Input: To clarify the function of integrin alpha (v) beta3 in the early stage of liver metastasis, we investigated the interactions of metastatic cells with their target organ under the actual blood flow by using positron emission tomography (PET).

liver metastasis


Input: DNA was analyzed for polymorphisms of fibrinogen, prothrombin (factor II), factor V, factor VII and plasminogen activator inhibitor type 1, all of which are associated with gain of function of the protein.

factor II

fibrinogen


Input: Even though the Th1 T cell-rich myocarditis plays a pivotal role in CCC pathogenesis, little is known about the factors controlling inflammatory cell migration to CCC myocardium.

myocarditis


Input: While there are reports that classical selenium-dependent glutathione peroxidase (Se-GPX1) activity is decreased during iron deficiency, the relationship between tissue iron status and Se-GPX1 activity remains speculative.

iron deficiency


Input: Furthermore, PF-06463922 treatment led to regression of EML4-ALK-driven brain metastases, leading to prolonged mouse survival, in a superior manner.

ALK

regression


Input: Very tight linkage could be excluded between breast cancer and ABO, GC, GPT, MNS, and PGM1 for some of the different linkage analyses.

breast cancer


Input: We examined the interaction of angiotensin I-converting enzyme (ACE), angiotensinogen (AGT), and endothelial nitric oxide synthase (NOS3) polymorphisms with environmental factors (gender, age, body mass index, glycemia, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, estimated glomerular filtration rate, and urinary sodium excretion) in 70 resistant, 80 well-controlled hypertensive patients, and 70 normotensive controls.

body mass index


Input: In this review, the authors provide evidences that imply the role of tumor necrosis factor-alpha (TNF-alpha) in the pathogenesis of diabetic complications, especially diabetic polyneuropathy.

TNF-alpha

diabetic polyneuropathy


Input: Simultaneous downregulation of Bcl-x (L) was an additional requirement for cisplatin hypersensitivity, as p53-dependent cell death could be antagonized by exogenous Bcl-x (L).

hypersensitivity


Input: Several single nucleotide polymorphisms (SNPs) in the promoters of EP2, TBX21, COX-2, Fc epsilon RIbeta, and TBXA2R were associated with AIA, while an Fc epsilon RIalpha promoter polymorphism was associated with AIU.

AIA

AIA


Input: Here we show that a single intracerebral injection of 17β-estradiol to ovariectomized female rats immediately after ischemia rescues CA1 neurons destined to die.

ischemia


Input: c-MET was found to be expressed in normal B cells and in B-ALL patients with the t (12; 21) TEL-AML1 translocation, but it is not expressed in the most part of B-ALL without the t (12; 21).

MET

translocation


Input: The KCOT-1 cells were characterized by growth rate, gene expression profiles of major tooth enamel matrix proteins (EMPs), amelogenin (AMELX), enamelin (ENAM), ameloblastin (AMBN), amelotin (AMTN), tumor-related proteins enamelysin (MMP-20), kallikrein-4 (KLK-4), and odontogenic ameloblast-associated protein (ODAM) using quantitative real-time reverse transcription-polymerase chain reaction.

ENAM

tumor


Input: CALM-AF10 mice infected with the MOL4070LTR retrovirus developed acute leukemia, and ligation-mediated polymerase chain reaction was used to identify retroviral insertions at 19 common insertion sites, including Zeb2, Nf1, Mn1, Evi1, Ift57, Mpl, Plag1, Kras, Erg, Vav1, and Gata1.

acute leukemia


Input: Tumour tissues were collected from patients with oesophageal (28 samples), gastric (20), pancreatic (five), bile duct (one) and prostatic (52) carcinomas as well as 30 benign tissue samples, for assessment of dermcidin mRNA levels using real-time PCR.

dermcidin

carcinomas


Input: In xenografts, there was a 4-to 5-fold delay in the generation of palpable HYAL1-AS tumors, and the weight of HYAL1-AS tumors was 9-to 17-fold less than vector and HYAL1-S tumors, respectively (P < 0. 001).

weight


Input: We compared the mRNA expression level of TRF1, TRF2, POT1, and RAP1 between tumor and adjacent normal tissues from 148 patients with non-small cell lung cancer using real-time quantitative PCR.

non-small cell lung cancer


Input: There was evidence for interaction between XRCC1 399Gln and smoking that was stronger among women than men.

smoking


Input: USP6 gene rearrangements occur preferentially in giant cell reparative granulomas of the hands and feet but not in gnathic location.

USP6 gene

granulomas


Input: Changes in genes involved in calcium homeostasis may have specific clinical importance since the second messenger Ca2 + is known to modulate various cellular processes, including cell proliferation, cell death and cell motility, which affects prostate cancer tumor progression and responsiveness to therapy.

prostate cancer


Input: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Joubert syndrome

Joubert syndrome


Input: No release of histamine and substance P in capsaicin-induced neurogenic inflammation in intact human skin in vivo: a microdialysis study.

substance P

neurogenic inflammation

substance P

neurogenic inflammation


Input: We conclude TCF7L2, a risk factor for T2D in the general population, is also a risk factor for T2D in African-American patients with SCZ or schizoaffective disorder.

schizoaffective disorder

schizoaffective disorder


Input: By direct sequencing of genomic DNA, we found two different missense mutations in the third exon of NURR1 in two schizophrenic patients and another missense mutation in the same exon in an individual with manic-depressive disorder.

manic


Input: Our results demonstrate that the HH-signaling pathway is an interesting therapeutic target for a subset of patients with CLL, characterized by high GLI1 and PTCH1 transcript levels, and all patients with trisomy 12 and indicate HH-blocking Abs to be favorable over SMO inhibitors in overcoming stroma-mediated protective effects.

SMO

trisomy 12


Input: In VAT, CIDEC/FSP27 and PLIN1 gene expression decreased with body mass index, percent fat mass, fasting glucose, fasting insulin, HOMA and were positively associated with adipogenic (PPARG, GLUT4, FASN and ACACA) and mitochondrial biogenesis (PPARGC1A, PPARGC1B, TFAM and MT-CO3)-related genes.

body mass index


Input: Accordingly, we have now scanned for HESX1 mutations in 228 patients with a broad spectrum of congenital pituitary defects, ranging in severity from isolated growth hormone deficiency to SOD with panhypopituitarism.

SOD

SOD


Input: LOX catalytic activity is significantly reduced under hypoxic conditions.

LOX

hypoxic


Input: Clinically, the levels of mdig can be applied to predict the disease progression, the first progression (FP), in non-small cell lung cancer (NSCLC) patients.

mdig

non-small cell lung cancer


Input: We show that a point mutation causing hemophilia B changes the amino acid at position-4 in the propeptide region of factor IX from an arginine to a glutamine, which results in the expression of a stable longer protein with 18 additional amino acids of the N-terminal propeptide region still attached.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Analysis of the tumour tissue revealed loss of heterozygosity at the NF1 gene locus but a normal karyotype and an absence of microsatellite instability.

NF1 gene

microsatellite instability


Input: Whereas rbc of either Kcc1 (-/-) or Kcc3 (-/-) mice were of normal density, rbc of Kcc1 (-/-) Kcc3 (-/-) mice exhibited defective volume regulation, including increased mean corpuscular volume, decreased density, and increased susceptibility to osmotic lysis.

mean corpuscular volume


Input: Comparative genomic hybridization of adenomas from Rassf1a (-/-); Apc (+/Min) mice revealed no evidence of aneuploidy or gross chromosomal instability (no difference to adenomas from Rassf1a (+/+); Apc (+/Min) mice).

aneuploidy


Input: We evaluated the effects of metformin in the liver of PON1-deficient mice which, untreated, present a mild degree of liver steatosis.

liver steatosis

liver steatosis


Input: Individuals with ADHD have significant impairment in family and peer relations, academic functioning, and show high co-morbidity with a wide range of psychiatric disorders including oppositional defiant disorder (ODD), conduct disorder (CD), anxiety disorder, depression, substance abuse, and pervasive developmental disorder (PDD).

ODD

substance abuse


Input: This analysis confirms that the NAT2 genotype is a risk factor for bladder cancer by interacting with smoking or occupational exposures.

smoking


Input: A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

patent foramen ovale


Input: To investigate the genetic alterations during transformation of ovarian endometriosis into cancer, the authors analysed mutations of tumour-related genes (PTEN and p53) in EAOC cases (n = 23, group 1), including 19 cases which were detected co-existence of endometriosis and cancer and four cases which fulfilled the histological criteria in malignant transformation of endometriosis (OCEMs), and in atypical hyperplasia ovarian endometriosis (aEMs) (n = 10, group 2), as well as in solitary ovarian endometriosis (EMs) (n = 20, group 3), simultaneously, to study the correlation of the two genes in the development and progression of the ovarian endometriosis malignancy.

PTEN

ovarian endometriosis


Input: Moreover, the pace and timing of puberty of such children is normal and no increased incidence of premature adrenarche could be discerned in ART children in the absence of restricted fetal growth.

ART

premature adrenarche


Input: This suggests that PKC-alpha is required for GRK2 and GRK3 translocation to the membrane, where GRK can inactivate ORL1 and mu opioid receptors upon rechallenge with the appropriate agonist.

translocation


Input: Our results reveal promising therapeutic potential for Bax gene silencing in Al-induced neurodegeneration.

Bax

neurodegeneration

Bax

neurodegeneration


Input: High frequency of allelic loss at the BRCA2 locus has been reported in sporadic breast tumors, but somatic mutations of BRCA2 are very rare.

sporadic


Input: In human endometrial cancer, the fourth most common cancer in women, tumor suppressor phosphatase tensin homologue (PTEN) is frequently mutated.

tensin

cancer


Input: The PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups.

aniridia

aniridia


Input: Median PFS in BRCA1, BRCA2 and sporadic patients was 2. 1 [95% confidence interval (CI) 1. 9-2. 5] years (P = 0. 006), 5. 6 (95% CI 0. 0-11. 5) years (P = 0. 008) and 1. 3 (95% CI 1. 1-1. 5) years, respectively.

sporadic


Input: Severe adverse events included grade 3 skin rash (15%), hypertension (17%), aspartate transaminase/alanine aminotransferase elevation (17%), proteinuria (7%), intracranial hemorrhage (2%), and grade 4 perforation of the digestive tract (2%).

alanine aminotransferase

proteinuria


Input: This study shows that the GST/N-terminal GPIIIa fusion proteins contain conformational epitopes that mimic those involved in alloimmunization, and that regions other than the amino terminal 66 amino acids of GPIIIa are not likely to contain or be required for the development of functional PlA1 epitopes.

GST

alloimmunization


Input: Using knock-out mice and primary brain cells, we connect a key pattern recognition receptor, Toll-like receptor 2 (TLR2), to hyperbilirubinemia-induced signaling.

hyperbilirubinemia


Input: Both drugs blocked the hypoxia-induced expression of LOX and LOXL proteins, collagen cross-linking, CD11b ⁺ BMDC recruitment, and lung metastasis in an orthotopic breast cancer model.

