Input: Our results reveal that BA exerts its anti-metastatic effect against DEN-induced hepatocellular carcinoma by inhibiting the activities and expressions of MMP-2 and MMP-9.

hepatocellular carcinoma

hepatocellular carcinoma


Input: FAK/RACK1/PDE4D5 is a novel' direction-sensing' complex that acts to recruit specific components of the cAMP second-messenger system to nascent integrin adhesions and to the leading edge of polarizing cells.

adhesions


Input: Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 2


Input: None of the normal pancreata from sporadic or familial lesions revealed germ-line p53 alterations.

sporadic


Input: The P250R recurrent FGFR 3 mutation was found in 2/22 cases presenting mild clinical manifestations of the disease but 4/22 cases failed to harbour TWIST or FGFR 3 mutations.

mild


Input: We present the novel finding that CD40L binds to the EQLKKSKTL motif on Mac-1 mediating leukocyte recruitment and atherogenesis.

atherogenesis


Input: We investigated the actions of several hormones known to stimulate PRL secretion by the pituitary gland or decidua on PRL secretion by leiomyoma-derived smooth muscle cells (SMC) in monolayer culture.

SMC

leiomyoma


Input: However, antisense to TRPC6, but not to TRPC1, reversed the mechanical hyperalgesia induced by a thermal injury or the TRPV4-selective agonist 4alpha-PDD (4 alpha-phorbol 12, 13-didecanoate).

mechanical hyperalgesia


Input: A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes.

ARPKD

ARPKD


Input: Interleukin-11 attenuates ifosfamide-induced hemorrhagic cystitis.

cystitis

cystitis


Input: To confirm translational relevance of this work, USP18 and PTEN immunohistochemical expression were compared in comprehensive lung cancer arrays.

lung cancer

lung cancer


Input: Silencing of homeobox B9 is associated with down-regulation of CD56 and extrathyroidal extension of tumor in papillary thyroid carcinoma.

homeobox B9

papillary thyroid carcinoma


Input: Expression of ENA-78-like protein in both the AIA serum and joint correlated with the progression of inflammation of the joints.

inflammation


Input: As PGP was not fully informative, 12 additional DNA markers were tested in these families to clarify if a gene involved in the etiology of manic depressive illness might be located on chromosome 16p13.

PGP

manic depressive illness

PGP

manic depressive illness


Input: Cutaneous T cell lymphoma with suppressor/cytotoxic (CD8) phenotype: identification of rapidly progressive and chronic subtypes.

rapidly progressive


Input: We found that the levels of TNF-α, ICAM-1, IL-1β, NGF, BDNF, and neuronal apoptosis rate in neonatal rats with HIBD significantly increased at 6, 24, 48, and 72 hr after hypoxia compared to the control group (p <. 05) and returned back to normal by 7 days.

NGF

hypoxia


Input: The relevance of many BRCA2 variants of uncertain significance (VUS) to breast cancer has not been determined due to limited genetic information from families carrying these alterations.

breast cancer

breast cancer


Input: The critical region of 3. 17 Mb harbored the PTPRQ gene and mouse models with homozygous mutations in the orthologous gene display severe hearing loss.

PTPRQ gene

severe hearing loss


Input: Here we present a case of a sporadic nodule-in-nodule-type HCC that provides the first evidence that biallelic genetic inactivation of the APC gene contributed to the development of the tumor.

HCC

nodule


Input: Namely, R3HDML and C20orf39 are significantly associated with depressive symptoms of schizophrenia (P (emp) & lt; 2 & #215; 10 & #8315; & #8309;) based on the minimum P-value and truncated-product methods, respectively.

depressive symptoms

depressive symptoms


Input: Direct DNA sequencing of the most commonly mutated genes in sporadic endometrial cancer, PTEN, K-RAS, TP53, and CTNNB1, was performed in addition to microsatellite instability (MI) studies.

sporadic


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 withdrawal


Input: We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).

MIM

aniridia


Input: In this paper, we reviewed data regarding to the pivotal role played by the zinc-gene interaction in affecting some relevant cytokines (IL-6 and TNF-alpha) and heat shock proteins (Hsp70-2) in ageing, successful ageing (nonagenarians) and in some age-related diseases (atherosclerosis and infections).

shock


Input: Our findings provide new clues for a better understanding of BMPs contribution, and in particular BMP9, in HCC pathogenesis that may result in the development of effective and targeted therapeutic interventions.

HCC

HCC


Input: MED has been associated with mild myopathy in some families, in particular one family with a COL9A3 mutation and two families with C-terminal COMP mutations.

COMP

mild


Input: Imbalanced down-regulation of ACE and ACE2 mRNA expression levels may play an important role in the development and progression of thoracic aortic aneurysmal dilatation and subsequently dissection.

ACE

thoracic


Input: Since there is no other available probe in this region, pCN2 should prove very useful in studying abnormalities of chromosome 9p in human malignancies.

abnormalities


Input: AR-regulated TWEAK-FN14 pathway promotes prostate cancer bone metastasis.

TWEAK

bone metastasis


Input: These results suggest that downregulation of SERCA2 mRNA, resulting in altered Ca (2 +) handling, may contribute to impaired LV contractile reserve in HCM patients with severe hypertrophy, even in the absence of detectable baseline systolic dysfunction.

hypertrophy


Input: Although the introduction of highly active antiretroviral therapy (HAART) has resulted in a significant decrease of acquired immunodeficiency syndrome (AIDS) morbidity and mortality, the prevalence of human immunodeficiency virus (HIV)-associated dementia (HAD) has actually risen, due to the increasing life expectancy of the infected subjects.

HAD

immunodeficiency syndrome


Input: The objective of the current study was to examine the prospective association of 3 polymorphisms-a Tth111I restriction fragment in the promoter region, a BclI polymorphism in intron 2, and an A/G polymorphism in exon 2-of the GRL gene on estimates of obesity, hypertension, and diabetes in 163 unrelated Swedish men born in 1944.

GRL

obesity


Input: Patients with HCC suffer from chronic hepatitis or liver cirrhosis, and their reserve liver function is often limited.

HCC

chronic hepatitis


Input: IL-17A increased appeared to promote fibrosis by activating inflammatory and liver resident cells.

fibrosis


Input: To investigate the effect of interferon (IFN)-γ administration on renal interstitial fibrosis (RIF) and intrarenal vascular resistance of diseased kidneys in a reversible unilateral ureteral obstruction (RUUO) animal model.

IFN

renal interstitial fibrosis


Input: Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Moreover, HMGB3 expression was upregulated in bladder cancer tissues and showed inverse correlation with miR-532-5p expression.

bladder cancer

bladder cancer


Input: Beta-3-adrenergic receptor (beta-3-AR) and insulin receptor substrate 1 (IRS-1) have been implicated in the pathogenesis of obesity and in obesity related increase in insulin resistance which is associated with, among other diseases, dyslipidemia and type 2 diabetes mellitus.

Beta-3-adrenergic receptor

insulin resistance


Input: HLA-B * 35 is associated with increased risk of developing pulmonary hypertension in SSc patients.

HLA-B

pulmonary hypertension


Input: APOE R136S and p. Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively.

APOE

FD

APOE

FD


Input: Surprisingly, our observations in Swedish FAD showing a remarkable abundance of A beta 42 in both parenchymal and vascular deposits were qualitatively similar to the Down' s syndrome and most sporadic AD cases, and to previously published A beta PP717 FAD.

FAD

sporadic


Input: This high percentage of LOH seems to corroborate the important role of p53 in sporadic colorectal cancer.

sporadic


Input: In 5 of 21 sporadic patients, we found 3 de novo missense mutations in the region encoding the highly conserved methyl-binding domain (MBD) as well as a de novo frameshift and a de novo nonsense mutation, both of which disrupt the transcription repression domain (TRD).

TRD

sporadic


Input: Genetic variation in 24 ROS-related genes, including EGFR, CENPE, APEX1, and GSTP1, was associated with mRNA expression of 14 genes previously linked to fibrosis (P ≤. 005).

fibrosis


Input: ATF2 has been implicated in a transcriptional response leading to cell migration and malignant tumor progression.

malignant tumor

malignant tumor


Input: A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

Richieri-Costa-Pereira syndrome

Richieri-Costa-Pereira syndrome


Input: Further studies are needed to investigate whether modulation of AhR might be used in the treatment of BD.

AhR

BD

AhR

BD


Input: In patient fibroblasts, the activity of sulfatases is partially restored by transduction of FGE encoding cDNA, but not by cDNA carrying an MSD mutation.

FGE

MSD

FGE

MSD


Input: Here, we investigated the significance of the glutamate-L:-cysteine ligase catalytic subunit (GCLC) expression, a key regulator of glutathione synthesis, for malignant melanoma.

GCLC

malignant melanoma


Input: Gelatinase B transcripts were commonly observed in the sinusoidal cells of the hepatic lobules, in mesenchymal cells both in fibrous capsules and around the necrosis, and also in some undefined cells of the portal tracts of noncancerous liver.

Gelatinase B

necrosis


Input: We examined the involvement of plasma adropin and adropin-associated genes (ENHO and RXRA) in metabolic abnormalities of hemodialysis (HD) patients.

ENHO

abnormalities


Input: Rho kinase-mediated vasoconstriction rather than fixed arterial wall thickening is responsible for increased pulmonary vascular resistance and pulmonary hypertension in chronically hypoxic and monocrotaline-injected rats.

Rho kinase

pulmonary hypertension


Input: Mutations in TAZ are associated with Barth syndrome (BTHS), the X-linked recessive condition with dilated cardiomyopathy, skeletal myopathy, growth retardation, neutropenia and organic aciduria.

BTHS

organic aciduria


Input: We first demonstrated that SphK-1 is overexpressed in endothelial cells (EC) isolated from rat brain tumors compared with EC from normal brain.

SphK

brain tumors


Input: To investigate possible differences in Th1 and Th2 cytokine mRNA expression in the synovial tissue (ST) of patients with rheumatoid arthritis (RA) and seronegative spondyloarthropathies (SpA) with diagnostic and/or pathogenic interest.

spondyloarthropathies


Input: These findings demonstrate that Ang II stimulates the epigenetic regulation of S1PR1 expression via H & lt; sub & gt; 2 & lt;/sub & gt; O & lt; sub & gt; 2 & lt;/sub & gt;-mediated APE/Ref-1 translocation, which may consequently be involved in Ang II-induced VSMC migration and vascular neointima formation.

neointima formation

neointima formation


Input: SYBR Green PCR and IHC confirmed that the STIP-1 mRNA and protein expression levels were significantly up-regulated in ovarian cancers compared with normal and benign tumors (P = 0. 003 and P < 0. 001, respectively).

