflammation.

inflammation


Input: Immunohistochemical double labeling demonstrated the presence of mRNA for MT1-MMP in fibroblasts and macrophages, as well as in osteoclast-like cells at sites of bone resorption.

bone resorption


Input: A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT).

cblC

jaundice


Input: These findings suggest that ANG II infusion induces an imbalance between excitatory and inhibitory neurotransmitters and an imbalance between pro-and anti-inflammatory cytokines in the PVN, and PVN inhibition of the RAS restores neurotransmitters and cytokines in the PVN, thereby attenuating ANG II-induced hypertension and cardiac hypertrophy.

ANG

cardiac hypertrophy


Input: SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0. 704, 95% CI 0. 635-0. 778, P = 1. 44 x 10 (-11); and ABCA4, most significant SNP rs560426, with OR = 1. 432, 95% CI 1. 292-1. 587, P = 5. 01 x 10 (-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.

MAFB

cleft lip

MAFB

cleft lip


Input: According to our knowledge, this is the first mutation screening of Chk1, Chk2, Apaf1 and Rb1 in human malignant mesothelioma.

malignant mesothelioma


Input: Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization.

MC-HGA

MC-HGA


Input: HepaRG-AMC-BALs were connected to the blood circulation of rats with total liver ischaemia, either during the first 5 h after induction of ischaemia (mild ALF group), or during the following 10 h (severe ALF group).

ALF

mild


Input: The activity of the reverse mode of NCX was found significantly higher at the initial time of reperfusion, and KB-R7943, a selective inhibitor of the reverse mode of NCX, administered at first 10 min of reperfusion rather than at the time of ischemia significantly attenuated myocardial stunning.

NCX

myocardial stunning


Input: We studied ICAM-1 K469E polymorphism among symptomatic and asymptomatic NCC patients.

NCC

asymptomatic


Input: Furthermore, 128 biopsies from 16 advanced achalasic patients were prospectively collected and evaluated for grades of inflammation, hyperplasia, dysplasia and also for p53 and PCNA proteins.

PCNA

inflammation


Input: The t (12; 14) is the first neoplasia-associated translocation shown to result in overexpression of cyclin D2.

cyclin D2

translocation


Input: FISH analysis of 5 cases revealed an intact EWS gene locus, supporting absence of the clear cell sarcoma 12; 22 translocation.

EWS gene

translocation


Input: However, the cause-and-effect relationship between normal aging and progerin production in normal individuals has not yet been determined.

progerin

aging


Input: These data demonstrate hypoxia-induced autophagy is at least partially regulated by miR-96; miR-96 can promote or inhibit autophagy by principally inhibiting MTOR or ATG7 depending on the expression levels of miR-96.

MTOR

hypoxia


Input: In this study, we evaluate the value of identifying MAML2 rearrangement by fluorescence in situ hybridization (FISH) to distinguish TMEC from poorly differentiated squamous cell carcinoma and adenosquamous carcinoma.

FISH

adenosquamous carcinoma


Input: Serum CCN2 was a reliable marker for the assessment of liver fibrosis, with areas under the receiver operating characteristic (ROC) curves (AUC) of 0. 94 or 0. 85 for, respectively, distinguishing normal liver controls from patients with F1 stage liver fibrosis or discriminating between mild and significant fibrosis.

mild


Input: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: Moreover, in other forms of spondyloarthropathy, a similar association has been reported: 42% of patients with spondyloarthropathy and associated asymptomatic chronic gut inflammation, who are considered likely to develop Crohn' s disease and ankylosing spondylitis, are carriers of at least one CARD15 mutation, compared with only 7% of patients with normal histology.

asymptomatic


Input: When patients with HC were divided into 3 groups on the basis of their NT-pro-BNP levels, there were statistically significant linear associations of LV end-systolic volume (test for linearity p = 0. 034), LV mass index (p = 0. 009), proportion of hypokinetic segments (p = 0. 016), and levels of serum aminoterminal propeptide of type III procollagen (p = 0. 020) with NT-pro-BNP levels over the 3 groups, suggesting a tight relation between LV remodeling and levels of NT-pro-BNP.

BNP

hypokinetic


Input: All four mutations did not affect localization of FGE in the endoplasmic reticulum of MSD fibroblasts.

FGE

MSD

FGE

MSD


Input: Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities.

cathepsin K

abnormalities


Input: Fusion-positive cell lines showed impaired barrier properties, reduced cell-cell and cell-extracellular matrix adhesion, retarded wound healing, and inhibition of RHOA.