LOX

hypoxia


Input: Cardiac nuclear high mobility group box 1 prevents the development of cardiac hypertrophy and heart failure.

high mobility group box 1

cardiac hypertrophy


Input: This study identifies GPC5 as a new susceptibility gene for nephrotic syndrome and implicates GPC5 as a promising therapeutic target for reducing podocyte vulnerability in glomerular disease.

nephrotic syndrome

nephrotic syndrome


Input: The elevation in cytokine expression preceded the increase in matrix-metalloproteinase-9 in the infarct area as well as the increase in ANP and collagen expression in the non-infarcted myocardium.

ANP

infarct


Input: We describe an autosomal dominant inherited pedigree with ZASP-MFM that is in line with the typical phenotype of distal myopathy without cardiomyopathy and neuropathy, while mild asymmetrical muscle atrophy can be observed in some affected members.

ZASP

mild


Input: In FISH assay, 48. 9 ± 9. 7% of the cancerous cells were monoploid for p53 probe signals, 41. 0 ± 9. 5% were diploid, and 10. 2 ± 7. 8% were polyploid.

FISH

polyploid


Input: Transfection of LP 101 cells with plasmid containing a single base pair deletion from the NF-kapp B binding motif abolished the MM adhesion-induced increase in CAT activity, whereas transfection with plasmid containing three copies of synthetic NF-kappa B sequence resulted in an 8. 1 +/-0. 7-fold increase in CAT activity related to MM adhesion (n = 3, P <. 05).

CAT

adhesion


Input: Variants of GSTP1 c. 313A > G p. Ile (105) Val were at increased risk of myelosuppression (P =. 024) and cardiac damage (P =. 008).

myelosuppression


Input: Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.

keratin 1

Epidermolytic hyperkeratosis

keratin 1

Epidermolytic hyperkeratosis


Input: In induced sputum cell pellets from 37 asthmatic patients and 15 healthy control subjects, PCR was used to profile gene expression of the epithelial cell signature of IL-13 activation (periostin, CLCA1, and SERPINB2), TH2 genes (IL4, IL5, and IL13), and other genes associated with airway TH2 inflammation.

inflammation


Input: We analysed by RT-PCR the expression of mRNAs coding for the human variants of Gln transporters: ASCT2 (system ASC), SNAT1 [ATA1] (system A), SNAT3 [SN1] and SNAT5 [SN2] (system N), in samples of human malignant gliomas WHO grades III/IV (anaplastic astrocytoma and glioblastoma), glioma-derived cell cultures, brain metastases from peripheral organs, and control brain tissue.

brain metastases


Input: We screened for the CHEK2 * 1100delC variant in 419 men diagnosed with prostate cancer in southern Sweden, 145 of whom were sporadic cases that were divided into two subgroups depending on whether they were diagnosed before (n = 64) or after (n = 81) the age of 55 years.

sporadic


Input: In multivariate analysis, the presence of EGFR deletion exon 19 or L858R EGFR mutations in adenocarcinoma patients predicted longer TTF.

TTF

adenocarcinoma


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Further analyses of rhabdomyosarcoma cell lines with RT-PCR revealed that in Rh30 cells, an alveolar rhabdomyosarcoma cell line, there are three separate deletions/mutations of the ATM mRNA.

ATM

alveolar rhabdomyosarcoma


Input: FSHR inactivating mutations may cause primary or secondary amenorrhea, infertility, and premature ovarian failure (POF), whereas activating mutations can predispose to ovarian hyperstimulation syndrome (OHSS) as a consequence of exogenous FSH administration, or with a spontaneous onset.

FSHR

infertility


Input: We studied the GBE gene in patients with various presentations of GSD-IV.

GBE

GSD-IV

GBE

GSD-IV


Input: RESULTS: The expression frequencies of P-gp and LRP were significantly higher in adenocarcinomas from non-smoking patients; the expression frequency of LRP was significantly higher in cancer tissue from female patients.

P-gp

smoking


Input: Thus, isolates belonging to ET1, ET2 and ET8 were responsible for outbreaks or for sporadic infections, whereas isolates of other ETs were responsible for only sporadic infections.

infections


Input: 3' UTR MSs demonstrated MSI frequencies in MSI-H tumors higher than the 99% upper limit predicted by MS length for RB1-inducible coiled-coil 1 (RB1CC1, mutation frequency 68. 4%), NUAK family SNF1-like kinase 1 (NUAK1, 31. 0%), and Rtf1, Paf1/RNA polymerase II complex component, homolog (RTF1, 25. 0%).

tumors


Input: We report a case of severe myelofibrosis in a patient with HOA.

HOA

myelofibrosis


Input: In two patients with der (6) t (1; 6) (q21-23; p21. 3), we were able to map the precise translocation breakpoints, which involved KCNN3 and GUSBP2 in one case and HYDIN2 in another.

translocation


Input: Here we report on a female infant with a de novo balanced translocation 46, XX, t (7; 12) (p21. 2; p12. 3) and presenting at birth brachycephaly, antimongolic palpebral fissures, ocular hypertelorism, broad nose with low nasal bridge and low-set ears.

ocular hypertelorism


Input: The role of Pin1 in hepatocarcinogenesis, particularly in HBV-related HCC, was investigated.

hepatocarcinogenesis


Input: OPG released by T98G cells was biologically active in that it inhibited Apo2L/TRAIL-induced apoptosis in sensitive glioma cells.

OPG

glioma


Input: After multiple regression analysis, systolic blood pressure (SBP) and diastolic blood pressure (DBP) did not differ significantly according to their tobacco status excepted for DBP in men.

DBP

systolic blood pressure


Input: Fourteen markers were genotyped within two alcohol metabolism genes [Alcohol dehydrogenase (ADH) gene clusters (ADH1B and ADH1C) and Aldehyde dehydrogenase (ALDH2)], one microsomal ethanol oxidizing enzyme cytochrome p450 (CYP2E1) and three oxidative stress response (OSR) genes (MnSOD, GSTT1 and GSTM1) among 490 Bengali individuals (322 ALD and 168 control) from Eastern and North-Eastern India and validation was performed in a new cohort of 150 Bengali patients including 100 ALD and 50 advanced non-alcoholic steatohepatitis (NASH).

alcoholic steatohepatitis


Input: Thus, VIP appears to have an ameliorating effect on spatial cognitive deficits induced by scopolamine in the rat.

VIP

cognitive deficits

VIP

cognitive deficits


Input: Our data suggest an association between MHC class I and class II (HLA-A * 29, HLA-B * 51, HLA-DRB1 * 15, and HLA-DQB1 * 06) and susceptibility to SLE in the Saudi population.

SLE

SLE


Input: IL-4 is a key cytokine in the development of AHR and airway reconstruction in asthmatic patients and might be an important component in exacerbation of AHR during pulmonary mycoplasma infection.

AHR

mycoplasma infection


Input: Postinfarction treatment with an adenoviral vector expressing hepatocyte growth factor relieves chronic left ventricular remodeling and dysfunction in mice.

hepatocyte growth factor

ventricular remodeling


Input: Both ictal hyperhidrosis and interictal diarrhea ameliorated upon acetazolamide intake, the typical treatment for EA2.

diarrhea


Input: We investigated the association of polymorphisms in the MIF gene with bone mineral density (BMD) and bone loss in 1002 elderly women using MIF promoter polymorphisms MIF-CATT (5-8) and rs755622 (G/C) located-794 and-173 bp upstream of the transcriptional start site.

MIF

bone mineral density


Input: Mutations in TMEM231 cause Meckel-Gruber syndrome.

Meckel-Gruber syndrome

Meckel-Gruber syndrome


Input: Understanding the molecular pathways that contribute to the aggressive behavior of HER2-positive breast cancers may aid in the development of novel therapeutic interventions.

aggressive behavior


Input: Thus, biochemical screening for chromosome abnormalities may be practicable in the first trimester using free beta human chorionic gonadotrophin in combination with AFP and maternal age.

AFP

chromosome abnormalities


Input: Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).

endogenous depression

endogenous depression


Input: Our results demonstrate for the first time that 5-HT2B receptors are essential for isoproterenol-induced cardiac hypertrophy, which involves the regulation of interleukin-6, interleukin-1beta, and tumor necrosis factor-alpha cytokine production by cardiac fibroblasts.

tumor necrosis factor-alpha

cardiac hypertrophy

tumor necrosis factor-alpha

cardiac hypertrophy


Input: An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

Marfan syndrome

Marfan syndrome


Input: In brief, the c-Myc-mediated transcriptional repression of miR-15-16 in hypoxia is induced by increased HIF-2α and promoted tumor angiogenesis and hematogenous metastasis by the further loss of post-transcriptional inhibition of FGF2.

hypoxia


Input: These results suggest that Gitelman syndrome requires 2 compound heterozygotic mutations and the coexistence of the large deletion in the C-terminal domain with Met672Ile substitution of the TSC could impair the transporter activity underling the hypokalemia and hypomagnesemia in this patient.

TSC

Gitelman syndrome

TSC

Gitelman syndrome


Input: This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.

SOBP

psychosis

SOBP

psychosis


Input: ACE DD genotype is related to endothelium-dependent arterial dilation in the early stage of type 2 diabetes mellitus and in healthy individuals.

ACE

dilation


Input: It has been argued that reductions in T cell activation and/or viral fitness might result in preserved target cells and an altered relationship between the level of viremia and the rate of CD4 + T cell loss.

viremia


Input: Transcriptional induction of UGT1A1 was also observed in diabetes and starvation but not with acetone treatment, which apparently caused translational stabilization of the enzyme protein.

diabetes


Input: Astroglial cytoprotection by erythropoietin pre-conditioning: implications for ischemic and degenerative CNS disorders.

erythropoietin

CNS disorders

erythropoietin

CNS disorders


Input: Furthermore, GPER silencing in CAFs inhibited hypoxia-increased CTGF expression in CAFs and breast cancer cells cultured with CM from CAFs under hypoxic conditions.

CTGF

hypoxic


Input: To elucidate disease-associated malformations such as frequent abortions, fetal edema, cystic hygroma, or cardiac defects, we studied Chrna1, Chrnb1, Chrnd, Chrng, and Rapsn in mouse embryos and found expression in skeletal muscles but also in early somite development.

Chrng

fetal edema


Input: Naringenin ameliorates inflammation and cell proliferation in benzo (a) pyrene induced pulmonary carcinogenesis by modulating CYP1A1, NFκB and PCNA expression.

PCNA

inflammation


Input: Strikingly however, the Werner helicase (WRN), which in its mutated form causes premature aging and cancer and which was linked to the Rad51-independent single-strand annealing (SSA) DSB repair pathway, is required for SIRT1-mediated HR.

SSA

premature aging


Input: In conclusion, FLT3/ITD and MLL/ITD are mainly observed in uncharacteristic cases of t-AML with a normal karyotype and unrelated to previous therapy for which reason they could represent sporadic cases of de novoAML.

sporadic


Input: PDGFRA, PDGFRB, and EGFR were immunohistochemically, biochemically, cytogenetically, and mutationally analyzed along with the detection of their cognate ligands in 16 neurofibromatosis type 1 (NF1)-related and 11 sporadic MPNSTs.