STIP

benign tumors


Input: These results support the protective role of DT-diaphorase against aminochrome neurotoxicity in dopaminergic neurons containing neuromelanin and show that Nq6 and Nq7 siRNA are very useful tools to study the role of DT-diaphorase in aminochrome metabolism.

DT-diaphorase

neurotoxicity

DT-diaphorase

neurotoxicity


Input: The positive rates of PCNA and GST-pi were 34. 8% (8/23) and 25. 0% (4/16) in chronic hepatitis, 73. 7% (14/19) and 17. 6% (3/17) in liver cirrhosis, 86. 7% (13/15) and 53. 3% (8/15) in the paratumorous tissue, 100% (15/15) and 60. 0% (9/15) in HCC, respectively, and the positive rate of GST-pi in the paratumorous tissue was significantly higher than that in the liver cirrhosis without tumor (P < 0. 05), but same as that in HCC (P > 0. 05).

HCC

chronic hepatitis


Input: Increased muscle and adipose tissue PPARgamma and PGC-1alpha expression in response to physical training may mediate the beneficial effects of exercise on insulin sensitivity.

insulin sensitivity


Input: One form of mucin was the native, highly glycosylated MUC1 isolated from the ascites of breast or pancreatic cancer patients.

ascites


Input: We hypothesized that inducible ischemia leads to cytokine production, TF expression, and consequently persistent left ventricular dysfunction after dobutamine stress echocardiography (DSE) in coronary artery disease patients.

DSE

coronary artery disease


Input: DNA extracted from 84 DBS samples from chronic obstructive pulmonary disease patients was genotyped for AAT deficiency variants by real-time PCR.

DBS

chronic obstructive pulmonary disease


Input: BRAF mutations in non-Hodgkin' s lymphoma.

BRAF

non-Hodgkin' s lymphoma

BRAF

non-Hodgkin' s lymphoma


Input: Human serum paraoxonase-1 (PON1) prevents oxidation of low density lipoprotein cholesterol (LDL-C) and hydrolyzes the oxidized form, therefore preventing the development of atherosclerosis.

atherosclerosis

atherosclerosis


Input: Together with the two previous studies, this report shows that inappropriate stimulation of the FSHr by hCG is a cause of spontaneous OHSS.

FSHr

OHSS

FSHr

OHSS


Input: Molecular variation in DNAH1 may play a role in PCD and its potential contribution should be considered in patients where all known genes are excluded.

PCD

PCD


Input: Lysophosphatidic acid (LPA) has been implicated in ovarian oncogenesis as levels of this lipid are elevated in patient ascites and plasma.

LPA

ascites


Input: Use of our consensus primers eliminates the need for separate PCRs to amplify EWS-FLI and EWS-ERG translocation junctions, and because direct sequencing is used for confirming the identity of the amplification product, the accuracy of detection becomes 100%.

EWS

translocation


Input: The functions of SIRT1 in the migration and invasion in the HCC cell line were analyzed by infecting cells with adenovirus containing full-length SIRT1 or sh-RNA.

HCC

adenovirus


Input: In this study, we examined five single-nucleotide polymorphisms (SNPs) within or near the dopamine D (1) receptor gene (DRD1) for their association with ND, which was assessed by smoking quantity (SQ), the Heaviness of Smoking Index (HSI), and the Fagerström Test for ND (FTND).

smoking


Input: Alleles of CDKN2B-AS1 SNPs, which influence risk of developing POAG, also modulate optic nerve degeneration among POAG patients, underscoring the role of CDKN2B-AS1 in POAG.

nerve degeneration


Input: Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.

chronic lymphocytic leukaemia


Input: Specifically, application of IL-22 is associated with tissue protection and/or regeneration in murine models of infection/microbe-driven inflammation at host/environment interfaces, ventilator-induced lung injury, pancreatitis and liver damage.

pancreatitis


Input: Taking into account the ability of alpha-amylase to hydrolyze the internal alpha-1, 4 linkages of polysaccharides, we wanted to elucidate the involvement of alpha-amylase in XDH/XOD mobilization from the gastrointestinal endothelial cell surface and the relevance of the ascitic fluid (AF) as the source of alpha-amylase in experimental acute pancreatitis.

XDH

acute pancreatitis


Input: SAA in particular may serve as a potential marker for detecting stomach cancer.

SAA

stomach cancer


Input: We conclude that α-CD137 and α-PD-1 antibodies were most effective in enhancing SBRT-induced tumor growth delay in this mouse melanoma model, outperforming the ability of IL-2, or the combination of α-CTLA-4 and α-PD-1 to synergize with SBRT.

growth delay


Input: Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

growth hormone receptor

Laron syndrome

growth hormone receptor

Laron syndrome


Input: We investigated whether CXCR2 expression contributed to the failure of neutrophils to migrate during severe sepsis and the role of NO in modulating CXCR2 expression on neutrophils in mice subjected to nonsevere (NS) or severe (S) cecal ligation and puncture (CLP).

CLP

severe sepsis


Input: We have previously shown that linking therapeutic transgene expression to induction of the chemokine CCL5/RANTES allows a more focused expression within primary tumors, as the adoptively transferred MSC develop carcinoma-associated fibroblast-like characteristics.

MSC

carcinoma


Input: Leukaemia-DCs transduced with OX40L elicited higher proliferative response of allogeneic CD4 + T cells than fresh leukaemic cells, non-transduced, or mock-transduced leukaemia-DCs.

leukaemia


Input: The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.

clubfoot

clubfoot


Input: Online SAGE datasets revealed intelectin to be consistently present in mesothelioma (s), ovarian cancer, and colon cancer.

SAGE

mesothelioma


Input: CD97, but not its closely related EGF-TM7 family member EMR2, is expressed on gastric, pancreatic, and esophageal carcinomas.

EGF

esophageal


Input: To study the relationships between mutagenesis and carcinogenesis, we compared the mutations and their frequency induced by ultraviolet irradiation at 254 nm (UV-C) in XP-D (GM-08207B/XP6BE), TTD/XP-D (TTD1VI-LAS-KMT11) and wild-type (MRC-5V1) human cells.

LAS

carcinogenesis


Input: Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

leukocyte adhesion deficiency type 1

leukocyte adhesion deficiency type 1


Input: We have thus provided the first evidence that early induction of HSP70 by chronic hypoxia is critical for maintaining expression levels of presynaptic proteins.

hypoxia


Input: In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome.

H syndrome

H syndrome


Input: On the other hand, inhibition of STAT1 by genetic or chemical means reverted the hypersensitivity of Fanconi anemia group A lymphoblasts to DNA interstrand crosslinking agents.

hypersensitivity


Input: However, the frequency, cooccurrence, and clinical value of PDGFRA abnormalities in diffuse gliomas remain unclear.

PDGFRA

abnormalities


Input: Reversal of cardiomyocyte hypertrophy during LVAD support was accompanied by normalization of ANP, BNP and NPR-C mRNA levels and a significant recovery of GC-A responsiveness to ANP.

BNP

cardiomyocyte hypertrophy


Input: Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (& #8764; 4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples.

TRRAP

melanoma

TRRAP

melanoma


Input: Drastic Ca2 + sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.

restrictive cardiomyopathy


Input: All patients had private mutations, including seven new mutations, three previously reported mutations and three sporadic deletions encompassing the NKX2-1 gene.

NKX2-1 gene

sporadic


Input: To study the functional consequences of different MCT8 mutations in detail, we combined functional analysis in different cell types with live-cell imaging of the cellular distribution of seven mutations that we identified in patients with AHDS.

AHDS

AHDS


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

major depression

major depression


Input: TNF-alpha mRNA was detected in the synovial cells of patients with rheumatoid arthritis (RA) and osteoarthritis (OA) and also in the U937, THP1, and HL60 cell lines.

osteoarthritis


Input: Mutations of SLC26A4 are associated with incomplete partition type II (IP-II) and isolated enlargement of the vestibular aqueduct (EVA).

EVA

enlargement


Input: A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients.

lamin A/C

DCM

lamin A/C

DCM


Input: We have taken advantage of the hamster strain CHF147 that displays progressive cardiomyopathy leading to heart failure to test whether stimulation of a hypertrophic pathway could delay the process of dilatation. Six month old CHF147 hamsters were treated with IGF-1 so that we could compare the efficacy of systemic administration of human recombinant IGF-1 protein (rh IGF-1) at low dose to that of direct myocardial injections of a plasmid DNA containing IGF-1 cDNA (pCMV-IGF1). IGF-1 treatment did not induce a significant variation of ventricle mass, but preserved left ventricular (LV) wall thickness and delayed dilatation of cardiac cavities when compared to non-treated hamsters.

dilatation


Input: Among 127 patients with IgH translocations, 57 were t (11; 14), 36 t (4; 14), 11 musculoaponeurotic fibrosarcoma (MAF) translocations, and 23 other or unknown IgH translocation partner.

MAF

translocation


Input: Interestingly, vascular progerin is detectable in lower levels, in an age-related manner, in the general population, providing the basis for further study of the potential role of abnormal forms of lamin A in the atherosclerotic process of normal aging.

lamin A

aging


Input: Suppression of phosphatase and a tensin homolog deleted on chromosome 10 (PTEN) gene expression leading to activation of the phosphatidylinositol-3-OH kinase (PI3K)/Akt pathway has been observed in many cancers including leukemia, making the PTEN gene and PI3K/Akt pathway a central target for cancer therapy.

tensin

cancers


Input: At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins.

stratifin

SCC

stratifin

SCC


Input: The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric patients with CD.

CD

CD


Input: Increased manganese superoxide dismutase (SOD-2) is part of the mechanism for prostate tumor suppression by Mac25/insulin-like growth factor binding-protein-related protein-1.

prostate tumor

prostate tumor


Input: The aim of this study was to investigate a possible association of ABCB11 c. 1331 T > C with hepatitis C virus (HCV) infection and fibrosis stages as assessed by non-invasive transient elastography in a German cohort of patients.

fibrosis


Input: In our case-control study, we determined the prevalence of the C609T NQO1 polymorphism by PCR-RFLP analysis in Caucasian patients with oesophageal adenocarcinoma (OAC; n = 61), cardiac adenocarcinoma (CAC; n = 120) or gastric adenocarcinoma (GAC; n = 203) vs. a control group that consisted of 252 healthy blood donors.

CAC

gastric adenocarcinoma


Input: p97/VCP aids in the extraction of ubiquitinated proteins from the endoplasmic reticulum (ER) and facilitates their delivery to the proteasome.

VCP

aids


Input: Indeed, immunochemical analyses on cells isolated from the ascites and on tumor sections indicated that IL-18BP is expressed in both tumor cells and tumor-associated leukocytes, which displayed a CD3-CD20-NKp46-CD13 + CD14low phenotype.

ascites


Input: To clarify the association between factors regulating DNA methylation and the prognosis of autoimmune thyroid diseases (AITDs), we genotyped single nucleotide polymorphisms in genes encoding DNA methyltransferase 1 (DNMT1), DNMT3A, DNMT3B, methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR), which are enzymes essential for DNA methylation.

thyroid diseases


Input: The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.

