Input: In the latter cells, growth arrest evidenced only under adhesion-restrictive conditions correlated with down-regulation of cyclin D3 and anti-apoptotic bcl-2.

cyclin D3

adhesion


Input: Our study also suggests that the levels of DNA repair factors 53BP1, BRCA1 and RAD51 could potentially serve as biomarkers to identify laminopathies that present with genomic instability.

genomic instability


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

VHL

pulmonary arterial hypertension

VHL

pulmonary arterial hypertension


Input: Hypothesizing that the opening of tight junctions due to the disappearance of the tight junction proteins occludin and zona occludens-1 (ZO-1) in damaged endothelia allows macrophage migration, leading to cerebral aneurysm formation, we investigated the role of tight junction proteins.

occludin

zona


Input: In the three ABCC6 mutant forms examined, the loss of transport activity suggests that these mutations result in a PXE phenotype through a direct influence on the transport activity of this ABC transporter.

PXE

PXE


Input: The degradation of MCL1 was blocked in patient-derived tumour cells that lacked FBW7 or had loss-of-function mutations in FBW7, conferring resistance to antitubulin agents and promoting chemotherapeutic-induced polyploidy.

polyploidy


Input: Toxic epidermal necrolysis in a patient with severe aplastic anemia treated with cyclosporin A and G-CSF.

G-CSF

Toxic epidermal necrolysis

G-CSF

Toxic epidermal necrolysis


Input: STAP-2 interacts with and modulates BCR-ABL-mediated tumorigenesis.

tumorigenesis


Input: Metaphase FISH using chromosome 20 telomeric probes and specific probes of CHRNA4 and KCNQ2 genes detects the absence of any deletion in the ring chromosome 20.

FISH

ring chromosome 20


Input: We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations.

MCD

MCD


Input: ERK1/2 mRNA expression was down-regulated in the depression model group compared with the normal control group (P & lt; 0. 01).

depression

depression


Input: In a collection of benign, premalignant and malignant endometrial lesions, a methylation profile of a complete gene panel, such steroid receptors (ERα, PR), DNA mismatch repair (hMLH1), tumor-suppressor genes (CDKN2A/P16 and CDH1/E-CADHERIN) and WNT pathway inhibitors (SFRP1, SFRP2, SFRP4, SFRP5) was investigated in order to demonstrate their pathogenetic role in endometrial lesions.

premalignant


Input: A total of 97 patients with urothelial cell carcinomas were examined with respect to smoking status, NAT2 (N-acetyltransferase 2), GSTM1 and GSTT1 (glutathione S-transferase Mu 1 and teta 1) genotypes distribution.

glutathione S-transferase Mu 1

carcinomas


Input: Excretion of porphyrins and residual UROD activity in erythrocytes were measured and compared with those of other patients with HEP.

UROD

HEP

UROD

HEP


Input: Plasma PYY was highly heritable (P < 0. 0001), and genetic pleiotropy was noted between plasma PYY and body mass index (BMI) (P = 0. 03).

PYY

body mass index


Input: Hypoxia increases VEGF protein and mRNA levels in monocyte-derived macrophages, whereas TGFbeta-1 increases VEGF protein but not mRNA under hypoxic growth conditions.

VEGF

hypoxic


Input: These results lay the foundation for the further study of its targeting and anti-HCC in vivo and provide a feasible and convenient approach to produce liver-targeting drugs for treatment of the liver diseases.

HCC

liver diseases


Input: Pathogenesis of gastritis in ileitis-prone SAMP1/Yit mice.

gastritis


Input: Eight candidate genes mapping to the breakpoint region--U2AF2, EPN1, NALP4, NALP11, NALP5, ZNF444, PTPRH, and KIAA1811--were screened for mutations in germ-line and polyp DNA from the case and from 15 PJS cases that did not harbor germ-line STK11 mutations.

polyp


Input: Therefore, in Ben-Men-1 cells with HIF-1α knock-down the effects of hypoxia, growth factors and DEX on VEGF-A production were strongly impaired.

VEGF-A

hypoxia


Input: We found that brain ischemia induced the breakdown of ErbB4 in a time-dependent manner in vivo, but not that of ErbB2.

brain ischemia


Input: Moreover we have shown that VEGF is hypoxia-inducible in retinoblastoma cells.

VEGF

hypoxia


Input: Interestingly, the frequency of p21 (wap1/cip1) variants (codon 149) in ESCCs (18 of 19 cases) with wild-type p53 was significantly higher than in tumors with p53 mutations, suggesting that this polymorphism affects the p53 pathway and may play an important role in esophageal tumorigenesis.

tumorigenesis


Input: Localization of osteoprotegerin, tumor necrosis factor-related apoptosis-inducing ligand, and receptor activator of nuclear factor-kappaB ligand in Mönckeberg' s sclerosis and atherosclerosis.

osteoprotegerin

sclerosis


Input: The objective of the present study was to analyze the influence of the I/D polymorphism of the ACE gene on the outcome of microalbuminuria in essential hypertensive patients who were receiving antihypertensive treatment.

ACE gene

microalbuminuria


Input: Circulating soluble receptor for advanced glycation end products is inversely associated with body mass index and waist/hip ratio in the general population.

receptor for advanced glycation end products

waist/hip ratio


Input: Our findings clearly indicate that, Ox-LDL significantly induced lincRNA-DYNLRB2-2 expression, which promoted ABCA1-mediated cholesterol efflux and inhibited inflammation through GPR119 in THP-1 macrophage-derived foam cells.

inflammation


Input: Indeed, there was a trend towards higher MASP-2 concentrations amongst babies with infections.

MASP

infections


Input: Comparison between IA and more advanced International Federation of Gynecology and Obstetrics stages of endometrial cancer in regard to expression levels of maspin, Pdcd4, and miR-21 did not reveal any significant differences.

maspin

endometrial cancer


Input: X-linked agammaglobulinemia (XLA), also known as Bruton' s tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections.

BTK

infections


Input: ETV6-AML1 translocation breakpoints cluster near a purine/pyrimidine repeat region in the ETV6 gene.

translocation


Input: We herein present the case of a patient with phospho-soda-induced hypocalcemia who was surprisingly diagnosed with multiple endocrine neoplasia type 1 (MEN1) caused by a heterozygous mutation in the MEN1 gene (c628_631delACAG), thus resulting in a frameshift mutation (210ThrfsX224).

MEN1 gene

hypocalcemia


Input: DNA mobility shift patterns generated by nuclear extracts from skin, scar, and keloid fibroblasts were identical at a consensus CRE at-170 of the human fibronectin promoter whereas extracts from keloid fibroblasts formed complexes at a CRE/AP-1-like sequence at-415 that differed from those generated by skin and scar fibroblast extracts.

keloid


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.

hepatitis

hepatitis


Input: We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease.

moyamoya disease

moyamoya disease


Input: TRIF (-/-) mice infected with K. pneumoniae showed impaired survival and reduced bacterial clearance, neutrophil influx, histopathologic evidence of inflammation, and TNF-alpha, IL-6, KC, MIP-2, but not LIX, expression in the lungs.

TRIF

inflammation


Input: Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism.

hormone receptor

hyperthyroidism


Input: These findings suggest that this novel variant in FTO is affecting metabolic phenotypes such as insulin resistance, which are not mediated through differences in BMI levels.

FTO

insulin resistance


Input: Amplification of 8p12-p11 is relatively common in breast cancer and several genes within the region have been suggested to affect breast tumor progression.

breast cancer


Input: Using our human in vitro model for schwannoma, we analyzed extracellular signal-regulated kinase 1/2 (ERK1/2) and AKT signaling pathways, their upstream growth factor receptors, and their role in schwannoma cell proliferation and adhesion to find new systemic therapies for these tumors that, to date, are very difficult to treat.

adhesion


Input: To report that homoplasmic deleterious mutations in the mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetazolamide.

periodic paralysis


Input: The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synthesis, in particular, SRD5A2 (A49T and V89L variants), CYP17 (MspAI variant), and the AR (CAG, GGC repeats), represent candidate risk factors for prostate cancer incidence and aggressiveness.

aggressiveness


Input: Variations for genes encoding receptors related to cold and heat sensation, such as transient receptor potential A subtype 1 (TRPA1), M subtype 8 (TRPM8), V subtype 1 (TRPV1), delta opioid receptor subtype 1 (OPRD1), catechol O-methyltransferase (COMT), and fatty acid amide hydrolyase (FAAH), were investigated in four major ethnic populations.

cold


Input: A significant difference was found between patients with a low expression of HSP27 (negative patients) and those with a high HSP27 expression (positive patients) of plasma levels both of antioxidants (GSH, p < 0. 05), and of markers of enhanced production of free radicals and cytokines (alpha GST, TNF-alpha and IL-6, p < 0. 05; MDA, 4-HNE and S-NO, p < 0. 01) as well as for alcohol use and degree of liver impairment.

alcohol use


Input: In this paper, we performed association studies between the three reported polymorphisms (Q214R, M365T and G378R) of the IL-12Rbeta1 gene or the newly identified polymorphisms (P238L, IVS9-7G > A, IVS13-121G > A, A643T, P779P and c. 3283T > G) of the IL-12Rbeta2 gene, and the development of type 1 diabetes or atopic asthma as representative Th1-and Th2-dominant diseases, respectively.

atopic asthma


Input: SNAI3 gene, was located between KIAA0233 gene and CBFA2T3 gene in human chromosome 16q24. 3, a region affected in breast cancer, gastric cancer, hepatocellular carcinoma, ovarian cancer, and therapy-related myeloid leukemia with t (16; 21) (q24; q22) translocation.