RHOA

adhesion


Input: To explore the molecular mechanisms of the proteinuria-induced TI injury further, we have analyzed renal gene expression with DNA microarrays, with and without specific inhibition of NF-kappaB in the proximal tubules.

NF-kappaB

proteinuria


Input: Co-expression of Nm23H1 but not H2 in NIH3T3 cells effectively suppressed neoplastic transformation and tumorigenesis induced by the oncogenic H-Ras G12V mutant.

tumorigenesis


Input: In secondary analysis, marginal statistical significance was observed with the change in both serum glucose concentrations (P = 0. 003) and HOMA-IR (P = 0. 007) being predictive of the fold change in ZnT6.

secondary


Input: To further elucidate the molecular mechanisms involved in hypertensive vascular remodeling, an immunohistochemical technique and Western blot were applied to study phospho-extracellular signal-regulated kinase (ERK1/2) and transforming growth factor beta1 (TGF-beta1) expression in endothelial and vascular smooth muscle cell (VSMC) of the thoracic aorta and renal arterioles from SHR of different ages.

vascular remodeling


Input: To further refine those results and to determine sequential relationships among CN, DN, and HCC, LOH was next studied in an additional 53 HCCs, 56 HGDNs, 30 LGDNs, and 215 CNs from 11 explanted human cirrhotic livers, including 30 " nodule-in-nodule " lesions.

HCC

nodule


Input: SCN1A deletions should be ruled out even in individuals with mild phenotypes.

mild


Input: Different mutations of the human mineralocorticoid receptor (hMR) gene have been identified in subjects affected by the autosomal dominant or sporadic form of the disease.

mineralocorticoid receptor

sporadic


Input: This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c. 1225 + 5G > C mutation predicts a mild ARC phenotype.

mild


Input: Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.

prion protein

FFI

prion protein

FFI


Input: IFN-γ, IL-21, and IL-10 co-expression in evolving autoimmune vitiligo lesions of Smyth line chickens.

vitiligo


Input: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) can both be due to mutations in the genes encoding β-myosin heavy chain (MYH7) or cardiac myosin-binding protein C (MYBPC3).

heavy chain

dilated cardiomyopathy


Input: A large number of tumor cell lines derived from neuroectoderm express DRT transcripts, including 12 neuroblastomas, two medulloblastomas, one primitive neuroectodermal tumor and six small cell lung carcinomas (SCLC).

DRT

primitive neuroectodermal tumor


Input: In EC-SOD knockout mice, blood pressure was reported to be significantly higher than that seen in wild-type mice.

EC-SOD

blood pressure


Input: They were evaluated for heritable thrombophilia (factor V Leiden and factor II G20210A mutations, protein S, protein C, and antithrombin deficiency), hyperhomocystinemia, lupus anticoagulant, and anticardiolipin antibodies.

protein C

hyperhomocystinemia


Input: The mRNAs for aFGF and bFGF were expressed in the cells of various tumors (1/1 and 1/1 astrocytoma, 2/2 and 2/2 anaplastic astrocytomas, 6/6 and 6/6 glioblastomas, 4/4 and 4/4 meningiomas, 3/3 and 3/3 schwannomas, 1/2 and 1/2 pituitary adenomas, 4/4 and 4/4 metastatic carcinomas, 0/1 an 0/1 hemangioblastoma, 0/1 and 0/1 craniopharyngioma) and were also detected in endothelial cells and surrounding neuronal cells of brain tumors.

aFGF

schwannomas


Input: If animals were further treated with prolactin, the development of HT and MT was accelerated, whereas that of PT was suppressed.

prolactin

PT

prolactin

PT


Input: However, the frequency of T12A was higher for the azoospermic (20. 5%) than oligozoospermic (9. 6%) individuals in infertile men without DAZ deletions, although statistical difference was not so apparent (chi2 test: P = 0. 037, OR = 2. 413, 95% CI = 1. 035-5. 629; Yate' s chi2 test: P = 0. 058, OR = 2. 319, 95% CI = 0. 973-6. 166).

DAZ

infertile


Input: OBJECTIVE: To evaluate the association between the vascular endothelial growth factor (VEGF) polymorphism and the risk of recurrent spontaneous miscarriage (RSM).

VEGF

miscarriage


Input: Locoregional chemotherapy continues to be the mainstay for the treatment of unresectable hepatocellular carcinoma (HCC).

