Input: The expression of genes encoding for COX-2, MPO, iNOS, and sPLA2-IIA in patients with recurrent depressive disorder.

recurrent depressive disorder

recurrent depressive disorder


Input: Our results based on the largest survey to date raise the possibility that IL-21 signaling in FL cells, rather than being tumor suppressive, supports tumor progression and that therapeutic benefit could be realized by blocking IL-21R instead of stimulating it.

tumor progression


Input: Our findings indicate that modulation of brain noradrenergic systems rescues the depression-related phenotype in En2 & #8722;/& #8722; mice and suggest new roles for NE in the pathophysiology of the social and cognitive deficits seen in neuropsychiatric disorders such as autism or schizophrenia.

schizophrenia

schizophrenia


Input: In addition, a significant association was observed of rs6007897 and rs4044210 of CELSR1 with large artery atherosclerosis (LAA), a sub-type of IS (p < 0. 01).

atherosclerosis


Input: We can conclude that the frequency of germline and somatic p53 mutations in sporadic childhood brain tumors is very low, probably less than 1%, and there is no need to screen these patients routinely for their germline p53 status.

sporadic


Input: Expression of the adhesion molecules ICAM-1, VCAM-1, LFA-1 and VLA-4 in the skin is modulated in progressing stages of chronic venous insufficiency.

adhesion


Input: We examined the first 14 exons of the APC gene in 46 polyposis coli patients.

APC

polyposis coli

APC

polyposis coli


Input: Meta-analyses showed that the overall association for NAT2 was robust (p < 0. 0001), and case-only meta-analyses provided support for an interaction between NAT2 and smoking (p for interaction 0. 009).

smoking


Input: A case of clonal acute natural killer (NK) cell leukemia with an unusual morphology (agranular) and unique phenotype (CD3-, CD56 +, CD4 +, CD15 +) is presented.

leukemia


Input: A small number of studies have demonstrated association of single nucleotide polymorphisms within LPL and indirect or surrogate measures of insulin resistance, largely based on glucose and insulin values obtained in the fasting state or during an oral glucose tolerance test.

LPL

insulin resistance


Input: In this study, we investigated whether selected infertile patients affected by different testiculopathies caused by DAZ deletions retained CDY1 and if a genotype-phenotype relation could be demonstrated.

DAZ

infertile


Input: However, use of the 11-SNP assay resulted in a substantial decrease in sample size needs to detect a previously reported NAT2-smoking interaction for bladder cancer: 1, 121 cases instead of 1, 444 cases, assuming a 1: 1 case-control ratio.

smoking


Input: Of note, ANK3 was previously reported to be overexpressed in fibroblasts from patients with Hutchinson-Gilford progeria syndrome, a form of accelerated aging.

Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome


Input: Tat-biliverdin reductase A inhibits inflammatory response by regulation of MAPK and NF-κB pathways in Raw 264. 7 cells and edema mouse model.

NF-κB

edema


Input: Our data suggest that leukemia cell-specific memory CD4 and CD8 T cells are present in vivo of patients with CLL and that several leukemia cell-associated antigens/epitopes are recognized by the patients' immune system, indicating that whole leukemia cells might be of preference for vaccine development.

leukemia


Input: Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.

tissue factor

thrombosis

tissue factor

thrombosis


Input: Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.

EI

EI


Input: Moreover, we recently reported that FOXF1 expression is preferentially silenced in colorectal cancer cell lines with inactive p53 and knockdown of FOXF1 caused genomic instability in FOXF1-expressing colorectal cancer cells with a defect in the p53-p21 (WAF1) checkpoint, suggesting that FOXF1 plays a key role in colorectal tumorigenesis.

genomic instability


Input: In hypercholesterolemic apolipoprotein E-deficient mice, expression of FXR, but not Y67F-FXR, ameliorated atherosclerosis, whereas Src down-regulation exacerbated it.

FXR

atherosclerosis

FXR

atherosclerosis


Input: In NAFLD patients with advanced disease and inflammation, the expression of miRNA 10b is significantly downregulated, while PEPCK mRNA is upregulated; KLF6 mRNA expression also correlates with TRB3 as well as PEPCK gene expression.

inflammation


Input: The IL28B minor allele was associated with lower inflammatory activity and less progressed fibrosis of the liver; however, it constituted a risk factor for younger-age onset of HCC in CHC patients.

HCC

fibrosis


Input: CD11c expression was positively associated with viral load.

viral load


Input: Our results suggest that BRCA1 and BRCA2 may be sufficient to explain the majority of familial ovarian cancer and that families without mutations can be explained by sensitivity of mutation testing and chance clusters of sporadic cases.

sporadic


Input: With this in mind, researchers suggested the involvement of NPY as well as the Y (1) and Y (2) receptors in affective disorders.

NPY

affective disorders

NPY

affective disorders


Input: We further found that miR-382 directly regulates the expression of two genes, FGFR1 and SPRY4, which are downregulated in both the cultured olfactory cells and LCM-OE derived from schizophrenia patients.

schizophrenia

schizophrenia


Input: BACKGROUND AND AIM: Ulcerative colitis (UC) and Crohn' s disease (CD) are two major phenotypes of inflammatory bowel disease (IBD) that present with inflammation of the colon or the entire gastrointestinal tract, respectively.

AIM

inflammation


Input: Cyclooxygenase (COX)-2, an inducible enzyme that catalyzes the conversion of arachidonic acid to prostaglandins and other eicosanoids, is also induced by hypoxia.

COX

hypoxia


Input: Thus, cystatin C has a protective role in Alzheimer' s disease pathogenesis, and modulation of cystatin C concentrations may have therapeutic implications for the disease.

cystatin C

Alzheimer' s disease

cystatin C

Alzheimer' s disease


Input: Mutations in the PIK3CA gene have recently been reported in different human neoplasms, including breast cancer.

breast cancer

breast cancer


Input: In addition to the presence of somatic mutations, polymorphic features of the gene may also contribute to alteration of the normal TP53 functioning and variants, mainly in the form of single nucleotide polymorphisms, can be expected to impact susceptibility to sporadic CRC.

sporadic


Input: Mechanistic studies in both in vivo and in vitro systems showed that the Nrf2-mediated protection against diabetic nephropathy is, at least, partially through inhibition of transforming growth factor-beta1 (TGF-beta1) and reduction of extracellular matrix production.

diabetic nephropathy

diabetic nephropathy


Input: Association of DISC1 and TSNAX genes and affective disorders in the depression case-control (DeCC) and bipolar affective case-control (BACCS) studies.

TSNAX

affective disorders

TSNAX

affective disorders


Input: To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue.

corticosteroid-binding globulin deficiency

corticosteroid-binding globulin deficiency


Input: There was a clear, positive relationship between the level of iNOS expression and the degree of inflammation in the colonic tissue of IL-2 (-/-) and wild-type mice.

inflammation


Input: After the integration of murine and human microarray data to inform candidate-gene selection, we observed significant family-based association and independent replication of association in a case-control study, suggesting that SERPINE2 is a COPD-susceptibility gene and is likely influenced by gene-by-smoking interaction.

smoking


Input: Migration inhibitory factor enhances inflammation via CD74 in cartilage end plates with Modic type 1 changes on MRI.

MRI

inflammation


Input: Our previous studies demonstrated that INPP4B, a member of the PI3K/Akt signaling pathway, is overexpressed in a subset of AML patients and is associated with lower response to chemotherapy and shorter survival.

AML

AML


Input: Multivariate analysis showed that MIF-173 C and-794 non-CATT (5) alleles synergized with H. pylori for the risk of gastric cancer (OR = 14. 64).

MIF

gastric cancer


Input: The cell cycle pathway was found as the most important pathway (P = 0. 044) with four genes significantly associated with lung cancer (PLA2G6 minP = 0. 001, CCNA2 minP = 0. 006, GSK3 beta minP = 0. 007 and EGF minP = 0. 013), after adjusting for multiple comparisons.

lung cancer


Input: By combining the PAX3/FKHR RT-PCR assay with primers for detection of the Ewing' s sarcoma t (11; 22) encoded EWS/FLI-1 chimeric transcript, we have developed a multiplex RT-PCR reaction that allows the rapid and accurate identification of either translocation in a biopsy sample.

EWS

translocation


Input: In addition, hypermethylation of Chfr and hMLH1 occurred concurrently (P < 0. 01); methylation was more frequent in patients over 70 years of age (P < 0. 01), and it was also present in some samples of non-neoplastic gastric epithelia from elderly patients.

Chfr

non-neoplastic


Input: Some patients with GDH activating mutations appear to be at unusual risk of developmental delay and generalized epilepsy, perhaps reflecting consequences of increased GDH activity in the brain.

GDH

generalized epilepsy


Input: RESULTS: In large-scale screening of 16 SEREX-antigens by sera of breast cancer patients and healthy donors, a combination of six antigens (RAD50, PARD3, SPP1, SAP30BP, NY-BR-62 and NY-CO-58) was identified, which can differentiate breast cancer patients and healthy donors with 70% sensitivity and 91% specificity.

breast cancer


Input: This study was the first to suggest a possible role of gene expression analysis of ANK3, RASGRP1 and POLG1 in the LCLs as potential biomarkers of BD.

BD

BD


Input: Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

systemic juvenile idiopathic arthritis

systemic juvenile idiopathic arthritis


Input: Co-deletion of chromosome arms 1p and 19q, characteristic of oligodendroglial tumors, was recently found to be mediated by t (1; 19) (q10; p10).

arms


Input: Serum ALR level is helpful in estimating the survival time of patients with HF, and ALR may play an important role in hepatocarcinogenesis.

ALR

hepatocarcinogenesis


Input: The plasma viral load was higher in B57/58 (+) and B27 (+) subjects lacking the conserved B57/58-and B27-restricted responses.

viral load


Input: Unexpectedly, we found that SOD3 (R213G) transgenic mice exhibited premature aging, including hair graying, abnormal gait, and a shortened life span.

abnormal gait


Input: In this study, we show that biotinidase deficiency not only reduces net carboxylase biotinylation, but it also impairs the expression of carboxylases and HCS by interfering with the B-AMP-dependent mechanism of transcription control.

HCS

biotinidase deficiency


Input: We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia.

dopa-responsive dystonia

hereditary progressive dystonia with marked diurnal fluctuation

dopa-responsive dystonia

hereditary progressive dystonia with marked diurnal fluctuation


Input: In rare cases, FUS can substitute for EWS, with translocation t (16; 21) (p11; q24) producing a FUS-ERG fusion with no EWS rearrangement.

EWS

translocation


Input: We also found a negative correlation between age and VGLUT1 mRNA expression in BD in the ERC and ITG.

BD

BD


Input: Reduced PAI-1 expression was also detected in vivo in adult rat heart by direct intramyocardial adenovirus-mediated ATF3 gene delivery.