CBFA2T3 gene

gastric cancer


Input: To determine the adaptive changes in several molecules regulating muscle hypertrophy and atrophy after unloading, we examined whether unilateral lower limb suspension changes the mRNA and protein levels of SRF-linked (RhoA, RhoGDI, STARS and SRF), myostatin-linked (myostatin, Smad2, Smad3 and FLRG) and Foxo-linked (P-Akt, Foxo1, Foxo3a and Atrogin-1) mediators.

RhoGDI

atrophy


Input: Up-regulation of Fas ligand expression by human cytomegalovirus immediate-early gene product 2: a novel mechanism in cytomegalovirus-induced apoptosis in human retina.

Fas ligand

cytomegalovirus


Input: Intracerebral, rapidly growing tumors were produced by stereotactic injection of the human U87 MG glioma cell line that had been genetically modified for tracking purposes to express the Escherichia coli lacZ gene encoding beta-galactosidase.

glioma


Input: Because hepatocyte growth factor (HGF) is an important mitogen and morphogen that contributes to the repair process after tissue injury, we investigated the role of HGF in cutaneous fibrosis and pulmonary architecture defects in SSc using TSK/+ mice.

TSK

fibrosis


Input: The purpose of our study was to establish the prevalence and nature of C2orf71 mutations in a clinically well-characterized cohort of 345 sporadic and arRP French cases.

sporadic


Input: CRF elicited a wide range of behaviors, which fell into three broad categories: anxiety-like, depressive-like, and externally oriented.

CRF

anxiety

CRF

anxiety


Input: Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.

MITF

Waardenburg syndrome type 2

MITF

Waardenburg syndrome type 2


Input: SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract.

INI

carcinomas


Input: The p53 mutation in chronic myeloid leukemia (CML) led to decreased overall survival and therapy resistance which was also closely correlated with the downstream proto-oncogenes BCL-2, TCL-1 and MCL-1.

TCL

chronic myeloid leukemia


Input: In this study, we aimed to explore the impact of DNA methylation profile in BCL2/E1B adenovirus interacting protein 3 (BNIP3), extracellular superoxide dismutase (EC-SOD) and glutathione-S-transferase P1 (GSTP1) on the oxidative stress in CAD.

EC-SOD

adenovirus


Input: In addition, 16 cases of mass-forming endometriosis, 11 cases of usual endometriosis, and six endometriomas were investigated by fluorescence in situ hybridization (FISH) for HMGA1 and HMGA2 loci, performed on paraffin-embedded thin tissue sections with custom-designed probes.

FISH

endometriosis


Input: The latencies of ERP components N2 and P3 were prolonged, and the P3 amplitude was lower in the PSD group compared to the control stroke group and healthy controls (p < 0. 01).

PSD

stroke


Input: We determined microsatellite instability (MSI), CIM, and expression of MLH1 and MGMT in 3 CD-associated small bowel carcinomas and corresponding non-neoplastic mucosa.

MGMT

non-neoplastic


Input: Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.

familial idiopathic basal ganglia calcification

familial idiopathic basal ganglia calcification


Input: Hepatic Cu accumulation was associated with inflammation, as indicated by histopathology and elevated serum alanine aminotransferase (ALT) and liver tumor necrosis factor alpha (Tnf-α) levels.

alanine aminotransferase

liver tumor


Input: In conclusion, global protein profiling is an efficient approach that enabled us to identify a catalytic fragment ofvitronectin as a new serum marker of HCC in patients with chronic liver diseases.

HCC

liver diseases


Input: Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.

pituitary hormone deficiency


Input: Ectopic SIPL1 expression protected human U87 glioma cells from PTEN-mediated growth inhibition and promoted the formation of HeLa cell-derived xenograft tumors in immunocompromised mice.

glioma


Input: ETHE1, result in ethylmalonic encephalopathy, an inborn error of metabolism.

ethylmalonic encephalopathy

ethylmalonic encephalopathy


Input: In this study, we investigated the role of apoptosis and autophagy in CPZ-induced cytotoxicity in U-87MG glioma cells.

CPZ

glioma


Input: Image studies and immunoprecipitaion experiments suggest that EGF-induced NHE1 translocation to the leading-edge lamellipodia, where NHE1 interacted with actin-associated protein Ezrin, thereby remodeling cytoskeleton and stimulating cervical cancer cell migration.

translocation


Input: After ranking developmental toxicity data generated from the U. S. Environmental Protection Agency' s (EPA' s) zebrafish teratogenesis assay, we screened 26 of the most acutely toxic chemicals within EPA' s ToxCast Phase-I library in concentration-response format (0. 05-50 µM) using this HCS assay.

EPA' s

teratogenesis


Input: Using array-CGH, the present study aimed to explore genome-wide profiles of chromosomal aberrations in samples of oral cancer (OC), oral submucous fibrosis (OSF) and their corresponding normal oral mucosa from Indian (n = 18) and OC from Sri Lankan (n = 12) patients with history of BQ use, and correlate the findings to other clinicopathological parameters.

OSF

oral cancer


Input: The aims in this study were to examine the possible association of the STin2 and/or the 5-HTTLPR serotonin transporter polymorphisms in adult males with and without intellectual disabilities, and to examine the association of these polymorphisms with aggression in people with intellectual disabilities.

serotonin transporter

aggression


Input: Circulating levels of IL-10 were increased in obese people and were positively associated with weight, BMI, waist, waist-to-hip ratio, fat mass, systolic pressure, and, interestingly, the titer of adenoviruses and enteroviruses.

systolic pressure


Input: Therefore, VEGF regulation in Hep3B cells is primarily controlled by the Akt/PI3K and SP1 pathways and is independent of HIF-1 under hypoxic conditions.

VEGF

hypoxic


Input: The DBH genotypes were identified by a PCR-RFLP method, and personality traits were assessed by the Temperament and Character Inventory (TCI).

DBH

personality traits


Input: We have analyzed the btk gene of a patient with XLA and IGHD.

btk

XLA

btk

XLA


Input: In the present study, we investigated the association of genetic polymorphisms in vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-β), and interferon γ (IFN-γ) genes, which may be responsible for the hypoxia-induced VEGF-mediated neovascularization pathway for the pathogenesis of PDR.

VEGF

hypoxia


Input: Expression of the CSC markers CD44, CD133, and CD166 was induced in intestinal tumors from APC (Min/+)/K-Ras (LA2) mice, but not K-Ras (LA2) mice, indicating that APC mutation is required for CSC activation by oncogenic K-Ras mutation.

intestinal tumors


Input: Southern hybridizations with a CAS cDNA fragment and fluorescent in situ hybridization (FISH) with a P1 clone containing the CAS gene show elevated copy numbers in one leukemia, three of four colon, and in three of seven breast cancer cell lines.

FISH

leukemia


Input: Recombinant soluble human CD39 (solCD39) potently inhibited ex vivo platelet aggregation in response to ADP and reduced cerebral infarct volumes in mice following transient middle cerebral artery occlusion, even when given 3 hours after stroke.

ADP

stroke


Input: In summary, MYC rearrangement, which occurs rarely in CLL patients, is associated with increased prolymphocytes, complex cytogenetic abnormalities, and a poor prognosis.

MYC

cytogenetic abnormalities


Input: Genetic variation of myeloperoxidase gene contributes to atopic asthma susceptibility: a preliminary association study in Russian population.

myeloperoxidase gene

asthma susceptibility


Input: Gene expression analysis revealed upregulation of a set of immune-associated transcripts associated with inflammation and tumorigenesis in cells in which NQO1 was attenuated, with IL8 confirmed functionally in cell culture as one key NQO1-supported cytokine.

tumorigenesis


Input: Overall, our results suggest that genetically modified astrocytes expressing GDNF can provide neuroprotection in a rat model of Parkinson' s disease following transplantation to the SN.

GDNF

Parkinson' s disease

GDNF

Parkinson' s disease


Input: p34 (SEI-1) may promote cancer metastasis by activating the PI3K/AKT signaling pathway.

metastasis


Input: Six non-demented mutated PS1 carriers (5 with memory deficits) and 14 healthy subjects were examined with high resolution T1-weighted images for volumetry and with T2 * weighted images for MTR.

MTR

memory deficits


Input: Leukemogenesis as a new approach to investigate the correlation between up regulated gene 4/upregulator of cell proliferation (URG4/URGCP) and signal transduction genes in leukemia.

URGCP

leukemia


Input: Forty of 72 (55%) PIOL patients expressed the bcl-2 t (14; 18) translocation at the major breakpoint region.

translocation


Input: We searched for mutations in exons 18-21 of EGFR gene, codons 12 and 13 of K-RAS gene and exon 15 of B-RAF gene by high resolution melting analysis (HRMA) and pyrosequencing in 44 esophageal carcinomas.

K-RAS gene

esophageal


Input: RESULTS: Bcl-2/IgH translocation in paraffin-embedded LN tissue sections was observed in 43 (41. 7%) patients by FISH.

translocation


Input: Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells.

endometriosis

endometriosis


Input: Suppression of Tyk2 and Stat1, which are important downstream molecules for IFN-α signaling, sensitized pancreatic cancer cells to parvovirus H-1-mediated apoptosis.

pancreatic cancer


Input: Breast aspiration fluid CEA concentration and the methylation of the APC gene promoter 1A and the promoter region of the cyclin D2 gene can be used as tumor markers to overcome some of the limitations of aspiration cytology.

cyclin D2 gene

aspiration


Input: Our results suggest that colorectal tumor progression may be regulated by signaling mediated by Her2, hypoxia, and TGFβ.

TGFβ

hypoxia


Input: Myc inactivation or pharmacological suppression of ER stress alleviates fatty liver caused by SIRT7 deficiency.

fatty liver

fatty liver


Input: Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.