BDNF

inflammation

BDNF

inflammation


Input: Subjects in the initial population included 1402 asymptomatic Amish adults in whom we measured platelet reactivity (n = 788) and coronary artery calcification (CAC) (n = 939).

CAC

coronary artery calcification


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

VWF

hyperlipidemia


Input: The FGF/FGFR/ERK signaling pathway may be a target for therapeutic strategies against uveal melanoma.

ERK

uveal melanoma


Input: The 11; 22 chromosomal translocation specifically linked to Ewing sarcoma and primitive neuroectodermal tumor results in a chimeric molecule fusing the amino-terminal-encoding portion of the EWS gene to the carboxyl-terminal DNA-binding domain encoded by the FLI1 gene.

EWS gene

chromosomal translocation


Input: In the same model system, we show that a COOH-terminal truncation mutant of ING4 found in human cancer cells could act alone to induce abnormal gland structures resembling mammary hyperplasia, which did not progress to tumors.

hyperplasia


Input: These data suggest that upregulated expression of IL-2, IL-4, and IFN-gamma may be part of the inflammatory cascade of human acute GVHD, while IL-1 alpha, TNF-alpha, and IL-6 are not discriminatory for the inflammation observed at the time of initial GVHD diagnosis.

inflammation


Input: Carriage of the PNPLA3 rs738409 C > G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC.

HCC

fibrosis


Input: In this study we investigated the putative pathophysiological mechanism, by which angiotensin converting enzyme (ACE), and angiotensin II receptor (ATR) type 1 and 2 might contribute to cancer progression and lymph node metastasis in gastric cancer.

angiotensin converting enzyme

metastasis

angiotensin converting enzyme

metastasis


Input: Galactocerebrosidase loss leads to the accumulation of psychosine and subsequent oligodendrocyte cell death, demyelination, macrophage recruitment, and astroglial activation and proliferation.

Galactocerebrosidase

demyelination


Input: In several genome-wide association studies, nonalcoholic fatty liver disease and alanine aminotransferase susceptibility variants have been identified in several genes, including LYPLAL1, ZP4, GCKR, HSD17B13, PALLD, PPP1R3B, FDFT1, TRIB1, COL13A1, CPN1, ERLIN1, CWF19L1, EFCAB4B, PZP, and NCAN.

PALLD

nonalcoholic fatty liver disease


Input: To that end, we examined the expression of p18INK4C by immunohistochemistry in various liver diseases, including 51 HCCs, and also studied the relationship between p18INK4C expression, the phosphorylation of retinoblastoma protein (pRb), and the activity level of Cdk4 and Cdk6.

liver diseases


Input: GDH protein expression were also reduced (P & lt; 0. 05) in FGR placentas compared to normal placentas (1. 055 +/-0. 079 vs. 1. 322 +/-0. 053, respectively; mean +/-SE).

GDH

FGR

GDH

FGR


Input: Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel.

abnormalities


Input: The human tumor suppressor CEACAM1 modulates apoptosis and is implicated in early colorectal tumorigenesis.

tumorigenesis


Input: Using mice deficient in 1 of 4 prostaglandin E2 (PGE2) receptors--specifically, the EP2 receptor--we show that Ep2 (-/-) females are infertile secondary to failure of the released ovum to become fertilized in vivo.

infertile

infertile


Input: Here we set out to test the hypothesis that common variation within the EphB2 locus is associated with increased risk of sporadic PC in AAM.

sporadic


Input: Expression of specific IGF binding proteins (IGFBPs) by prostate cancer tissues may modulate IGF cellular actions, and possibly determine both IGF-dependent tumor growth and biological aggressiveness in vivo.

IGF

aggressiveness


Input: We examined associations of APOL1 with incident albuminuria and kidney function decline among 3030 young adults with preserved GFR in the Coronary Artery Risk Development in Young Adults (CARDIA) study.

GFR

albuminuria


Input: Expression of hsp60 was markedly reduced in 2008 xenografts as compared with 2008 cells growing in vitro; however, neither serum starvation nor refeeding altered the message level.

starvation


Input: Alterations in transcript levels of mitotic spindle kinases such as CHEK1, AURKA, and AURKB were associated with the aneuploid progression pattern, particularly in t (8; 21) cases.

aneuploid


Input: Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts.

Progerin

ageing


Input: These results suggest that regulation of NRP-1 expression in human gastric cancer is intimately associated with the EGF/EGF-R system.

NRP

gastric cancer


Input: To evaluate the possible role of cytokines in human immunodeficiency virus (HIV)-associated muscular disorders, we performed immunocytochemistry for interleukin-1 alpha,-1 beta, and-6 and tumor necrosis factor-alpha on frozen muscle biopsy specimens from HIV-infected patients with various myopathies (HIV polymyositis in 5, HIV-wasting syndrome in 5, zidovudine myopathy in 10) and from seronegative individuals (normal muscle in 2, mitochondrial cytopathies in 10).

interleukin-1 alpha

HIV-wasting syndrome

interleukin-1 alpha

HIV-wasting syndrome


Input: Activation of NF-κB by SOD2 promotes the aggressiveness of lung adenocarcinoma by modulating NKX2-1-mediated IKKβ expression.

aggressiveness


Input: LAMA-84 cells retained the patient' s chromosome abnormalities, i. e., triplication of all chromosomes except chromosome 18, the presence of Philadelphia (Ph) chromosome in 4-5 copies, and the presence of chromosome markers.

LAMA

chromosome abnormalities


Input: We found that the percentage of B10 cells was reduced in both mice (steady state and inflammatory state) and in humans and that the lower B10 population correlated with an imbalance in the Treg/Th1 ratio in old WASp KO mice with autoimmune colitis.

colitis


Input: Among the lung and pancreatic cancers, 50-74% showed low TS/high DPD expression.

DPD

pancreatic cancers

DPD

pancreatic cancers


Input: Peripheral blood CD8 + T cells from mild atopic asthmatic subjects were stimulated in vitro with anti-CD3 and IL-2 +/-excess IL-4 and the expression of activation and adhesion molecules and type 1 and type 2 cytokine production were assessed.

mild


Input: There was a trend found among the majority of homozygous A and G variants in LEP-2548 G/A and LEPR 668 A/G in over-weight and obese individuals in comparison to normal-weight subjects (CG).

LEP

weight


Input: Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

dominant optic atrophy

dominant optic atrophy


Input: FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey.

FSHR

infertile


Input: By performing systematic biochemical and bioinformatical analyses, we identified two miR-221 targets, HECTD2 and RAB1A, which could mediate the development of CRPC phenotype in multiple prostate cancer cell lines.

prostate cancer


Input: The IL-4Ralpha chain and IL-13 promoter polymorphisms are gain-of-function mutations associated with atopy.

atopy


Input: A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

CATSHL) syndrome

CATSHL) syndrome


Input: No translocation of the EWS gene was found by FISH and no gross chromosomal gain or loss was detected by CGH.

EWS gene

translocation


Input: A novel missense mutation (Asn5--& gt; Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.

LCAT

LCAT deficiency

LCAT

LCAT deficiency


Input: In summary, FRNK represents a novel mechanism to negatively regulate IL-4-mediated inflammation.

inflammation


Input: Due to an important role of Cide-A protein demonstrated in the development of metabolic diseases such as obesity, metabolic syndrome, type 2 diabetes and their vascular complications, CIDE-A gene and protein are potential therapeutic targets in the case of these diseases.

Cide-A

metabolic diseases


Input: Mutations within the promoters of either of the γ-globin genes [(G) γ (HBG1) and (A) γ (HBG2)] lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, α2γ2) in the syndrome of hereditary persistence of fetal Hb (HPFH).

hemoglobin


Input: To determine whether the ocular surface inflammation in uveitis mimics or counteracts intraocular inflammatory pathways by directly comparing T-helper (Th) lymphocytes Th1 and Th2 markers in conjunctival and ciliary body expression in endotoxin-induced uveitis (EIU).

inflammation


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

NF--L

bipolar disorder

NF--L

bipolar disorder


Input: ISS patients with G/A or A/A genotypes of the LEPR Q223R SNP had a significantly higher height velocity (cm/y) than ISS patients with the G/G genotype at 2 years after GH treatment.

LEPR

height


Input: Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI.

NBCIE

NBCIE


Input: Negative correlations were observed in the fibrosis samples of mixed etiology between miR-122 and fibrosis stage and LS values (P < 0. 05), and in the samples of chronic viral hepatitis, between miR-221 and fibrosis stage (P < 0. 01), whereas miR-21 showed positive correlation with ALT values in the samples of autoimmune liver diseases (P < 0. 03).

chronic viral hepatitis


Input: Twin studies demonstrated genetic covariance (pleiotropy, ρ (G)) for CHGA, BMI, and leptin with other metabolic traits (insulin resistance, BP, and CRP).

CRP

insulin resistance


Input: At the 6-month follow-up after LAGB, carriers of G-174G IL-6 genotype had lost more weight than G-174C or C-174C genotype (P = 0. 037), and carriers of A-866A uncoupling protein 2 genotype had lost more weight as compared with G-866G (P = 0. 018) and G-866A (P = 0. 035) genotype, respectively.

uncoupling protein 2

weight


Input: Refined analysis of the CLCA4 association signal among F508del homozygous CF patients who exhibit either no, CFTR-mediated or Ca (2 +)-mediated residual chloride conductance revealed that allele distributions for markers rs11807298-rs113894048-rs6684219 differed significantly among these three patient groups.

CF

CF


Input: Deletion of IL-33R (ST2) gene in BALB/c mice enhanced tumor necrosis and attenuated tumor growth in 4T1 breast cancer model, which was associated with markedly decreased expression of vascular endothelial growth factor (VEGF) and IL-33 in mammary tumor cells.

VEGF

mammary tumor


Input: Moreover, we showed that HIV-1 Nef protein down-modulated LFA-1 expression on T lymphocytes and diminished adhesion and polarization of T lymphocytes and as a result, led to decreased migration across the endothelium.

adhesion


Input: Recombinant viruses containing an S gene derived from MHV-2 in an MHV-A59 background (Penn98-1 and Penn98-2) exhibited a persistence-positive, demyelination-negative phenotype.

S gene

demyelination


Input: We report the detailed expression profile of TRPM2 mRNA within the human central nervous system (CNS) and demonstrate increased TRPM2 mRNA expression at 1 and 4 weeks following ischemic injury in the rat transient middle cerebral artery occlusion (tMCAO) stroke model.

middle cerebral artery occlusion


Input: Mechanistically, IP (3) R2-enhanced cardiac hypertrophy following isoproterenol infusion was significantly reduced in the calcineurin-Abeta-null background.