ATF3 gene

adenovirus


Input: In this study, microarray analysis, in situ hybridization, quantitative real-time PCR and immunohistochemistry revealed decreased expression of the vasopressin gene (Avp) in the hypothalamic paraventricular (PVN) and supraoptic (SON) nuclei of adult LAB mice compared to HAB, NAB (normal anxiety-related behavior) and HABxLAB F1 intercross controls, without detecting differences in receptor expression or density.

SON

anxiety


Input: Our data demonstrated that Bax translocation is absolutely required for DR6-induced apoptosis.

translocation


Input: PTH mRNA correlated with plasma PTH (r = 0. 864; P < 0. 001), but not with adenoma weight, while CD1 mRNA correlated with adenoma weight (r = 0. 715; P < 0. 001).

PTH

weight


Input: Furthermore, our results demonstrated that the levels of hypoxia-inducible factor-1α (HIF-1α) were significantly higher in the cerebral cortex, hippocampus and striatum on the ischemic side; therefore, the HIF-1α-mediated TfR1 expression may be another contributor to the iron overload in the ischemia-reperfusion brain.

ischemia


Input: Affected individuals showed homozygosity to the microsatellite markers tightly linked to LIPH gene at LAH2 locus on chromosome 3q26. 33.

LIPH

LIPH


Input: Immunohistochemical analysis employing a monoclonal antibody nm23-H1 (the antibody against nm-23 protein) was performed on archival material, consisting of 12 cases of follicular thyroid carcinoma (FTC), 57 cases of follicular thyroid adenoma (FTA) and 17 cases of nodular goiter (NG).

nodular goiter


Input: Loss of epithelial MyD88 signaling resulted in increased numbers of mucus-associated bacteria; translocation of bacteria, including the opportunistic pathogen Klebsiella pneumoniae, to mesenteric lymph nodes; reduced transmucosal electrical resistance; impaired mucus-associated antimicrobial activity; and downregulated expression of polymeric immunoglobulin receptor (the epithelial IgA transporter), mucin-2 (the major protein of intestinal mucus), and the antimicrobial peptides RegIIIγ and Defa-rs1.

polymeric immunoglobulin receptor

translocation


Input: In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients.

CCD

CCD


Input: In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes.

MFS

MFS


Input: Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

myosin storage myopathy

myosin storage myopathy


Input: Promoter methylation of P16, RARbeta, E-cadherin, cyclin A1 and cytoglobin in oral cancer: quantitative evaluation using pyrosequencing.

cyclin A1

oral cancer


Input: The gene encoding for LCAT has been mapped to chromosome 16q22. 1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia, and renal dysfunction.

LCAT

LCAT deficiency

LCAT

LCAT deficiency


Input: Augmenter of liver regeneration protects kidneys from ischaemia/reperfusion injury in rats.

Augmenter of liver regeneration

ischaemia


Input: In this study, messenger RNA (mRNA) expression for novel T lymphocyte chemoattractants, leukotactin-1, macrophage inflammatory protein (MIP)-3 alpha and MIP-3 beta was investigated in bronchoalveolar lavage fluid (BALF) cells from patients with sarcoidosis, a T cell-mediated disease with typical CD4 + lymphocyte alveolitis.

sarcoidosis


Input: To describe seizure phenotypes associated with the hyperinsulinism/hyperammonemia syndrome (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH).

GDH

seizure


Input: The GRS was significantly associated with a higher odds of asthma (OR = 1. 61, 95% Confidence Interval = 1. 21, 2. 13; p = 0. 001).

GRS

asthma


Input: In order to address clinical important issues, PRND mRNA expression was investigated in a panel of 111 astrocytoma tissue samples, histologically classified according to the World Health Organization (WHO) criteria (6 grade I pilocytic astrocytomas, 15 grade II low-grade astrocytomas, 26 grade III anaplastic astrocytomas and 64 grade IV glioblastoma multiforme).

PRND

glioblastoma multiforme


Input: Taken together, these results indicate that the PGE (2) and EP1 interaction enhanced migration of oral cancer cells through an increase in ICAM-1 production.

oral cancer


Input: Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver.

CN-I

unconjugated hyperbilirubinemia


Input: The infrequent loss of the APC and DCC regions and the absence of TGFbeta RII gene mutation in RER-positive neoplasms contrast with colorectal carcinogenesis.

RER

carcinogenesis


Input: In this regard, the potential role of HDAC2 in liver fibrosis was further evaluated.

liver fibrosis

liver fibrosis


Input: Detailed clinical information was obtained on 86 patients with and without NSD1 abnormalities, and a clinical checklist was developed to help distinguish between these two groups of patients.

abnormalities


Input: In end-stage failing vs. non-failing human myocardium, increased fibrosis was associated with significantly increased RASAL1 promoter methylation, decreased RASAL1 expression, increased Ras-GTP activity, and increased expression of markers of EndMT.

fibrosis


Input: Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia.

cocaine dependence

cocaine dependence


Input: In patients with HCC in NCL and iron overload, C282Y mutations are frequent (36. 8% of cases) and significantly increased (p < 0. 009) compared to HCC in NCL without iron overload; these mutations are mostly heterozygous.

NCL

iron overload


Input: The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.

TAP

atopic


Input: However, we have identified a novel missense mutation in a family with a classical multi-symptomatic NF1 phenotype, including a malignant schwannoma, that specifically abolishes the Ras-GTPase-activating function of neurofibromin.

neurofibromin

neurofibromin


Input: This was confirmed by loss of heterozygosity for p53 in the non-NF1 patient, suggesting that p53 is involved in both hereditary and sporadic Triton tumors.

sporadic


Input: Thus, genetic alteration at the fragile site within the FHIT gene leads to loss of Fhit protein in a significant fraction of sporadic breast cancers and a much larger fraction of familial breast cancers with an inherited BRCA2 mutation, consistent with the idea that loss of BRCA2 function affects stability of the FHIT/FRA3B locus.

sporadic


Input: In this study, the level of PTL-induced generation of reactive oxygen species (ROS) and apoptosis was significantly higher in the MPO-high leukemia cell lines compared with the MPO-low leukemia cell lines.

PTL

leukemia


Input: These findings raise the possibility that ketohexokinase-A serves an unknown physiologic function that remains intact in essential fructosuria.

ketohexokinase

fructosuria

ketohexokinase

fructosuria


Input: In conclusions, lncRNA RP11-445H22. 4 may be a new potential biomarker of breast cancer.

RP11-445H22. 4

breast cancer


Input: It can be inferred from these findings that IL-6 gene expression is related to glioma aggressiveness and that IL-6 may play a central role in GBM behavior.

aggressiveness


Input: Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.


Input: Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: Thus, there seems to be a useful distinction between the classical NK/T type of nasal lymphoma (CD56 +/n-cdk6 +/CD44-/TcR-GR-) and PTL (CD56-/n-cdk6-/CD44 +/TcR-GR +) involving the nasal region.

PTL

lymphoma


Input: MMR inactivation produces distinct changes in the cellular messenger RNA pool, which is consistent with a unique tumorigenesis pathway.

MMR

tumorigenesis


Input: Interestingly, Ad-PUMA was found to be more efficient than Ad-p53 in inhibiting cell growth and enhancing the chemosensitivity of esophageal cancer cell lines irrespective of the p53 status.

PUMA

esophageal cancer

PUMA

esophageal cancer


Input: We studied the impact of MEK1 and MEK2 activation on cellular morphology, cell proliferation, survival, migration, invasiveness, and tumorigenesis in mice.

tumorigenesis


Input: We report the homozygous deletion of exon 9 of DIS3L2 in a Japanese patient with Perlman syndrome.

Perlman syndrome

Perlman syndrome


Input: The potential interaction of GSTM1 and GSTP1 genotypes in pulmonary carcinogenesis was assessed in 382 male Japanese lung cancer patients (127 squamous cell carcinoma, 78 small cell carcinoma, 177 adenocarcinoma) and 257 controls.

small cell carcinoma


Input: A representative anti-Nectin-2 mAb in epitope bin VII, Y-443, showed anti-tumor effects against OV-90 cells and MDA-MB-231 breast cancer cells in mouse therapeutic models, and its main mechanism of action appeared to be ADCC.

breast cancer

breast cancer


Input: Recently, a gene mapped to Xq13 termed HOPA has been found to be associated with mental retardation, hypothyroidism, and depression and to function as a coactivator for the thyroid receptor.

HOPA

depression

HOPA

depression


Input: We previously investigated a limited number of human sporadic colorectal cancers (CRCs) and observed a statistically different occurrence of KRAS and p53 mutations among predetermined subgroups of tumors with different degrees of DNA aneuploidy.

sporadic


Input: Pulmonary small cell carcinoma metastatic to the ovary: a clinicopathologic study of one case with emphasis on the importance of p53 analysis in diagnosis.

small cell carcinoma metastatic


Input: Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.

LCAT

Familial lecithin-cholesterol acyltransferase deficiency

LCAT

Familial lecithin-cholesterol acyltransferase deficiency


Input: Flavocoxid reduced prostate weight and hyperplasia, blunted inducible expression of COX-2 and 5-LOX as well as the increased production of PGE (2) and leukotriene B (4) (LTB (4)), enhanced pro-apoptotic Bax and caspase-9 and decreased the anti-apoptotic Bcl-2 mRNA.

hyperplasia


Input: Here, we examined the expression of p-STAT3 in the tumor tissues from 90 patients with newly diagnosed supratentorial GBM via immunohistochemical technique and evaluated the influences of its expression on progression-free survival (PFS) and overall survival (OS) using the Kaplan-Meier curve and COX proportional hazards regression model.

regression


Input: In addition, because mutations in p53 are one of the more common aberrations in cancer in general, identification of these mutations and exploration of this approach is warranted in patients with sporadic cancers.

sporadic


Input: Loss of heterozygosity (LOH) at the BRCA2 locus has been observed in 30-40% of sporadic breast and ovarian tumours, implying that BRCA2 may act as a tumour suppressor gene in a proportion of sporadic cases.

sporadic


Input: Whereas the N4, L38, and NGFbeta peptide domains present within pro-NGF were previously shown to induce phosphorylation of the high-affinity NGF receptor, tropomyosin receptor kinase (Trk), only the NGFbeta moiety was able to stimulate anchorage-independent growth of prostate tumor cells.

prostate tumor


Input: Disruption of both Hfe and Tfr2 caused more severe hepatic iron overload with more advanced lipid peroxidation, inflammation, and portal fibrosis than was observed with the disruption of either gene alone.

portal fibrosis


Input: The Northwick Park Heart Study found that elevation of factor VII in middle-aged subjects was an independent risk factor for subsequent ischemic heart disease.

factor VII

ischemic heart disease


Input: Using polymerase chain reaction and direct sequencing, we analyzed the EXT1 and EXT2 genes in three familial cases and one sporadic case of HME in Taiwanese patients.