Obese

Obese


Input: To date, there have been no reports on the expression of AKR1B1 in endometrial cancer, while AKR1B10 has only been studied at the cellular level.

endometrial cancer

endometrial cancer


Input: Despite ~ 2-month longer progression-free and overall survival times than with CT alone, patients still progress, possibly because of alternative angiogenic " escape " pathways that emerge independent of VEGF-A, or are driven by hypoxic stress on the tumor.

VEGF-A

hypoxic


Input: PAR-1 and PAR-2 modulate cell proliferation in physiopathologic cell invasion processes, suggesting that they may play a role in the setting of cancer growth and metastasis.

PAR

metastasis


Input: When subjects were stratified accordingly to blood platelet glycoprotein IIb/IIIa genotype, in the aspirin group PlA2 carriers had greater blood loss than PlA1 homozygotes (1858 +/-932 mL vs 1216 +/-525 mL, P <. 05).

platelet glycoprotein IIb

blood loss


Input: In addition, detailed pathological examination showed significant associations with bronchioloalveolar carcinoma (BAC) component and a micropapillary pattern (MPP) (P = 0. 012 and 0. 043, respectively).

MPP

bronchioloalveolar carcinoma


Input: Here we show that systemic administration of liraglutide, a long-acting human glucagon-like peptide-1 (GLP-1) analog, significantly decreased food intake, body weight, and blood glucose levels at 24 h after its administration while having no significant effects on plasma insulin and glucagon levels in individually housed KKA (y) mice.

body weight


Input: HIV/HCV co-infected (n = 112) and HCV mono-infected patients (n = 150), receiving therapy with pegylated IFN-alpha/ribavirin, were enrolled into this study.

IFN-alpha

mono


Input: Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.

androgen receptor

Partial androgen insensitivity

androgen receptor

Partial androgen insensitivity


Input: Additionally, high BAALC expression occurs in glioblastoma, melanoma, and childhood gastrointestinal stroma tumors, suggesting an oncogenic role for BAALC.

BAALC

melanoma


Input: Human lung epithelial cells express a functional cold-sensing TRPM8 variant.

cold


Input: This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR) signalling pathways via p53, the protein Regulated in the Development and DNA damage response 1 (Redd1) and the tuberous sclerosis complex (TSC2) factors in two beta-amyloid peptide (Abeta) neurotoxicity models.

PKR

tuberous sclerosis complex


Input: Point mutation from G to A, and the GA genotype at loci-238 and 488 of the TNF-alpha gene were common in patients with advanced renal cell carcinoma.

alpha gene

advanced renal cell carcinoma


Input: Microarray profiling validates the IHC impression that MIB-1 and p53 IHC do not correlate with aggressive features in the most common type of giant adenoma.

giant


Input: Up-regulation of lipocalin 2 is associated with high-risk human papillomavirus and grade of cervical lesion at baseline but does not predict outcomes of infections or incident cervical intraepithelial neoplasia.

lipocalin 2

infections


Input: Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation.

PDGFB

translocation


Input: The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.


Input: An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RET mutations.

RET

RET


Input: We treated 32 patients with Ph1-negative chronic myeloproliferative disorders (CMD) with excessive thrombocytosis with Interferon alpha-2b (IFN alpha-2b): 26 had essential thrombocythaemia, ET (18 previously untreated, eight pretreated); one thrombocythaemia after treatment for Hodgkin' s disease (HD); two thrombocythaemia associated with non-Hodgkin' s lymphoma (NHL); three stage II idiopathic myelofibrosis (IM).

essential thrombocythaemia


Input: Also, TIL recovered from the responding lung metastasis and cultured in the presence of IL2 gave rise to autologous tumor-reactive CD4 + T-cells, whereas the nonresponsive renal tumor yielded a mixture of T-and natural killer cells.

lung metastasis


Input: Variants in/near PNPLA3, NCAN, LYPLAL1, GCKR, and PPP1R3B were tested for association with hepatic steatosis using a regression framework in each cohort and meta-analyzed.

GCKR

regression


Input: We used seven human glioma/glioblastoma cell lines: U251, KG-1C, NGM5, U87 MG, LN-Z308, NP-2 and T98G.

glioma


Input: We conclude that the neuroblastoma ND7-23 cell line is a suitable heterologous expression system for rNaV1. 8 Na + channels in that it allows stable expression of a channel with biophysical properties that closely resemble the native TTX-R currents in DRG neurones.

DRG

neuroblastoma


Input: Although preliminary, these data suggest that DOK5 and perhaps several other genes influence the magnitude of amygdala activation during face processing, particularly in those with BD.

BD

BD


Input: The mechanisms by which CARD9 provides organ-specific protection against these fungal infections are now emerging.

fungal infections


Input: Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII.

coagulation factor VIII

Hemophilia A

coagulation factor VIII

Hemophilia A


Input: A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy.

spino

rapidly progressive


Input: Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells.

breast cancer

breast cancer


Input: NADPH reductase quinone oxidoreductase 1 (NQO1) is needed to maintain a cellular pool of antioxidants, and this enzyme may contribute to tumorigenesis on the basis of studies in NQO1-deficient mice.

quinone oxidoreductase

tumorigenesis


Input: Arsenic exposure accelerates atherogenesis in apolipoprotein E (-/-) mice.

apolipoprotein E

atherogenesis

apolipoprotein E

atherogenesis


Input: Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration.

ABCA4 gene

retinal degeneration


Input: The sister still alive showed renal impairment and deep venous thrombosis associated with lupus anticoagulant activity, decrease of circulating autoreactive CD5 (+) B lymphocytes and increased urinary levels of IgG and kappa and lambda light chains, suggesting a possible defect in regulation of B-lymphocyte function.

deep venous thrombosis


Input: Here, we investigated the protective role of FXR against kidney damage induced by obesity in mice that had undergone uninephrectomy, a model resembling the clinical situation of kidney donation by obese individuals.

FXR

kidney damage


Input: PTH hyper-secretion induces bone resorption, whereas intermittent injection of PTH increases bone mass.

PTH

bone mass


Input: We found normal osteoclastogenesis, expression of osteoclast markers, morphology, and localization of proteins involved in bone resorption, such as ClC-7 and cathepsin K. The ability to resorb bone was also normal.

bone resorption


Input: A novel germline mutation, IVS4 + 1G > A, of the POU1F1 gene underlying combined pituitary hormone deficiency.

POU1F1 gene

pituitary hormone deficiency


Input: The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996.

HFE

HH

HFE

HH


Input: In agreement with this, hypoxia and the hypoxia mimetic cobalt chloride induced the expression of G6PT, vascular endothelial growth factor (VEGF), and HIF-1alpha.

VEGF

hypoxia


Input: r-OPN did not affect hematoma formation.

OPN

hematoma


Input: Treatment significantly improved the clonogenic potential of bone marrow erythroid, myeloid, megakaryocytic colony-forming cells and increased the proportion of CD34 (+) cells expressing the adhesion molecules CD11a, CD49d, CD54, CXCR4 and the SLAM antigen CD48.

SLAM

adhesion


Input: Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

RET proto-oncogene

multiple endocrine neoplasia type 2B

RET proto-oncogene

multiple endocrine neoplasia type 2B


Input: These processes are herein confirmed to also occur in a human ovarian carcinoma cell line (OVCAR-3), by means of CD73 or NRK1 specific silencing.

ovarian carcinoma


Input: The data also suggest that the AC3 genetic effects on BMI may have interaction with the factors related to ageing and environment.

ageing


Input: Expression analyses of the four family genes in esophageal and GCs suggested that GSDMC and GSDMD as well as GSDMA are tumor suppressors and that GSDMB, which was amplified and overexpressed in some GCs, could be an oncogene.

GSDMA

esophageal


Input: All nine USS women had severely deficient ADAMTS13 activity.

USS

USS


Input: In order to characterize the molecular defects underlying GALE deficiency, the GALE gene of 7 patients showing severe activity decreases was sequenced.

GALE

GALE deficiency

GALE

GALE deficiency


Input: There is mounting evidence that alpha 3 (IV) NC1 is also a target of autoimmunity in experimental autoimmune glomerulonephritis (EAG).

EAG

autoimmunity


Input: Our results reveal an additional functional mechanism for the pathogenesis of BDA2, which is duplication of a regulatory element that affects the expression of BMP2 in the developing limb.


Input: The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.

IKAP

atopic


Input: To assess the effects of energy balance interventions on tumor progression and EMT, mice were administered DIO, control, or CR diets for 8 weeks before orthotopic transplantation of M-Wnt or E-Wnt cells (for each cell line, n = 20 mice per diet) and continued on their diets for 6 weeks while tumor growth was monitored.

EMT

tumor progression


Input: We report a first case of congenital TTP on the African continent with a new, homozygous mutation in the metalloprotease domain of ADAMTS13.

congenital TTP

congenital TTP


Input: Surprisingly, we find that SIVA loss inhibits non-small cell lung cancer (NSCLC) development, suggesting that SIVA facilitates tumorigenesis.

SIVA

tumorigenesis


Input: KLF15 was found to be up-regulated during myogenic differentiation induced by serum starvation or by overexpression of the myogenic differentiation factor MYOD.

MYOD

starvation


Input: Increased mRNA expression of manganese superoxide dismutase in psoriasis skin lesions and in cultured human keratinocytes exposed to IL-1 beta and TNF-alpha.

IL-1 beta

psoriasis

IL-1 beta

psoriasis


Input: PXS25 inhibits conversion of high glucose-induced release of active TGF-β (1), only in the absence of hypoxia.

TGF-β

hypoxia


Input: So far, three loss-of-function mutations of PAX8 have been described, two in sporadic cases and one in familial thyroid hypoplasia.

sporadic


Input: Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN.

glomulin

vascular anomalies


Input: Loss of methylation at the ZAC1 differentially methylated region (DMR) is associated with transient neonatal diabetes mellitus, a developmental disorder involving growth retardation and diabetes in the first weeks of post-natal life.