IP (3) R2

cardiac hypertrophy

IP (3) R2

cardiac hypertrophy


Input: Forty-seven gliomas were arrayed on a custom version of the Affymetrix HG-U133 + 2. 0 GeneChip, for expression of fourteen senescence-associated genes: CCL2, CCL7, CDKN1A, COPG, CSF2RB, CXCL1, ICAM-1, IGFBP-3, IL-6, IL-8, SAA4, TNFRSF-11B, TNFSF-11 and TP53.

gliomas


Input: Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.

X-linked congenital adrenal hypoplasia

X-linked congenital adrenal hypoplasia


Input: The second experiment focused on the effects of Cx32 disruption on metastasis by HCCs induced by administration of DEN and N-nitrosomorpholine.

metastasis

metastasis


Input: A lack of DNA mismatch repair (MMR) is observed in approximately 20% of sporadic endometrial tumors, but few of these tumors have mutations in MSH2 or MLH1, the two major MMR genes.

sporadic


Input: These findings provide an important insight into the key role of PTX3 in inflammation-associated osteolytic complications of breast cancer.

inflammation


Input: The TLR4 Gly allele was not detected at all in a subgroup of non-smoking patients (n = 24).

smoking


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

depression

depression


Input: The growth-inhibitory effect of dietary GSPs (0. 5%, w/w) on the NSCLC xenograft tumors was associated with the inhibition of COX-2, PGE (2), and PGE (2) receptors (EP1, EP3, and EP4) in tumors.

tumors


Input: Re-expression of FILIP1L in FILIP1L-low expressing, highly-invasive cancer cell lines resulted in inhibition of cell invasion.

invasive cancer


Input: Mendelian randomization was used to examine potential causality of SHBG on the metabolic measures and insulin resistance.

SHBG

insulin resistance


Input: Genes deregulated at the DNA and mRNA level included well-known cancer genes partly already linked to melanoma (RAS genes, PTEN, AURKA, MAPK inhibitors Sprouty/Spred), but also novel candidates like SIPA1 (a Rap1GAP).

melanoma

melanoma


Input: It has been shown that IL-8 is elevated in ovarian cyst fluid, ascites, serum, and tumor tissue from ovarian cancer (OVCA) patients, and increased IL-8 expression correlates with poor prognosis and survival.

ascites


Input: Our data indicate that KCa3. 1 channels are involved in the inhibitory effects exerted by the glioma microenvironment on infiltrating M/MΦ, suggesting a possible role as therapeutic targets in glioma.

KCa3. 1

glioma


Input: Excessive LBP and CD14 mRNA expression might be associated with enhanced synthesis and release of TNF-alpha stimulated by endotoxin translocation after major burns.

TNF-alpha

translocation


Input: MH-induced cardiomyocytes hypertrophy, TRPC up-regulation and enhanced Ca (2 +)-calcineurin signals were inhibited by an HIF-1α specific blocker, SC205346 (30 μM), whereas promoted by HIF-1α overexpression.

hypertrophy


Input: MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).

MME

MME


Input: Myotonic dystrophy (MD) is a neuromuscular disorder of autosomal dominant inheritance, which is categorized by 2 main sub-types: type 1 (MD1) and type 2 (MD2).

neuromuscular disorder


Input: In conclusion, our genetic, histological, and biochemical findings give further support to an involvement of OMI/HTRA2 in the pathology of AD; however, further studies are needed to clarify the role of this gene in neurodegeneration.

neurodegeneration


Input: The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene.

PBGD

AIP

PBGD

AIP


Input: There was no association between the mother' s PON1 and PON2 genotypes and preterm delivery, and we did not observe an interaction between mothers' and children' s genotypes.

preterm delivery


Input: Consistent with this finding, siRNA-mediated suppression of ALL1/AF4 in SEMK2 cells carrying the t (4; 11) chromosome translocation resulted in down-regulation of EphA7.

chromosome translocation


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

pneumonitis

pneumonitis


Input: Thirteen patients with idiopathic Parkinson' s disease and " on-off " fluctuations on oral levodopa plus dopa decarboxylase inhibitor (DDI) were treated with continuous (24 hour) subcutaneous lisuride infusions together with a reduced dose of levodopa (plus DDI).

dopa decarboxylase

idiopathic Parkinson' s disease

dopa decarboxylase

idiopathic Parkinson' s disease


Input: NDG could increase the HVA content in sera (P < 0. 05), meanwhile downregulate the expression of DRD2 mRNA in striatum (P < 0. 05), and inhibit the stereotyped behaviors induced by Apo (P < 0. 01) in TS rats, the same effects with Hal.

stereotyped behaviors


Input: However, no link between MUC1 overexpression and the presence of bile acids in the reflux has been established so far, and molecular mechanisms regulating MUC1 expression during esophageal carcinogenetic sequence are unknown.

reflux


Input: The role of p16 (INK4A)/p14 (ARF) and p53 mutations in sporadic glioma provides a strong rationale for investigating germline mutations in these genes as a cause of familial glioma.

sporadic


Input: In addition, joint effect between γ-H2AX ratio and smoking was observed: smokers who had high γ-H2AX ratio exhibited the highest risk of esophageal adenocarcinoma (OR = 5. 53; 95% CI, 2. 71-11. 25) compared with never smokers with low γ-H2AX ratio.

smoking


Input: Taken together, an interaction between MDM2 SNP 309 and p53 with respect to tumor behaviors (including disease onset, tumor differentiation, LNECS and disease-free survival) was observed in sporadic Taiwanese OSCCs.

sporadic


Input: We report here on a case of occlusive stroke at young age and hyperhomocysteinemia with homozygous VN (677C to T) variant in the MTHFR gene as well as homozygous D/D (2756G to A) variant in the MS gene.

MS gene

hyperhomocysteinemia


Input: We evaluated the effect of body mass index (BMI) and mutation status of tumor suppressor gene p53 (TP53) on patients with urinary bladder cancer.

body mass index


Input: While TNF enhanced expression of a common restricted set of genes involved in angiogenesis and inflammation in GM-CSF, IFN-γ and IL-10-differentiated macrophages, expression of multiple chemokines and cytokines, including CXCL3, CXCL5, CXCL8, IL6, and IL12B was further augmented in the presence of Ang-1 and Ang-2, via Tie2 activation of JAK/STAT signaling.

inflammation


Input: Consistent with a functional role for this coordinated program in tumorigenesis, we observe that clinical outcomes are strongly associated with CD36 expression.

tumorigenesis


Input: High-throughput copy number and gene expression data of 36 microsatellite stable sporadic colon cancers resected from patients of a single institution characterized for mutations in APC, KRAS, TP53 and loss of 18q were analyzed.

sporadic


Input: Ectopic expression in L mouse fibroblasts (LM cells) of wild-type CLDN14 protein induced the formation of tight junctions, while both the c. 254T & gt; A (p. V85D) mutant, previously identified in a Pakistani family, and the c. 301 G & gt; A (p. G101R) mutant, identified in this study through the screen of 183 Spanish and Greek patients affected with sporadic nonsyndromic deafness, failed to form such junctions.

nonsyndromic deafness

nonsyndromic deafness


Input: Novel SMAD4 mutation causing Myhre syndrome.

Myhre syndrome

Myhre syndrome


Input: We tested the hypothesis that hypoxia is an initial signal that stimulates transcription of Abcc8, the gene encoding SUR1, via activation of hypoxia-inducible factor 1 (HIF1).

hypoxia


Input: To elucidate the role of SIRT1 in human skin carcinogenesis, we have examined SIRT1 protein expression in 20 cases each of squamous cell carcinoma (SCC), basal cell carcinoma (BCC), Bowen' s disease (BD), and actinic keratosis (AK) by immunohistochemical analysis.

basal cell carcinoma


Input: Utilizing tissue microarrays composed of normal esophageal squamous mucosa (n = 20), Barrett esophagus (n = 10), low-grade dysplasia (n = 14), high-grade dysplasia (n = 27), adenocarcinoma (n = 59), and node metastases (n = 27), we confirmed differential up-regulation of three proteins (Cdc2/Cdk1, Cdc5, and Igfbp3) in adenocarcinomas and Barrett lesions.

esophageal


Input: Our findings indicate that the SNP rs3758549 (C > T substitution) in the Pitx3 gene is a potential risk for sporadic PD, especially early-onset PD in Chinese Han population.

Pitx3 gene

sporadic


Input: Increased glucose delivery to embryos, or activation of pathways that are stimulated by high glucose, such as the hexosamine biosynthetic pathway or hypoxia, increase oxidative stress in embryos, inhibit expression of Pax3, a gene that encodes a transcription factor that is required for neural tube closure, and increase neural tube defects.

hypoxia


Input: Aquaporin-1 (AQP1) is a member of aquaporin family that was previously proven to be involved in myocardial dysfunction; however, the role of AQP1 in myocardial stunning is less clear.

myocardial stunning


Input: A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

PPM-X syndrome

PPM-X syndrome


Input: Inactivation of the INK4a/ARF locus and p53 in sporadic extrahepatic bile duct cancers and bile tract cancer cell lines.

sporadic


Input: While TNF enhanced expression of a common restricted set of genes involved in angiogenesis and inflammation in GM-CSF, IFN-γ and IL-10-differentiated macrophages, expression of multiple chemokines and cytokines, including CXCL3, CXCL5, CXCL8, IL6, and IL12B was further augmented in the presence of Ang-1 and Ang-2, via Tie2 activation of JAK/STAT signaling.

inflammation


Input: Tumor-specific methylation changes at IGF2 DMR2 were observed in 59% of cancer patients, IGF2 DMR0 in 38%, DIRAS3 DMR in 36%, GRB10 ICR in 23%, PEG3 DMR in 21%, MEST ICR in 19%, H19 ICR in 18%, KvDMR in 8% and SNRPN/SNURF ICR in 4%.

SNURF

cancer


Input: Similarly, PV-IgG-mediated acantholysis and disruption of Dsg3 localization in HaCaT keratinocytes was partially blocked by TP.

acantholysis


Input: Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases.

sporadic


Input: Interaction between early maternal smoking and variants in TNF and GSTP1 in childhood wheezing.

TNF

smoking


Input: TP53 was the most commonly mutated gene, with prevalence similar to that of sporadic colorectal tumors (63% of cases).

sporadic


Input: Laser capture microdissection was performed on invasive breast cancer frozen sections from 65 patients undergoing resection with sentinel lymph node (SLN) or level I and II ALN dissection.

ALN

invasive breast cancer


Input: A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

ESRRB

Nonsyndromic Hearing Impairment

ESRRB

Nonsyndromic Hearing Impairment


Input: Validated secondary reference materials can facilitate global diffusion of the IS without the need to perform sample exchange and improve the accuracy and precision of BCR-ABL1 quantitative measurements, including at low levels of residual disease.

residual disease


Input: NF-kappa B was present in HUVEC nuclei treated with TNF-alpha, whereas translocation of NF-kappa B to the nucleus was absent in TNF-alpha-treated HUVECs pretreated with PDTC.