HME

sporadic


Input: A high LOH frequency was found in BRCA1 tumors (range 19-82%), as compared to BRCA2 and sporadic tumors (ranges 11-44% and 7-43%, respectively).

sporadic


Input: Thus, systemic administration of these adenoviral vectors should have clinical potential to treat and detect liver metastasis and HCC.

HCC

liver metastasis


Input: Maintenance of lower BP after weight loss is more difficult for carriers of the CYP4F2 G1347A polymorphism and may be related to increased arterial stiffness and increased 20-HETE synthesis.

arterial stiffness


Input: Lipoteichoic acid (LTA) is a major outer cell wall component of Gram-positive bacteria that has been implicated as an important factor in the inflammatory response following bacterial infection.

LTA

bacterial infection


Input: Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs.

SPG

progressive spasticity


Input: UVB irradiation induced phosphorylation of TOPK in RPMI7951 human melanoma cells and phosphorylated TOPK co-localized with Prx1 in the nucleus.

melanoma


Input: This represents a potential mechanism by which IL-4/IL-13 could play a role in the pathogenesis of lung fibrosis.

lung fibrosis

lung fibrosis


Input: To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene.


Input: Taken together, our findings indicate that miR-362-5p belongs to a new class of oncomiR that regulates HCC cell aggressiveness, thus providing new insight into the molecular mechanisms underlying HCC development.

HCC

aggressiveness


Input: Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E.

CCSK

CCSK


Input: Centromere spreading (CS), which was originally reported in marrow cells of megaloblastic anemia (B12 and folic acid deficiency), was detected in leukemic cells, disappeared during remission, and reappeared on relapse.

megaloblastic anemia


Input: A Zellweger syndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open reading frame.

Zellweger syndrome

Zellweger syndrome


Input: We have characterized a substantial number of these CpG island associated genes with potentially important roles in tumorigenesis, such as the cadherin member FAT, or the homeobox genes LMX-1 and DUX-4.

FAT

tumorigenesis


Input: In contrast, during sepsis, which is common in cirrhosis, vascular hyporeactivity is associated with an induction of inducible NOS2.

cirrhosis


Input: Specific language impairment (SLI) is a developmental language disorder that occurs for no known reason.

SLI

developmental language disorder


Input: The levels of GIN were analyzed by immunofluorescence studies of 53BP1 in 56 skin tumors that included 20 seborrheic keratosis, eight actinic keratosis, nine Bowen' s disease, nine squamous cell carcinoma, and 10 basal cell carcinoma.

basal cell carcinoma


Input: Conversely, BRCA2 associated breast cancers do not differ significantly from sporadic cancers.

sporadic


Input: Taken together, we provide evidence that the epigenomic proteins BRD3/4 and WHSC1 are essential regulators of estrogen receptor signaling and are novel therapeutic targets for treatment of Tam-R breast cancer.

breast cancer

breast cancer


Input: MIF-Jab1 complexes could serve critical regulatory functions in atherosclerotic lesion evolution.

MIF

atherosclerotic lesion


Input: They also exhibit immunological and biochemical abnormalities, in that: (a) they react preferentially with monoclonal antibodies (MAb) that recognize ligand-binding domains of TrfR (42/6 and 43/31), as compared to MAbs (B3/25, OKT9) that interact with the nonligand binding domains; (b) they have a reduced molecular weight, as compared to TrfR on normal thymocytes and activated T-lymphocytes: this phenomenon is apparently related to a defective glycosylation.

TrfR

abnormalities


Input: Thus, 8-nitroguanine is a more suitable and promising biomarker for evaluating the risk of inflammation-mediated cervical carcinogenesis than p16.

inflammation


Input: The MMTV-CDC25A transgene markedly shortens latency of tumorigenesis in MMTV-ras mice.

tumorigenesis


Input: We therefore examined the allele-specific expression of the H19 and IGF2 genes in testicular tumors.

testicular tumors


Input: Genetically based impairment in CYP2C8-and CYP2C9-dependent NSAID metabolism as a risk factor for gastrointestinal bleeding: is a combination of pharmacogenomics and metabolomics required to improve personalized medicine?

gastrointestinal bleeding


Input: The combined results of this study provide evidence that the H3K9-me1/2 demethylase KDM3B might play a role in leukemogenesis via activation of lmo2 through interdependent actions with the histone acetyltransferase (HAT) complex containing CBP.

HAT

leukemogenesis


Input: Comedo-DCIS is a precursor lesion for basal-like breast carcinoma: identification of a novel p63/Her2/neu expressing subgroup.

basal-like breast carcinoma


Input: The melanoma tumor antigen, melanotransferrin (p97): a 25-year hallmark--from iron metabolism to tumorigenesis.

tumorigenesis


Input: Recipients with renal diseases with potential to recur (membranous glomerulonephritis (MGN), membrano-proliferative glomerulonephritis (MPGN), focal and segmental glomerulonephritis (FSGN), polyarteritis nodosa (PAN), rapid progressive glomerulonephritis (RPGN), Henoch-Schoenlein purpura (HSP), diabetes mellitus (DM), interstitial nephritis, systemic lupus erythematosus (SLE) and chronic glomerulonephritis (CGN)) faired worse as a group than recipients with hypertensive nephrosclerosis (HTN), autosomal dominant polycystic kidney disease (ADPKD), Alport' s, reflux or congenital dysplasia (68 vs. 96% at 10 yr, p = 0. 0009).

CGN

reflux


Input: Induction of a CD1 antisense gene in a human colon cancer cell line resulted in rapid, concomitant changes in CD1 mRNA and protein, cyclin E, cdk2, cdk4, and cdk6, as well as the ratio of ppRb to pRb.

cyclin E

colon cancer


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.

dermatitis

dermatitis


Input: MRI revealed marked cerebral atrophy and enlargement of the ventricular system.

MRI

enlargement


Input: TNF-alpha induced NF-kappaB and RhoA activation and upregulation of adhesion molecules ICAM-1 and VCAM-1, increased expression of monocyte chemoattractant protein, enhanced transendothelial migration of monocytes, and augmented monocyte-endothelial adhesion.

NF-kappaB

adhesion


Input: However, a small interfering RNA (siRNA)-mediated RGS2 knockdown reversed the apoptotic cell death associated with ischemia-induced RGS2 upregulation.

ischemia


Input: The WSB1 gene is involved in pancreatic cancer progression.

WSB1 gene

pancreatic cancer


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

inflammation


Input: Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann' s thrombasthenia.

Glanzmann' s thrombasthenia

Glanzmann' s thrombasthenia


Input: Pheochromocytomas with mutations in TMEM127 are transcriptionally related to tumors bearing NF1 mutations and, similarly, show hyperphosphorylation of mammalian target of rapamycin (mTOR) effector proteins.

Pheochromocytomas

Pheochromocytomas


Input: Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

cognitive deficits

cognitive deficits


Input: hypertension, metabolic alkalosis and elevated levels of plasma renin activity (PRA) and aldosterone, is described.

PRA

metabolic alkalosis


Input: Overall, this study shows that RSPH3 mutations contribute to disease in more than 10% of PCD-affected individuals with CC/RS defects, thereby allowing an accurate diagnosis to be made in such cases.

PCD

PCD


Input: We aimed to evaluate Ala307Thr and Asn680Ser genotypes of the FSHR gene in infertile women and correlate the findings with the results of ovarian response and assisted reproduction outcomes.

FSHR gene

infertile


Input: SALL4 may play role in tumorigenesis and tumor cell invasiveness of ESCC through correlation with BMP signaling genes.

ESCC

ESCC


Input: A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

insulin receptor

Donohue syndrome

insulin receptor

Donohue syndrome


Input: In addition to HGF, both patients had short stature, subnormal growth velocity, and delayed bone age but no abnormalities on magnetic resonance imaging of the brain.

HGF

abnormalities


Input: Angiotensin II (Ang II) plays a critical role in the development of diabetic cardiomyopathy.

Angiotensin II

diabetic cardiomyopathy

Angiotensin II

diabetic cardiomyopathy


Input: In the whole cohort, ucOCN/OCN ratio was negatively correlated to body mass index (rho =-0. 233; P < 0. 05).

OCN

body mass index


Input: Taken together, the results suggested that frequent inactivation of LRP1B mainly occurs by means of epigenetic mechanisms in OSCC, which might play an important role in oral tumorigenesis.

tumorigenesis


Input: ], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP).

telangiectasia


Input: NSD1 abnormalities were identified in 15 (83%) patients.

abnormalities


Input: The well studied associations between sarcoidosis and HLA-class II molecules indicate specific antigen presentation for T helper cells, which is in agreement with the characteristic finding of lung-accumulated CD4 + T helper cells expressing a limited set of T cell receptors.

sarcoidosis


Input: These results indicate that the presence of human c-Ha-ras genes and intestinal bacteria substantially modify colorectal tumorigenesis induced by DMH.

DMH

tumorigenesis


Input: SHCBP1 knockdown also significantly inhibited SS cell growth in nude mice, and lowered the MAPK/ERK and PI3K/AKT/mTOR signaling pathways and cyclin D1 expression.

SS

SS


Input: Here we found that Ezh2 regulated the integrin signaling and adhesion dynamics of neutrophils and dendritic cells (DCs).

adhesion


Input: Our investigations show both human spasmolytic polypeptide and pS2 messenger RNA within the polyps, whereas only pS2 peptide could be demonstrated immunohistochemically.

polyps


Input: Previously, we found a positive correlation between the expression of platelet-type 12-lipoxygenase (12-LOX) and the progression of human prostate adenocarcinoma (PCa; Gao et al., Urology, 46: 227-237, 1995).

prostate adenocarcinoma


Input: While deposition induces organ dysfunction, renal involvement in TTR-related amyloidosis could manifest from proteinuria to end-stage kidney failure.

TTR

proteinuria


Input: Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

integrin beta-4

pyloric atresia

integrin beta-4

pyloric atresia


Input: To clarify whether host genetic factors contribute to secondary tumorigenesis, we performed mutational analyses of the TP53, BRCA1, and BRCA2 tumor suppressor genes in a cohort of 44 HD patients developing one or more SMN.

tumorigenesis


Input: Furthermore, histochemistry reveals markedly increased NEDD4-1 immunoreactivity in the degenerating/degenerated motor neurons in the lumbar anterior horn of the spinal cord, suggesting a direct causative role for NEDD4-1 in neurodegeneration.

neurodegeneration


Input: Strikingly, increasing the ceramide/S1P ratio, by using pharmacologic (SphK1 inhibitor or ceramide analogue) or small interfering RNA-based approaches to up-regulate intracellular ceramide levels or reduce SphK1 activity, sensitized pancreatic cancer cells to gemcitabine.

pancreatic cancer


Input: The variations in perilipin gene (PLIN) were previously associated with obesity and insulin sensitivity.

PLIN

insulin sensitivity


Input: Based on data from the HALT-C trial, the PNPLA3 CG/GG SNP at rs738409 is associated with fibrosis progression but not development of HCC in patients with HCV infection.