EGFR

sporadic


Input: The expression pattern of TRAIL mRNA, however, was variable among four patients with membranous nephropathy.

TRAIL

membranous nephropathy


Input: Among the three groups, classified based on the diagnosis of periodontal diseases (healthy/gingivitis, early periodontitis and moderate/advanced periodontitis), the relative expression level of NEP mRNA was significantly increased in the early periodontitis group and in the moderate/advanced periodontitis group compared with that in the healthy/gingivitis group.

NEP

periodontitis


Input: Overexpression of beta2-microglobulin is associated with poor survival in patients with oral cavity squamous cell carcinoma and contributes to oral cancer cell migration and invasion.

oral cancer


Input: Androgen-dependent expression of the gastrin-releasing peptide receptor in human prostate tumor xenografts.

gastrin-releasing peptide receptor

prostate tumor

gastrin-releasing peptide receptor

prostate tumor


Input: A functional study has divided the PRODH missense mutations into three groups: those leading to mild, moderate, or severe reduction of POX activity.

POX

mild


Input: Although no SNP reached genome-wide significance, six achieved P-values < 1 × 10 (-5) with variants in three genes (MT1X, ATXN1 and VLDLR) implicated in disordered gambling.

gambling


Input: Here, we show that PAFR is overexpressed in non-small cell lung cancer (NSCLC) as well as in breast, colorectal, and gastric carcinomas.

PAFR

non-small cell lung cancer


Input: Despite an extensive search, no activating ACTH receptor mutations have been found in adrenal tumors, excluding the ACTH receptor as a relevant oncogene for adrenal tumorigenesis.

ACTH receptor

tumorigenesis


Input: The downregulation of Tmprss6 by inflammation in mice is not dependent on the Bmp-Smad pathway but occurs through a decrease in Stat5 phosphorylation.

inflammation


Input: Here we report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B (p. R125C).

Dravet syndrome

Dravet syndrome


Input: Our results further demonstrate a significant correlation of STAT3 mutation with pure red cell aplasia, neutropenia, hepatomegaly, β2-microglobulin and anemia.

hepatomegaly


Input: This report extends the MANDP phenotype by illustrating that AR nonsense mutations in MMP13 can lead to short stature that persists beyond childhood.

MANDP

MANDP


Input: Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

Factor IX

haemophilia B

Factor IX

haemophilia B


Input: For SLC4A1 in blacks, the G allele of rs2074107 (P =. 004; OR, 1. 56; 95% CI, 1. 15-2. 12) and the A allele of rs2857078 (P <. 001; OR, 1. 67; 95% CI, 1. 27-2. 17) were significantly associated with preeclampsia.

preeclampsia


Input: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Growth hormone concentration in urine was measured by an immunometric assay, and growth hormone receptor-gene expression was measured by RNase protection assay or by quantitative reverse transcriptase polymerase chain reaction in total RNA isolated from epidermal suction blister roofs.

growth hormone receptor

blister


Input: Because actinic keratosis showed a high DDR type of 53BP1 immunoreactivity, GIN seems to be induced at the precancerous stage.

DDR

actinic keratosis


Input: Using quantitative reverse-transcriptase polymerase chain reaction, the amount of messenger RNA for selected genes regulating contractile function (sarcoplasmic reticulum Ca2 + ATPase, alpha-and beta-myosin heavy chain [MHC] isoforms, phospholamban [PLB]), and pathologic hypertrophy (beta-MHC and atrial natriuretic peptide [ANP]) was determined from biopsy samples.

phospholamban

hypertrophy


Input: A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample.

dopamine transporter

cocaine abuse

dopamine transporter

cocaine abuse


Input: ATM is a high-molecular-weight PI3K-family kinase.

weight


Input: The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent.

CORD

CORD


Input: The results suggest that the impacts of preventive interventions in early elementary school on late adolescent outcomes of impulsivity and aggression can be potentially modified by genetic factors, such as BDNF.

BDNF

aggression


Input: Because the melanocortin-1 receptor can act as a female-specific counterpart to N-methyl-D-aspartate receptors in kappa-opioid analgesic mechanisms, the authors assessed the contribution of melanocortin-1 receptors to the sex-specific mechanisms underlying morphine hyperalgesia.

melanocortin-1 receptor

hyperalgesia

melanocortin-1 receptor

hyperalgesia


Input: Possible involvement of IMPase in complex behaviors related to affective disorders was assessed by monitoring the behavior of the IMPA2 (-/-) mice in the forced swim test, the tail suspension test (TST), the elevated zero-maze and open field test.

affective disorders

affective disorders


Input: Mobilization of xanthine oxidase from the gastrointestinal tract in acute pancreatitis.

xanthine oxidase

acute pancreatitis


Input: Consequently, TNF-alpha, through activation of p38 MAPK and IKK, produces serine phosphorylation of IR and IRS-1, impairing its tyrosine phosphorylation by insulin and the corresponding activation of phosphatidylinositol 3-kinase and Akt, leading to insulin resistance on glucose uptake and GLUT4 translocation.

TNF-alpha

translocation


Input: Furthermore, we found dysregulated expression of genes not previously associated with pancreatic adenocarcinoma, such as Rac 1, GLG1, NEDD5, RPL-13a, RPS9 and members of the Wnt5A gene family.

pancreatic adenocarcinoma


Input: The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen.

fibrinogen


Input: Our findings suggest that SP is produced in tendinosis tendons, and furthermore that SP has marked effects on the tenocytes via the NK-1 R. It cannot be excluded that the SP effects are of importance concerning the processes of reorganization and healing that occur for tendon tissue in tendinosis.

tendinosis


Input: In addition, we found the altered expression of LIM and HSPF1 both in the brains and lymphoblastoid cells in bipolar disorder.

bipolar disorder

bipolar disorder


Input: Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied.

insulin receptor

leprechaunism

insulin receptor

leprechaunism


Input: We sequenced the coding region of the L1CAM gene of patients from two different families with X-linked hydrocephalus and found a novel mutation at nucleotide residue 1963 in one family.

X-linked hydrocephalus

X-linked hydrocephalus


Input: Genetic variations of the ApoB gene may affect plasma ApoB and lipid levels, thus influencing atherogenesis.

ApoB gene

atherogenesis


Input: A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4 years of age.

GDE

recurrent hypoglycemia


Input: Effects of baicalin in CD4 + CD29 + T cell subsets of ulcerative colitis patients.

ulcerative colitis


Input: Seventeen patients in Group A and 30 patients in Group B were evaluated before starting thrombolytic treatment and 2, 6 and 24 h after its end for the following parameters: aPTT, TcT, fibrinogen, fibrinogen degradation products (FDP), plasmin-alpha 2 antiplasmin (PAP) and thrombin-antithrombin III (TAT) complexes.

antithrombin III

fibrinogen


Input: This study included patients diagnosed with acute pyelonephritis (APN) and acute lobar nephronia (ALN) who had no underlying disease or structural anomalies other than vesicoureteral reflux (VUR).

ALN

vesicoureteral reflux


Input: We compared the transcriptional regulation of the human Rex1 gene in NTera-2 (NT-2) human teratocarcinoma, normal human prostate epithelial cells (PrEC), and prostate cancer cells (PC-3) by promoter/luciferase analyses.

prostate cancer


Input: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Myosin VIIA

Usher syndrome type 1

Myosin VIIA

Usher syndrome type 1


Input: Eight network 2 genes (KIAA0101, HDAC2, SUMO1, RBBP4, NONO, RBBP7, HTRA2, and MTA2) were significantly differentially expressed in an array of 18 different sarcoma types.

NONO

sarcoma


Input: The current study aimed to determine if generalized anxiety disorder (GAD), panic disorder, phobias, major depressive disorder (MDD), anorexia nervosa (AN), or bulimia nervosa (BN) shared common genetic or environmental factors with caffeine use, caffeine tolerance, or caffeine withdrawal.

GAD

caffeine


Input: Mutations of SCN1A generate phenotypes ranging from the extremely severe form of Dravet syndrome (DS) to a mild form of generalized epilepsy with febrile seizures plus (GEFS +).

mild


Input: This study was designed to determine whether administration of granulocyte colony-stimulating factor (G-CSF) has therapeutic efficacy in animals with ALF.

granulocyte colony-stimulating factor

ALF

granulocyte colony-stimulating factor

ALF


Input: Similar conditions were also seen among men above 45 years of age with risk habits like drinking and chewing as the earlier disease onset associated with GSTP1 polymorphism and high ITC intake (p < 0. 001).

drinking


Input: Several gene polymorphisms have been reported to be associated with sporadic CAA or CAA-related hemorrhage, including apolipoprotein E (APOE), presenilin 1 (PS1), and alpha1-antichymotrypsin (ACT).

ACT

sporadic


Input: Furthermore, the G82S genotypes in the RAGE gene were associated with serum AGE (P =. 033), homeostasis model assessment for insulin resistance (HOMA-IR) (P <. 001), plasma tumor necrosis factor alpha (TNF-alpha) (P =. 033), serum C-reactive protein (CRP) (P =. 002), and urinary excretion of 8-epi-prostaglandin F (2alpha) (P =. 028) after adjusting for sex, age, body mass index, cigarette smoking, and alcohol drinking.

CRP

insulin resistance


Input: However, when corrected by body weight, EEI was higher in IGHD (p = 0. 005).

IGHD

body weight


Input: These BRCA2 families have early-onset breast cancer (mean and median age = 49 years), with four of the eight families including ovarian cancer but with no families including male breast cancer.

breast cancer

breast cancer


Input: The levels of LDL-C, ApoB and ApoA1/ApoB (ABCA-1); HDL-C, ApoA1, ApoB and ApoA1/ApoB (LIPC); TC, HDL-C, ApoA1 and ApoB (LIPG); TC, TG, HDL-C, LDL-C, ApoA1 and ApoB (MTHFR); TC, TG and ApoB (MYLIP); TG (PCSK9); TG, ApoA1 and ApoB (PPARD); and TC, HDL-C, LDL-C, ApoA1 and ApoB (SCARB1) in overweight/obese subjects were different among the genotypes (P < 0. 01-0. 001).

MYLIP

overweight


Input: Frequencies of p and x alleles in ER-α gene PvuII and XbaI polymorphisms were more prevalent among fertile men compared with infertile OAT men.