DMR

transient neonatal diabetes mellitus


Input: Tissue MPO assay may be a useful laboratory tool to quantify intestinal mucosal inflammation in ponies.

MPO

mucosal inflammation


Input: In addition, PCNA, p53, Bax, and Bcl-X expression in both carcinomas were evaluated in relation to their clinicopathologic features and prognostic values using the Kaplan-Meier method and Cox regression models.

PCNA

regression


Input: Impaired myocardial protein synthesis induced by acute alcohol intoxication is associated with changes in eIF4F.

acute alcohol intoxication

acute alcohol intoxication


Input: In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV.

PHPV

PHPV


Input: 3) PTTG overexpression causes aneuploidy.

PTTG

aneuploidy


Input: A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the X chromosome, 46, Y, inv (X) (p21. 2q22. 2).

congenital hypotonia


Input: In the presence of recombinant tumour necrosis factor-alpha (TNF-alpha), anti-fas antibody, Leu3a anti-CD4 antibody, the percentage of apoptosis, evaluated in a 24-72 h short-term assay, was lower (P < 0. 05) in tat-positive Jurkat cells than in mock-transfected controls.

fas


Input: Results also indicate that ceruloplasmin interacted with chronic elevated manganese exposures to produce greater levels of brain oxidative stress.

ceruloplasmin

brain

ceruloplasmin

brain


Input: We have performed OCTN2 mutation analysis in two unrelated German patients with primary carnitine deficiency and identified three molecular abnormalities.

carnitine deficiency

carnitine deficiency


Input: Overall, miRNA-dependent crosstalk between Ang-2 and VEGF plays a role in hypoxia-induced microvascular response.

VEGF

hypoxia


Input: In contrast to our hypothesis, IL-4-independent pathways exacerbate methacholine-induced AHR and promote airway obstruction during the pathogenesis of mycoplasma respiratory disease.

AHR

airway obstruction


Input: CONCLUSIONS: Utilizing both FISH and cytologic morphology, the assessment of Bcl-2/IgH translocation status could contribute to the better detection of minimal bone marrow infiltration and relapse receiving treatment by DLBCL cells.

translocation


Input: NGAL expression is elevated in both colorectal adenoma-carcinoma sequence and cancer progression and enhances tumorigenesis in xenograft mouse models.

NGAL

tumorigenesis


Input: There were significant increase in ERK2, c-fos and c-jun protein and mRNA levels in thalamus of patients with schizophrenia relative to controls.

c-jun

schizophrenia

c-jun

schizophrenia


Input: A total of 16 TC, 13 AC, 16 large cell neuroendocrine carcinomas and 15 small cell lung cancer were investigated for the mRNA expression of 11 transcription factors and related genes (MYB, MYBBP1A, OCT4, PAX6, PCDHB, RBP1, SDCBP, SOX2, SOX4, SOX11, TEAD2).

small cell lung cancer


Input: The alteration of neuraminidase and PPCA patterns in several of the Western blotting analyses performed on patient protein extracts indicated that the LMC is affected in at least some GM1-gangliosidosis and Morquio B patients.

LMC

gangliosidosis


Input: Digoxin downregulates NDRG1 and VEGF through the inhibition of HIF-1α under hypoxic conditions in human lung adenocarcinoma A549 cells.

VEGF

hypoxic


Input: There are many bone anabolic effectors that control bone mass such as BMPs, PTH, and Wnt inhibitors.

PTH

bone mass


Input: Although many studies correlate S1P function to impaired cell growth, the relevance of C1P/Cer system and its involvement in neuroblastoma cells remain to be clarified.

neuroblastoma


Input: Immunogenicity without immunoselection: a mutant but functional antioxidant enzyme retained in a human metastatic melanoma and targeted by CD8 (+) T cells with a memory phenotype.

metastatic melanoma


Input: Our study suggests that cervical cancer cell lines exploit cell line-dependent, differential epigenetic mechanisms for DKK-1 silencing.

cervical cancer


Input: PATIENTS/SUBJECTS/METHODS: The methylation status of p16 was evaluated in 22 HCC, 17 cirrhosis, 17 chronic hepatitis, nine primary biliary cirrhosis (PBC), eight autoimmune hepatitis, seven drug induced liver disease, six fatty liver, and three normal liver tissues using methylation specific polymerase chain reaction (MSP).

HCC

autoimmune hepatitis


Input: In this paper, we studied the relation between DDX3 and the hypoxic responsive proteins in human breast cancer.

hypoxic


Input: PROP1 mutation causes combined pituitary hormone deficiency (CPHD).

pituitary hormone deficiency


Input: In conclusion, our study showed that polymorphisms of CuZn-SOD, MnSOD, GSTM1 and GSTT1 in the placental tissue were not associated with preeclampsia.

preeclampsia


Input: As the probe (pSPT/PGK), which is used for investigation of X-inactivation patterns, has been shown to be linked to the disease itself, it is possible to assign phase in mothers of sporadic cases who have been shown to be carriers, even when they have no surviving male offspring.

PGK

sporadic


Input: TweakR is highly expressed in all subtypes of invasive ductal breast cancer, and enavatuzumab administration exhibited a dose-dependent inhibition of primary tumor growth and lung metastasis and enhanced the antitumor activity of several chemotherapy agents currently used to treat breast cancer.

TweakR

invasive ductal breast cancer


Input: Upon induction of experimental autoimmune encephalomyelitis, male but not female PPARalpha (-/-) mice developed more severe clinical signs that were restricted to the acute phase of disease.

PPARalpha

experimental autoimmune encephalomyelitis

PPARalpha

experimental autoimmune encephalomyelitis


Input: Further, using reverse regression we showed that the effects were present only in subjects with higher scores on the PAI-BOR.

BOR

regression


Input: Considering TN and NTN BRCA-related and sporadic tumors, a hierarchical clustering identified two clusters of miRNAs, which were not so different from CLU1 and CLU2, both in miRNA content and targeted pathways.

NTN

sporadic


Input: Liver expression of key genes related to de novo FA synthesis (LXRα, SREBP1c, ACC1, FAS), FA uptake and transport (PPARγ, CD36, FABP4), FA oxidation (PPARα), and inflammation (IL6, TNFα, CRP, PPARδ) were assessed by RT-qPCR in 127 MO women with normal liver histology (NL, n = 13), simple steatosis (SS, n = 47) and non-alcoholic steatohepatitis (NASH, n = 67).

inflammation


Input: Since then, considerable literature on CNP and the cardiovascular system has been published; the aim of this review is to examine current literature relating to CNP and cardiovascular disease, in particular its role in heart failure (HF) and myocardial infarction (MI).

CNP

cardiovascular disease


Input: Missense mutations in exon 5 of the LPL gene are the most common reported cause of LPL deficiency.

LPL

LPL deficiency

LPL

LPL deficiency


Input: Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

VHL

von Hippel-Lindau disease

VHL

von Hippel-Lindau disease


Input: When cholestasis was induced in pregnant rats, BVR alpha, SVCT1 and SVCT2 expression in maternal and fetal livers was stimulated, and this was further enhanced by UDCA treatment.

cholestasis

cholestasis


Input: Recruitment of thyroid hormone receptor/retinoblastoma-interacting protein 230 by the aryl hydrocarbon receptor nuclear translocator is required for the transcriptional response to both dioxin and hypoxia.

aryl hydrocarbon receptor nuclear translocator

retinoblastoma


Input: Polymorphisms of the brain-derived neurotrophic factor (BDNF) have been investigated as candidate genes for post-stroke depression (PSD), and its receptor, neurotrophic tyrosine kinase receptor B (TrkB), has been associated with depression.

PSD

stroke


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

major depression

major depression


Input: Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

retinal dystrophy with early macular involvement

retinal dystrophy with early macular involvement


Input: We demonstrate that accumulation of dOTC in dopaminergic neurons causes neurodegeneration and motor behaviour impairment that illustrates a parkinsonian phenotype.

dOTC

neurodegeneration

dOTC

neurodegeneration


Input: Collectively, our results extend the pattern of TMPRSS6 mutations associated with IRIDA and propose a model of causality for some of the novel missense mutation.

IRIDA

IRIDA


Input: Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists.

PAP

hydrometrocolpos


Input: In addition, LTR-SHH skin displays the gene expression abnormalities previously described for human BCCs, including decreased BP180/BPAG2 and laminin 5 adhesion proteins and expression of basal epidermal keratins.

adhesion


Input: We evaluated the contribution of EphB2 to inherited PC susceptibility in African Americans (AA) by screening the gene for germline polymorphisms.

PC

PC


Input: A population-based cohort of 88 DS samples from the UK trials was used to validate survival estimates for IKZF1 and CRLF2 abnormalities.

abnormalities


Input: The present study supports the view that circulating lymphocytes give easy access to PAH gene transcripts whose nucleotide sequence is identical to that reported in liver and therefore represent a useful tool for molecular genetic studies in phenylketonuria.

PAH

phenylketonuria

PAH

phenylketonuria


Input: Prolactin-releasing peptide (PrRP) and its G-protein-coupled receptor, GPR10, have been implicated in the central control of appetite and blood pressure.

blood pressure


Input: Photophobia, impaired movement perception, variable reduced VA that improved with the use of pinholes and ERG abnormalities were typical for the disease.

ERG

abnormalities


Input: CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome.

growth disorders


Input: Seven of 74 amplifiable cases (9%) were positive for the translocation, which involves the bcl-2 oncogene and the immunoglobulin heavy chain gene.

translocation


Input: TRX overexpression partially restored reduced bone mineral density and prevented the suppression of bone formation observed in diabetic WT.