HCC

fibrosis


Input: Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.

short rib


Input: In a Cox regression model adjusting for European Blood and Marrow Transplant (EBMT) risk score, T cell depletion, and year of treatment, HSCT with a tumor necrosis factor d (TNFd) 4/d5-positive donor was associated with increased mortality (hazard ratio [HR] = 2. 03; confidence interval [CI] 1. 25-3. 31; P =. 004), whereas the D6S510-184 allele was protective (HR = 0. 44; CI 0. 22-0. 87; P =. 018).

factor d

regression


Input: Overexpression of manganese superoxide dismutase mRNA may correlate with aggressiveness in gastric and colorectal adenocarcinomas.

manganese superoxide dismutase

aggressiveness


Input: UHRF1 expression at mRNA and protein levels was detected by quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) and immunohistochemistry, respectively, in both tissues of LSCC and corresponding adjacent normal larynx tissues.

larynx


Input: HGV RNA was detected in 7. 8% of patients with cryptogenic CLD (chronic hepatitis, 9. 3%; cirrhosis, 5. 0%; HCC, 7. 4%), in 2. 4% of patients with PBC or WD, and in 2. 2% of controls.

HCC

chronic hepatitis


Input: We performed association tests between single nucleotide polymorphisms (SNPs) in the MYLK gene and asthma susceptibility and total serum IgE concentrations in 2 independent, family-based populations of African descent.

MYLK gene

asthma susceptibility


Input: Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

Fuchs' corneal dystrophy

Fuchs' corneal dystrophy


Input: We investigated the interplay between photoreceptors expressing mutant ELOVL4 (responsible for Stargardt-like disease, STGD3) and RPE in the initial stages of retinal degeneration.

RPE

retinal degeneration


Input: Subjects enrolled included 185 cases of HCC, 182 cases of chronic hepatitis (CH) and 200 healthy controls.

HCC

chronic hepatitis


Input: In a cohort of Chinese patients (n = 355) with TGFBI dystrophies from 64 families and 3 sporadic cases, 19 distinct mutations were found in several different CD subtypes.

TGFBI

sporadic


Input: Our findings challenge a prevailing view that CDX2 is a tumor suppressor in colorectal cancer and uncover an additional piece in the multistep model of colorectal tumorigenesis.

tumorigenesis


Input: Three of four samples from non-neoplastic reactive lesions showed two bands with equal intensity, representing transcription of the two alleles of the G6PD gene, while the corresponding tumour samples demonstrated a biased intensity in one allele, indicating monoclonality.

G6PD gene

non-neoplastic


Input: The BRCA2-EMSY connection: implications for breast and ovarian tumorigenesis.

tumorigenesis


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

sporadic


Input: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

WASP

X-linked thrombocytopenia

WASP

X-linked thrombocytopenia


Input: Chronic hypoxic pulmonary hypertension (PH), associated with increased pulmonary arterial pressure (PPA) and right ventricular hypertrophy (RVH), correlates significantly with calcitonin gene-related peptide (CGRP) and somatostatin (SOM) levels in lung and blood.

calcitonin

pulmonary hypertension

calcitonin

pulmonary hypertension


Input: Our study demonstrates that genotypes and haplotypes of SP110 might be associated with susceptibility to tuberculosis in Chinese population.

susceptibility to tuberculosis


Input: COPD group had higher plasma MCP1 levels than healthy participants (257. 0 versus 194. 4 pg/mL) in the univariate analysis (P =. 005); and in stepwise liner regression analysis after adjustment for age, alcohol, body mass index, cancer history, and steroid use (P =. 002; 95% confidence interval [CI]: 30. 72-128. 02).

body mass index


Input: Thus, further investigation is needed to improve our understanding of the Cx32 protein function in the nervous system.

nervous system


Input: Studies in sporadic cancers have shown promoter methylation of the FANCF gene in a significant proportion of various solid tumours.

FANCF gene

sporadic


Input: The enhanced association between smoking and colorectal cancer risk in subjects with the NAT2 rapid genotype supports a role for NAT2 and tobacco smoke heterocyclic amines in the etiology of colorectal cancer.

smoking


Input: Our goal in the present work was to determine whether male patients with untreated hypogonadism have an increased risk of developing rheumatic/autoimmune disease (RAD), and, if so, whether there is a relation to the type of hypogonadism.

RAD

hypogonadism


Input: We evaluated AAHs, adjacent normal lung tissue, and synchronous lung adenocarcinomas for promoter hypermethylation of genes implicated in lung tumorigenesis (p16, TIMP3, DAPK, MGMT, RARbeta, RASSF1A, and hTERT).

DAPK

tumorigenesis


Input: We typed the 306 base pair Alu insertion (AluIns) polymorphism in intron G of PR in 101 individuals, estimated linkage disequilibrium (LD) between five single-nucleotide polymorphisms (SNPs) across the PR locus in 980 Australian triads (endometriosis case and two parents) and used transmission disequilibrium testing (TDT) for association with endometriosis.

TDT

endometriosis


Input: These data suggest that CCL7 acts as a driver of TNF-α-dependent Th1/Th17-mediated inflammation in lesional psoriatic skin.

inflammation


Input: These results suggested that SIP-SII might suppress melanoma metastasis via the inhibition of the tumor adhesion mediated by ICAM-1 and the angiogenesis mediated by bFGF, as well as resulting in depression of the invasion and migration of carcinoma cells.

SII

depression


Input: Since the changes in K (+) currents in astrocytes and NG2 glia that accompany glial scar formation might influence tissue outcome by altering K (+) ion homeostasis, we aimed to characterize the changes in K (+) currents in hippocampal astrocytes and NG2 glia during an extended time window of reperfusion after ischemic injury.

scar


Input: Subjects who are heterozygous for the mutation show mild biochemical abnormalities in the growth hormone-releasing hormone (GHRH)--growth hormone--insulin-like growth factor axis, but have only minimal or no growth retardation.

GHRH

abnormalities


Input: GSTP1 protein levels also showed significant decrease in ESCC when adjusted for age, gender, smoking status, and alcohol use.

alcohol use


Input: The extent to which brain structural abnormalities might serve as neurobiological endophenotypes that mediate the link between the variation in the promoter of the serotonin transporter gene (5-HTTLPR) and depression is currently unknown.

serotonin transporter

abnormalities


Input: Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.

clear cell sarcoma

clear cell sarcoma


Input: Previous studies have reported that polymorphisms in IGF2 are associated with body weight and body mass index (BMI), but the results have been inconsistent.

body mass index


Input: Schizophrenia is associated with dysregulation of a Cdk5 activator that regulates synaptic protein expression and cognition.

Schizophrenia

Schizophrenia


Input: The present study concluded that ovarian tumors with mutations closer to the N-terminal of BRCA1 may have a higher risk of DNA aneuploidy.

aneuploidy


Input: On the basis of the recent report that granulocyte colony-stimulating factor (G-CSF) administration after rats' partial orthotopic liver transplantation greatly improved survival rate and liver regeneration of partial graft, we here evaluated the effect of intermittent administration of G-CSF on fibrosis formation induced by carbon tetrachloride (CCl (4)).

granulocyte colony-stimulating factor

fibrosis

granulocyte colony-stimulating factor

fibrosis


Input: EVA morphology was classified into four subgroups by the pattern of enlargement: aperture, aperture and midpoint, midpoint, and borderline enlargement.

EVA

enlargement


Input: It is proposed that genetic alterations in the PI3K/Akt pathway promote thyroid cell transformation to FTC and that genetic alterations in the MAPK pathway promote cell transformation to PTC; accumulation of multiple genetic alterations that can activate both pathways promotes thyroid cancer aggressiveness and progression to ATC.

aggressiveness


Input: Valproate is used in the treatment of bipolar disorder and may alter CRF activity via a GABA (A)-ergic mechanism.

CRF

bipolar disorder

CRF

bipolar disorder


Input: These results suggest that the PPARgamma agonist, troglitazone, inhibits colon cancer cell growth via inactivation of NF-kappaB by suppressing GSK-3beta activity.

PPARgamma

colon cancer

PPARgamma

colon cancer


Input: A key feature of the failing heart is a decreased content and activity of SERCA2, which is the cause of some of the physiological defects observed in the hypertrophic cardiomyocyte performance that are important during transition of compensated hypertrophy to heart failure.

hypertrophy


Input: Collectively, these observations suggest that the interplay between nucleolar dysfunction and increased oxidative stress, involving p53 and mTOR signaling, may constitute a destructive axis in experimental and sporadic PD.

sporadic


Input: However, the relationship between periostin and the development of airflow limitation, a functional consequence of airway remodeling, remains unknown.

periostin

airway remodeling


Input: We also found ataxia-telangiectasia mutated (ATM) protein and mRNA to be overexpressed in the resistant MCF-7-EPI (R) cells compared with MCF-7 cells and that epirubicin could activate ATM to promote E2F activity and FOXM1 expression.

telangiectasia


Input: IRAK-M, a negative regulator of the Toll-like receptor/IL-1R pathways, is a master regulator of NF-kappa B and inflammation.

IRAK-M

inflammation


Input: The aim of the present investigation was to study bioactivity and the glycosylation pattern of serum FSH and the occurrence of mutations in the FSH receptor in infertile patients with SCO compared to normal men.

FSH receptor

infertile


Input: Rearrangements of NTRK1 gene in papillary thyroid carcinoma.

papillary thyroid carcinoma

papillary thyroid carcinoma


Input: We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR.

GHR

LS

GHR

LS


Input: Aberrant expression of miR-125a-3p promotes fibroblast activation via Fyn/STAT3 pathway during silica-induced pulmonary fibrosis.

pulmonary fibrosis

pulmonary fibrosis


Input: Thus, heparanase facilitates blood coagulation on the cell surface by two independent mechanisms: dissociation of TFPI from the vascular surface shortly after local elevation of heparanase levels, and subsequent induction of TF expression.

heparanase

dissociation


Input: The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.

GNAQ

port-wine stains

GNAQ

port-wine stains


Input: Association between rs146052672 variant and MetS occurred independently of T2D, indicating that HMGA1 gene defects play a pathogenetic role in MetS and other insulin-resistance-related conditions.

insulin-resistance

insulin-resistance


Input: Overall, these data suggest that Tyro3 contributes significantly to tumor growth, aggressiveness and liver dysfunction.

liver dysfunction


Input: Indomethacin or dipyrone reduced LPS, IL-1beta, IL-6 or TNF-alpha induced fever and CRH release from rat hypothalamus.

fever

fever


Input: Significant results with p ≤ 0. 05 showed that age ≥ 48 years (OR = 11. 87; 7. 55-18. 65), smoking (OR = 4. 25; 2. 70-6. 69), drinking (OR = 1. 59; 1. 02-2. 46) were possible predictors for the head and neck cancer development and the presence of A313G GSTP1 polymorphism (OR = 0. 62; 0. 42-0. 92) decreased the risk for this disease.

drinking


Input: Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency.