TNF-alpha

translocation


Input: Mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain IIA, have been recently reported in three syndromes that share the association of macrothrombocytopenia (MTCP) and leukocyte inclusions: the May-Hegglin anomaly and Sebastian and Fechtner syndromes.

May-Hegglin anomaly

May-Hegglin anomaly


Input: These results indicate that PDE4A and PLAT may be susceptibility genes for schizophrenia in the Japanese population.

PLAT

schizophrenia

PLAT

schizophrenia


Input: Mendelian randomization suggested only minor, if any, causal effects of SHBG on lipid and metabolite measures and insulin resistance (n = 10, 895). Causal effect estimates on type 2 diabetes for 41, 439 cases and 103, 870 controls indicated a causative protective role of SHBG (OR = 0. 83 per 1-SD, 95% CI: 0. 76, 0. 91); however, effects were considerably weaker than observed in meta-analysis of prospective studies [hazard ratio (HR) = 0. 47 per 1-SD, 95% CI: 0. 41, 0. 53].

SHBG

insulin resistance


Input: As chromosome 18 is the locus of the ferrochelatase gene, we postulate that this chromosomal deletion led to reduced synthesis of the enzyme in the bone marrow clone, so causing the porphyria.

ferrochelatase

chromosomal deletion


Input: However, similar to affected individuals in this family, we identified a history of male and female infertility preceding the onset of pulmonary fibrosis in 11% of TERT and TR mutation carriers (five of 45).

TERT

female infertility


Input: Naltrexone dose-dependently reduced orphanin FQ/nociceptin-induced hyperphagia.

orphanin FQ

hyperphagia


Input: Leber congenital amaurosis (LCA) patients (n = 10) and one patient with a later-onset retinal degeneration (RD) and AIPL1 mutations were studied by ocular examination, retinal imaging, perimetry, full-field sensitivity testing, and pupillometry.

retinal degeneration


Input: Biochemical, MRI, and neurologic findings were inconsistent with a generalized defect of peroxisomal function and were unique.

MRI

neurologic findings


Input: In summary IL13 variants contribute to elevated levels of total serum IgE in young atopic children and are strongly associated with sensitization to food allergens, particularly to hen' s egg.

atopic


Input: Clinical severity was found to be correlated with the nature of the mutation, suggesting a distinct strategy for detection of PLP point mutations between severe PMD, mild PMD and SPG.

SPG

mild


Input: In this paper, we described 3 ATS-DL cases, 2 familial and 1 sporadic bearing a deletion encompassing the 5'-end of both the COL4A5 and COL4A6 genes, as identified by multiplex ligation-dependent probe amplification (MLPA) analysis.

sporadic


Input: This smoking-associated shift of the HPRT mutational spectrum, although not statistically significant, is consistent with the in vitro mutagenicity of benzo (a) pyrene (BaP), a prominent carcinogen of tobacco smoke, and with known differences in the TP53 mutational spectrum in lung tumors of smokers and nonsmokers.

HPRT

smoking


Input: MTP-493 G/T polymorphism may impact NASH by modulating postprandial lipemia and lipoprotein metabolism; homozygous GG carriers have a more atherogenic postprandial lipid profile than the other genotypes, independently of adipokines and insulin resistance.

MTP

insulin resistance


Input: In over two decades since the discovery of FMR1, only a single missense mutation (p. (Ile304Asn)) has been reported as causing fragile X syndrome.

fragile X syndrome

fragile X syndrome


Input: Expression of the inducible HSP70 gene in rat myogenic cells (H9c2) is markedly increased after relatively short periods of hypoxia as well as by heat shock.

hypoxia


Input: The expression of IGFBP1, IGFBP2, IGF2BP3, and HTRA1 genes in U87 glioma cells and its subline with ERN1 signaling enzyme loss of function, were analyzed by qPCR.

glioma


Input: Our results show significantly higher (p < 0. 001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue.

endometrioid adenocarcinoma


Input: Variant of the beta3-adrenergic receptor gene and coronary atherosclerosis in Japanese subjects.

coronary atherosclerosis


Input: These results suggest that methylation-related silencing of SFN occurs in both normal lung tissues and adenocarcinoma in situ, and that demethylation of the SFN promoter participates in the aberrant expression of SFN in invasive adenocarcinoma cells, independently of p53 alteration.

SFN

adenocarcinoma


Input: Based on our microarray data, RXR & #946;, like FABP7, is an adverse prognostic factor for breast cancer.

breast cancer

breast cancer


Input: The homologous human FLII gene encodes a 1269-residue protein with 58% amino acid sequence identity and is deleted in Smith-Magenis syndrome.

FLII

Smith-Magenis syndrome

FLII

Smith-Magenis syndrome


Input: Epidemiological data show that there are PIDs systematically associated with AID, such as immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), Omenn syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune lymphoproliferative syndrome (ALPS), and C1q deficiency, while strong associations are seen with a handful of other deficits.

AID

autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy


Input: We hypothesized that altered expression of DISC1 and/or its molecular partners (nuclear distribution element-like [NUDEL], fasciculation and elongation protein zeta-i [FEZ1], and lissencephaly 1 [LIS1]) may underlie its pathogenic role in schizophrenia and explain its genetic association.

lissencephaly 1


Input: The paradox is that analbuminemia is extremely rare (frequency & lt; 1 x 10 (6)); yet the virtual absence of albumin is tolerable despite its multiple functions.

albumin

analbuminemia

albumin

analbuminemia


Input: Niacin therapy attenuated hypertension, proteinuria, and tubulo-interstitial injury, reduced renal tissue lipids, CD36, ChREBP, LXR, ABCA-1, ABCG-1, and SR-B1 abundance and raised PPAR-alpha and L-FABP.

L-FABP

proteinuria


Input: In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich' s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system.

sideroblastic anemia


Input: DNA and RNA analysis of skin lesions revealed the presence of the PML/RAR alpha hybrid gene, which was not detected at the same time in bone marrow.

RAR

skin lesions


Input: Four days after 2', 3'-dideoxycytidine administration, rats had developed thermal allodynia as well as mechanical hyperalgesia and allodynia, which dose-dependently decreased after epidural injection of MDL 11, 939, a 5-HT2A receptor antagonist.

allodynia

allodynia


Input: The aim of the present study was to investigate the possible association of KCNJ11 E23K polymorphism with incidence of sulfonylurea-induced mild hypoglycemic events.

mild


Input: Ability of m-chloroperoxybenzoic acid to induce the ornithine decarboxylase marker of skin tumor promotion and inhibition of this response by gallotannins, oligomeric proanthocyanidins, and their monomeric units in mouse epidermis in vivo.

ornithine decarboxylase

skin tumor

ornithine decarboxylase

skin tumor


Input: 2) A normotensive control group (N-group) consisting of 732 normotensive students (110-124 SBP/60-74mmHg DBP) for whom faculty, age, sex, height, weight, and examination period were matched to the H-group as closely as possible.

DBP

height


Input: Because full length PEAII may elicit a host immune response, we tried to identify the minimal PEAII translocation motif and use this fragment in combination with an antibody and constitutively active granzyme B (ImmunoGrB) to kill HER2-positive tumor cells.

granzyme B

translocation


Input: Our findings reveal a novel association of autoantibodies with DR4 and with arthralgia/synovitis in IIM and raise the possibility of a genetically (DR4) determined citrullination of myositis autoantigens expressed in muscle and synovium.

myositis


Input: Here we describe the cloning of this receptor, designated P2Y12, and provide evidence that a patient with a bleeding disorder has a defect in this gene.

bleeding disorder

bleeding disorder


Input: Data from CN surrounding either HCCs or DN, and also nodule-in-nodule lesions, provide evidence supporting a CN--> DN--> HCC progression.

HCC

nodule


Input: We analysed several polymorphisms mainly in the promoter region of the inducible NO synthase (NOS2, iNOS) gene and investigated their associations with asthma and/or atopic phenotypes.

atopic


Input: When BRCA1/2 BCs were compared to triple-negative (TN) sporadic tumours of the studied DDR proteins, BARD1 (p < 0. 001), PARP1 (non-cleaved) (p < 0. 001), and P53 (p = 0. 002) remained significantly different in BRCA1/2 tumours compared with TN BC.

sporadic


Input: A subset of endometrial stromal sarcoma harbors t (10; 17) (q23; p13), which results in the genetic fusion between YWHAE and 1 of 2 highly homologous FAM22 family members-FAM22A or FAM22B.

endometrial stromal sarcoma


Input: To compare the levels of NKCC1, KCC2, OXSR1, STK39, WNK1, WNK3, and WNK4 transcripts in prefrontal cortex area 9 between subjects with schizophrenia and healthy comparison subjects.

schizophrenia

schizophrenia


Input: We recently reported that downregulated miR-130a in patients with Type 2 diabetes mellitus (DM) results in EPC dysfunction, including increased apoptosis, likely via its target runt-related transcription factor 3 (Runx3).

diabetes mellitus


Input: Compared to the difference between the caffeine sensitivity of Ca (2 +) release in FDB fibers from YS/+ and WT mice treated with SCR siRNA (EC (50): 1. 1 mM versus 4. 4 mM, respectively), caffeine sensitivity was normalized in FDB fibers from YS/+ mice following 2 (EC (50): 2. 8 mM) and 4 week (EC (50): 6. 6 mM) treatment with YS allele-specific siRNA.

SCR

caffeine


Input: Neutrophil numbers increased in all but two patients and in an extended urine cytokine/chemokine analysis (31 proteins), the chemoattractants IL-8 and GRO-α, RANTES, Eotaxin-1 and MCP-1, the T cell chemoattractant and antibacterial peptide IP-10, inflammatory regulators IL-1-α and sIL-1RA and the T lymphocyte/dendritic cell product sIL-2Rα were detected and variably increased, compared to sterile samples.

RANTES

sterile


Input: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

connexin 43

oculodentodigital syndrome

connexin 43

oculodentodigital syndrome


Input: With this point in mind, we sought to characterize Ct-OATP1B3 mRNA expression in colon and lung cancer tissues.

lung cancer

lung cancer


Input: The aim of the present study was to investigate by quantitative real-time polymerase chain reaction (PCR) the mRNA expression of NALP3, its effector molecule apoptosis associated speck-like protein (ASC), its putative antagonist NLRP2 (NLR family, PYD-containing protein 2), IL-1beta and IL-18 (i) in gingival tissues from patients with gingivitis (n = 10), chronic periodontitis (n = 18), generalized aggressive periodontitis (n = 20), as well as in healthy subjects (n = 20), (ii) in vitro in a human monocytic cell line (Mono-Mac-6), in response to P. gingivalis challenge for 6 h. The clinical data indicate that NALP3 and NLRP2, but not ASC, are expressed at significantly higher levels in the three forms of inflammatory periodontal disease compared to health.

aggressive periodontitis


Input: Nine genes (ACSL1, BIRC3, CLC, CREM, ELTD1, FGG, S100A9, THBD, and TPD52L1) were progressively and significantly upregulated from controls to nondysplastic UC to UC with neoplasia.