OAT

infertile


Input: APOA1 (-75)-APOC3 (SstI) haplotypes also showed significant association while APOA1 (+ 83)-APOC3 (SstI) haplotypes showed no association with gallstone disease.

gallstone disease


Input: We observed that monocyte adhesion to resting or cytokine (tumor necrosis factor-alpha or interleukin-1 alpha)-stimulated human umbilical vein endothelial cells (HUVECs) was markedly inhibited (40 to 65%) by culture (1 to 6 days) of HUVECs with aFGF or bFGF.

aFGF

adhesion


Input: Administration of puerarin also effectively rectified the coagulation disorder in asthmatic rats, such as prothrombin time (PT) (P < 0. 01), thrombin time (TT) (P < 0. 05), fibrinogen (FIB) (P < 0. 01), the activity of factor II (FII) (P < 0. 01), the activity of factor V (FV) (P < 0. 05), the activity of factor VII (FVII) (P < 0. 05), the activity of factor X (FX) (P < 0. 05), the activity of factor VIII (FVIII) (P < 0. 01), the activity of factor IX (FIX) (P < 0. 05), and the activity of factor XII (FXII) (P < 0. 05).

FVIII

fibrinogen


Input: Our results indicate that FGFR2 and FGFR3, in addition to their potential role in skeletal dysplasias, play an important role in tumorigenesis.

tumorigenesis


Input: Most end-stage renal disease kidneys display accumulation of extracellular matrix (ECM) in the renal tubular compartment (tubular interstitial fibrosis-TIF) which is strongly correlated with the future loss of renal function.

ECM

end-stage renal disease


Input: Six genes were identified as of interest for a follow-up, based on the strength of the association and based on the interest as potential candidate target for developing new treatment for depression: Solute Carrier Family 4 Member 10 (SLC4A10), Dipeptidyl Peptidase IV (DPP4), Dopamine Receptor D3 (DRD3), Zinc Finger Protein 80 (ZNF80), Nitric Oxide Synthase 2A (NOS2A) and Peroxisome Proliferator-Activated Receptor-Gamma, Coactivator 1, Alpha (PPARGC1A).

depression

depression


Input: Newly described small molecules that inhibit BET proteins BRD2, BRD3, and BRD4 reduce proliferation of NUT (nuclear protein in testis)-midline carcinoma, multiple myeloma, and leukemia cells in vitro and in vivo.

multiple myeloma


Input: TAAR 6 and HSP-70 variations associated with bipolar disorder.

TAAR 6

bipolar disorder

TAAR 6

bipolar disorder


Input: Here we investigated the molecular mechanism of USP44 silencing and whether this correlated with aneuploidy in colorectal adenomas.

aneuploidy


Input: pathological grades 2/3) showed significantly lower VEGF, HIF-1 and EGFR gene expression levels than the non-responders (patients with insignificant tumour regression, i. e.

regression


Input: Basal fasting glucose, c-reactive protein (CRP), insulin, insulin resistance (homeostasis model assessment (HOMA)), total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides concentration, and adipokines were measured.

CRP

insulin resistance


Input: Abnormalities in CRH secretion have been documented in both the depression and manic phases of bipolar disorder (BPD).

CRH

bipolar disorder

CRH

bipolar disorder


Input: Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype when combined with mutations in the gene encoding the imino acid transporter SLC6A20 (IMINO).

IG

IG


Input: We used the genotyping data of 1, 115 common single nucleotide polymorphisms (SNPs) in the 12 pathway core genes (i. e., MST1, MST2, SAV1, LATS1, LATS2, MOB1A, MOB1B, YAP1, TEAD1, TEAD2, TEAD3 and TEAD4) from the dataset of our previously published CM genome-wide association study and comprehensively analyzed their associations with CM-specific survival (CSS) in 858 CM patients by using the Kaplan-Meier analyses and Cox proportional hazards regression models.

regression


Input: These mRNAs, as well as serum SHBG, were higher when the hepatic triglyceride concentration was low, and decreased with increasing body mass index but were unrelated to age.

SHBG

body mass index


Input: Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.

NS

NS


Input: This represents strong evidence for the causative nature of the observed mutation for LCAT deficiency in affected individuals and supports the conclusion that Arg140 is crucial for the structure of an enzymatically active LCAT protein.

LCAT

LCAT deficiency

LCAT

LCAT deficiency


Input: miR-21 may have an influence on cell cycle, DNA damage repair, apoptosis, autophagy, and hypoxia of cancer during irradiation.

hypoxia


Input: This study was performed to investigate the alterations of platelet functions and whether iron deficiency results in diminished expression of activation marker (P-selectin; CD62P) leading to platelet aggregation dysfunction in children with IDA.

iron deficiency


Input: Bone marrow cells from 121 consecutive patients with multiple myeloma were analyzed cytogenetically by standard banding techniques including RHG, GTG and CBG banding.

CBG

multiple myeloma


Input: Human ITFgamma-treated fibroblasts as well as non-neoplastic cervical tissues responded to C. trachomatis with a strong down-regulation of caveolin-1 mRNA and a light up-regulation of C-myc mRNA.

C-myc

non-neoplastic


Input: Consistent with these data, PKCalpha along with the PKC binding protein RACK1 are immunoprecipitated with wild-type P0, and inhibition of PKC activity abolishes P0-mediated adhesion.

adhesion


Input: We identified mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome.

PIGT

intellectual disability


Input: Nisin, an apoptogenic bacteriocin and food preservative, attenuates HNSCC tumorigenesis via CHAC1.

tumorigenesis


Input: The colon cancer with the CASP10 missense mutation harboured additional CASP gene mutations (CASP3, 7 and 8).

CASP

colon cancer


Input: Our study initially confirmed DYX1C1, a dyslexia related protein, could interact with Hsp70 and Hsp90 via GST pull-down and a yeast two-hybrid system.

GST

dyslexia


Input: We believe that patients with HGF should be monitored carefully for a prolonged period for growth as well as other endocrine abnormalities.

HGF

abnormalities


Input: We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other abnormalities.

KRAS gene

heart defects


Input: In both schizophrenia and bipolar disorder, NTNG2 mRNA was reduced in CA3, with reductions also found in CA4 and perirhinal cortex in bipolar disorder.

schizophrenia


Input: We investigated a series of 21 sporadic paraffin-embedded hepatoblastoma cases for mutations in the p53 (exons 5-8) and beta-catenin (exon 3) genes, loss of heterozygosity at APC, microsatellite instability and immunohistochemical expression of beta-catenin and of the two main mismatch repair proteins, MLH1 and MSH2.

sporadic


Input: By multiple regression analysis, family history, smoking, diabetes, and hypertension were independent risk factors of premature CAD, but not IL-6 genotype.

smoking


Input: Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.


Input: To our knowledge, this is the first report of a EWSR1-ERG fusion in an ES tumor with an apparently duplicated 5' portion of EWSR1, and with a complex translocation involving chromosomes 1, 7, and 21.

translocation


Input: The melastatin-like transient receptor potential M2 (TRPM2) channel is a Ca2 + permeable channel that is activated by reactive oxygen species (ROS), and its activation induces necrotic cell death.

necrotic cell death


Input: Moreover, we identified that miR-203 may suppress the tumorigenesis at least in part through negatively regulating its target gene ABL1.

tumorigenesis

tumorigenesis


Input: To study such patterns in Barrett' s metaplasia and squamous cell carcinoma of the oesophagus (SCC), the distribution of MUC1, MUC2, MUC5AC and the three TFF peptides (TFF1, TFF2 and TFF3) was investigated.

squamous cell carcinoma


Input: A SNP in FGG rs2066865 (OR 2. 19, p = 0. 003) demonstrated association with arterial thrombosis risk in Hispanics.

FGG

arterial thrombosis


Input: These results provide evidence that selective inhibition of HDAC1 and HDAC2 in brain may provide an epigenetic-based target for developing improved treatments for mood disorders and other brain disorders with altered chromatin-mediated neuroplasticity.

mood disorders

mood disorders


Input: A subtle t (3; 8) results in plausible juxtaposition of MYC and BCL6 in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.

telangiectasia


Input: Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.

stratifin

keloid

stratifin

keloid


Input: There was a significant interaction between NAT2 genotype and pack-years of smoking among cases, so that the rapid genotype was associated with high MF among ever-smoking cases diagnosed at higher pack-years, whereas the slow genotype was associated with high MF at lower pack-years.

smoking


Input: Subtype-specific addiction of the activated B-cell subset of diffuse large B-cell lymphoma to FOXP1.

addiction


Input: The mRNA levels of PPFIBP2 and ESR2 are differentially expressed in prostate tumours and paired normal tissues.

prostate tumours

prostate tumours


Input: At difference from previous papers reporting GHRHR mutations in familial cases with a clear recessive mode of inheritance, our study was conducted on a large sample of sporadic patients and allowed to discover a novel mechanism of the disease caused by a recurrent dominant mutation in the GHRHR signal peptide associated with incomplete penetrance.

GHRHR

sporadic


Input: PURPOSE: To evaluate the changes of oxidative DNA damage (in the form of 8-OHdG) and three key DNA base-excision repair (BER) proteins, human 8-oxoguanine DNA glycosylase 1 (hOGG1), apurinic/apyrimidinic endonuclease 1 (APE1) and DNA polymerase β (Pol β), in lens epithelium cells (LECs), cortex and nucleus of lenses with age-related cataract (ARC) and age-matched controls.

DNA polymerase β

age-related cataract


Input: To determine whether genomic profiles similarly discriminate among BRCA1, BRCA2, and sporadic tumors, we established DNA copy number profiles using comparative genomic hybridization to BAC-clone microarrays providing < 1 Mb resolution.

sporadic


Input: To investigate DNMT1, DNMT3a and DNMT3b enzymes in oral squamous cell carcinoma (SCC) and leukoplakia, and their relationship with histopathologic/clinical parameters.

leukoplakia


Input: Key upstream regulators activated by metronomic cyclophosphamide include members of the interferon, toll-like receptor, inflammatory response, and PPAR signaling pathways, whose activation may contribute to anti-tumor immunity.

PPAR

tumor immunity


Input: Our aim was to evaluate the prognostic effect of peripheral blood lymphocyte subgroup CD4 + and CD8 + cells on renal transplant patients with cytomegalovirus (CMV) viremia.

viremia


Input: We analyzed the GNPTAB gene in 25 ML II and 15 ML III Japanese patients.

GNPTAB

ML III

GNPTAB

ML III


Input: body mass index (BMI); fat mass (FAT); percentage body fat (% FAT); fat-free mass (FATFR); sum of eight skinfolds (SF8); subcutaneous (ASF), visceral (AVF) and total (ATF) abdominal fat areas assessed by CT scan; plasma FFA concentrations measured at rest (FFAR), at a power output of 50 W (FFA50) and at a relative power output of 60% of VO (2max) (FFA60%); and fasting insulin (INS).

INS

body mass index


Input: The overall expression of PDX-1, SHH, Ptc and Gli-1 was low, but showed a distinctive and topographic linkage inside pancreatic carcinomas as well as inside PanINs.

carcinomas


Input: Results showed RhoE was significantly down-regulated in three gastric cancer cell lines.

RhoE

gastric cancer


Input: The results demonstrated that SAC dose-dependently inhibited the growth of oral cancer in tumour-bearing mice.