COX

neurological disorder


Input: Understanding this unique switch arrangement of overlapping, co-regulated NES/NLS sequences is vital to delineating the critical role of RabV P protein in viral infection.

NES

viral infection


Input: The results showed that LOX mRNA and protein expression were upregulated under hypoxic conditions in NSCLC cells.

LOX

hypoxic


Input: The latter underpins a previously unrecognized role for altered HTRA2 expression as a risk factor relevant to parkinsonian neurodegeneration.

neurodegeneration


Input: In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused hyperalgesia and sensitized to the actions of capsaicin. pkr1-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2).

bradykinin

hyperalgesia

bradykinin

hyperalgesia


Input: TRPC1 and TRPC6 channels cooperate with TRPV4 to mediate mechanical hyperalgesia and nociceptor sensitization.

mechanical hyperalgesia


Input: Among 61 nephritis patients and four normal subjects investigated in the present study, Jak3 was selectively localized to glomerular epithelia of IgA-N patients (14/34 cases) and focal glomerulosclerosis patients (1/5 cases), but not detected in minimal changes (n = 6), membranous glomerulonephropathy (n = 7), crescentic glomerulonephritis (n = 4), lupus nephritis patients (n = 5), and normal subjects (n = 4).

nephritis


Input: These results suggest that enhanced expression of p46 Shc and p52 Shc, as well as p46 Shc tyrosine phosphorylation, was involved not only in the process from normal liver to chronic hepatitis, but also in the transition from chronic hepatitis into HCC in LEC rats.

HCC

chronic hepatitis


Input: Our data indicate that GRID1 rs3814614 genotype is related to grey matter variation in prefrontal and anterior thalamic brain areas in healthy subjects, but not in patients indicating a potential role of this schizophrenia candidate gene in thalamo-cortical functioning.

schizophrenia

schizophrenia


Input: Increased expression of caspase 2 in experimental and human temporal lobe epilepsy.

caspase 2

temporal lobe epilepsy


Input: Overexpression of the anaphase promoting complex/cyclosome inhibitor Emi1 leads to tetraploidy and genomic instability of p53-deficient cells.

genomic instability


Input: Adjustment for diet, smoking, alcohol intake, physical activity and educational level modestly attenuated the magnitude of these associations, but they remained significant for ALT and borderline significant for AST.

AST

alcohol intake


Input: Translocation t (8; 16) (p11; p13) in neonatal acute monocytic leukaemia.

acute monocytic leukaemia


Input: These data indicate that adenovirus-mediated gene transfer to the eye may provide for adjunctive therapy for lysosomal storage diseases affecting the RPE in conjunction with enzyme replacement and/or gene therapies for correction of systemic disease manifestations.

RPE

lysosomal storage diseases


Input: Most of the others are associated with the resolution of innate inflammation, alternative pathways of macrophage/microglial activation, and the repair phase after acute injury (TGFβ, IL-1ra, IL-1r2, IL-4, IL-13, IL-4Rα, IL-13Rα1, IL-13Rα2, MRC1, ARG1, CD163, CCL22).

inflammation


Input: Interleukin-22 and interleukin-22-producing NKp44 + natural killer cells in subclinical gut inflammation in ankylosing spondylitis.

inflammation


Input: In HCC cell lines, the AKT-mammalian target of rapamycin complex 1-ribosomal protein S6 pathway promoted lipogenesis via transcriptional and post-transcriptional mechanisms that included inhibition of fatty acid synthase ubiquitination by the USP2a de-ubiquitinase and disruption of the SREBP1 and SREBP2 degradation complexes.

HCC

HCC


Input: RUNX1 siRNA decreased cell spreading on collagen and fibrinogen.

fibrinogen


Input: Human neuroblastoma cell lines and a majority of primary neuroblastoma specimens showed high-level expression of the pathway targets and components, indicating persistent activation of the SHH pathway.

SHH

neuroblastoma


Input: The present study was carried out to search for an association between variants of the BCHE gene and weight, stature, and BMI on the basis of means and variances compared between nonusual variants and their respective usual controls.

BCHE gene

stature


Input: We examined the effects of FTS on gene-expression profiles, growth and death of NCIH929 myeloma cells and K562 leukemia cells, which-like LAN-1 cells-exhibit Myc gene amplification and harbor active Ras.

FTS

myeloma


Input: Insertion (10; 11) (p11; q23q24) in two cases of acute monocytic leukemia.

acute monocytic leukemia


Input: With few exceptions, such hybrids also showed increased basal-and MSH-induced pigmentation, at least in part through increased N-glycosylation of melanogenic proteins (Sodi et al., 1998.

MSH

pigmentation


Input: Use of antisera specifically recognizing the C-terminus of beta-, alpha-, and gamma-endorphin, respectively, revealed that only the beta-endorphin antiserum inhibited the fall in blood pressure in spontaneously hypertensive rats after cumulative administration of clonidine.

beta-endorphin

fall in blood pressure

beta-endorphin

fall in blood pressure


Input: We show that the newly evolved protective TATA allele is associated with decreased total LMO1 expression (P & #8201; = & #8201; 0. 028) in neuroblastoma primary tumours, and ablates GATA3 binding (P & #8201; & lt; & #8201; 0. 0001).

neuroblastoma

neuroblastoma


Input: (18) F-FES and (18) F-FDG PET studies provide a new index of the (18) F-FDG-to-(18) F-FES ratio, which is considered the most informative index reflecting tumor aggressiveness.

FES

aggressiveness


Input: To determine the role of systemic inflammatory response syndrome (SIRS) and multiple organ dysfunction syndrome (MODS), and evaluate the progress from SIRS to MODS and the therapeutic strategies for acute necrotizing pancreatitis (ANP).

ANP

systemic inflammatory response syndrome


Input: The authors have identified six Southeast Asian patients ranging in age from 14 to 21 years with hemoglobin E-beta (0) thalassemia and a coagulopathy involving von Willebrand factor (vWF).

von Willebrand factor

thalassemia


Input: Disease progression in wild-type and Mincle (-/-) mice undergoing pulmonary infection with K. pneumoniae was compared.

Mincle

pulmonary infection


Input: These results indicate that exogenously processed HNE is a source of PR1 peptide as well as other peptide sequences capable of inducing leukemia-specific CD8 + and CD4 + T cells.

leukemia


Input: Since administration of capsaicin and isoflavone increases serum levels of IGF-I by sensory neuron stimulation in subjects with alopecia, it is possible that administration of capsaicin and isoflavone reduces arterial blood pressure in patients with hypertension.

IGF-I

hypertension

IGF-I

hypertension


Input: To clarify the role of ALCAM in endometrial tumorigenesis, we determined the levels of protein and messenger RNA expression of ALCAM in human endometrial tissue (proliferative phase [n = 20], secretory phase [n = 20], simple hyperplasia [n = 15], complex hyperplasia [n = 12], atypical hyperplasia [AH, n = 14], EEC [n = 42]) using immunohistochemistry, Western blot, and semiquantitative reverse transcription-polymerase chain reaction, respectively.

ALCAM

tumorigenesis


Input: In this report, CK19 and p63 were immunohistochemically examined in primary tumours for use as molecular markers and were compared with cytokeratin 903 (CK903), cytokeratin 8/18 (CK8/18) and cytokeratin (AE1/AE3), which are used in diagnostic immunohistochemistry for head and neck squamous cell carcinoma.

head and neck squamous cell carcinoma


Input: Furthermore, detectable levels of CCL20 protein are seen in the BAL fluid components of patients with active sarcoidosis, and sarcoid AMs release the CCR6 ligand in vitro.

sarcoid


Input: For oropharyngeal GC (89 infections detected), sensitivities were 41% for culture, 72% for SDA, and 84% for AC2.

SDA

infections


Input: The genomic expression of 20 stroma-derived factors, including the androgen receptor (AR), growth factors (FGF2, FGF7, FGF10, HGF, TGFβ, PDGFB), protein implicated in invasion (MMP-2, MMP-9 and MMP-11), inflammation (IL-6, IL-17, STAT-3 and NFκB), stroma/epithelium interaction (CDH11, FAP, CXCL12 and CXCL14) and chaperones (HPA1A and HSF1), was evaluated in cultured fibroblasts both from BHP and prostate carcinomas (PCa).

inflammation


Input: We utilized shRNA of Rap1 isoforms in cultured human retinal pigment epithelial cells, along with knockout mouse models to test the role of Rap1 on promoting RPE barrier properties, with emphasis on the dynamic junctional regulation that is triggered when the adhesion between cells is challenged.

RPE

adhesion


Input: Formyl peptide-receptor like-1 requires lipid raft and extracellular signal-regulated protein kinase to activate inhibitor-kappa B kinase in human U87 astrocytoma cells.

astrocytoma


Input: There were gene-environment interactions between ADH1B + 3170A > G and ADH1C + 13044A > G and alcohol consumption and smoking.

smoking


Input: NOS inhibition by L-NAME increased basal frequency and attenuated the positive chronotropic effect of beta-adrenergic stimulation in the HF group (P & lt; 0. 05).

NOS

HF

NOS

HF


Input: Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16. 1 suggest that this region harbors a gene (s) important to the development of autism.

autism spectrum disorder


Input: Overexpression of CFTR in prostate cancer cell lines suppresses tumor progression (cell growth, adhesion and migration), whereas knockdown of CFTR leads to enhanced malignancies both in vitro and in vivo.

CFTR

tumor progression


Input: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

nonepidermolytic palmoplantar keratoderma

nonepidermolytic palmoplantar keratoderma


Input: CRHR2-deficient mice display anxiety-like behavior, hypersensitivity to stress, altered feeding behavior and metabolism, and cardiovascular abnormalities.

hypersensitivity


Input: Here, we identified and characterized 3 patients with rare microdeletions of 2p15-p16. 1 who presented with an autism spectrum disorder and developmental delay.

autism spectrum disorder


Input: An elevation of additional genetic defects in tumors of patients with germ-line mutation in the BRCA2 gene compared with sporadic breast tumors has been reported.

BRCA2 gene

sporadic


Input: Wistar rats were submitted to a sham operation, 60 min ischemia, or 60 min ischemia plus saline or CAPE treatment followed by 6 h reperfusion.

CAPE

ischemia


Input: In a chronic model of DMN-induced fibrosis where DMN was administered for 6 weeks and GW6604 dosed for the last 3 weeks (80 mg kg (-1) p. o., b. i. d.

DMN

fibrosis


Input: Simultaneously, presence of Th17 related cytokines (TGF-β, IL-6, IL-17 and IL-23) decreased the number of FoxP3 + Treg cells concomitantly increasing IL-17 producing CD4 + cells in lepromatous leprosy.

lepromatous leprosy


Input: Our results suggest that inactivation of MLL3 and TET2 may play an important role in the tumorigenesis process of HTLV-I-induced ATL.

tumorigenesis


Input: The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).