CLC

neoplasia


Input: This translocation has recently been characterized, revealing the rearrangement and fusion of the WT1 gene on chromosome 11 to the EWS gene on chromosome 22.

EWS gene

translocation


Input: No associations were also observed for related plasma markers; high-molecular weight (HMW) adiponectin (P = 0. 510), high-sensitive C-reactive protein (P = 0. 788), resistin (P = 0. 937) and homeostasis of minimal assessment of insulin resistance (P = 0. 634).

C-reactive protein

insulin resistance


Input: LOX secreted by hypoxic breast tumor cells accumulates at premetastatic sites, crosslinks collagen IV in the basement membrane, and is essential for CD11b + myeloid cell recruitment.

LOX

hypoxic


Input: The H63D and C282Y polymorphisms in the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron homeostasis.

HFE gene

sporadic


Input: Of these, the role of H-Cad in tumorigenesis was further evaluated.

H-Cad

tumorigenesis


Input: This report describes a gene, MCL1, that we isolated from the ML-1 human myeloid leukemia cell line during phorbol ester-induced differentiation along the monocyte/macrophage pathway.

myeloid leukemia


Input: Overexpression of ErbB2 increased the expression of glycolysis-regulating molecules lactate dehydrogenase A (LDH-A) and heat shock factor 1 (HSF1).

lactate dehydrogenase A

shock


Input: We hypothesised that the polymorphisms of the genes encoding for beta1-and the beta2-adrenoceptors may have a role in the pathogenesis of heart failure (HF).

heart failure


Input: When given to sensitized mice before challenge, AHR and eosinophilia were reduced by rSP-D in a dose-dependent manner but not by mutant rSP-D. rSP-D administration resulted in increased levels of interleukin (IL)-10, IL-12, and IFN-gamma in bronchoalveolar lavage fluid and reduced goblet cell hyperplasia.

IFN

hyperplasia


Input: There have also been a plenty of active discussion on the roles of RHOA in tumorigenesis, primarily based on gain-and loss-of-function experiments.

RHOA

tumorigenesis


Input: The purpose of this study was to determine the prevalence of substance use disorders (substance abuse or substance dependence: SA/SD) in a large sample of Bipolar Type I (BPI) patients drawn from the Costa Rican population and to describe the effects of SA/SD on the course of their bipolar disorder.

BPI

substance use disorders


Input: Resveratrol, which suppressed the PGE (2) generation in both non-ulcerated and ulcerated gastric mucosa, prolonged ulcer healing and this was accompanied by the fall in the GBF at the ulcer margin and a significant increase in plasma IL-1beta and TNFalpha levels.

GBF

fall


Input: EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.

major depression

major depression


Input: The prenatal diagnosis (PND) of severe hereditary skin diseases started in the early 1980s using fetal skin biopsy techniques based on ultrastructural and immunohistochemical abnormalities of the fetal skin.

PND

skin diseases


Input: Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations.

NNH

NNH


Input: These results suggested that an abundant expression of seprase in colorectal cancer tissue is associated with lymph node metastasis.

seprase

lymph node metastasis


Input: Autosomal dominant familial AD (FAD), linked to mutations in presenilin (PS1 and PS2) genes or the amyloid precursor protein (APP) gene, shows brain abnormalities (e. g., neurofibrillary tangles, deposits of.-amyloid A., and death of subsets of neurons) similar to those that occur in sporadic AD, the risk of which is enhanced by the presence of one or two copies of apolipoprotein E4 (apoE4) alleles.

FAD

sporadic


Input: Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

retinoblastoma

retinoblastoma


Input: Variant NOD2/CARD15 allele was associated with an increased risk for CD (OR (het) = 1. 71, 95% CI = 1. 12-2. 6, P = 0. 0001, OR (two-risk alleles) = 25. 2, 95% CI = 4. 37-8, P < 0. 0001), early disease onset (carrier: 26. 4 years vs non-carrier: 29. 8 years, P = 0. 0006), ileal disease (81. 9% vs 69. 5%, OR = 1. 99, 95% CI = 1. 29-3. 08, P = 0. 02, presence of NOD2/CARD15 and TLR4: 86. 7% vs 64. 8%), stricturing behavior (OR = 1. 69, 95% CI = 1. 13-2. 55, P = 0. 026) and increased need for resection (OR = 1. 71, 95% CI: 1. 13-2. 62, P = 0. 01), but not with duration, extra-intestinal manifestations, familial disease or smoking.

smoking


Input: This study, the first to evaluate an infectivity-enhanced CRAd in human cancer, shows the feasibility, safety, potential antitumor response, and biological activity of this approach in ovarian cancer.

CRAd

cancer


Input: Nociceptin, an endogenous ligand for the opioid receptor-like (ORL-1) G-protein coupled receptor, has been found to inhibit the local axon reflex-mediated neurogenic inflammation by suppressing the release of vasoactive neuropeptides from sensory afferent terminals.

Nociceptin

neurogenic inflammation

Nociceptin

neurogenic inflammation


Input: These data directly demonstrate the cooperative roles of these Fbw7 and p53 pathways in restraining cyclin E activity and its associated genome instability.

cyclin E

genome instability


Input: Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

drop attacks


Input: Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.

psychosis

psychosis


Input: Perhaps most importantly, we found that more than one-third of these carcinomas have potentially targetable genetic alterations, including mutations in BRCA2, PALB2, ATM, BAP1, BRAF and JAK1.

carcinomas


Input: The present study was aimed at describing expression of innate immunity genes (NOD2, RIP2, & #945;-defensins HD5 and HD6) in inflamed colon and in ileum of children with ulcerative colitis.

ulcerative colitis

ulcerative colitis


Input: The enhanced proteinuria, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1 and STAT3, and reduced p27 (kip1) expression were found on day 4 after nephritis induction.

nephritis


Input: We found that FTO in men and MMP2 in women are associated with weight gain over a 10-year follow-up period.

weight gain

weight gain


Input: To the best of our knowledge, the ABCA4 c. 5693G & gt; A (p. R1898H) mutation has not been reported in FEVR, and the LRP5 & #160; c. 260T & gt; G (p. I87S) mutation is a novel mutation.

FEVR

FEVR


Input: We characterized the roles of SnoN in miRNA transcriptional regulation and its effects on cell proliferation using esophageal squamous cell carcinoma (ESCC) cells.

SnoN

esophageal squamous cell carcinoma


Input: The expression of AGO2 in HCC cells was knocked down with siRNA and restored using recombinant adenovirus expressing Ago2.

HCC

adenovirus


Input: Using quantitative reverse transcriptase-polymerase chain reaction, we found that the highly polymorphic HLA-DRB1 and nonpolymorphic-DRA mRNA levels were significantly decreased in whole blood from patients with septic shock compared with healthy volunteer both on days 1-3 and 4-10 after the onset of shock.

shock


Input: This presence was clearly associated with a greater exposure to positive viremia and a poorer CD4 trend over time compared to R5, independent of type and duration of antiretroviral treatment.

viremia


Input: Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

EOGT

Adams-Oliver syndrome

EOGT

Adams-Oliver syndrome


Input: The local balance between MMPs and TIMPs is believed to play a major role in extracellular matrix (ECM) remodeling during development and in diseases such as cancer and arthritis.

ECM

arthritis


Input: Using quantitative proteomic techniques together with microarray chips, we have established comprehensive proteome and transcriptome profiles of the metastatic gastric cancer TMC-1 cells and the noninvasive gastric cancer SC-M1 cell.

TMC

gastric cancer


Input: We have assessed TNF (-/-), TNF-R1 (-/-) and TNF-R2 (-/-) mice against C57BL/6 wild-type (WT) mice from 12 weeks of age in order to evaluate measures of spatial memory and learning in the Barnes maze (BM) and Y-maze, as well as other behaviours such as exploration, social interaction, anxiety and depression-like behaviour in a battery of tests.

depression

depression


Input: The aim of our study is to identify EBP mutation in a unique case of Conradi-H & #252; nermann-Happle syndrome with rare psoriasiform lesions.

EBP

Happle syndrome

EBP

Happle syndrome


Input: Many of these silent varieties (beta + thalassemia due to the-101 C--> T mutation; alpha + thalassemia from a deletion or point mutation of an alpha gene; alpha alpha alpha triplication) are quite frequent in the overall group of thalassemias.

alpha gene

beta + thalassemia


Input: Very recently, the CYP1B1 codon 432 polymorphism (CYP1B1 * 3) has been identified as a susceptibility factor in smoking-related head-and-neck squamous cell cancer.

smoking


Input: In this study, we found some evidence for a gene-gene interaction between the XRCC1 codon 194 and XRCC3 codon 241 polymorphisms (P = 0. 09) and some support for a possible gene-gene-smoking three-way interaction (P = 0. 08).

smoking


Input: We show for the first time that antibody blockade of PVR or PVRL2 on AML cell lines or primary AML cells or TIGIT blockade on immune cells increases the anti-leukemic effects mediated by PBMCs or purified CD3 & lt; sup & gt; + & lt;/sup & gt; cells in vitro.

PVR

AML

PVR

AML


Input: A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Lenz microphthalmia syndrome

Lenz microphthalmia syndrome


Input: Numerous GWAS linked loci including BST1 (bone marrow stromal cell antigen 1), PARK16 (parkinson disease 16 susceptibility), GAK (cyclin G associated kinase), and HLA (human leukocyte antigen) have also been identified.

bone marrow stromal cell antigen 1

parkinson disease 16


Input: We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome.

Allan-Herndon-Dudley Syndrome

Allan-Herndon-Dudley Syndrome


Input: Analysis of 10 CRC tissue specimens compared with their normal adjacent tissues revealed that ATP2A2, ELAVL4, hTERT, KCTD2, MUC1, OLFM4, S100B, and TM4SF4 genes were upregulated (gene expression ratio of cancer tissue to paired normal tissue was > 2) by microarray and bioinformatics analysis.

cancer


Input: Nucleobindin 2 (NUCB2) has been demonstrated to play critical roles in tumorigenesis and tumor development of breast cancer.

tumorigenesis


Input: An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis.

proto-oncogene BCL3

atherosclerosis

proto-oncogene BCL3

atherosclerosis


Input: [Study on polymorphism of UCP2 gene in Chengdu simple obesity and normal-weight people and a preliminary investigation of its relationship with gut bacteria].