SAC

oral cancer


Input: These findings implicate MORs in ischemia-induced death of CA1 pyramidal neurons and document epigenetic remodeling of expression of OPRM1 in CA1 inhibitory interneurons.

ischemia


Input: We examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of the RET, GDNF, EDNRB, and EDN3 genes.

sporadic


Input: Deficient beta-arrestin-2-CRF (1) receptor interactions could contribute to the pathophysiology of affective disorders by inducing excessive CRF (1) receptor signaling.

affective disorders

affective disorders


Input: In primary prostate cancer and bone metastasis, PAR-1 is upregulated in reactive stroma and PAR-2 is uniformly overexpressed in carcinoma cells, suggesting these receptors may play potentially different roles in prostate cancer development and metastasis.

PAR

bone metastasis


Input: We examined whether polymorphisms in ORMDL3 and the adjacent gasdermin-like (GSDML) gene associated with asthma in the genome-wide association study are related to childhood asthma and atopy in a Mexico City population.

GSDML

atopy


Input: Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration.

MIM

dehydration


Input: Collectively, these results demonstrate, for the first time, a novel role for Nrf2 in regulating hyperoxia-induced Nox4 transcription via AREs in lung endothelium.

hyperoxia


Input: Mutations in the MMAC/PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene are documented in cancers of the breast, prostate, ovary, colon, melanoma, glioblastoma, lymphoma and endometrium.

tensin

cancers


Input: The exact mechanism of neoplastic transformation from CD30 (lo) expressing phenotype to CD30 (hi) expressing neoplastic phenotype is unknown.

neoplastic transformation


Input: High expression of WNT7A and FGF1 are correlated in ovarian carcinomas and poor overall patient survival.

ovarian carcinomas

ovarian carcinomas


Input: Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines.

neurofibromatosis 1 gene

sporadic


Input: Patients with acute viral infections such as infectious mononucleosis caused by Epstein-Barr virus infections or chickenpox, resulting from varicella zoster virus infection, had circulating populations of activated CD45RO + T cells which also showed low bcl-2 expression.

varicella zoster virus infection


Input: While 71. 4% of advanced breast cancers were positive for SNCG expression, only 26. 8% of Stage I/II breast cancers were positive for SNCG expression and 5. 2% of benign hyperplasia expressed SNCG.

SNCG

hyperplasia


Input: PAD4 translocation into the nucleus was attributable to elevated tumor necrosis factor-alpha (TNF-alpha) protein.

TNF-alpha

translocation


Input: AIM: The objective of this study was to investigate the association between VEGF + 936 C/T gene polymorphism and glioma risk in a Chinese Han population.

T gene

glioma


Input: The results showed that EA (2 Hz) can significantly reduce mechanical and thermal hypersensitivity following lumbar L5 SNL in rats.

SNL

hypersensitivity


Input: The established assay has proved able to detect the underlying UROD mutation in 10 previously characterized DNA samples as well as a new mutation in each of six previously unexamined PCT patients.

UROD

PCT

UROD

PCT


Input: Both patients had resistant hyperchylomicronemia, low LPL activity, and history of acute pancreatitis.

LPL

acute pancreatitis


Input: The TPI of the carcinomatous regions ranged from 0. 20 to 0. 63 (mean, 0. 44) and from 0. 55 to 0. 85 for the sarcoma-like areas (mean, 0. 68) P <. 0001.

TPI

sarcoma


Input: In the second mixed germ cell tumour, the NSTGCT component was methylated for RASSF1A and MGMT, while the seminoma component was methylated only for RASSF1A.

MGMT

mixed germ cell tumour


Input: The recurrent t (12; 22) (q13; q12) chromosomal translocation associated with soft tissue clear cell sarcoma results in a chimeric protein EWS-ATF-1 that acts as a constitutive transcriptional activator.

EWS

chromosomal translocation


Input: A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s.

PLP

gait disorder


Input: Linkage analysis in the family identified a region in 2p15-p16 which cosegregated with dyslexia.

dyslexia


Input: Peripheral blood DNA methylation detected in the BRCA1 or BRCA2 promoter for sporadic ovarian cancer patients and controls.

sporadic


Input: Knockdown of endogenous NTN-1 increased expression of pro-inflammatory mediators and MPO, and aggravated neuroinflammation and brain edema.

brain edema

brain edema


Input: Our data expand the genetic basis of CSNB and highlight the indispensible function of SLC24A1 in retinal function and/or maintenance in humans.

CSNB

CSNB


Input: In a conditional logistic regression analysis including age, gestational age, serum creatinine, MMA, cystathionine, body mass index (BMI), cigarette smoking, alcohol ingestion and use of multivitamins the risk of abortion was significantly associated with MMA (OR [95% CI] = 3. 80 [1. 36, 10. 62] per quartile increase in MMA), BMI (OR [95% CI] = 5. 49 [1. 29, 23. 39] per quartile) and gestational age (OR [95% CI] = 0. 10 [0. 01, 0. 77] per increase of interval in gestational age).

MMA

body mass index


Input: Furthermore, the interaction between NAT2 intermediate or slow genotype and pack-years of smoking has a strong impact on urothelial cancer.

smoking


Input: This conclusion arose from the unexpected observation that the deletion of Sun1, instead of accelerating aging, actually ameliorated the progeric and dystrophic phenotypes in Lmna-deficient mice.

Lmna

aging


Input: Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibroblasts (Tgfbr2 (fspKO)) induces inflammation and significant DNA damage in the neighboring epithelia of the forestomach.

inflammation


Input: We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk.

BHMT

cancer


Input: Here, we show that murine mannose receptor (MR) bearing macrophages derived from peritoneal exudate cells (PEC) and cultured ex vivo with M-FP can, after adoptive transfer, efficiently present MUC1 to T cells, leading to the generation of high frequency of CTL and protection from tumor challenge.

peritoneal exudate


Input: BCAR4 is expressed in 27% of primary breast tumors.

breast tumors

breast tumors


Input: In the untreated amnesia control group, the scopolamine amnesia was manifested by the absence of any increase in the PAR latent time.

PAR

amnesia


Input: Group 2 consisted of 37 patients (27 female, 10 male) who received pegylated interferon alpha 2b 1. 5 microg/kg s. c. weekly plus ribavirin adjusted for patient' s weight.

interferon alpha 2b

weight


Input: High plasma CXCL10 levels are associated with HCV-genotype 1, and higher insulin resistance, fibrosis, and HIV viral load in HIV/HCV coinfected patients.

insulin resistance


Input: This suggests that the negative behavioral effects of shock are most likely related to corresponding changes in BDNF spinal levels.

BDNF

shock


Input: Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.

epsilon-sarcoglycan

M-D

epsilon-sarcoglycan

M-D


Input: Diagnosis of pancreatic insufficiency was established for a fecal E1 & lt; 200 microg/g.

pancreatic insufficiency

pancreatic insufficiency


Input: H syndrome: novel and recurrent mutations in SLC29A3.

H syndrome

H syndrome


Input: Western blot analysis indicate that neu-initiated mammary carcinomas express abundant NRL protein when compared to other mammary tumors.

NRL

carcinomas


Input: To search for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T > C; p. Leu176Pro).

mild


Input: In postmenopausal women the FTO (rs178 17449) genotype was significantly associated with systolic blood pressure (SBP) (p = 0. 024) in the dominant GG/GT vs. TT model and with diastolic blood pressure (DBP) (p = 0. 030) in the recessive GG vs. GT/TT and the additive model (p = 0. 043), respectively.

DBP

systolic blood pressure


Input: Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

progressive familial intrahepatic cholestasis

progressive familial intrahepatic cholestasis


Input: Polymorphisms were sought in the human beta-defensin genes DEFB1, DEFB4, DEFB103A, and DEFB104 in healthy individuals and cystic fibrosis (CF) patients living in various European countries.

cystic fibrosis


Input: Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia.

hypochondroplasia

hypochondroplasia


Input: We investigated 11 patients with the dyad of' paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).

SDHC

paraganglioma and gastric stromal sarcoma

SDHC

paraganglioma and gastric stromal sarcoma


Input: Features typical of CBS included early age of presentation (< 1 year) in 3 (25%), polyuria/dehydration in 4 (33%), growth retardation in 3 (25%), hypercalciuria (urinary calcium/creatinine mmol/mmoverline > 0. 55) in 4 (33%) and nephrolithiasis in 1 (8%).

CBS

dehydration


Input: Morphometric data supported the correlation between follicular hyperplasia and increased proportions of CD19 +, CD10 +, and transferrin receptor-positive cells.

follicular hyperplasia


Input: ]), and metatropic dysplasia (MIM: 156530) (also called metatropic dwarfism or parastremmatic dwarfism [MIM: 168400]).

MIM

metatropic dwarfism


Input: It is also the first report of Peters anomaly being caused by a FOXC1 mutation.

Peters anomaly

Peters anomaly


Input: Our findings are consistent with imprinting of WT1-AS in normal kidney and the relaxation of imprinting in Wilms' tumorigenesis.

tumorigenesis


Input: To explore the feasibility of HIV vertical transmission by human sperm, plasmid construction and transfection, interspecific in vitro fertilization of zona-free hamster ova by human sperm, fluorescence in situ hybridization (FISH), RT-PCR, and immunofluorescence assay (IFA) were carried out.

FISH

zona


Input: Investigation of manic and euthymic episodes identifies state-and trait-specific gene expression and STAB1 as a new candidate gene for bipolar disorder.

manic

manic


Input: Mutations to the α-TTP gene are associated with ataxia with vitamin E deficiency, a disease characterized by peripheral nerve degeneration.

α-TTP

nerve degeneration


Input: Cyclin D1 expression was higher than cyclin A, which suggests a slow progression through the G1 phase.

Cyclin D1

slow progression


Input: Two of these loci map to genes (TCF7L2 and TGFB1) with established roles in colorectal tumorigenesis.

tumorigenesis


Input: The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c. 845_846delCT mutation in the assembly factor SURF1 gene.

complex IV deficiency

complex IV deficiency


Input: We noted increased IL-6 levels in human and murine epidermolysis bullosa acquisita (EBA), a prototypic organ-specific autoimmune bullous dermatoses (AIBD) induced by autoantibodies to type VII collagen (COL7).

bullous dermatoses


Input: HLA-DQB1 * polymorphism and associations with dilated cardiomyopathy, inflammatory dilated cardiomyopathy and myocarditis.

cardiomyopathy


Input: ADAR1 expression levels and the RNA editing levels in the 3'-UTR of DHFR in breast cancer tissues were higher than those in adjacent normal tissues.

breast cancer

breast cancer


Input: A total of 224 overweight-obese subjects with CAD or metabolic disorder, subdivided into the following four categories: (1) wild type (TT-CC, n = 73); (2) only UCP3 promoter variant (TT-CT/TT, n = 90); (3) only beta3-AR variant (TA/AA-CC, n = 29); (4) both variants (TA/AA-CT/TT, n = 32).

overweight


Input: This study provides evidence that Cyr61 is sufficient to induce E2-independence and antiestrogen-resistance, and to promote invasiveness in vitro, and to induce tumorigenesis in vivo, all of which are characteristics of an aggressive breast cancer phenotype.

tumorigenesis


Input: Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

BPES

BPES


Input: In the present study, 5/6 cases in which FISH was successful had an IGH/BCL2 fusion as would result from the t (14; 18) (q32; q21) translocation commonly seen in FL of extraoral sites.