HCC

unresectable hepatocellular carcinoma


Input: Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

CFTR

CF

CFTR

CF


Input: This study evaluated polymorphisms IL-1RN VNTR and TNFB + 252A/G in a population from Southeast Brazil with regard to the risk of chronic gastritis and gastric cancer and the presence of an association of gastric lesions with risk factors such as gender, age, smoking, drinking and Helicobacter pylori infection.

TNFB

smoking


Input: PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.

PFIC

fibrosis


Input: These results suggest that HCN1 and HCN2 are involved in inflammation-induced sensory neuron hyperexcitability, and indicate that an opioid receptor agonist can reverse the protein upregulation.

inflammation


Input: Differential expression of pentraxin 3 in fibroblasts from patients with major depression.

pentraxin 3

major depression

pentraxin 3

major depression


Input: RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

myotonic muscular dystrophy

myotonic muscular dystrophy


Input: Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

hypohidrotic ectodermal dysplasia

hypohidrotic ectodermal dysplasia


Input: The expression of myocilin in the normal rat kidney and its changes during mesangioproliferative glomerulonephritis were investigated by immunohistochemistry, one-and two-dimensional gel electrophoresis with Western blotting, and reverse transcription-polymerase chain reaction (RT-PCR).

myocilin

glomerulonephritis


Input: To quantify and compare human mucin 1 (MUC1) protein and mRNA expression in tears and conjunctival epithelial cells collected from Sjogren' s syndrome (SS), non-Sjogren' s keratoconjunctivitus sicca (KCS) and non-dry eyed (NDE) control subjects.

NDE

dry


Input: In acute measles infection, measles genome was detected in all cell fractions, CD4, CD8, B cells, and monocytes/macrophages by the H gene nested PCR.

measles


Input: The GSTM3 promoter polymorphism was associated with forced expiratory volume in 1 s/forced vital capacity ratio (P = 0. 010), and the GSTT1 genotype with emphysematous signs (P = 0. 008), including paraceptal (P = 0. 015), panlobular (P = 0. 031), and bullae-type (P = 0. 045) changes.

vital capacity


Input: Topiramate' s reduction of body mass index in heavy drinkers: lack of moderation by a GRIK1 polymorphism.

body mass index


Input: The Gly49 allele in the beta1-adrenergic receptor and the 5' LC-Cys19, Arg16, and Gln27 alleles in the beta2-adrenergic receptor were associated with a lower risk of heart failure in idiopathic dilated cardiomyopathy, suggesting that the beta1-and beta2-adrenergic receptor genes are modifier genes.

heart failure


Input: The NAT2 phenotype polymorphisms and gastric cancer risk predisposition were not modified by concomitant H pylori infection and smoking.

smoking


Input: In this article, we demonstrate the assessment of HME, IME, and LME in a group of 233 sporadic CRCs using seven markers proposed by Yagi et al.

HME

sporadic


Input: We report a case of de novo AML M4 subtype, with a t (11; 12) (p15; q13) translocation, generating a NUP98-HOXC13 chimeric transcript.

translocation


Input: Transient forebrain ischemia resulted in a marked activation of nuclear NF-kappa B in the highly vulnerable CA1 sector.

ischemia


Input: Both glomerular and tubular injury occurred as evidenced by heavy proteinuria, albuminuria and increased urine N-acetyl glucosaminidase (NAG) excretion.

NAG

albuminuria


Input: The maternal NAT2 acetylator status, however, was not associated with an increased risk for orofacial cleft or spina bifida offspring, nor in combination with periconceptional smoking or medication use.

smoking


Input: Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex.

Syndromic diarrhea

Syndromic diarrhea


Input: CblC disease should be considered in the differential diagnosis of pulmonary hypertension.

CblC

pulmonary hypertension


Input: TRB sequences of Melan-A-specific clonotypes obtained from melanoma patients were highly heterogeneous, but displayed a preferential usage of few TRBV and TRBJ segments.

TRB

melanoma


Input: Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syndrome or a phenotypic variant.

parathyroid carcinoma

parathyroid carcinoma


Input: Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.

Hailey-Hailey disease

Hailey-Hailey disease


Input: Prolonged ischemia of the lower limbs of patients with chronic arterial occlusion causes increased concentration of protein CO groups in serum, as the result of the oxidative modification of protein side chains, and in the oxidase activity of Cp, due to acute phase reaction.