UCP2 gene

weight


Input: After adjustment for age, sex, waist-hip ratio, and mean blood pressure both AdipoR1 and AdipoR2 mRNA remained independent determinants of PWV (R (2) = 0. 35 and R (2) = 0. 57, P < 0. 05).

mean blood pressure


Input: We compared the number, size and histopathological features of the intestinal tumors in the Fabpl (4xat-132) ephrin-A1/Apc (min/+) compound mice with those of the Apc (min/+) mice.

Fabpl

intestinal tumors


Input: In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included.

CORS

cerebello-oculo-renal syndrome


Input: The distribution of neoplastic cells in the structure of the bone marrow allowed IVL to be distinguished from bone marrow invasions due to other types of lymphoma.

IVL

lymphoma


Input: The present study is to replicate the association of OCTN1 rs1050152 and examine another variant rs272879 with familial and sporadic inflammatory bowel disease (IBD) in a cohort from central Pennsylvania, USA.

sporadic


Input: These data implicate MAL as a commonly altered gene in breast cancer with implications for response to chemotherapy.

MAL

breast cancer

MAL

breast cancer


Input: Based on an extensive thermodynamic analysis of the stability of apo-dimer and apo-monomer forms of these mutants, we classify the mutations into the following groups: 70 out of 75 mutations in SOD1 lead to (i) decreased dimer stability, and/or (ii) increased dimer dissociation, compared to wild type, and four mutations lead to (iii) decreased monomer stability compared to wild type.

dissociation


Input: Furthermore, VAP-1 blockade significantly reduced the expression of inflammation-associated molecules such as tumor necrosis factor (TNF)-alpha, monocyte chemoattractant protein (MCP)-1, and intercellular adhesion molecule (ICAM)-1.

MCP

inflammation


Input: NOD2 downregulates colonic inflammation by IRF4-mediated inhibition of K63-linked polyubiquitination of RICK and TRAF6.

inflammation


Input: The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease.

somatic mutation


Input: To address this question, we examined bone marrow biopsy specimens in a cohort of 102 patients with mastocytosis using an antibody against HDC.

HDC

mastocytosis


Input: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding protein 2 (STXBP2) alias MUNC18-2.

immune disorder


Input: Meta-analysis was performed for 17 genetic polymorphisms: apolipoprotein E (ε2, ε3, ε4), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), coagulation factor II (rs1799963]), coagulation factor V (rs6025), coagulation factor VII (rs5742910/rs6046), interleukin-6 (IL-6) (rs1800795), endothelial nitric oxide (rs1800779/rs1799983/rs3918226), fibrinogen β-polypeptide (rs1800790), plasminogen activator inhibitor 1 (rs1799768/rs7242), TNF-β lymphotoxin α precursor (rs1041981), adducin 1 (α) (rs4961), ADRB2 (rs1042714), and tumour necrosis factor α (rs1800629).

apolipoprotein E

fibrinogen


Input: As such, we aimed to determine the role of BRCA2 mutations as a risk factor for sporadic and familial pancreatic cancer in Korean patients.

sporadic


Input: The effect of resistance patterns or MBL production on clinical outcomes was investigated by using multivariate Cox regression models.

MBL

regression


Input: Therefore, there was no clear relation between genotype and phenotype, and the loss of the distal copy of CDY1 does not seem to worsen the phenotype of infertile patients with deletion of the DAZ gene cluster.

DAZ

infertile


Input: Higher CRP was additionally associated with lower skeletal muscle density, indicative of greater intramuscular AT (r =-0. 10, P < 0. 05), hyperinsulinemia (r = 0. 12, P < 0. 05), and increased homeostasis model assessment of insulin resistance (HOMA-IR) (r = 0. 17, P < 0. 01).

CRP

insulin resistance


Input: Genetically, the tumor shows a characteristic 11; 22 translocation, involving the EWS gene on chromosome 22 and the WT1gene on chromosome 11 to produce an EWS-WT1 fusion gene which generates a chimeric protein functioning as a novel transcription factor that activates expression of target genes such as PDGF-A.

EWS gene

translocation


Input: The etiology of major depression remains unknown, but dysfunction of serotonergic signaling has long been implicated in the pathophysiology of this disorder. p11 is an S100 family member recently identified as a serotonin 1B [5-hydroxytryptamine 1B (5-HT (1B))] and serotonin 4 (5-HT (4)) receptor-binding protein.

major depression

major depression


Input: Although enlargement of the intercellular space is one of the histological characteristics of epithelial dysplasia of oral mucosa, the mode of expression of perlecan is poorly understood in these epithelial lesions.

perlecan

enlargement


Input: In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization.

HCC

translocation


Input: We have recently isolated TSC-22 (transforming growth factor beta-stimulated clone 22) cDNA as a new anticancer drug (Vesnarinone)-inducible gene in a human salivary gland cancer cell line, TYS.

clone 22

salivary gland cancer


Input: Collectively, our data suggest that obesity-associated factors such as NEFA and lipopolysaccharide (LPS) probably adopt this vicious cycle to promote inflammation and insulin resistance.

NEFA

insulin resistance


Input: Both proteins are robustly expressed in the SON in VP-and OT-containing neurones, but the abundance of neither changes with dehydration.

SON

dehydration


Input: Detection of TMPRSS2 gene deletions and translocations in carcinoma, intraepithelial neoplasia, and normal epithelium of the prostate by direct fluorescence in situ hybridization.

TMPRSS2 gene

intraepithelial neoplasia


Input: Evidence of a significant association between the presence of a Met allele and violence was found such that men' s violence risk increased by approximately 50% for those with at least one Met allele compared with homozygous Val individuals (DOR = 1. 45; 95% CI = 1. 05-2. 00; z = 2. 37, p = 0. 02).

DOR

violence


Input: In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the condition.

COMP

mild


Input: A significant correlation was observed between SRp30c and the GRbeta/GRalpha ratio in control subjects, but not in mood disorder patients.

mood disorder


Input: Using this system we focused on three postsynaptic proteins DISC1, TNIK and PSD-93/DLG2 each of which is encoded by a schizophrenia susceptibility gene.

TNIK

schizophrenia

TNIK

schizophrenia


Input: A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA.

TGFA

tooth agenesis


Input: Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of embryonal tumors, and here we show that their cells display severe SAC impairment.

embryonal tumors

embryonal tumors


Input: Recent studies showed that the granulocyte colony-stimulating factor (G-CSF) exerts beneficial effects on heart, liver and kidney injuries induced by different pathological conditions.

granulocyte colony-stimulating factor

liver

granulocyte colony-stimulating factor

liver


Input: In Jewish-Israeli women with sporadic and familial ovarian cancer, p53 or WAF1 polymorphisms do not seem to affect the phenotype.

sporadic


Input: Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.

dysrhythmia

dysrhythmia


Input: These findings indicate that in hypopharyngeal squamous cell carcinoma (HSCC), hypermethylation and down-regulation of death-associated protein kinase-1 (DAPk1) are common events, which are associated with a poor prognosis.

death-associated protein

hypopharyngeal squamous cell carcinoma


Input: Our results indicate that (i) CTGF is abundantly present in MDA-231 cells in vitro and in vivo, (ii) its secretion is up-regulated by hypoxia, and (iii) its gene expression is enhanced in MDA-231 cells cultured under hypoxic conditions.

CTGF

hypoxic


Input: Ecotopic viral integration site 1 (EVI1) regulates multiple cellular processes important for cancer and is a synergistic partner for FOS protein in invasive tumors.

viral integration site 1

cancer


Input: Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: One hundred and twenty unselected patients who underwent curative resection for sporadic colorectal cancer in a three-year period were evaluated for microsatellite instability (MSI) using six microsatellite markers, and for the presence of Fhit and mismatch repair (MMR) proteins (Mlh1 and Msh2) by means of immunostaining.

sporadic


Input: Here we show that early in adenovirus infection, 4E-BP1 and its related protein 4E-BP2 are phosphorylated and hence inactivated.

adenovirus infection


Input: Cyp 7-/-mice lack a functional cholesterol 7alpha-hydroxylase enzyme and develop cholestasis before up-regulation of 27-hydroxycholesterol 7alpha-hydroxylase activity.

Cyp 7

cholestasis

Cyp 7

cholestasis


Input: Our recent studies established essential and distinct roles for RalA and RalB small GTPase activation in K-Ras mutant pancreatic ductal adenocarcinoma (PDAC) cell line tumorigencity, invasion, and metastasis.

RalB

metastasis


Input: We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma.

glioblastoma

glioblastoma


Input: BRCA1 and BRCA2 mRNA expression in sporadic breast cancers was quantified by a real-time reverse transcriptase-polymerase chain reaction (RT-PCR), and the relationship of their expression with various clinicopathological factors was studied.

sporadic


Input: A trend of positive correlation was observed between AQP1-immunopositivity and increasing grade, higher MIB-1LI, increasing contrast-enhancement and more perilesional edema, and elevated MVD with raised AQP1: MVD ratio.

MIB

edema


Input: We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients.

sitosterolemia

sitosterolemia


Input: Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.

XPD gene

adenovirus


Input: Patients with myeloproliferative neoplasms (MPN) have an increased risk for thrombosis and bleeding and show a defect in adenosine diphosphate (ADP)-induced platelet aggregation.

ADP

bleeding


Input: To investigate, in lymphocytes from HIV-1-infected individuals, the phenotypic expression of various adhesion co-or counter-receptors [lymphocyte function-associated antigen (LFA)-3, LFA-1 and intercellular adhesion molecule (ICAM)-1] involved in providing the co-stimulatory signal through the phospholipase C-gamma pathway in relation to inositol polyphosphate metabolism.

adhesion


Input: The apoptosis of hepatocytes and fibrosis were suppressed by osm gene therapy.

osm gene

fibrosis


Input: These data suggest that CDK4 is a critical downstream target of MEN1-dependent tumor suppression and is required for tumorigenic proliferation in the pituitary and pancreatic islet, whereas CDK2 is dispensable for tumorigenesis in these neuroendocrine cell types.

tumorigenesis


Input: The translocation occurred in intron 13 of NUP98 and intron 7 of TOP1, as in the three previously reported cases.

translocation


Input: To study the contribution of mitochondrial defects to Alzheimer disease and schizophrenia, cytochrome-c oxidase (COX) activity and levels of the mtDNA4977 deletion in postmortem brain tissue specimens of patients were compared with those of asymptomatic age-matched controls.

COX

asymptomatic


Input: A whole genome expression analysis of peripheral blood mononuclear cells yielded 12 protein-coding genes (ADM, APBB3, CD160, CFD, CITED2, CTSZ, IER5, NFKBIZ, NR4A2, NUCKS1, SERTAD1, TNF) that were differentially expressed between 29 unmedicated depressed patients with a mood disorder (8 bipolar disorder, 21 major depressive disorder) and 24 healthy controls (HCs).