FL

FL


Input: Thus, PRRT2 mutations also cause sporadic PKD as might be expected given the variable expressivity and reduced penetrance observed in familial PKD.

sporadic


Input: However, the AF of the DRB1 * 15: 02 and DRB5 * 01: 02 was not different among SSc patients with or without clinical manifestations (pulmonary fibrosis, digital pitting scar, sclerodactyly, myositis, and sicca symptoms).

sclerodactyly


Input: We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB.

OPG

sporadic


Input: This suggests the existence of less severe forms of BCD related to relatively mild CYP4V2 mutations.

mild


Input: Instead, a second progesterone dose delays the fall of p21 and enhances the rise of p27 (Kip1), thereby intensifying the progesterone resistance in an autoinhibitory loop.

fall


Input: However, in contact activation-induced pulmonary thromboembolism by collagen/epinephrine or long-chain polyphosphate, Klkb1 (-/-) mice, unlike F12 (-/-) mice, do not have survival advantage.

pulmonary thromboembolism

pulmonary thromboembolism


Input: Loss of Pum1 caused progressive motor dysfunction and SCA1-like neurodegeneration with motor impairment, primarily by increasing Ataxin1 levels.

neurodegeneration


Input: The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG) 24 (CAA) (CAG) 9, who showed a phenotype compatible with SCA-2.

sporadic


Input: In NASH, the LOX-1 polymorphism is associated with liver disease severity and may predispose to CVD through modulation of postprandial small TRLPs and adipokine balance and to diabetes by affecting both insulin secretion and insulin sensitivity.

insulin sensitivity


Input: Patient factor VIII, von Willebrand factor, (vWF), fibrinogen, F1. 2 and D dimer were all significantly increased (p < 0. 01; antithrombin III, protein C and proteins were similar to controls.

antithrombin III

fibrinogen


Input: These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease.

FTCD

glutamate formiminotransferase deficiency

FTCD

glutamate formiminotransferase deficiency


Input: This is the first URO-D mutation to be characterized in a pedigree with familial PCT.

URO-D

PCT

URO-D

PCT


Input: TNF-alpha treatment led to a strong translocation of p65 and p50, whereas pretreatment with IL-10 followed by TNF-alpha blocked p65 translocation but did not alter the strong translocation of p50.

translocation


Input: FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37. 3 deletion syndrome.

autism

autism


Input: A fusion peptide derived from the calpain cleavage site in TRPC6 inhibited degradation of TRPC6, reduced infarct size, and improved behavioral performance measures via the cAMP response element-binding protein (CREB) signaling pathway.

infarct


Input: Whole-tissue sections of 309 tumors were evaluated: 49 LGFMSs (all with FUS gene rearrangement confirmed by fluorescence in situ hybridization), 40 soft tissue perineuriomas, 40 myxofibrosarcomas, 20 cellular myxomas, 20 solitary fibrous tumors, 20 low-grade malignant peripheral nerve sheath tumors, 20 cases of desmoid fibromatosis, 20 neurofibromas, 20 schwannomas, 20 monophasic synovial sarcomas, 20 cases of dermatofibrosarcoma protuberans, 10 myxoid liposarcomas, and 10 extraskeletal myxoid chondrosarcomas.

FUS gene

desmoid fibromatosis


Input: More recently, we found heterozygous COL6A1 glycine substitutions in patients with UCMD with SSCD.

UCMD

UCMD


Input: A polymorphism in the promoter region of the UDP-glucuronosyltransferase 1 (UGT1A) gene is associated with Gilbert syndrome (GS), a benign form of mild unconjugated hyperbilirubinemia.

mild


Input: Components of both PcG protein complexes PRC2 (EZH2, EED, YY1) and PRC1 (BMI1, RING1, HPH1, HPC1, HPC2) were immunohistochemically identified in tissue microarrays of 114 prostate cancer patients.

EED

prostate cancer


Input: Increased expression of ICAM-1 and VCAM-1 in the lung of nitrofen-induced congenital diaphragmatic hernia in rats.

diaphragmatic hernia

diaphragmatic hernia


Input: We used complementary DNA (cDNA) microarrays to compare gene expression patterns in ovarian cancers associated with BRCA1 or BRCA2 mutations with gene expression patterns in sporadic epithelial ovarian cancers and to identify patterns common to both hereditary and sporadic tumors.

sporadic


Input: The GSTA1 homozygous wild-type genotype was significantly more often present in patients with gastric cancer compared with controls (odds ratio 4. 3, 95% CI 1. 2-17), which was even more apparent after adjustment for age, gender, current smoking, current alcohol consumption, and polymorphisms in GSTP1, GSTT1, or GSTM1 (odds ratio 5. 0, 95% CI 1. 2-25).

alcohol consumption


Input: The finding implies the abnormal variant of COMT and ARVCF may account for the pathogenesis of HSCR.

COMT

HSCR

COMT

HSCR


Input: Importantly, we show that the development of a subset of sporadic tumours is similar to that of either familial BRCA1-or BRCA2 tumours.

sporadic


Input: Moreover, in these patients, only Plin2 was associated with the decrease of muscle strength and the expression of factors related to muscle atrophy (MuRF1, Atrogin and p53).

muscle atrophy


Input: It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination.

sporadic


Input: Our data identified TMTC3 as a synaptic protein that is involved in PVNH with ID and epilepsy, in addition to its previously described association with cobblestone lissencephaly.

PVNH

PVNH


Input: Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.

VHL

erythrocytosis

VHL

erythrocytosis


Input: We analyzed the US Cystic Fibrosis Foundation Patient Registry data using Cox regression to examine the relationship between sweat chloride concentration (< 60, 60-< 80, ≥ 80mmol/L), CFTR genotype (high and lower risk for lung function decline), and survival and mixed linear regression to examine the relationship between sweat chloride, CFTR genotype, and measures of lung function and growth.

CFTR

regression


Input: We found low baseline levels of a 4. 5-kb PRAD1 transcript in a series of control cell lines, which were derived from normal fibroblasts, various hematologic malignancies, and a choriocarcinoma.

choriocarcinoma


Input: Case-control association study of 14 variants of CREB1, CREBBP and CREM on diagnosis and treatment outcome in major depressive disorder and bipolar disorder.

bipolar disorder

bipolar disorder


Input: MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

chromosomal instability


Input: In light of the variability in the clinical spectrum of X-linked hypophosphatemic rickets and the presence of a PHEX mutation in affected members of this kindred, we conclude that there is only one form of X-linked dominant phosphate wasting.

PHEX

X-linked hypophosphatemic rickets

PHEX

X-linked hypophosphatemic rickets


Input: Overall these findings demonstrate silibinin was able to reverse EMT to suppress the invasive property of metastatic prostate cancer cells at the transcriptional level.

EMT

metastatic prostate cancer


Input: Surprisingly, activation of EGFRWT with EGF results in a negative regulation of EGFRvIII, with dissociation of the EGFRvIII-RIP1 signalosome, loss of RIP1 ubiquitination and NF-κB activation, and association of RIP1 with FADD and caspase-8.

FADD

dissociation


Input: Dominant negative AT2 receptor oligomers induce G-protein arrest and symptoms of neurodegeneration.

neurodegeneration


Input: ACTH-induced cortisol release is related to the copy number of the C4B gene encoding the fourth component of complement in patients with non-functional adrenal incidentaloma.

C4B gene

adrenal incidentaloma


Input: In conclusion, the Xpa gene and the NER pathway are involved in repair of bulky PhIP-DNA adducts in the intestines and the liver, and most probably of DNA lesions leading to spontaneous intestinal tumors.

Xpa

intestinal tumors

Xpa

intestinal tumors


Input: In this study, we performed bioinformatics analysis in two datasets of pancreatic ductal adenocarcinoma, which causes cancer cachexia and muscle wasting with the highest prevalence, and uncovered that IGFBP3, which encodes IGF-binding protein-3 (IGFBP-3), is dramatically up-regulated in pancreatic tumor samples.

cachexia


Input: Soluble endothelial protein C receptor (sEPCR) is likely a biomarker of cancer-associated hypercoagulability in human hematologic malignancies.

endothelial protein C receptor

hematologic malignancies


Input: Associations of APOE gene polymorphisms with bone mineral density and fracture risk: a meta-analysis.

APOE gene

bone mineral density


Input: Several further manifestations are associated with B19 infections, such as arthralgias, arthritis, leucopenia and thrombocytopenia, anaemia and vasculitis and spontaneous abortion and hydrops fetalis in pregnant women.

vasculitis


Input: As a consequence of PPAR-gamma activation, pulmonary leukostasis was decreased and oxygenation and overall survival were improved.

PPAR-gamma

leukostasis

PPAR-gamma

leukostasis


Input: This study demonstrates that the NCX is an important mechanism for cell death in myocardial ischemia and reperfusion in rats.

NCX

myocardial ischemia


Input: These data suggest that CEA, in some systems, can interfere with intercellular adhesion and, at least for cells not metastatic to the liver, can act as an anti-metastatic molecule.

CEA

adhesion


Input: Tissue remodeling changes in both species included increases in the TIMP proteins, inhibitors of matrix degradation, the gene/protein of IL-4 linked with cardiac fibrosis, and the gene Ccl7 a chemokine that induces collagen synthesis, and Reg3b a growth factor for cardiac repair.

fibrosis

fibrosis


Input: At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.

tonic-clonic convulsions

tonic-clonic convulsions


Input: Within cerebellar-plus syndromes, VEP, BAEP and SEP abnormalities were more frequent in inherited cases (ADCA I and II, along with autosomal recessive LOCA) than in sporadic ones.

SEP

sporadic


Input: However, in ARF rats, ALR expression increased significantly in both the renal cortex and medulla.

ALR

ARF

ALR

ARF


Input: Defective aldosterone receptor binding is present in familial as well as sporadic cases and it has been suggested that the pathogenesis is due to a defect in the aldosterone receptor system.

aldosterone receptor

sporadic


Input: The angiogenic response in aged rats was further diminished by the persistent upregulation of " inflammatory " genes (Cxcl12, Mmp8, Mmp12, Mmp14, Mpeg1, Tnfrsf1a, Tnfrsf1b) and vigorous expression of genes required for the buildup of the fibrotic scar (Cthrc1, Il6ra, Il13ar1, Il18, Mmp2, Rassf4, Tgfb1, Tgfbr2, Timp1).

scar


Input: We studied a series of 120 sporadic breast carcinomas using microsatellite markers to identify LOH of BRCA1, BRCA2, p53 and PTEN.

sporadic


Input: Autocrine production of interleukin-8 confers cisplatin and paclitaxel resistance in ovarian cancer cells.

ovarian cancer

ovarian cancer


Input: The immunophenotypic profiles of UCP-L were confirmed to correspond to the presumptive lymphoma cell population by use of a live gating procedure on the large cells, which eliminated interference by reactive cells or necrotic tissue fragments.