Cp

ischemia

Cp

ischemia


Input: In the current WHO classification of myeloid disorders, chronic neutrophilic leukaemia (CNL) is recognized as a myeloproliferative neoplasm characterized by sustained neutrophilic leukocytosis, hepatosplenomegaly and bone marrow granulocytic hyperplasia without evidence of dysplasia, BCR-ABL1 or rearrangements of PDGFRA, PDGFRB or FGFR1.

chronic neutrophilic leukaemia


Input: In this study, we show that TAZ is phosphorylated by the Lats tumor suppressor kinase, a key component of the Hippo pathway, whose alterations result in organ and tissue hypertrophy in Drosophila and contribute to tumorigenesis in humans.

TAZ

tumorigenesis


Input: Clinical trials to treat cancers with adenovirus expressing the human IFN-beta gene (IFNB1) has been planned.

adenovirus


Input: I explain that I was able to advance the field of prion disease neuropathology largely because of the foundation of neurochemistry and immunohistochemistry that I learned while working 5 years in Dr. Eng' s laboratory.

Eng' s

prion disease


Input: The odds ratios (ORs) for the association between IL-2 polymorphism [OR = 2. 78, 95% CI (confidence interval) = 1. 26-6. 17 (T/T to G/G)] or IL-4 polymorphism [OR = 2. 22, 95% CI = 1. 01-4. 89 (T/C to C/C)] were increased significantly with gastric atrophy, whereas the corresponding OR of IL-13 polymorphism was decreased with gastric atrophy [OR = 0. 61, 95% CI = 0. 39-0. 96 (C/T and T/T to C/C)].

gastric atrophy


Input: METHODOLOGY: In a case-control study including 419 controls and 389 patients with sporadic GC, single nucleotide polymorphisms (SNPs) of p53 Arg72Pro, p21 Ser31Arg, and p73 G4C14-to-A4T14 at exon 2 were genotyped.

sporadic


Input: To investigate a putative role of TSPYL1 in male idiopathic infertility.

infertility


Input: In this study, we analyzed NRP-1 expression level in 40 acute leukemia patients [20 acute myeloid leukemia (AML) and 20 acute lymphoblastic leukemia (ALL)] and 10 healthy controls using Real-Time Quantitative Reverse-Transcriptase Polymerase Chain Reaction (RTQ-PCR) aiming to show Neuropilin-1 (NRP-1) gene expression pattern in acute leukemia patients and its role in disease severity and progression.

NRP

acute myeloid leukemia


Input: Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders.

bipolar disorders

bipolar disorders


Input: We found that mice lacking CCR7 had increased right ventricular systolic pressure, reduced pulmonary artery acceleration time, increased right ventricular/tibial length ratio, Rho kinase-mediated pulmonary vasoconstriction, and increased muscularization of distal arteries, indicating pulmonary hypertension.

Rho kinase

pulmonary hypertension


Input: To evaluate the effects of clusterin-antisense treatment in vivo, we applied an SCID-mouse/human-melanoma xenotransplantation model.

clusterin

melanoma

clusterin

melanoma


Input: Novel role of triazenes in haematological malignancies: pilot study of Temozolomide, Lomeguatrib and IL-2 in the chemo-immunotherapy of acute leukaemia.

leukaemia

leukaemia


Input: The PON1 Q/R polymorphism was found to have significant association with hypertension (p = 0. 046) and chronic constipation (p = 0. 028) whereas, the L/M polymorphism, with diabetes (p = 0. 036), arteritis (trend p = 0. 022) and hemorrhoids (trend p = 0. 027).

arteritis

arteritis


Input: C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.

venous thrombosis


Input: Function-neutralizing antibody to integrin alpha (2) beta (1) effectively suppressed the Cyr61-mediated enhanced adhesion of AGS cells to peritoneal tissue.

adhesion


Input: These findings suggest that " affected CYP1B1 genotypes " exhibit variable expressivity rather than nonpenetrance.

variable expressivity


Input: These data indicate that only the combined analyses of genetic alterations in the IL-4/IL-13 pathway reveal its actual significance to the development of atopy and childhood asthma.

atopy


Input: The analysis of the presence of PIK3CA and B-RAF gene mutations in relation to ERK and AKT activation in diffusely infiltrating astrocytomas, in order to determine their potential role in tumor aggressiveness.

aggressiveness


Input: Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.

prostate cancer

prostate cancer


Input: The lack of correlation between protein expression levels and 20q DNA copy number status implies that CSE1L, DIDO1 and RBM39 are merely passengers rather than drivers of chromosome 20q gain in colorectal adenoma-to-carcinoma progression.

carcinoma


Input: Fatty-acid binding protein 4 gene variants and childhood obesity: potential implications for insulin sensitivity and CRP levels.