TRX

bone mineral density


Input: These two opposite effects apparently result from distinct mechanisms: either transcriptional activation of genes responsible for cell survival or cell apoptosis, or translocation into the cytoplasm where they target the mitochondria and cause cell apoptosis via Bcl-2 binding.

translocation


Input: The human glioma cell lines, U87 and T98G, were evaluated for their ability to survive and form colonies in an acidic environment of pH (ext) 6. 0.

glioma


Input: A large fraction of this resides in the DCT, namely, (i) the transient receptor potential channel melastatin subtype 6 (TRPM6), a divalent cation-permeable channel located at the luminal membrane of the DCT, facilitates Mg (2 +) entry from the pro-urine into the cell; (ii) the epidermal growth factor is a novel hormone regulating active Mg (2 +) transport through TRPM6; (iii) the voltage-gated K (+) channel, Kv1. 1, establishes a favorable luminal membrane potential for TRPM6-mediated Mg (2 +) transport; (iv) the Na (+)/K (+)-ATPase gamma-subunit (gamma-Na (+)/K (+)-ATPase) was identified as mutated protein in a family with isolated dominant hypomagnesemia.

DCT

hypomagnesemia


Input: In murine gastric muscles, IGF1 promotes Kitl-dependent development of interstitial cells of Cajal (ICC), the non-neoplastic counterpart of GIST, suggesting cooperation between these pathways.

Kitl

non-neoplastic


Input: Although levels of secreted VEGF did not differ significantly between wild-type and mutant EGFR cell lines when grown in vitro under normoxic conditions, following exposure to 0. 1% hypoxia levels of VEGF produced by mutant cells increased 3. 5-6. 6 fold compared to 2 or less for full length EGFR cells.

VEGF

hypoxia


Input: Significant correlations were found for familial covariance regarding the relation between TS subjects and their sisters (r = 0. 42, P < 0. 01) and HI and MOP (r =-0. 39, P < 0. 01) CONCLUSION: we conclude that the familial influences and risk factors such as recurrent otitis media in combination with hearing impairment serve primarily as important predictors of the individual neuromotor phenotype in Turner syndrome.

MOP

recurrent otitis media


Input: We show that Phlpp1-loss causes neoplasia and, on partial Pten-loss, carcinoma in mouse prostate.

carcinoma


Input: A catalytically inactive mutant of DGAT1 (H426A) blocks the localization of NS5A, but not core, to LDs in a dominant-negative manner and impairs the release of infectious viral particles, underscoring the importance of DGAT1-mediated translocation of NS5A to LDs in viral particle production.

translocation


Input: During this investigation we came across a number of ERG-rearranged ES lacking both EWSR1 and FUS abnormalities by FISH.

ERG

abnormalities


Input: Loss of Raf kinase inhibitor protein promotes cell proliferation and migration of human hepatoma cells.

Raf kinase inhibitor protein

hepatoma


Input: As a consequence of anti-oxidative stress, activation of the ACE2/Ang-(1-7)/Mas axis led to improved hepatic insulin resistance through the Akt/PI3K/IRS-1/JNK insulin signaling pathway.

insulin resistance


Input: S100P and S100Z were both up-regulated in cancer; whereas S100A7, S100A8 and S100A9 were strongly up-regulated only in DCIS.

cancer


Input: Clinical and biochemical parameters of GC sensitivity were measured: weight, height, waist to hip ratio, glucose, insulin, total cholesterol, high-density lipoprotein, and C-reactive protein.

C-reactive protein

waist to hip ratio


Input: Subcutaneous and visceral mRNA expressions of tumor necrosis factor-alpha and CD68 were significantly increased in the ESRD versus control group.

ESRD

ESRD


Input: We studied GATA6, a TF gene that is frequently amplified or overexpressed in gastric, esophageal and pancreatic adenocarcinomas.

TF gene

esophageal


Input: Early growth response-1 (EGR1) is a multifunctional transcription factor that regulates diverse biological functions, including inflammation, apoptosis, differentiation, tumorigenesis, and even viral infection.

tumorigenesis


Input: Increased granulocyte-colony stimulating factor (G-CSF) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced pulmonary fibrosis.

granulocyte-macrophage colony stimulating factor

pulmonary fibrosis

granulocyte-macrophage colony stimulating factor

pulmonary fibrosis


Input: When reporters containing VEGF sequences, in the context of the native VEGF or heterologous simian virus 40 promoter, were cotransfected with expression vectors encoding HIF-1alpha and HIF-1beta (ARNT [aryl hydrocarbon receptor nuclear translocator]), reporter gene transcription was much greater in both hypoxic and nonhypoxic cells than in cells transfected with the reporter alone.

VEGF

hypoxic


Input: Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: Kaplan-Meier survival analysis and Cox proportional hazard regression were used to analyze the association between the GATA2 rs2335052 genotypes and the clinical outcome of CRC.

regression


Input: The translocation replaces the last nine codons of AML1 with the last 96 codons of EAP.

translocation


Input: After ischemia, expression was increased primarily in the dentate gyrus and CA3 regions of hippocampus.

ischemia


Input: The sibpair analysis revealed a positive linkage between SLC6A4 * C and the 2 anxiety-related subdimensions of Harm Avoidance: HA1 (Anticipatory Worry) and HA2 (Fear of Uncertainty) (P =. 003).

anxiety


Input: Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.

IKBKG

progressive macrocephaly


Input: However, hypoxia-induced revascularization and development of deep intraretinal vessels at P17 were reduced in TNFR2-KO but increased in TNFR2-TG mice without significant increase in preretinal neovascularization (NV).

neovascularization


Input: Gene-gene interactions of FAS and FASL polymorphisms increased the risk of esophageal squamous-cell carcinoma in a multiplicative manner (OR for the presence of both FAS-1377AA and FASL-844CC genotypes = 4. 55, 95% CI = 2. 75 to 7. 48; P =. 001, test for homogeneity).

FASL

esophageal


Input: HLA-DQA1 and HLA-DQB1 haplotypes were determined in 37 couples with a history of recurrent spontaneous abortion (RSAB), 40 of their abortuses, and 20 fertile control couples.

recurrent spontaneous abortion


Input: We compared MTX-LPD to non-MTX-LPD and sporadic LPD by evaluating 48 cases of MTX-LPD, 28 non-MTX-LPD, and 150 sporadic LPD.

MTX

sporadic


Input: Two structurally similar VDRMs were tested in the 5/6 nephrectomized (NX) rats with elevated PTH, endothelial dysfunction and left ventricular hypertrophy.

PTH

ventricular hypertrophy


Input: We demonstrate that high expression of TLR4 and MyD88 predicts poorer overall survival in patients with EOC; most likely, this is due to their association with serous histology and features of high tumor burden and aggressiveness, including stage, grade, and ascites at surgery.

ascites


Input: For in vitro experiments, we used a panel of human glioma cell lines (U87 MG, T98G, A172, LW5, and U251), a rat gliosarcoma cell line (9 L), and human lung (A549) and prostate carcinoma (P3) cell lines.

glioma


Input: The MPI of pterygium fibrovascular tissue (13. 4) was significantly higher than the MPI of pterygium epithelium (3. 1; P = 0. 0001).

MPI

pterygium


Input: Signaling by the matrix proteoglycan decorin controls inflammation and cancer through PDCD4 and MicroRNA-21.

inflammation


Input: These results indicate that the increased detection and visualization of peptide-HLA complexes in HAM/TSP CD4 + CD25 + T cell subsets that are shown to stimulate and expand HTLV-I Tax-specific CD8 + T cells may play an important role in the pathogenesis of HTLV-I-associated neurological disease.

neurological disease


Input: There was a highly significant decrease in hemoglobin over time in patients who did not receive EPO (P = 0. 008).

EPO

hemoglobin


Input: Gal1 has been shown to promote axonal regeneration through the activation of macrophages.

axonal regeneration


Input: Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible " hot spot " on Ser72.

Dejerine-Sottas neuropathy

Dejerine-Sottas neuropathy


Input: Expression of Smad4 and Smad7 in human thyroid follicular carcinoma cell lines.

thyroid follicular carcinoma


Input: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive weight-adapted standard glucocorticoid replacement therapy.

PAI

weight


Input: Thus, DJ-1 may be a potential therapeutic target for peritoneal carcinomatosis of gastric carcinoma.

gastric carcinoma


Input: The rs738409 C > G patatin-like phospholipase domain-containing 3 (PNPLA3) single nucleotide polymorphism (SNP), encoding for the I148M protein variant, influences liver fat without affecting insulin resistance and body composition.

insulin resistance


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

depression

depression


Input: Specifically, in HS and K, diffuse PAR-1 and PAR-2 positivity was found in dermal cellular areas composed of myofibroblasts, while no or minor staining was observed in the scattered fibroblasts embedded in abundant extracellular matrix in the context of the more collagenous nodules, irrespective of the type of scar.

scar


Input: In kidneys of mice with bovine serum albumin overload proteinuria, fractalkine mRNA levels were 2. 3-fold greater than those of controls.

fractalkine

proteinuria


Input: Yet, silencing of endogenous TRPM8 mRNA by either antisense or siRNA strategies suppresses both I (cold/menthol) and TRPM8 protein in LNCaP cells.

cold


Input: Approximately half of the mevalonic aciduria cDNA clones encoding mevalonate kinase contained a single base substitution (A to C) in the coding region at nucleotide 902 that changed an asparagine residue to a threonine residue.

mevalonate kinase

mevalonic aciduria

mevalonate kinase

mevalonic aciduria


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

starvation


Input: A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men.

alpha 4

nicotine addiction


Input: Recent studies have suggested that PAR-2 activity correlates with inflammatory processes and cell proliferation and that PAR-2 activation in non-neoplastic cells induces expression of cyclooxygenase-2 (COX-2).