MTP

blood spots


Input: Our data confirm the association of DEPDC5 with sporadic FCD but also implicate this gene for the first time in HME.

HME

sporadic


Input: Secretin increased heart rate by 14 beats/min (20% above base-line) and this also was not altered by propranolol pretreatment.

Secretin

increased heart rate

Secretin

increased heart rate


Input: Clopidogrel pharmacokinetics and pharmacodynamics vary widely despite rigorous exclusion or control of known disease, polymorphisms (CYP2C19, CYP3A5, ABCB1, PON1), noncompliance, co-medications, diet, smoking, alcohol, demographics, and pre-treatment platelet hyperreactivity.

smoking


Input: Remarkably, metformin targeted the side population of T-ALL cell lines as well as a putative leukemia-initiating cell subpopulation (CD34 (+)/CD7 (-)/CD4 (-)) in patient samples.

leukemia


Input: In two other sporadic tumors (20%), loss of heterozygosity (LOH) of the p53 gene occurred.

p53 gene

sporadic


Input: LEF-1 was aberrantly upregulated in premalignant Tcf7 (-/-) early thymocytes and lymphoma cells.

premalignant


Input: A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

ATM

ataxia-telangiectasia

ATM

ataxia-telangiectasia


Input: Inflammatory bowel disease increases the risks of colon cancer and colitis-associated cancer (CAC).

CAC

colon cancer


Input: Furthermore, CTS inhibited NF-kappaB translocation, expression of pro-inflammatory cytokines (TNF-alpha, IL-1beta, IL-6), neutrophil infiltration and MPO activity in ischemic myocardial tissues.

TNF-alpha

translocation


Input: Quantitative multiplex methylation-specific PCR of 11 genes involved in breast carcinogenesis (RARB, RASSF1, TWIST1, CCND2, ESR1, SCGB3A1, BRCA1, BRCA2, CDKN2A, APC, CDH1) was carried out on 32 BRCA1-associated and 46 sporadic breast carcinomas and on normal breast tissue from seven BRCA1 mutation carriers and 13 non-carriers.

sporadic


Input: Exons 8, 9, 13, and 17 of c-KIT and exons 12, 14, and 18 of PDGFRA had no abnormalities detected by electrophoresis and sequencing did not reveal any mutations, other than synonymous single nucleotide polymorphisms (SNPs) found in exon 11 of c-KIT and exons 12 and 14 of PDGFRA.

PDGFRA

abnormalities


Input: LD mapping showed nominally significant association in NTRK3, FLJ12484, RHCG, DKFZp547K1113, VPS33B, SV2B, SLCO3A1, RGMA, and MCTP2 with MDD-RE.

MDD-RE

MDD-RE


Input: Histone modifications were assessed by chromatin immunoprecipitation (ChIP) assay using antibodies against AcH3, AcH4, H3K4 and H3K9. sFRP2 was frequently repressed in primary cancers and in RCC cells.

RCC

RCC


Input: Lumican maps within the chromosome 12q21-q23 autosomal dominant high grade myopia-3 (MYP3) interval, and fibromodulin maps to chromosome 1q32.

fibromodulin

myopia


Input: Because CPA4 was originally identified as a protein induced in a prostate cancer cell line (PC-3) by histone deacetylase inhibitors, and was located at the putative prostate cancer-aggressiveness locus at 7q32, we investigated its imprinting status in fetal tissues and in adult benign hypertrophic prostate (BPH).

aggressiveness


Input: The aim of the present study was to investigate the effects of a 3-week residential multidisciplinary non-pharmacological treatment program (including individually prescribed aerobic exercise and cognitive-behavioral therapy) on fibromyalgia symptoms and hypothalamic-pituitary-adrenal (HPA) axis function.

HPA

fibromyalgia


Input: Interestingly, serum starvation of NIH 3T3 cells expressing the ERBB4 mutants only moderately increased the phosphorylation of canonical ErbB signaling pathway effectors Erk1/2 and Akt as compared with wild-type ERBB4.

starvation


Input: Despite the unaltered infarct size in nude rats, IPostC increased levels of phosphorylated Akt (p-Akt) and Akt isoforms (Akt1, Akt2, Akt3), and p-mTOR, p-S6K and p-4EBP1 in the mTOR pathway, as well as growth associated Protein 43 (GAP43), both in the peri-infarct area and core, 24 h after stroke.

infarct


Input: These data establish that the protein kinase PKN1 inhibits Wnt/β-catenin signaling and sensitizes melanoma cells to cell death stimulated by WNT3A.

melanoma


Input: Antigen-specific T cell immune response was further confirmed ex vivo by detection of IL-2-and IFN-gamma-producing CD4 (+) T cells, and in vivo by measuring increased levels of IFN-gamma in the serum and delayed-type hypersensitivity (DTH) responses.

hypersensitivity


Input: In conclusion, NAT2 rs1799930 polymorphism is an important factor of lung squamous carcinoma resistance in Chinese smoking males.

smoking


Input: These results are consistent with our previous findings in gastric cancer and support the hypothesis that genetic variants in TGFB1 and TGFBR2 may modulate the risk of ESCC.

ESCC

ESCC


Input: The t (12; 21) translocation resulting in the TEL-AML1 gene fusion is found in 25% of childhood B-cell precursor (BCP) acute lymphoblastic leukemias (ALL).

BCP

translocation


Input: CLD patients without cirrhosis showed normal RBP4 concentrations, which correlated with serum glucose and insulin secretion and inversely correlated with insulin sensitivity.

insulin sensitivity


Input: The highest tumor-to-blood ratio (T/B) for medullary thyroid carcinoma (MTC) was 360; for follicular adenoma (FA), 190; for Hurthle cell adenoma (HCA), 140; and for Hurthle cell carcinoma (HCC) and papillary carcinoma (PC), 70.

HCC

papillary carcinoma


Input: Thus hypotension-evoked OT secretion may contribute to cardiovascular homeostasis by enhancing baroreceptor signals that stimulate increases in renin secretion, vasopressin secretion, and heart rate during arterial hypotension in rats.

renin

hypotension

renin

hypotension


Input: As we show that the expression of IL4I1 by a monocytic cell line inhibits T-cell proliferation and production of IFN-gamma and inflammatory cytokines, we propose that IL4I1 participates in the downregulation of Th1 inflammation in vivo.

inflammation


Input: We found that 1) the hypercalciuria and hypermagnesuria and decline (P < 0. 05) in plasma [Ca2 +] o and [Mg2 +] o that occur with AldoST were not altered by the Ca2 +-supplemented diet alone or with PTx; 2) the rise (P < 0. 05) in plasma PTH with AldoST, with or without the Ca2 +-supplemented diet, was prevented by PTx; 3) increased (P < 0. 05) PBMC [Ca2 +] i and H2O2 production, increased total Ca2 + in heart and skeletal muscle, and fall in bone Ca2 + and Mg2 + and plasma alpha1-antiproteinase activity with AldoST were abrogated (P < 0. 05) by PTx; and 4) gp91 (phox) activation in right and left ventricles at 4 wk of AldoST was attenuated by PTx.

PTH

fall


Input: Metabolism dysfunctions caused by ALR defection might be a crucial mechanism for aspermatogenesis of cryptorchidism.

ALR

aspermatogenesis


Input: Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding.

Insulin receptor

leprechaunism

Insulin receptor

leprechaunism


Input: Intraperitoneal injection of LSD1 inhibitor pargyline from 3 d to 14 d after inoculation of MRMT-1 cancer cells reduced bone cancer pain behaviors.

cancer pain


Input: In conclusion, heparin induces the transient production of anti-H/PF4 antibodies in children undergoing hemodialysis, but other abnormalities probably contribute to hypercoagulability.

abnormalities


Input: Among nonsmokers, the HPRT mutational spectra in healthy population controls and lung cancer patients were similar, but there was a marginally significant difference (P = 0. 07) in the distribution of base pair substitutions between smoking controls and patients.

HPRT

smoking


Input: The genetic factor, NAT2 polymorphism, may interact with environmental factor, smoking, to confer different susceptibilities to ALC.

smoking


Input: We report the occurrence of bilateral ectasia after PRK in a patient with asymmetric bowtie topographies.

PRK

ectasia


Input: Mutation analysis of sporadic MTC did not reveal any sequence variants in NTRK2 but did reveal 3 variants in NTRK3, c. 573C > T (N191N, exon 5), c. 678T > C (N226N, exon 6) and c. 1488C > G (A496A, exon 12) occurring among 19 chromosomes (31%), 1 chromosome (2%) and 24 chromosomes (39%), respectively.

sporadic


Input: Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Hunter syndrome

Hunter syndrome


Input: Individuals with HCC presented higher TNF-α/IL-10 ratio than those with fibrosis grade F4, F3 or F0 + F1 + F2 (p = 0. 0003, p < 0. 0001, p < 0. 0001, respectively).

HCC

fibrosis


Input: The inhibition of the VEGF-induced leukostasis by PEDF is most likely responsible for the low incidence of capillary occlusion and retinal neovascularization in SDT rats.

PEDF

retinal neovascularization


Input: Only circulating IGF2R, age, and BMI were independently associated with the degree of insulin resistance, as assessed by the HOMA model.

insulin resistance


Input: Most of the 38 microsatellite markers did not display microsatellite instability (MSI) in more than 30% of the tumor samples, except D9S942 (p14ARF, p15INK4b, p16INK4a loci) and Bat26, which showed frequency at 32 and 41%, respectively.

microsatellite instability


Input: Overexpression of MUC5AC, MUC5B and MUC2 have been described in asthma secretions, but identification of defined biochemical abnormalities and polymorphisms of mucin genes linked to asthma remains elusive.

abnormalities


Input: Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.

porphobilinogen deaminase

Acute intermittent porphyria

porphobilinogen deaminase

Acute intermittent porphyria


Input: Although these SNPs are associated with NSCLC risk in patients with a tobacco-smoking habit, this study demonstrated that XRCC1 and CLPTM1L gene SPNs are not linked with NSCLC risk in non-smoking patients, indicating that molecular mechanisms of NSCLC betwee tobacco smokers and non-smokers may be different.

smoking


Input: He had a depressed affect, postural tremor, right arm weakness with partial denervation on EMG, and borderline-low sensory nerve action potential (SNAP) amplitudes.

SNAP

postural tremor


Input: The nucleotide (nt) variations in the promoter region of the gamma-globin genes, HS-111 and 3' HS1 regions, were studied in Iranian patients with beta-thalassemia intermedia (beta-TI), beta-thalassemia major (beta-TM) and healthy individuals.

thalassemia major


Input: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR).

ARC) syndrome

ARC) syndrome


Input: In addition, a new heterozygous KISS1R variant (p. E252Q) was identified in a male patient with sporadic nIHH.

sporadic


Input: The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23.

circadian rhythms


Input: To evaluate whether hyperglycaemia in two lean patients with primary severe insulin resistance due to insulin receptor (IR) mutations and diabetes mellitus could be reduced by supplement of rosiglitazone for 180 days and secondary, to evaluate the effects on plasma NEFA, TG, Apo B, PAI-1 and serum insulin.