CRP

insulin sensitivity


Input: In this study we investigated the activation of the AKT pathway and its downstream effectors, glycogen synthase kinase-3b and Forkhead box O (FOXO)-1 by progesterone as a mechanism of proliferation and survival of leiomyoma cells.

AKT

leiomyoma


Input: Neither NaV1. 8 AS ODN nor NaV1. 9 AS ODN affects melittin-induced mechanical hypersensitivity.

NaV1. 8

hypersensitivity


Input: Disruption of this gene was indicated in a patient with a t (8; 17) (p11; q25) and Ph-negative chronic myeloid leukemia in association with systemic malignant mast cell disease, a patient with acute myeloid leukemia with a t (8; 11) (p11; p15), and two cases with T-cell lymphoma, myeloproliferative disorder, and marrow eosinophilia with a t (8; 12) (p11; q15) and ins (12; 8) (p11; p11p21), respectively.

eosinophilia


Input: Fusion of the EWS gene on chromosome 22 and the WT1 gene on chromosome 11, resulting from the chromosomal translocation t (11; 22) (p13; q12), was detected by reverse transcriptase polymerase chain reaction (RT-PCR) in both cases.

EWS gene

chromosomal translocation


Input: Mammalian homologues of Bv8, the prokineticins PK1 and PK2, and their G-protein coupled receptors prokineticin receptor 1 (PKR1) and prokineticin receptor 2 (PKR2) have been identified and linked to several biological effects as gut motility, neurogenesis, angiogenesis, circadian rhythms, hematopoiesis, and nociception.

circadian rhythms


Input: SUP-induced increased paracellular permeability correlated with the severity of abdominal pain.

SUP

abdominal pain


Input: In this study, we investigated CD99 immunoreactivity using immunohistochemistry and Ewing' s sarcoma/Friend leukaemia virus integration 1 (EWS/FLI1) translocation using the fluorescence in situ hybridization (FISH) method in 23 cases.

EWS

translocation


Input: Lung ADCs lacking receptor tyrosine kinase-Ras-Raf pathway alterations had mutations in SOS1, VAV1, RASA1, and ARHGAP35.

ADC

ADC


Input: BAFF transgenic mice can be used in future studies to test compounds of therapeutic value for the treatment of mood disorders associated with autoimmune diseases.

BAFF

mood disorders

BAFF

mood disorders


Input: We examine the HIC1-SIRT1-p53 alterations in 118 lung cancer patients to define their etiological roles in tumorigenesis.

tumorigenesis


Input: Associations of GSTM1-null variants with asthma (P = 0. 03), younger age of asthma symptom onset (P = 0. 03), and greater airflow obstruction (reduced forced expiratory volume in 1 s/forced vital capacity, P = 0. 01) were observed among the 50 children (10% of the cohort) with exposure to IUS.

vital capacity


Input: To observe the dynamic expression of GDNF and their receptors in the brain of rats after status epilepticus (SE).

GDNF

status epilepticus

GDNF

status epilepticus


Input: Taken together, these results provide preliminary evidence for the role of the PER2 gene in regulating striatal D2R availability in the human brain and in vulnerability for cocaine addiction.

cocaine addiction

cocaine addiction


Input: Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.

retinoblastoma

retinoblastoma


Input: Phosphatase and tensin homologue deleted on chromosome 10 deficiency accelerates tumor induction in a mouse model of ErbB-2 mammary tumorigenesis.

tensin

mammary tumorigenesis


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


Input: We have trialled denaturing high-performance liquid chromatography (dHPLC) as a tool for rapid germline mutation scanning of genes implicated in three familial cancer syndromes--Cowden syndrome (PTEN mutation), multiple endocrine neoplasia type 2 (RET mutation) and von Hippel-Lindau disease (VHL mutation).

PTEN

Cowden syndrome

PTEN

Cowden syndrome


Input: These data demonstrate that Ras is able to promote monocyte lineage selection via PKC and show for the first time the involvement of the kinase master regulator, PDK1, in both lineage specification and in human leukemia.

leukemia


Input: The 3 G/3 G genotype of the TYMS gene may indicate predisposition of poor response to MTX and GG genotype of GGH-354 T > G polymorphism may have high predictive value for myelosuppression in RA patients.

MTX

myelosuppression


Input: Conversely, duodenopancreatic reflux of proteolytically active enteropeptidase may cause acute and chronic pancreatitis.

enteropeptidase

reflux


Input: In this paper, we validated the hypothesis that HPGDS has a role in the etiology of muscular necrosis.