UCP

necrotic


Input: TDI-induced asthma is an inflammatory disease of the airways that is associated with airway remodeling.

TDI

inflammatory disease


Input: Promoter specific DNA methylation of the POMC gene and expression of POMC mRNA variants were determined in peripheral blood mononuclear cells (PBMC) of 30 healthy control women (HCW), 31 underweight (acAN) and 30 weight-recovered patients with AN (recAN).

POMC

underweight


Input: Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF.

chromosomal instability


Input: Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T2 signal abnormalities and diffusion restriction in the posterior limb of the internal capsule, often also optic radiation, brainstem tracts, and cerebellar white matter, in combination with delayed myelination and progressive brain atrophy.

MRI

delayed myelination


Input: OTX2 mutations contribute to the otocephaly-dysgnathia complex.

dysgnathia complex

dysgnathia complex


Input: These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.

sporadic


Input: Therefore, it is of clinical interest to investigate whether AS against Glut5 mRNA can tackle breast cancer.

breast cancer

breast cancer


Input: Alpha-betaTCR +, CD4 and CD8 + T cells are involved in different drug hypersensitivity reactions.

hypersensitivity reactions


Input: In the CHE2 C5-obese group, significant regression coefficients were found between BChE activity variables and BMI (+), ethnic origin (higher in Euro-Brazilians), sex (higher in males), diastolic pressure (-), triceps skinfold (+), total cholesterol (+), T (3) (+) and E (2) (-).

BChE

diastolic pressure


Input: The aim of the present study was to examine possible association of GSTM1 and GSTT1 gene deletion polymorphisms, alone or in combination, with bone mineral density at femoral neck (BMD_fn), lumbar spine (BMD_ls) and total hip (BMD_th) in Slovenian elderly women and men. GSTM1 and GSTT1 gene deletion polymorphisms in 712 elderly people were analyzed using the triplex PCR method for the presence of GSTM1 and GSTT1 gene segments.

bone mineral density


Input: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: The ASC-MDA7 only reduced tumor growth in the TRAMP-C2-Ras (TC2Ras) prostate cancer model.

prostate cancer

prostate cancer


Input: We analyzed promoter methylation of RASSF1A, CTNNB1, CDH1, LAMB3, LAMC2, RUNX3, NORE1A, and CAV1 using methylation-specific PCR in 33 cases of small bowel carcinoid with both matched primary and metastatic tumors.

carcinoid


Input: P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

FUS

juvenile amyotrophic lateral sclerosis

FUS

juvenile amyotrophic lateral sclerosis


Input: Therefore, aggressiveness of MLH1-positive CRC might be related to SPTAN1.

aggressiveness


Input: The proportion of rearranged chromosomes was lower in T-ALL than in other forms of T-cell leukaemia and it was lower in cases with the CD4-/CD8 + phenotype than in those with a CD4 +/CD8-phenotype.

leukaemia


Input: We genotyped 23 single nucleotide polymorphisms (SNPs) in the PDYN and OPRK1 genes in 816 alcohol-dependent subjects and investigated their association with: (1) negative craving measured by a subscale of the Inventory of Drug Taking Situations; (2) a self-reported history of depression; (3) the intensity of depressive symptoms measured by the Beck Depression Inventory-II.

Depression

Depression


Input: The AR expression was significantly more prevalent, however, in a series of 61 sporadic breast tumors (80%) and in BRCA2-mutated tumors (50%).

sporadic


Input: Tetramer analysis showed that emergence of LRH-1-specific CD8 + cytotoxic T cells in peripheral blood and bone marrow correlated with complete remission of chronic myeloid leukemia.

chronic myeloid leukemia


Input: Using a sigmoidoscopy-based case-control study (753 cases, 799 controls) in Los Angeles County, we investigated the potential modifier role in the effect of alcohol and smoking of single-nucleotide polymorphisms (SNP) in three DNA repair genes, XRCC1 (Arg194Trp and Arg399Gln), XRCC3 (Thr241Met), and XPD (Lys751Gln).

smoking


Input: The FSHR gene variations Asn680Ser as well as Ile160Thr may be contributing factors in unexplained sterility.

FSHR gene

sterility


Input: While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic intractable childhood localization-related epilepsy, remains unique.

sporadic


Input: PCDH19 mutations might account for 5 & #65397; of overall DS cases.

DS

DS


Input: Several hypotheses have been proposed to explain the etiology of this constitution: translocation of the testis-determining factor (TDF) from the Y to the X chromosome, mutation in an autosomal or X chromosomal gene which permits testicular determination in the absence of TDF, and undetected mosaicism with a Y-bearing cell line.

TDF

translocation


Input: ), given prior to the start of CIP, increased PGE2 generation in the pancreas (by 45%), reversed the histological manifestations of pancreatitis, reduced the rise in amylase blood level and improved PBF.

PBF

pancreatitis


Input: We determined levels of protein C, protein S, factor VIII, and fibrinogen and tested for the factor V Leiden and prothrombin G20210A mutations.

factor VIII

fibrinogen


Input: Oral submucous fibrosis (OSF) is a precancerous condition of oral mucosa with inflammation and progressive fibrosis of the lamina propria and deeper connective tissue.

OSF

fibrosis


Input: Positively selected CD4 + and CD8 + peripheral blood T cells were isolated from subjects with active ulcerative colitis, Crohn' s disease, and diverticulitis and from normal controls.

ulcerative colitis


Input: We aimed to determine the NO content in the cerebrospinal fluid (CSF) and the expression of NO synthase (NOS) isoforms, that is, NOS1, NOS2, and NOS3 in the ACC in depression.

depression

depression


Input: Our findings indicate that elafin and SLPI may be gene therapy targets for the treatment of atheroma.

elafin

atheroma


Input: Many polymorphisms in genes, such as ELAC2 (locus HPC2), RNase L (locus hereditary prostate cancer 1 gene [HPC1]), and MSR1 have been recognized as important genetic factors that confer an increased risk of developing prostate cancer in many populations.

RNase L

hereditary prostate cancer

RNase L

hereditary prostate cancer


Input: We have identified a second Ewing' s sarcoma translocation, t (21; 22) (q22; q12), that fuses EWS to a different ETS family member, the ERG gene located on band 21q22.

EWS

translocation


Input: Postprandial LDL-conjugated diene response predicted severe necroinflammation (OR: 3. 3; CI 1. 4-9. 7; P = 0. 016) and fibrosis (OR: 2. 8; CI 1. 0-8, 5; P = 0. 030); postprandial apoA1 fall predicts severe fibrosis (OR: 2. 1; CI: 1. 5-6. 1; P = 0. 015).

fibrosis


Input: Here we analyzed isolates of S. mutans (n = 70 isolates) from caries and caries-free human extremes (n = 19 subjects) by multilocus sequence typing (MLST), AgI/II full-length gene sequencing, and adhesion to parotid saliva matched from the strain donors (nested from a case-control sample of defined gp340 and acidic proline-rich protein [PRP] profiles).

adhesion


Input: A subset of genes including EVL, GATAs (4 and 5), HIN-1, SFRPs (1, 2, 4 and 5), SOX17 and SYNE1 were methylated frequently in all premalignant gastrointestinal adenomas including tubular adenomas, villous adenomas, SSAs and SSAs with dysplasia but infrequently in non-premalignant polyps such as HPPs.

EVL

polyps


Input: T-helper type 2 (Th2) inflammation, mediated by IL-4, IL-5, and IL-13, is considered the central molecular mechanism underlying asthma, and Th2 cytokines are emerging therapeutic targets.

inflammation


Input: GH prevents neuronal death through its actions on neurons involving a p53-mediated pathway and also improved in vivo neurological function, indicating that GH may have a role in the treatment of HIV-induced neurodegeneration.

neurodegeneration


Input: P300 amplitude in childhood predicts substance use disorders by young adulthood.

substance use disorders


Input: These findings suggest that Prx-1 may become a novel target of drugs and vaccines for schistosomiasis.

schistosomiasis

schistosomiasis


Input: Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8). 3.

bradykinin

hyperalgesia

bradykinin

hyperalgesia


Input: Incubation with interleukin-2 further increased the cytotoxic activity against EpCAM-positive ovarian cancer cell lines.

EpCAM

ovarian cancer

EpCAM

ovarian cancer


Input: We observed that xenogenic MSC selectively migrated to the tumor site, proliferated and expressed the exogenous gene in subcutaneous fibrosarcoma transplants.

MSC

fibrosarcoma


Input: The expression levels of hsa-miR-29c and hsa-miR-135b in normal gastric mucosa, non-atrophic chronic gastritis, intestinal metaplasia and intestinal-type gastric adenocarcinoma were analysed using quantitative real-time PCR.

chronic gastritis


Input: However, in spite of detectable CD4 T cell responses in vitro and in vivo, no effective anti-leukemia immunity was established.

leukemia


Input: Stimulation of Notch causes cleavage followed by translocation of the intracellular domain (NotchIC) to the nucleus, where it activates transcription of CBF1 responsive genes.

translocation


Input: Tumor-specific alterations at the p53 gene locus in 30 human vestibular schwannomas (VS) comprising 10 confirmed NF2 cases and 20 sporadic cases were analyzed.

p53 gene

sporadic


Input: Protein deficiency in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation.

glutathione reductase

Protein deficiency

glutathione reductase

Protein deficiency


Input: Inhibition of NFAT signalling, by shifting the AIF-1/IRT-1 ratio, may be an attractive target to regulate the VSMC response to injury and manipulate plaque stability in atherosclerosis.

plaque


Input: Substance P and capsaicin-induced mechanical hyperalgesia in the rat knee joint; the involvement of bradykinin B1 and B2 receptors.

Substance P

mechanical hyperalgesia

Substance P

mechanical hyperalgesia


Input: The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity: etiologies for sporadic miscarriage.

factor VIII

miscarriage


Input: Our findings indicate a potentially novel strategy for the treatment of colon cancer, one that targets CK2 simultaneous with TNF-alpha administration.

TNF-alpha

colon cancer

TNF-alpha

colon cancer


Input: Allelic loss at the TRIM37 locus (17q22-23) was observed in 6% of sporadic fibrothecomas.

sporadic


Input: Following this insult, we observed a loss of 90% of the CA1 neurons by 72 h post-ischemia.

ischemia


Input: Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.

CARS

alcohol dependence

CARS

alcohol dependence


Input: Thus, our results suggest that NFATc3 is a downstream target of the CXCL13/CXCR5 axis to stimulate RANKL expression in OSCC cells and implicates CXCL13 as a potential therapeutic target to prevent OSCC bone invasion/osteolysis.

osteolysis


Input: Marginal hypertensives, both Black and White, had greater systolic blood pressure (SBP) levels (p less than 0. 001) and greater diastolic blood pressure (DBP) levels (p less than 0. 01) in response to stress.