TNF

bipolar disorder

TNF

bipolar disorder


Input: Acute pharmacological inhibition of the EGF receptor (EGFR) in adult animals altered acute ethanol sensitivity in both flies and mice and reduced ethanol consumption in a preclinical rat model of alcoholism.

EGF

alcoholism

EGF

alcoholism


Input: Oncogenes src, fps, and mos were not expressed in any of the tumors tested but oncogene myc was transcribed in most of the tumors and myc was over-expressed in 3 tumors passaged in nude mice (Ewing sarcoma, large intestine carcinoma and kidney carcinoma) and in primary fibrous histiocytoma.

oncogene myc

fibrous histiocytoma


Input: The results suggest that the anti-tic properties of donepezil, nicotine and haloperidol in this paradigm might be due to antagonism of cortical 5-HT2A receptors.

tic


Input: We conducted a case-control association study in 551 ischemic stroke patients and 530 controls to assess the role of NOS1 and NOS3 variants in stroke susceptibility.

stroke


Input: Nine of 20 colorectal cancer patients, 1 of 13 renal cell carcinoma patients, and 2 of 17 lymphoma patients had a spontaneous CD8 T-cell response toward at least 1 of 6 PAX2 peptide pools.

lymphoma


Input: We measured gremlin 1 (GREM1) gene expression in GC' s from infertile women < 38 years undergoing in vitro fertilization in the context of DOR.

infertile


Input: Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism.

skeletal dysplasia


Input: We describe three mutations of the red-cell anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal tubular acidosis (dRTA) in families from Malaysia and Papua NewGuinea: Gly (701)--> Asp (G701D), Ala (858)--> Asp (A858D) and deletion of Val (850) (DeltaV850).

acidosis


Input: The lack of a direct association between SELE rs5355C > T gene polymorphism, serum PAPP-A level and IMT suggests that their hypothesized association with carotid atherosclerosis might reflect an indirect mechanism of SELE rs5355C > T gene polymorphism and serum PAPP-A with cardiovascular risk factors such as blood pressure and HDL-C rather than a direct effect on the vasculature.

T gene

blood pressure


Input: It also led to an elevated expression of heat shock protein 70 (HSP70) and transcription factor Sp1, and increased the binding of transcription factors Sp1 and heat shock transcription factor 1 (HSF1) to the MICA/B promoter, resulting in increased expression of MICA and MICB.

shock


Input: The variable number tandem repeat (VNTR) polymorphism 5-repeat allele of the circadian gene PERIOD3 (PER3 (5/5)) has been associated with cognitive decline at a specific circadian phase in response to a night of total sleep deprivation (TSD), relative to the 4-repeat allele (PER3 (4/4)).

sleep deprivation


Input: We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A.

epileptic encephalopathy

epileptic encephalopathy


Input: Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors.

sporadic


Input: In the present review, we update these topics and discuss the concept of targeting peripheral MOR pathway for the treatment of insulin resistance.

MOR

insulin resistance


Input: Hardy-Weinberg equilibrium test, Person chis-square test, linkage disequilibrium analysis, and logistic analysis were performed by SAS 9. 1 software to determine the association between polymorphisms of TRPV1 and susceptibility of childhood asthma.

SAS

childhood asthma


Input: Anti-beta (2)-GPI antibody binding has been shown to induce nuclear factor-kappa B (NF-kappa B) translocation leading to a proinflammatory EC phenotype similar to that elicited by interaction with microbial products (lipopolysaccharide [LPS]) and proinflammatory cytokines (interleukin 1 beta [IL-1 beta], tumor necrosis factor alpha [TNF-alpha]).

TNF-alpha

translocation


Input: A severely mentally and motor retarded girl with monosomy 3pter--p25 and trisomy 8q24-qter due to a familial reciprocal translocation t (3; 8) (p25; q24): We report a familial translocation t (3; 8) in a three generation family that includes a severely retarded 9-year-old girl with intrauterine and postnatal growth retardation, microcephaly, capillary hemangiomas of the forehead and perioral region, synophrys, ptosis, long philtrum, high arched palate, micrognathia, malformed ears, clinodactyly, hypotonia, mental and motor retardation.

hypotonia


Input: Screening for the APP 717 Val--> Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer' s disease (FAD), 16 sporadic cases of Alzheimer' s disease and five patients with Down' s syndrome (DS) failed to identify further cases of the mutation.

FAD

sporadic


Input: A variant in the LRRFIP1 gene is associated with adiposity and inflammation.

LRRFIP1 gene

inflammation


Input: We recently identified that MSH2, a key DNA mismatch repair (MMR) protein integral to the suppression of tumorigenesis, is an NPM-ALK-interacting protein.

MMR

tumorigenesis


Input: While the deletions from the families nearly spanned the WS region, none had a deletion of FKBP6 or GTF2I, suggesting that the mental retardation seen in WS is associated with deletion of either the centromeric and/or telomeric portions of the region.

mental retardation


Input: We evaluated six cases of hidradenocarcinoma histologically and immunohistochemically using antibodies to gross cystic disease fluid protein-15 (GCDFP-15), carcino-embryonic antigen (CEA), epithelial membrane antigen (EMA), S-100 protein, keratin AE1/3, cytokeratin 5/6, p53, bcl-1, bcl-2, and Ki67.

epithelial membrane antigen

hidradenocarcinoma


Input: We finally demonstrate that the family prototype, Ets-1, regulates the family members Elf-1, Elf-2, Elk-1, Etv-5 and Spi-1 in PC3 prostate cancer cells.

prostate cancer


Input: To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair.

LIPH

woolly hair

LIPH

woolly hair


Input: Our findings have important implications for genetic counseling to monilethrix patients and families, and suggest that DSG4-associated hair disorders may be more common than previously thought.

monilethrix

monilethrix


Input: Significant association of the TGF-beta (codon 25) GG genotype with hyperuricemia (P = 0. 0013) and dyslipoproteinemia (P = 0. 0171) was found.

TGF-beta

hyperuricemia


Input: Urinary biomarkers in hexachloro-1: 3-butadiene-induced acute kidney injury in the female Hanover Wistar rat; correlation of & #945;-glutathione S-transferase, albumin and kidney injury molecule-1 with histopathology and gene expression.

albumin

acute kidney injury

albumin

acute kidney injury


Input: Thus, IL28B testing and closer follow-up of HTLV-1 asymptomatic CT/TT carriers is warranted.

asymptomatic


Input: However, TBP-2 mRNA levels in the endometrium were lower, and the TRX to TBP-2 ratio was higher in patients with endometriosis than in the control group.

TBP

endometriosis


Input: Targeting S6K1 and/or Arg-II may decelerate vascular aging and age-associated cardiovascular disease development.

aging


Input: Siah-1 binds the brain-enriched E2 ubiquitin-conjugating enzyme UbcH8 and facilitates mono-and di-ubiquitination of alpha-synuclein in vivo.

alpha-synuclein

mono


Input: In contrast, hypoxia induced LOX-transcription, and interestingly, hypoxia-dependent LOX-secretion could be counteracted by patupilone.

LOX

hypoxia


Input: Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.

progressive familial heart block

progressive familial heart block


Input: The authors describe the clinical course over 6 years of care at their institution and diagnostic studies including electroencephalogram (EEG), brain magnetic resonance imaging (MRI), serum and cerebrospinal fluid analyses, skeletal muscle biopsy histology, and autopsy gross and histologic findings, which include features shared with Alpers-Huttenlocher syndrome, Leigh syndrome, and a previously published case of FARS2 mutation associated infantile onset disease.

Leigh syndrome

Leigh syndrome


Input: Considering the significantly high cost of determining the mutational status of TET2 in patient samples by using conventional sequencing methods and sometimes the lack of regular use of SNP/aCGH array methodologies, FISH for the detection of TET2 abnormalities may become a potentially useful clinical tool.

abnormalities


Input: (i) To characterize the polymorphism of arginase 1 (ARG1), a new candidate gene in coronary heart disease (CHD), in the Algerian population; (ii) To evaluate the effect of common ARG1 single nucleotide polymorphisms (SNPs) on blood pressure (BP) values; and (iii) To compare the data with those previously obtained in French populations.

blood pressure


Input: Thus, GAL and its receptor GALR3 are differentially methylated and expressed in brains of MDD subjects in a region-and sex-specific manner.

GAL

MDD

GAL

MDD


Input: In all participants, ApoE gene genotype was determined and spinal bone mineral density (BMD) as well as biochemical bone markers were measured.

ApoE gene

bone mineral density


Input: This review focuses on the roles of the APC and MMR genes in tumor development and the work that has been done to relate different variants in each gene to functional aberrations and ultimately tumorigenesis.

MMR

tumorigenesis


Input: Our results suggest that NPS receptors may be an important target for drug abuse research and treatment and that CRF (1) mediates the cocaine-seeking and locomotor stimulant effects of NPS, but not its effects on anxiety-like behavior.

NPS

anxiety

NPS

anxiety


Input: Based on the HD OCT findings, we hypothesize that early changes in vitelliform macular dystrophy involve the layer between the RPE and the IS/OS interface, first with accumulation of material beneath the sensory retina, and then with disruption and attenuation of IS and OS; late changes seem to affect the RPE, which undergoes hypertrophy, disruption, and attenuation.

OCT

hypertrophy


Input: Taken together, our results suggest an important role of hypoxia in modulating the APP processing by facilitating both beta-and gamma-cleavage which may result in a significant increase of Abeta generation.

APP

hypoxia


Input: Overexpression of DJ-1 in normal endometrial epithelial cells increases the adhesion on collagen type IV.

adhesion


Input: The decrease in systolic blood pressure and diastolic blood pressure after six weeks of treatment of the patients carrying TT genotype (SBP = 26 ± 17. 4 mmHg, DBP = 14. 83 ± 7. 6 mmHg) were greater than the groups carrying MT (SBP = 3. 0 ± 7. 8 mmHg, DBP = 6. 2 ± 3. 0 mmHg) and MM genotypes (SBP = 1. 2 ± 0. 8 mmHg, DBP = 0. 10 ± 12. 1 mm Hg.

DBP

systolic blood pressure


Input: Survival analysis showed that HLA-DQB1 * 06 allele was a protective factor and HLA-DRB1 * 08 allele was a risk factor for affecting pneumoconiosis latent period.

pneumoconiosis


Input: We examined the effect of a history of asthma/atopy among 132 lung cancer cases (of which 72% were adenocarcinomas) and 163 controls, all of whom were non-smoking Chinese women, in combination with a single nucleotide polymorphism (-634C/G) in the interleukin-6 (IL-6) gene which regulates secretion of a pro-inflammatory cytokine found to be predominant in lung tumour tissue.

smoking


Input: We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.

HCC

chronic hepatitis


Input: Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

May-Hegglin anomaly

May-Hegglin anomaly