PAR

non-neoplastic


Input: Taken together, significant numbers of gastric, esophageal, and pancreatic carcinomas are CD97 +, whereas its homolog, EMR2, does not have any role in such tumors.

esophageal


Input: The insulin sensitivity indexes: homeostasis model assessment of insulin resistance, whole body insulin sensitivity index, hepatic insulin sensitivity and early secretory response to an oral glucose load (HOMA-IR, ISI-COMP, ISI-HOMA and DELTA) were calculated.

COMP

insulin resistance


Input: Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

MTTP

abetalipoproteinemia

MTTP

abetalipoproteinemia


Input: We examined the genetic association of neuropeptide Y receptor Y5 (NPY5R) single nucleotide polymorphisms (SNPs) with measures of the insulin resistance (metabolic) syndrome.

insulin resistance


Input: A mutation in the androgen receptor (AR) gene, namely AR R726L, was described in 2% of Finnish men with sporadic or familial prostate cancer and was associated with an approximately sixfold increased risk of prostate cancer.

androgen receptor

sporadic


Input: We hypothesized that CHD7 would be involved in the pathogenesis of IHH and KS (IHH/KS) without the CHARGE phenotype and that IHH/KS represents a milder allelic variant of CHARGE syndrome.

KS

KS


Input: This resulted from a high glucose-induced decrease in transactivation by the transcription factor hypoxia-inducible factor-1alpha (HIF-1alpha), which mediates hypoxia-stimulated VEGF expression.

VEGF

hypoxia


Input: This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.

NAG

MPS-IIIB

NAG

MPS-IIIB


Input: Gene Ontology analysis indicated a significant alteration of oxygen transport (increased hemoglobin gene expression) and lipid metabolism [including monoglyceride lipase and low density lipoprotein receptor-related protein 5 (LRP5) gene].

hemoglobin


Input: Consistent with a role for HIFs in liver fibrosis in cholestatic liver disease, nuclear HIF-1 & #945; protein was present in macrophages, hepatocytes, and fibroblasts in the livers from patients with primary biliary cirrhosis and primary sclerosing cholangitis.

sclerosing cholangitis

sclerosing cholangitis


Input: Expression assays performed with patient' s fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression.

SPOAN

SPOAN


Input: Despite this marked difference in gene regulations, Pin1 siRNA and Juglone exert a strong inhibitory effect on both the LNCaP and the DU145 cell line, suppressing in vitro cell proliferation as well as tumor enlargement when transplanted into mice.

enlargement


Input: SET7/9 bound and mono-methylated H3K4 at the region of the approximately 4-6 kb upstream from the SREK1IP1 transcriptional start site and the promoters of PGC and CDC28B.

mono


Input: The expressions of stromal-cell-derived factor 1 (SDF-1), chemokine motif CXC receptor 4 (CXCR-4), vascular endothelial growth factor (VEGF), and intercellular adhesion molecule 1 (ICAM-1) in peri-infarction region and nonischemic region at different time points were determined by the Western blot analysis.

VEGF

infarction


Input: There was increased expression of adhesion receptors (CD11c, CD29, CD36, CD44, CD49e, CD54), receptors involved in signal transduction and/or inflammation (CD13, CD45, CD53), and other markers (CD9, CD52, CD71, CD98, HLA Class I) on macrophages from ILD patients compared to the non-ILD group.

inflammation


Input: We describe a 3-year-old girl with early-onset Brown-Vialetto-Van Laere syndrome and a novel mutation in the C20orf54 gene (c. 989G & gt; T).

Brown-Vialetto-Van Laere syndrome

Brown-Vialetto-Van Laere syndrome


Input: We hypothesize that the t (17; 22) (q22; q13) translocation that results in dermal overexpression of PDGFB and favors the development of fibrotic tumors might arise because of the known DNA repair defect in patients with ADA-SCID.

PDGFB

translocation


Input: The underlying gene in most IMO patients is TCIRG1.

IMO

IMO


Input: Congenital disorder of Glycosylation type Ia is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773. 1, gene ID 5373).

Congenital disorder of Glycosylation type Ia

Congenital disorder of Glycosylation type Ia


Input: The variable effects observed with the different L1CAM mutants suggest that this function contributes to the marked heterogeneity of symptoms and severity observed in the patients affected by the L1 syndrome.

L1 syndrome

L1 syndrome


Input: Patients with a PROP1 inactivating mutation present combined pituitary hormone deficiency (CPHD) and pituitary maldevelopment.

pituitary hormone deficiency


Input: Expression of MUC1, MUC2, and MUC3 core tandem repeat proteins was examined in specimens of normal mucosa (n = 20), hyperplastic polyps (n = 10), adenomatous polyps (n = 89), and invasive cancer (n = 19).

invasive cancer


Input: Together, our results demonstrate that there is a masked t (8; 21) translocation in AML that is not detectable by cytogenetic analysis but is able to transcribe an AML1/ETO fusion transcript similar to that transcribed in t (8; 21)-positive AML-M2 patients.

translocation


Input: Decrease of the LPL enzymatic activity leads to elevated triglycerides (TG) and reduced high-density lipoprotein (HDL-C levels), both risk factors for cardiovascular disease (CVD).

LPL

cardiovascular disease


Input: Although, the NRIF3/DD1/DIF-1 pathway does not mediate apoptosis of a wide variety of non-breast cancer cell lines, because of certain similarities and gene signatures between breast and prostate cancer we explored whether the NRIF3/DD1/DIF-1/FASTKD2 pathway mediates apoptosis of prostate cancer cells.

prostate cancer


Input: Since advanced prostate tumors display chemoresistance, we tested a hypothesis that CT increases apoptosis resistance of prostate cells against cytotoxic drugs.

CT

prostate tumors

CT

prostate tumors


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

cyclophilin A

SCC

cyclophilin A

SCC


Input: A direct isothermal amplification method was developed for detection of the latent membrane protein 1 (LMP1) of EBV in the peripheral blood of 80 patients with leukemia (54 had lymphoid leukemia and 26 had myeloid leukemia) and of 20 hematologically healthy control subjects.

myeloid leukemia


Input: In chronic atopic dermatitis, lichen planus, mycosis fungoides, and pityriasis rubra pilaris, Cdsn immunoreactivity was confined to stratum corneum and upper stratum granulosum with no stratum spinosum immunoreactivity.

Cdsn

atopic dermatitis


Input: A lower expression of HIP in tumors results in decreased cell adhesion, favoring metastasis.

HIP

metastasis


Input: In one patient of group 2 a hidden translocation t (7; 14) (q3? 1; q2? 2) could be revealed with SKY.

SKY

translocation


Input: The microarray analysis demonstrated that NMS induces a robust change in the expression of subsets of genes (CCL2, NOS3, THP1, NTRK1, CCR2, BDRKRB1, IL-10, TNFRSF1B, TRPV4, CNR1 and OPRL1) involved in pain transmission and inflammation.

inflammation


Input: Concordant with these contradictory effects on tumor progression, FoxA1 expression is slightly upregulated in localized prostate cancer wherein cell proliferation is the main feature, but is remarkably downregulated when the disease progresses to metastatic stage for which cell motility and EMT are essential.

EMT

tumor progression


Input: Our results suggest that TNF-alpha gene G-308A polymorphism is a risk factor for the development of membranous glomerulonephritis.

alpha gene

membranous glomerulonephritis


Input: The GSTP1-313 G polymorphism, and null alleles of GSTM1 and GSTT1, are strong predisposing risk factors for sporadic prostate cancer in North India.

sporadic


Input: In conclusion, PTK2 and EIF3S3, which, respectively, encode focal adhesion kinase and the p40 subunit of the eukaryotic initiation factor 3, were probable targets within the amplification at 8q23-q24 and may be involved in progression of HCC.

HCC

HCC


Input: Methylation-specific PCR for 8 human cervical cancer cell lines and bisulfite sequencing for 4 cell lines exhibiting significant difference in methylation levels were used to determine CpG-island methylation status at the 5'-end region of DKK-1.

cervical cancer


Input: Multivariate regression analysis showed that the ACE genotype did not change the odds of having microalbuminuria versus normoalbuminuria, while the D allele independently increased the odds of having macroalbuminuria versus microalbuminuria approximately threefold (p < 0. 01).

ACE

microalbuminuria


Input: FISH analysis of metaphase chromosomes from inv (16) patients has established the gene order as telomere-MYH11-MRP-ARA-centromere and demonstrated that both ARA and MRP are deleted in a subgroup of the inv (16) leukemias.

FISH

leukemias


Input: We also observed interaction between body mass index and IGF1 19 CA repeat (p = 0. 06) and between weight gain and the-202 C > A IGFBP3 polymorphism (p = 0. 05) in NHW post-menopausal women not recently exposed to hormones.

body mass index


Input: Results showed increased expression of the nuclear short isoform of CRMP2B and decreased expression of full-length CRMP2B and ARPC5 in cortical neurons of rats with hypothyroidism.

hypothyroidism


Input: Cell lines and primary tumors were tested for expression of VEGF-A, under normoxic and hypoxic conditions, using quantitative PCR, ELISA, WST-1 viability, and in-cell Western experiments.

VEGF-A

hypoxic


Input: RESULTS: Under hypoxic conditions, the mRNA and protein levels of VEGF, and the mRNA level of VEGF receptor-1 (VEGFR-1) increased with an increase in hypoxia-inducible factor-1alpha (HIF-1alpha) protein, and considerable amounts of VEGF were secreted.

VEGF

hypoxic


Input: Five single nucleotide polymorphisms (SNPs), located in two adjacent estimated linkage disequilibrium blocks in the first intron of & #946;-1, 3-glucuronyltransferase 2 (B3GAT2), were nominally associated with SCZ (. 004 & #8804; P (empirical) & #8804;. 05).

SCZ

SCZ


Input: There was significant association of HR and DBP with SNPs of the gene encoding beta2AR; Gly16 or Glu27 could aggravate orthostatic tachycardia by excessive venous pooling.