HPGDS

necrosis


Input: Elevated endogenous expression of the dominant negative basic helix-loop-helix protein ID1 correlates with significant centrosome abnormalities in human tumor cells.

abnormalities


Input: In our study, an adenovirus-mediated APE1 silencing strategy was introduced to test its therapeutic enhancement for the non-small cell lung cancer cell line A549 both in vitro and in vivo after hematoporphrphyrin derivative (HpD)-mediated PDT.

adenovirus


Input: In this study, we report a miR-203-SIK2 axis that involves in the regulation of Taxol sensitivity in colon cancer cells.

colon cancer


Input: In situ, glioma cells expressed beta 1, the common beta chain of most integrin ECM receptors, while ECM components were restricted to vascular elements.

common beta chain

glioma


Input: We find that polycystin-1 is the rate-limiting component of this complex and that there is a dose-response relationship between cystic dilation and levels of functional polycystin-1 following mutation of Prkcsh or Sec63.

dilation


Input: In this study, we tested the genetic association of DGKH, DFNB31 and SORCS2 with BD.

BD

BD


Input: Docetaxel and epirubicin supported by granulocyte colony-stimulating factor first-line in advanced breast cancer.

granulocyte colony-stimulating factor

breast cancer

granulocyte colony-stimulating factor

breast cancer


Input: We mapped an additional 40 consanguineous families segregating nonsyndromic hearing loss to the DFNB39 locus and refined the obligate interval to 1. 2 Mb.

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: This study investigated the regulation of several genes and proteins involved in the activation of key signaling pathways promoting muscle hypertrophy, including GH/STAT5, IGF-1/Akt/GSK-3beta/4E-BP1, and muscle atrophy, including TNFalpha/SOCS-3 and Akt/FKHR/atrogene, in muscle biopsies from 13 young (20 +/-0. 2 years) and 16 older (70 +/-0. 3 years) males.

muscle hypertrophy


Input: Since EGFR signaling is implicated in renal fibrosis, targeting ADAM17 to reduce availability of EGFR ligand TGF-alpha may represent a promising way of intervention in human renal disease.

renal fibrosis


Input: FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males.

FSH receptor

infertile


Input: To identify the autoantigen recognized by the autoantibody that is associated with clinically amyopathic dermatomyositis (C-ADM) and rapidly progressive interstitial lung disease (ILD).

ADM

amyopathic dermatomyositis


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

CCNH

glioblastoma multiforme

CCNH

glioblastoma multiforme


Input: In this study, we found that CD44, a cell surface marker for cancer stem cells, interacts with pyruvate kinase M2 (PKM2) and thereby enhances the glycolytic phenotype of cancer cells that are either deficient in p53 or exposed to hypoxia.

hypoxia


Input: The functional significance of HO-1 so induced was uncovered in the HO-1 knockout mouse: Repeated administration of hemoglobin to HO-1 +/+ and HO-1-/-mice led to intense interstitial cellular inflammation in HO-1-/-mice accompanied by striking up-regulation of MCP-1 and activation of one of its stimulators, nuclear factor-kappaB (NF-kappaB).

hemoglobin


Input: The aim of this study was to study the effect of trichostatin A (TSA), a histone deacetylase (HDAC) inhibitor, on transforming growth factor (TGF)-β1-induced myofibroblast differentiation and ECM accumulation in nasal polyp-derived fibroblasts (NPDFs).

TSA

nasal polyp


Input: To gain insight into the molecular mechanisms underpinning CRC in Saudi Arabian patients, we profiled the DNA methylation frequency of key genes (MLH1, MSH2, RASSF1A, SLIT2, HIC1, MGMT, SFRP1, MYOD1, APC, CDKN2A, as well as five CIMP markers) in 120 sporadic CRC cases.

sporadic


Input: These results suggest that p73 may play a role in hepatocellular carcinogenesis in a different manner from a Knudson two-hit model.

hit


Input: The Leu518Pro mutated betaig-h3 forms amyloidogeneic intermediates which precipitate in the cornea and gives rise to a clinical appearance of LCDI.

LCDI

LCDI


Input: The inhibition of apoptosis was associated with a decrease in expression of the proapoptotic molecules, BAK and BAX, and activation of the antiapoptotic phosphatidylinositol 3 kinase (PI3K) and AKT pathway, providing potential mechanisms for the effects of RAB25 on tumor aggressiveness.

aggressiveness