NEFA

insulin resistance


Input: Finally, adipose tissue autotaxin expression was significantly up-regulated in patients exhibiting both insulin resistance and impaired glucose tolerance.

autotaxin

insulin resistance


Input: The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for.


Input: We observed a gradual increase in methylation from sporadic control tissue (median cumulative methylation index (CMI) 568. 19) through normal tissue and from areas of p53 accumulation in BRCA carriers (median CMI 687. 54 and 676. 72) to FTC (median CMI 780. 97).

sporadic


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

muscle atrophy


Input: We analysed the relationship between TNFalpha expression, adipocyte LPL activity, insulin resistance and leptin in this population.

LPL

insulin resistance


Input: VEGF SNP-634 genotype was associated with the prevalence and duration of sunitinib-induced hypertension (as defined by systolic pressure ≥ 150 mmHg and/or diastolic pressure ≥ 90 mmHg) in both univariable analysis (P =. 03 and. 01, respectively) and multivariable analysis, which adjusted for baseline BP and use of antihypertension medication (P =. 05 and. 02, respectively).

VEGF

systolic pressure


Input: PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion.

PORCN

tumorigenesis


Input: Transcript levels of spinophilin, a protein enriched in dendritic spines that modulates excitatory neurotransmission, were increased 22% in dorsolateral prefrontal cortex but were unchanged in anterior cingulate cortex in schizophrenia.

spinophilin

schizophrenia

spinophilin

schizophrenia


Input: Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.

thyroid cancer

thyroid cancer


Input: The variable appearance and/or description of haploinsufficiency for obesity susceptibility in the WAGR syndrome mainly depends on the critical region located within 80 kb of exon 1 of BDNF.

BDNF

WAGR syndrome

BDNF

WAGR syndrome


Input: Lastly, in view of the potent antagonist action of GR127935, the sumatriptan-induced hypotension in rabbits seems to be mediated by 5-HT (1B/D) receptors.

5-HT (1B

hypotension

5-HT (1B

hypotension


Input: A patient under Taxol and granulocyte colony stimulating factor (G-CSF, Neupogen) treatment for metastatic breast carcinoma of the liver experienced repeated suicidal depression on days 10 and 11 of therapy.

granulocyte colony stimulating factor

breast carcinoma

granulocyte colony stimulating factor

breast carcinoma


Input: In this study, total RNA was extracted from 30 tumor tissues and 30 nontumor tissues of esophageal tumor margins, using RNX-plus solution.

RNX

esophageal tumor


Input: In summary, in transgenic mice with podocyte COX-2 overexpression, PAN increased albuminuria and induced foot process fusion.

albuminuria

albuminuria


Input: Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.

TP53 genes

sporadic


Input: In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.

regression


Input: Our study demonstrates that EDAR is implicated in about 25% of non-ED1 HED, and may account for both autosomal-dominant and-recessive forms.

EDAR

HED

EDAR

HED


Input: Our results suggested that RhoE expression in gastric cancer cells was regulated by histone deacetylation, but not by DNA methylation, at the epigenetic level.

RhoE

gastric cancer


Input: To assess the role of this protein in tumorigenesis, we investigated whether induced overexpression of bamacan/SMC3 could transform normal fibroblasts.

tumorigenesis


Input: A phase I clinical trial in patients with advanced carcinoma was conducted, using a replication-defective avipox vaccine containing the gene for the human carcinoembryonic antigen (CEA).

CEA

advanced carcinoma


Input: Here, we show that oral administration of resveratrol, which leads to activation of an NAD (+)-dependent protein deacetylase SIRT1, suppresses cardiac hypertrophy and fibrosis and restores cardiac diastolic function in dystrophin-deficient mdx mice.

dystrophin

cardiac hypertrophy

dystrophin

cardiac hypertrophy


Input: Combination therapy with IMC-C225 (1 mg) and the MTD of CPT-11 (150 mg/kg) resulted in a regression rate of 100 and 60% of established DLD-1 and HT-29 tumors, respectively.

DLD

regression


Input: To assess the relationship between paclitaxel-resistance and class I beta-tubulin gene mutation in breast cancer, Japanese patients with breast cancer were screened for the class I beta-tubulin gene mutation.

class I beta-tubulin

breast cancer


Input: Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH.

sarcomas


Input: On Day 21, there was significant aortic neointima formation with increased oxidative DNA damage by immunostaining with 8-hydroxy-2'-deoxyguanosine and enhanced MMP-2 and MMP-9 expressions by Western blotting, which were significantly reduced by oral administration of carvedilol (20 mg/kg/day) or probucol (100 mg/kg/day).

neointima formation

neointima formation


Input: Expression of EP2 and EP4 in human gastric carcinoma cells, however, has not been examined.

gastric carcinoma


Input: Two patients each had either pulmonary chondroma or paraganglioma (CT), but none of the examined cases had SDH germline mutations (CSS) or somatic KIT/PDGFRA or BRAF mutations.

PDGFRA

pulmonary chondroma


Input: Several components of the inflammatory system, including cytokines, chemokines, cell adhesion molecules and neuropeptide substance P, have been reported to participate in adhesion formation.

substance P

adhesion


Input: Then we applied this approach to screen a group of idiopathic infertile men in which the DAZ genes presence was previously assessed by standard PCR analysis.

DAZ

infertile


Input: The prevalence of TTV detected by PCR primers set A only, set B only, and in total (by either set A or B) was 11 (31%), 31 (86%), and 31 (86%) of 36 patients with chronic hepatitis; 2 (40%), 4 (80%), and 4 (80%) of 5 with cirrhosis; 11 (39%), 17 (61%), and 22 (79%) of 28 with hepatocellular carcinoma; and 9 (18%), 39 (78%), and 40 (80%) of 50 volunteer blood donors, respectively.

TTV

chronic hepatitis


Input: Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B).


Input: Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

STAMBP

microcephaly-capillary malformation syndrome

STAMBP

microcephaly-capillary malformation syndrome


Input: As compared with wild-type littermates, CCR2-/-mice had a decrease in granuloma size accompanied by a dramatic decrease in the level of interferon gamma in the draining lymph nodes.

granuloma


Input: BACKGROUND: Whether the mutant allele frequency (MAF) may also have predictive implications for tyrosine kinase inhibitor (TKI) therapy in patients with advanced epidermal growth factor receptor (EGFR)-mutated lung adenocarcinoma (AELAd) remains unknown.

MAF

lung adenocarcinoma


Input: Histone modifications were assessed by chromatin immunoprecipitation (ChIP) assay using antibodies against AcH3, AcH4, H3K4 and H3K9. sFRP2 was frequently repressed in primary cancers and in RCC cells.

RCC

RCC


Input: These include previously unrecognized putative cancer drivers (RPS15, IKZF3), and collectively identify RNA processing and export, MYC activity, and MAPK signalling as central pathways involved in CLL.

CLL

CLL


Input: Tumor suppressor FOXO3 participates in the regulation of intestinal inflammation.

inflammation


Input: The tissue formation process in nodular palmar fibromatosis (Morbus Dupuytren) was investigated by the demonstration of fibronectin splice variants (ED-A and ED-B fibronectin), de novo glycosylated fibronectin and laminin isoforms (A, M, B1, B2, s chains) in association to the proliferative activity (Ki-67 antigen) and the occurrence of myofibroblast phenotype (alpha-smooth muscle actin, desmin).

smooth muscle actin

palmar fibromatosis


Input: Tissue microarray slides containing totally 80 cores with 19 tissues of HCC, 1 tissue of hepatocholangiocarcinoma, 10 tissues of liver cirrhosis and 10 normal liver tissues in duplicates were analyzed for expression of RPS27A and YB-1 by immunohistochemistry.

liver cirrhosis


Input: Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

alpha-N-acetylgalactosaminidase

Schindler disease

alpha-N-acetylgalactosaminidase

Schindler disease


Input: TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

thoracic aortic aneurysms and dissections

thoracic aortic aneurysms and dissections


Input: AMH is a more accurate predictor of individual TTM than mother' s age at menopause.

AMH

age at menopause


Input: Yorkshire pigs (n = 12) underwent ischemia-reperfusion (90 minutes ischemia and 120 minutes reperfusion), where regional preload recruitable stroke work (sonomicrometry), interstitial MT1-MMP activity (microdialysis), Smad2 abundance (immunoblotting), and interstitial microRNA-133a (polymerase chain reaction) were determined within the ischemia-reperfusion and remote regions.

ischemia


Input: W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.

renal hypouricemia

renal hypouricemia


Input: Taken together these results show that CNT3 and ENT2 play a key role in the transport of 6-MP and 6-TG by leukemia cells.

leukemia


Input: To assess the contributions of hypertension, left ventricular hypertrophy (LVH), the renin-angiotensin-aldosterone system (RAS), and the sympathetic nervous system to these changes, ventricular expression of AC V mRNA was measured at different ages in spontaneously hypertensive rats (SHRs).

AC V

hypertension

AC V

hypertension


Input: Spinal cord trauma was associated with a significant increase in oxidative stress, and activation of NF-kappaB, AP-1 and CREB, as well as overexpression of MCP-1 and TNF-alpha in both the thoracic and lumbar regions.

CREB

thoracic


Input: Other common SNPs of AURKA should be investigated in further studies because of its location on a prostate cancer susceptibility locus.

AURKA

prostate cancer susceptibility


Input: The present study demonstrates that initiation of HAART in infected individuals as early as 10 days after the onset of symptoms of primary HIV-1 infection did not prevent generation of latently infected, resting CD4 (+) T cells carrying integrated HIV-1 DNA as well as infectious HIV-1 despite the successful control of plasma viremia shortly after institution of HAART.

viremia


Input: Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.

sporadic


Input: To identify the molecular mechanisms of MIA regulating pigmentation, MITF and PAX3, two positive regulators of Trp-1 and tyrosinase transcription, and PIAS3, a negative regulator of MITF activity, were analyzed.

MIA

pigmentation


Input: We measured the VFA and SFA of 1424 obese Japanese subjects (BMI ≥ 25 kg/m (2), 635 men and 789 women) who were genotyped for 13 single nucleotide polymorphisms (SNPs) reported by recent GWASs, namely, TNNI3K rs1514175, PTBP2 rs1555543, ADCY3 rs713586, IRS1 rs2943650, POC5 rs2112347, NUDT3 rs206936, LINGO2 rs10968576, STK33 rs4929949, MTIF3 rs4771122, SPRY2 rs534870, MAP2K5 rs2241423, QPCTL rs2287019, and ZC3H4 rs3810291.

obese


Input: Elevated levels of TWEAK in skeletal muscle promote visceral obesity, insulin resistance, and metabolic dysfunction.