DBP

orthostatic tachycardia


Input: The UGT2B17 deletion polymorphism does not play a major role in prostate cancer susceptibility as previously indicated.

prostate cancer susceptibility


Input: The proportion of ATP7B positive samples in gastric cardiac carcinomas (51. 0%, 25 of 49) was significantly higher than that in the corresponding adjacent non-neoplastic epithelium (22. 4%, 11 of 49) (P = 0. 003).

non-neoplastic


Input: Haplotype analyses were performed using microsatellite markers flanking the PDS locus, and the PDS gene was submitted to direct sequence analysis.

PDS

PDS

PDS

PDS


Input: Given that high mobility group box 1 (HMGB1), a nuclear protein, once released to the extracellular space, promotes nociception, we asked if inactivation of HMGB1 prevents or reverses chemotherapy-induced painful neuropathy in rats and also examined possible involvement of Toll-like receptor 4 (TLR4) and the receptor for advanced glycation endproduct (RAGE), known as targets for HMGB1.

RAGE

neuropathy


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).

CPAP

telangiectasia


Input: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann' s corneal dystrophy.

Meesmann' s corneal dystrophy

Meesmann' s corneal dystrophy


Input: No correlation was found between IL-18 and age, BMI, waist-to-hip ratio (WHR), lipid profile, dehydroepiandrosterone-sulfate (DHEAS), sex hormone-binding globulin (SHBG), or fasting insulin levels.

waist-to-hip ratio


Input: Relative to controls, MDD is associated with a 1. 34-fold increase in BiP (P = 0. 004), 1. 35-fold increase in EDEM1 (P = 0. 001), 1. 68-fold increase in CHOP (P = 0. 002), and 1. 60-fold increase in XBP1 (P = 0. 004).

MDD

MDD


Input: The positional and functional candidate genes SIX1, SIX4, SIX6, OTX2, and ARHJ were excluded as the cause of cataract in these families.

cataract


Input: This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.

MHBD deficiency

MHBD deficiency


Input: We studied microsatellite instability (MI) and bax gene abnormalities in colorectal carcinomas from 36 patients diagnosed as having hereditary nonpolyposis colorectal cancers (HNPCC) according to the clinical criteria (12 with confirmed HNPCC in group A and 24 at high risk of HNPCC in group B) and from 20 randomly selected patients with other colorectal cancers.

bax gene

abnormalities


Input: Anti-oxidant glutathione (GSH) and N-acetyl-L-cysteine (NAC) can abrogate PL-induced gastric cancer cell death and proliferation inhibition.

NAC

gastric cancer


Input: Analyzing further the molecular mechanism of this phenomenon, we report for the first time that phosphorylated αB-crystallin preferentially interacts with Bcl-2, an anti-apoptotic protein, and this interaction prevents the translocation of Bcl-2 to mitochondria.

translocation


Input: These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations.

CFTD

CFTD


Input: Among MMR genes, germline MSH6 mutations are often observed in HNPCC-like families with an increased frequency of endometrial cancer.

endometrial cancer

endometrial cancer


Input: Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

Dejerine-Sottas neuropathy

Dejerine-Sottas neuropathy


Input: Group G had significantly higher body weight, adipose mass, fasting glucose (FG), serum RBP4, total cholesterol (TC), triglycerides (TG), and high-density lipoprotein cholesterol (HDL-C) than group C. In group M, pioglitazone decreased body weight, adipose mass, levels of serum RBP4, FG, TC, and TG, and it increased levels of HDL-C. Pioglitazone downregulated RBP4 expression in hepatic and adipose tissue and prevented decreases in PPAR-γmRNA levels induced by lithogenic diet.

body weight


Input: PDCD2 functions in cancer cell proliferation and predicts relapsed leukemia.

leukemia


Input: In vivo, doxycycline-inducible suppression of SFRP3 reduced aRMS tumor growth and weight by more than three-fold, in addition to increasing myogenic differentiation and β-catenin signaling.

weight


Input: In this study, we apply a protective heat shock to the transgenic C. elegans and demonstrate: (1) a delay in paralysis, (2) increased expression of small heat shock protein HSP16. 2, and (3) significant reduction of Abeta oligomers in a heat shock time-dependent manner.

Abeta

paralysis

Abeta

paralysis


Input: GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gastric polyps.

GEP

gastric polyps


Input: Our goal is to determine whether or not mutations in the sodium-glucose cotransporter gene (SGLT1) are responsible for GGM.

GGM

GGM


Input: Senescence and epithelial-mesenchymal transition (EMT) have opposing roles in tumor progression, in that, one is a barrier against tumorigenesis, whereas the other is required for invasive malignancies.

EMT

tumor progression


Input: It is speculated that hypoxia-driven disruption of the angiogenic balance involving vascular endothelial growth factor (VEGF)/placenta-derived growth factor (PLGF) and soluble Fms-like tyrosine kinase-1 (sFLT-1, the soluble form of VEGF receptor 1) might contribute to some of the maternal symptoms of pre-eclampsia.

VEGF

hypoxia


Input: To define the mechanism by which the inhibition of NHE1 decreases hypoxic pulmonary hypertension and vascular remodeling, we investigated the role of E2F1, a nuclear transcription factor, in silencing the NHE1 gene-induced inhibition of the proliferation, hypertrophy, and migration of human PASMCs.

pulmonary hypertension


Input: We have investigated microsatellite instability (MSI) in colorectal, gastric, endometrial and ovarian cancer as a result of mismatch repair (MMR) deficiency.

MMR

microsatellite instability


Input: The KCTD12 gene has been associated with bipolar disorder, major depressive disorder and schizophrenia.

bipolar disorder

bipolar disorder


Input: The totality of the evidence currently implicates GPx1, GPx4, SEPS1, Sep15, SEPP1 and TXNRD1 in conditions such as cardiovascular disease, pre-eclampsia and cancer.

pre-eclampsia


Input: Furthermore, the multifactor dimensionality reduction and classification and regression tree analyses identified MGMT F84L as the predominant risk factor for glioma and revealed strong interactions among ionizing radiation exposure, PARP1 A762V, MGMT F84L, and APEX1 E148D.

regression


Input: The current study suggests that Birc5 and Hspa5 could be important survival factors for hepatoma carcinoma cells and that the simultaneous knockdown of Birc5 and Hspa5 is more effective in inducing apoptosis in HepG2 cells than the knockdown of Birc5 or Hspa5 alone.

carcinoma


Input: Neurofibromatosis type 2 (NF2; MIM #101000) is an autosomal dominant disorder characterized by the development of vestibular schwannomas (VSs); schwannomas of other cranial, spinal, and cutaneous nerves; cranial and spinal meningiomas or other central nervous system tumors (eg, ependymomas and astrocytomas) or both.

MIM

schwannomas


Input: In this review we describe potential mechanisms of the involvement of LEM proteins, particularly of LAP2α and Ankle1 in tumorigenesis and we provide evidence that LAP2α expression may be a valuable diagnostic and prognostic marker for tumor analyses.

tumorigenesis


Input: GRP78 is a stress-inducible chaperone protein with antiapoptotic properties that is overexpressed in transformed cells and cells under glucose starvation, acidosis, and hypoxic conditions that persist in poorly vascularized tumors.

starvation


Input: Production of cytokines (IL-1α, IL-1β, IL-4, IL-5, IL-6, IL-10, IL-17, TNFα, INFγ, and VEGF) was studied after in vitro stimulation of isolated peripheral blood by mitogens (Pokeweed mitogen, Concanavalin A), dental plaque bacteria (Aggregatibacter actinomycetemcomitans, Tannerella forsythia, Porphyromonas gingivalis, and Prevotella intermedia), and Heat Shock Protein (HSP) 70 by the Luminex multiplex cytokine analysis system.

dental plaque


Input: Is mda-7/IL-24 a potential target and biomarker for enhancing drug sensitivity in human glioma U87 cell line?

glioma


Input: Normal tissue sections show that dysferlin localizes to the sarcolemma while tissue sections from MM and LGMD patients show minimal staining which is indistinguishable between the two types.

dysferlin

MM

dysferlin

MM


Input: In in vitro experiments, hypoxia induced the upregulation of VEGF-A expression and the cytoplasmic translocation of HuR protein in meningioma cells, and inhibition of the cytoplasmic translocation of HuR reduced the upregulation of VEGF-A expression in meningioma cells.

VEGF-A

hypoxia


Input: Clinical features of the MEN 2A syndrome include medullary thyroid carcinoma (MTC) and/or C-cell hyperplasia (CCH) in almost all affected individuals, pheochromocytoma (approximately 50%) and hyperparathyroidism (HPT) (15-30%).

HPT

pheochromocytoma


Input: To determine whether aberrant SNCG expression and demethylation play a role in gastric carcinogenesis, we examined the expression and methylation status of SNCG in primary gastric cancers, gastric cancer cell lines, and non-neoplastic gastric mucosal tissues.

SNCG

non-neoplastic


Input: X-linked agammaglobulinemia (XLA) is a rare disorder in which recurrent infections occur due to low serum globulins and circulating B lymphocytes caused by a mutation in the Bruton tyrosine kinase (Btk) gene.

Bruton tyrosine kinase

recurrent infections


Input: METHODS: To explore the role of SnoN and Ski in the development and progression of colorectal cancer we examined their protein expression profile by immunohistochemistry in a series of human colorectal adenomas, carcinomas and lymph node metastases.

SnoN

lymph node metastases


Input: We developed a selective small-molecule inhibitor of MPS1, MPS1-IN-3, which caused mitotic aberrancies in glioblastoma cells and, in combination with vincristine, induced mitotic checkpoint override, increased aneuploidy, and augmented cell death.

aneuploidy


Input: The aim of the study is to analyse the ACE gene I/D polymorphisms in healthy young subjects and to evaluate its relationship to left ventricular mass and functions.