DBP

systolic blood pressure


Input: rs900400 near LEKR1 and CCNL1 (P = 2 x 10 (-35)) and rs9883204 in ADCY5 (P = 7 x 10 (-15)) were robustly associated with birth weight.

birth weight


Input: Thrombospondin1 (THBS1), cystene-rich protein 61 (Cyr61) and connective tissue growth factor (CTGF) are all involved in the transforming growth factor-beta (TGF-beta) signal pathway, which plays an important role in the tumorigenesis.

tumorigenesis


Input: Whether MC4R mutations are involved in the pathogenesis of binge eating disorder needs additional investigation.

binge eating disorder


Input: No other amygdala nuclei studied showed any significant differences for the prodynorphin mRNA levels measured in the major depression and bipolar disorder subjects.

prodynorphin

major depression

prodynorphin

major depression


Input: Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (p. Gly189Arg) near the active site of NFU1, an Fe/S scaffold protein.


Input: This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia.

spastic paraplegia

spastic paraplegia


Input: Sorafenib is a multi-kinase inhibitor that has been proven effective for the treatment of unresectable hepatocellular carcinoma (HCC).

HCC

unresectable hepatocellular carcinoma


Input: This study suggests that the-443C > T gene polymorphisms may be used as a molecular marker for glioma occurrence and clinical outcome in glioma patients.

T gene

glioma


Input: We have analyzed the entire coding region of the NF2 gene in 70 sporadic meningiomas and identified 43 mutations in 41 patients.

NF2 gene

sporadic


Input: Reduced TRPC7 gene expression may be a trait associated with pathophysiological disturbances of Ca (2 +) homeostasis in a subgroup of BD-I patients.

BD

BD


Input: Immunohistochemical analysis of the constituent granuloma cells using cell type-specific monoclonal antibodies revealed rapid accumulation of blood monocytes, with subsequent differentiation to macrophages, in CCR2 +/+ mice during days 2-10.

granuloma


Input: Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures.

ACTH

tonic seizures

ACTH

tonic seizures


Input: Our data provide evidence for a role of PGC-1α in mitochondrial dysfunction both in the ALS mouse model and in human sporadic ALS that is probably most relevant in the skeletal muscle.

sporadic


Input: DNMT1 was expressed at higher levels in both the peritumoral stroma and tumor in inflammatory bowel disease-associated cancers compared with sporadic colon cancers.

sporadic


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

ADC

ADC


Input: Genetic risk for acute pancreatitis (AP), recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) are increasingly recognized.

RAP

recurrent acute pancreatitis


Input: Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune diseases.

LYST

secondary


Input: Primary sporadic breast tumours were analysed for BRCA1alpha promoter methylation by methylation specific PCR and for allelic imbalance (AI) at BRCA1 and BRCA2 loci by microsatellite analysis and TP53 (also known as p53) mutations by constant denaturing gel electrophoresis.

sporadic


Input: In cultured human endothelial cells, the overexpression of FAM5C increased the reactive oxygen species (ROS) production, nuclear factor-κB (NF-κB) activity and the expression of ICAM-1, VCAM-1 and E-selectin mRNAs, resulting in enhanced monocyte adhesion.

NF-κB

adhesion


Input: We also found that knockdown of G3BP suppressed the adhesion, while its overexpression increased the adhesion.

adhesion


Input: There were common downstream abnormalities in the execution phase of PCD, as both agonists failed to cleave PARP, or to induce nucleosomal fragmentation.

PARP

abnormalities


Input: The disparate up-regulation of several genes in adult T-cell leukemia (ATL) versus HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP), seropositive carriers (SPC) and uninfected normals may reflect events at the molecular level related to leukemogenesis or to processes maintaining the heme-oncologic phenotype.

TSP

leukemogenesis


Input: Predicted target genes for these miRNAs include insulin receptor pathway components (IGF1, IGFR13), cytokines (CCL3, IL6), ghrelin/obestatin gene, and inflammation-related genes (NFKB1, RELB, FAS).

RELB

inflammation


Input: Leptin was also effective to attenuate aspirin-induced damage and the accompanying fall in the GBF, whereas CCK-8 dose dependently worsened aspirin damage and failed to influence GBF.

GBF

fall


Input: These findings show that a proportion of patients with apparent primary torsion dystonia and a good response to anticholinergic drugs have GCH1 mutations and therefore have a variant of dopa responsive dystonia.

dopa responsive dystonia

dopa responsive dystonia


Input: These results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology.

ADHR

ADHR


Input: In addition, studies of BRCA1-related tumors suggest that there may be some important molecular differences as compared to sporadic tumors, with a predominance of high grade lesions that are ER negative and an increased rate of p53 mutations.

sporadic


Input: PCNA expression was correlated with the clinical stage, histological grade and clinical recurrence of hypopharyngeal carcinoma as well as the prognosis of the patients, but was not significantly related with the tumor location or the presence of metastasis to the cervical lymph nodes.

PCNA

hypopharyngeal carcinoma


Input: Sustained NFκB activation, but not persistent intra-acinar expression of active trypsin, was shown to result in chronic pancreatitis.

NFκB

chronic pancreatitis


Input: Since 1965, at least 15 postoperative or postpartum GAS outbreaks attributed to asymptomatic carriage in health-care workers (HCWs) have been reported.

GAS

asymptomatic


Input: In a previous report [Jacquet et al., 2005] we have shown that mild to moderate hyperprolinemia resulting from several alterations (either a complete deletion or missense mutations) of the proline dehydrogenase (PRODH) gene located on chromosome 22q11 is a risk factor for schizoaffective disorder but not for DSM3 R schizophrenia or bipolar disorder.

PRODH

bipolar disorder

PRODH

bipolar disorder


Input: HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium.

HME

somatic mutation


Input: The results showed the frequencies of MIF (-173 C/C and-794 non-CATT (5) carrier) genotypes were significantly higher in the family members of gastric cancer cases than that in the controls family (-173: OR = 2. 59;-794: OR = 2. 65), and the ORs reduced with decreasing relative degrees.

MIF

gastric cancer


Input: To investigate the association of nodular disease in rheumatoid arthritis (RA) with smoking, seropositivity, and polymorphisms at HLA-DRB1 and TNF loci.

TNF

smoking


Input: RelB, an NF-κB family member, suppresses cigarette smoke-induced inflammation but its expression in COPD is unknown.

RelB

inflammation


Input: In addition, a missense mutation in combination with a recurrent nonsense mutation in ENPP1 was discovered in a pediatric PXE case.

PXE

PXE


Input: According to the odds ratio (OR) values, CDKN2A-associated cases seemed to have tumours more often located on the head and neck (adjOR 2. 9, 95% CI 0. 6-13. 7), with less inflammation (adjOR 0. 7, 95% CI 0. 3-1. 8) and regression (adjOR 0. 6, 95% CI 0. 2-1. 8) but more frequent histological ulceration (adjOR 1. 9, 95% CI 0. 6-5. 8).

inflammation


Input: We have used flow cytometry and immunohistochemistry to examine the expression of the cellular markers for proliferation (interleukin-1, epidermal growth factor receptor, and transferrin receptor) and the markers of cellular differentiation (filaggrin and low-molecular-weight cytokeratin) in normal and human papillomavirus--infected human cervical tissues representing the natural range of human papillomavirus--induced disease.

transferrin receptor

weight


Input: Decreased mRNA expression of PGC-1α and PGC-1α-regulated factors in the SOD1G93A ALS mouse model and in human sporadic ALS.

sporadic


Input: More broadly, our work deciphers critical cross-talk between pattern recognition receptors and implicates a role for Dectin-1 in suppression of sterile inflammation, inflammation-induced oncogenesis, and LPS-mediated sepsis.

inflammation


Input: The ACE genotype is unrelated to endothelium-dependent dilation in the systemic arteries of clinically well adults.

ACE

dilation


Input: To test whether single nucleotide polymorphisms (SNPs) of the 4 vitamin D family genes (DHCR7, CYP2R1, CYP27B1, and CYP24A1) previously associated with several autoimmune diseases are associated with ocular Behçet disease, Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU) with ankylosing spondylitis, or pediatric uveitis in the Chinese Han population.

uveitis


Input: As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.

major depression

major depression


Input: As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families.

HDGC

HDGC


Input: N-Terminal sequence analysis of the 25 kDa band demonstrated identity with PLP-C. A polyclonal antiserum to the fusion protein cross reacted with seven major proteins in rat placental culture media of which two were the native forms of PLP-C. Recombinant PLP-C was not mitogenic in the Nb2 lymphoma bioassay and did not exhibit high affinity binding to rat PRL receptor.

PLP

lymphoma


Input: Thus, HIP1 may play a role in tumorigenesis by allowing the survival of precancerous or cancerous cells.

tumorigenesis


Input: Seventy male infertile patients with high FHS levels (> 12 mIU/ml) were screened for mutations in each of the 10 exons of the FSH receptor gene, using genomic DNA PCR and a single-strand conformation polymorphism (SSCP) analysis.

FSH receptor

infertile


Input: Finally, the SNP in the DGAT1 gene was associated with sirloin weight after maturation and fat depth surrounding the sirloin, with animals inheriting the AA genotype having heavier sirloins and more fat.

DGAT1 gene

weight


Input: We analyzed the DAX-1 gene from seven patients in six kindreds with X-linked AHC and identified one frameshift mutation, two missense mutations, and three deletion mutations.

AHC

AHC


Input: The isolated bilateral split foot malformation-associated chromosome 2 breakpoint was localized at 120. 9 Mb, between the two main candidate genes, encoding GLI-Kruppel family member GLI2 and inhibin-betaB.

GLI

split foot


Input: Our data indicate that MK plays a critical role in the tubulointerstitial inflammation associated with diabetic nephropathy through activation of the MCP-1 pathway.

MK

diabetic nephropathy

MK

diabetic nephropathy


Input: An interventional study examining the effects on insulin resistance of altering SHBG concentrations may help in determining whether this association is causal.

SHBG

insulin resistance


Input: Mice with the genetic deletion of GATA-6 in ECs (Gata6-KO) spontaneously develop elevated pulmonary artery pressure and increased vessel muscularization, and these features are further exacerbated in response to hypoxia.

GATA

elevated pulmonary artery pressure


Input: Using genetically engineered mice, we now show that disruption of the RP-Mdm2-p53 pathway by an Mdm2 (C305F) mutation does not accelerate prostatic tumorigenesis induced by inactivation of the pRb family proteins (pRb/p107/p130).

tumorigenesis


Input: In vivo, PDE3A KO mice were protected against collagen/epinephrine-induced pulmonary thrombosis and death, while no such protection was observed in PDE3B KO mice.

thrombosis

thrombosis


Input: Human renal carcinoma cells respond to Newcastle disease virus infection through activation of the p38 MAPK/NF-κB/IκBα pathway.

IκBα

renal carcinoma


Input: Sensitization of human renal cell carcinoma cells to cis-diamminedichloroplatinum (II) by anti-interleukin 6 monoclonal antibody or anti-interleukin 6 receptor monoclonal antibody.

interleukin 6 receptor

renal cell carcinoma

interleukin 6 receptor

renal cell carcinoma