TWEAK

insulin resistance


Input: Prostate apoptosis response-4 (Par-4) is a unique pro-apoptotic molecule that is capable of selectively inducing apoptosis in cancer cells when over-expressed, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models.

regression


Input: Our data implicate PDK-1 and downstream components of the PDK-1 signaling pathway as promising therapeutic targets for the treatment of breast cancer.

breast cancer

breast cancer


Input: The results of the present study suggest that MMP-2 and MMP-9 inhibition in the presence of COX inhibitor prevents the development of experimental diabetic neuropathy in rats and can be a potential approach for the treatment.

diabetic neuropathy

diabetic neuropathy


Input: On the other hand, TMP enhanced the expression of inhibitor κappa B and anti-inflammation cytokine interleukin-10.

TMP

inflammation


Input: The non-silent polymorphisms of MGMT (84: Phe, 143: Val, 178: Arg) and TDG (199: Ser, 367: Met), and the functional MGMT enhancer polymorphism, did not show any statistically significant association with lung cancer risk in our case-control analysis, but due to the relatively small number of individuals, strong conclusions on cancer risk association or lack thereof cannot be made.

TDG

lung cancer


Input: There was no detectable serum anti-GM-CSF antibody in 50 outpatients with advanced silicosis who did not have PAP, suggesting that anti-GM-CSF antibody is directly linked to PAP but not to silicosis.

PAP

silicosis


Input: Seventy proteins were altered by dehydration, including 45 in the NIL and 25 in the SON.

SON

dehydration


Input: We collected and analyzed 12 aneurismal and 9 peripheral arteries (superficial temporal (STA) and middle meningeal artery (MMA) specimens from ruptured aneurysm group patients (13 cases), 10 aneurismal and 12 STA and MMA samples from unruptured aneurysm group patients (14 cases) and 5 STA and MMA artery specimens from control group patients (4 cases).

STA

ruptured aneurysm


Input: Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

CODAS syndrome

CODAS syndrome


Input: Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.

cytokeratin 7

renal oncocytoma


Input: Loss of this protection through conformational rearrangement in the metal-deficient enzyme could be a toxic property common to mutants of SOD1 linked to FALS.

FALS

FALS


Input: The aim of this study was to investigate genetic changes of the TP53 (tumor protein p53) and FHIT (fragile histidine triad) genes in precursor lesion such as chronic esophagitis (CE) and in esophageal squamous cell carcinoma (ESCC).

fragile histidine triad

chronic esophagitis


Input: This study suggests that EPO exerts renoprotection on an experimental model of LPS-induced AKI.

EPO

AKI

EPO

AKI


Input: The TGIF mRNA and protein expressions were statistically significantly higher in the leiomyoma compared with the matched, unaffected myometrial tissues in both phases of the menstrual cycle.

TGIF

leiomyoma


Input: Immunohistochemical analysis of MDM2 and p53 proteins on paraffin embedded sections from 64 surgically resected ESCCs and matched histologically normal tissues showed overexpression of MDM2 protein in 23/64 (36%) ESCCs, while the histopathologically normal esophageal tissues did not show detectable level of MDM2 immunoreactivity.

esophageal


Input: Mechanistically, BRCA1 bound to the TWIST promoter, suppressing its activity and inhibiting EMT in mammary tumor cells.

EMT

mammary tumor


Input: The results of the present study suggest that t (1; 3) (p36; p21) in hematologic diseases is associated with prior exposure to mutagens, including alkylating agents.

hematologic diseases


Input: Polymorphisms related to ORMDL3 are associated with asthma susceptibility, alterations in transcriptional regulation of ORMDL3, and changes in TH2 cytokine levels.

asthma susceptibility


Input: The sites of increased proteolytic activity may contribute to localized neovascularization and promote the rapid breakdown of ECM components, which result in mural weakening and eventual rupture of untreated aortic aneurysms.

ECM

aortic aneurysms


Input: PTEN (phosphatase and tensin homologue deleted on chromosome 10) has been shown to be inactivated in a wide variety of cancers, and the role of this gene as a tumor suppressor has been well established.

tensin

cancers


Input: In summary, TNFalpha inactivates FOXO3 in intestinal epithelia through the PI3K and IKK pathways and FOXO3 inactivation leads to the upregulation of IL-8 in vitro; in vivo Foxo3 is in the cytosol of inflamed colonic epithelia and Foxo3 deficiency leads to severe intestinal inflammation.

inflammation


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: By immunophenotyping, myeloid leukemia was diagnosed in five patients, including one patient with FAB-L1 leukemia who typed as terminal transferase (TdT) +, CD7 T-cell antigen + acute myelomonocytic leukemia.

terminal transferase

myeloid leukemia


Input: The occurrence of the A1166C transition in the AT1 receptor gene and the A-1332G transition in the AT2 receptor gene were evaluated and compared with the incidence in normal controls with no urological abnormalities.

abnormalities


Input: The genotypes of XRCC1 gene rs25487 polymorphism (P = 0. 003) differed significantly between patients and controls, even after the Bonferroni correction (P < 0. 05/5), and this polymorphism was significantly associated with gastric cancer after adjusting for age, sex, body mass index, smoking, drinking, especially under a dominant model (odds ratio or OR; 95% confidence interval or CI; P 1. 59; 1. 20-2. 00; 0. 001).

XRCC1 gene

smoking


Input: Those with USH2 have moderate to severe congenital hearing loss, non-vestibular dysfunction and a later onset of RP.

vestibular dysfunction


Input: New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

XNP

ATR/X syndrome

XNP

ATR/X syndrome


Input: In contrast, CD80-transfected AML cells induced T-cell proliferation of HLA-identical bone marrow donor peripheral blood mononuclear cell (PBMC) in primary MLR, allowing the generation of leukemia reactive CD4 (+) T-cell lines and clones.

leukemia


Input: Mutation was associated to a significant fall in post-fibrinolysis concentration TAFI antigen and functional TAFI (p = 0. 01) and (p = 0. 02), and lower frequency of reperfusion.

TAFI

fall


Input: Vast majority of the soft tissue cases share the same translocation and the resulting EWSR1-CREB1 gene fusion as background pathogenetic alteration.

translocation


Input: Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

GNPTG

mucolipidosis type III gamma

GNPTG

mucolipidosis type III gamma


Input: The aim of this study was to investigate the local and systemic expression of CC-chemokine ligand 3 (CCL3) and its receptors (CCR1 and CCR5) in tissue samples and peripheral blood mononuclear cells of recurrent aphthous stomatitis (RAS) patients.

recurrent aphthous stomatitis


Input: After adjustment for age, gender, and vascular risk factors, the ACT-TT genotype remained independently associated with HS (OR 2. 80, 95% CI 1. 19 to 6. 58, compared with asymptomatic control subjects; OR 1. 79, 95% CI 0. 95 to 3. 40, compared with symptomatic control subjects).

ACT

asymptomatic


Input: Higher TAP2 expression was associated with the risk allele in both FL and DLBCL tumors.

tumors


Input: Some HCC cells produced the crucial bone resorption regulator RANKL.

HCC

bone resorption


Input: Cowden syndrome (CS) or multiple hamartoma syndrome (MIM 158350) is an autosomal dominant disorder with an increased risk for breast and thyroid carcinoma.

MIM

multiple hamartoma syndrome


Input: In children carrying an FLG mutation, the threshold level for peanut SPT sensitization was 0. 92 μg of peanut protein per gram (95% CI, 0. 70-1. 22 μg/g), that for CRD sensitization was 1. 03 μg/g (95% CI, 0. 90-1. 82 μg/g), and that for peanut allergy was 1. 17 μg/g (95% CI, 0. 01-163. 83 μg/g).

FLG

peanut allergy


Input: Matrilysin mRNA expression in sporadic adenomas correlated with the degree of dysplasia and the size of the mass, whereas most of the adenomas in patients with familial adenomatous polyposis coli expressed matrilysin mRNA irrespective of adenoma size or degree of dysplasia.

matrilysin

sporadic


Input: Brd4-depleted mice display reversible epidermal hyperplasia, alopecia, and decreased cellular diversity and stem cell depletion in the small intestine.

alopecia

alopecia


Input: In addition, the proliferation index in mammary gland carcinomas as assessed by PCNA was found to correlate with the overexpression of Cyclin H by IHC analysis (P & lt; 0. 05, Spearman Rank Order Correlation).

Cyclin H

carcinomas

Cyclin H

carcinomas


Input: The status of p53 was investigated in breast tumours arising in germ-line carriers of mutant alleles of BRCA1 and BRCA2 and in a control series of sporadic breast tumours.

sporadic


Input: Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations).

skin hyperpigmentation


Input: RUNX2 mutations in cleidocranial dysplasia patients.

cleidocranial dysplasia

cleidocranial dysplasia


Input: Bladder wet weight was measured to document the degree of hypertrophy after BOO.

BOO

weight


Input: To evaluate the role of baicalin in ulcerative colitis (UC) with regard to the CD4 (+) CD29 (+) T helper cell, its surface markers and serum inflammatory cytokines.

ulcerative colitis


Input: In this review, we describe major clinically relevant genetic and epigenetic abnormalities in GBM-such as mutations in IDH1/2, EGFR, PDGFRA, and NF1 genes-altered methylation of MGMT gene promoter, and mutations in hTERT promoter.

PDGFRA

abnormalities


Input: These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome.

Kabuki syndrome

Kabuki syndrome


Input: Most (73. 3%) of the BRCA1-associated lesions were classified as BI-RADS category 4, whereas most of the sporadic and BRCA2-associated lesions were classified as BI-RADS category 5 (66. 2% and 72. 2%).

sporadic


Input: It was suggested that the CYP2A6 * 4C allele may prevent the carrier from smoking, and being a CYP2A6 * 1A/* 1B heterozygote and the CCK T allele may be risk factors for developing smoking behavior.

CCK

smoking


Input: Re-expression of RASSF1A by 5-Aza-CdR induced demethylation of the promoter region in human biliary tract carcinoma cells.

biliary tract carcinoma


Input: If dysregulated, the composition of the SPCA1 isoform pool could diverge from the physiological status, affecting cytosolic Ca2 +-signaling, and in turn perturbing cell division, leading to cell death or to neoplastic transformation.

neoplastic transformation


Input: Among many published studies of specific IgE response or atopy, only a few showed positive marginal effects for 6 potentially functional single nucleotide polymorphisms (SNPs; C-590T in the IL4 gene, C-1055T and Arg130Gln in the IL13 gene, and Ile50Val, Ser478Pro, and Gln551Arg in the IL4RA gene).

IL13 gene

atopy


Input: While region-specific changes in the expression of most NMDAR subunits have been reported in schizophrenia, possible abnormalities of NR3A expression have not been investigated.

abnormalities


Input: The PLS patients had, next to the absence of cathepsin C activity in polymorphonuclear leukocytes (PMNs), no activity of the three serine proteinases elastase, cathepsin G and proteinase 3.

cathepsin C

PLS

cathepsin C

PLS