ACE gene

left ventricular mass


Input: SFN treatment decreased oxidants, and induced Nrf2 expression, antioxidants, and myofibroblastic dedifferentiation in IPF fibroblasts.

dedifferentiation


Input: In newly diagnosed APL patients, Gli2 expression was significantly positively correlated with Gli1 (R = 0. 57, p & lt; 0. 001) and Smo (R = 0. 56, p & lt; 0. 001) and the expression of Hh pathway components was significantly higher in the high WBC group (p & lt; 0. 05).

APL

APL


Input: Consistent with the role of ERLIN2 in regulating cytosolic lipid content, down-regulation of ERLIN2 in breast cancer or hepatoma cells led to lower cell proliferation rates.

hepatoma


Input: Genes showing increased expression in carcinomas by cDNA microarray analysis (and further validated by immunohistochemistry and western blot analysis) include cyclin D1, PDGF-A chain, retinol binding protein 1, prohibitin and the transcription factor STAT5A.

prohibitin

carcinomas

prohibitin

carcinomas


Input: In mice mimicking human allergic bronchopulmonary aspergillosis, SP-A and SP-D suppressed IgE levels, eosinophilia, pulmonary cellular infiltration and cause a marked shift from a pathogenic Th2 to a protective Th1 cytokine profile.

eosinophilia, pulmonary


Input: The median age of the 109 participants was 31 years, the median CD4 count was 125/mm3, 66. 3% had an abnormal Pap smear, the HR-HPV prevalence was 78. 9% (Digene), the median HPV viral load was 181. 1 RLU (HC2 positive samples only) and 78. 4% had multiple genotypes.

viral load


Input: We further show that cells in the ganglion and inner-nuclear layers of the retina constitutively express IRF-1 and IRF-8 and enhanced CFH expression in the retina during ocular inflammation correlated with significant increase in the expression of IRF-1, IRF-8 and IL-27 (IL-27p28 and Ebi3).

ganglion


Input: Collectively, our results suggest that loss of neurofibromin is not sufficient for astrocytoma formation in mice and that other genetic or environmental factors might influence NF1-associated glioma tumorigenesis.

neurofibromin

tumorigenesis


Input: DNA mismatch repair (MMR) is essential in the surveillance of accurate transmission of genetic information, and defects in this pathway lead to microsatellite instability and hereditary nonpolyposis colorectal cancer (HNPCC).

MMR

microsatellite instability


Input: Although mutations in the rhodopsin, peripherin, and cGMP phosphodiesterase genes have been identified in some forms of RP, it remains to be determined whether these mutations lead to photoreceptor cell death through necrotic or apoptotic mechanisms.

peripherin

necrotic


Input: It is unclear how CQ excites and modulates TRPA1 (+), TRPV1 (+), and TRPM8 (+) neurons and thus affects the sensations of pain, itch, and cold.

cold


Input: Cholelithiasis and choledocholithiasis after sequential cytarabine and asparaginase.

asparaginase

Cholelithiasis

asparaginase

Cholelithiasis


Input: EGFR mutations frequently occur in east-Asian, female, non-smoking, adenocarcinoma patients, however they are occasionally detected in patients with non-adenocarcinomas or with a heavy smoking history.

EGFR

smoking


Input: The ORs of RUNX3 methylation were 16. 6 (95% CI = 6. 5-42. 4) for tumor tissues relative to tumor-adjacent tissues in patients with HCC, 67. 3 (95% CI = 13. 0-348. 5) for tumor tissues from patients with HCC relative to liver tissues from patients with non-neoplastic liver diseases, and 3. 26 (95% CI = 1. 54-6. 90) for tissues from patients with hepatitis C virus (HCV)-related HCC relative to liver tissues from patients with HCC unrelated to HCV.

HCC

non-neoplastic


Input: A nonstatistically significant fall in FGF21 levels was seen after a 72-hour fast.

fall


Input: Moreover, we verified the immunocontent of astrocyte glutamate/aspartate transporter (GLAST) and glutamate transporter-1 (GLT-1) as well as activation of mitogen-activated protein kinases (MAPKs) in hypothyroid rats.

GLAST

hypothyroid


Input: Seven-day-old rats that were underwent left carotid ligation followed by 2h of hypoxic stress (8% O (2) at 37 degrees C) were received VEGF adenoviral vectors or buffer (PBS) injection 3 days after HI.

VEGF

hypoxic


Input: While pregnancy related complications always induce upregulation of Hsp70 and downregulation of Hsp90 in maternal whole peripheral blood, the increase of Hsp60 mRNA levels occurs entirely in patients with preeclampsia and/or fetal growth restriction.

preeclampsia


Input: MBL insufficiency and MASP-2 deficiency are risk factors for recurrence of infections independently of allergic disease.

MASP

infections


Input: To determine the role of p27 in tumorigenesis, we examined its mutational status in 74 non-Hodgkin' s lymphomas (NHLs) (52 of B-cell phenotype, 22 of T-cell phenotype), 5 lymphoma cell lines, and 42 adult T-cell leukemias/lymphomas (ATLs) using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and Southern blot analyses.

tumorigenesis


Input: EGFR mutations were detected in 70 cases of newly diagnosed non-smoking adenocarcinoma, and patients harboring EGFR mutations received EGFR-TKI treatment.

EGFR

smoking


Input: Screening of the 17p11. 2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).

hereditary neuropathy with liability to pressure palsies


Input: The incidences of microsatellite instability (MSI) and underlying DNA mismatch repair (MMR) defects in pancreatic carcinogenesis have not been well established.

MMR

microsatellite instability


Input: Expression of RAGE and HMGB1 in thymic epithelial tumors, thymic hyperplasia and regular thymic morphology.

hyperplasia


Input: In this study, we showed the differential TRAIL responsiveness of human prostate adenocarcinoma PC3 and human colon carcinoma KM12 cells and their respective highly metastatic PC3-MM2 and KM12L4A sublines and investigated the mechanism underlying high susceptibility of human metastatic cancer cells to TRAIL.

prostate adenocarcinoma


Input: Seven single-nucleotide polymorphisms (SNP) of DICER1 (rs13078, rs1057035 and rs12323635) and DROSHA (rs10719, rs2291109, rs17409893 and rs642321) were determined by TaqMan probes and SNPstream in 667 eligible infertile men and 419 fertile controls.

DROSHA

infertile


Input: Carriage of FLG mutations was not associated with the risk of cervical cancer.

FLG

cervical cancer


Input: To clarify aspects of immune mechanisms and proliferation of PNH cells, we investigated HLA-DRB1,-DQA1, and-DQB1 alleles by polymerase chain reaction (PCR)-based genotyping and expression of the Wilms' tumor gene, WT1, by real-time reverse transcriptase-PCR (RT-PCR) in 21 PNH and 21 aplastic anemia (AA) patients.

anemia


Input: Taken together, these observations suggest that CNP and its specific receptor, NPR-B, can play a very important role in regulating cardiac hypertrophy and remodeling, indicating NPR-B as a new potential drug target for the treatment of cardiovascular disease.

CNP

cardiovascular disease


Input: Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation.

Jeune syndrome

Jeune syndrome


Input: The translocation fuses the DNA binding domain of AML1 to nearly all of the ETO co-repressor.

translocation


Input: Mutational analysis of GPC5 and GPC6 in 19 patients with somatic overgrowth failed to reveal pathologic mutations in either of these genes, but identified several coding region polymorphisms.

overgrowth


Input: In vivo I/R (20-minute ischemia, 1-week reperfusion) resulted in more severe systolic and diastolic dysfunction in TIMP4 (-/-) mice with enhanced inflammation, oxidative stress (1 day post-I/R), hypertrophy, and interstitial fibrosis (1 week).

hypertrophy


Input: Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.

Wilson Disease

Wilson Disease


Input: Regulation of bcl-2 gene expression was investigated in neoplastic lymphoid cell lines containing normal #18 chromosomes or a t (14; 18) translocation with regard to steady-state mRNA levels, RNA stability, transcription rates, and DNA methylation.

bcl-2 gene

translocation


Input: Additive genetic, common and unique environmental (ACE) model-based heritability of body mass index (BMI) was 61%, while additive genetic and unique environmental (AE)-model-based heritability of waist circumference (WC) and waist-hip ratio (WHR) were 75% and 61%, respectively.

ACE

waist circumference


Input: It seems, however, that mutations of the inactivation gate (ID3-4 loop) of the sodium channel tend to produce paramyotonia or pure, sometimes severe, myotonia and respond most favourably to the same medications (tocainide and mexiletine).

myotonia


Input: For estrogen-dependent MCF-7/BUS breast cancer cells, overexpression of GRP78 inhibits estrogen starvation-induced BAX activation, mitochondrial permeability transition, and consequent apoptosis.

starvation


Input: Also, expression of IFN-γ of non-necrotizing granulomas was significantly higher than that of necrotizing granulomas in the hyperplasia group, and expression of TGF-β in necrotizing granulomas was significantly higher than that of non-necrotizing granulomas in the necrosis group.

TGF-β

necrosis


Input: Also a marked down-regulation of one gene CSF2 associated with inflammation and two genes (CYP7A1 and CYP2E1) associated with oxidative metabolic stress were observed in the usnic acid-treated cells compared with the control.

inflammation


Input: SAG was expressed at a low level in brain tissue and was inducible after middle cerebral artery occlusion with peak expression at 6 to 12 hours.

SAG

middle cerebral artery occlusion


Input: Effect of COMT Val158Met polymorphism on personality traits and educational attainment in a longitudinal population representative study.

COMT

personality traits


Input: Amelioration of dextran sulfate sodium-induced colitis by anti-macrophage migration inhibitory factor antibody in mice.

macrophage migration inhibitory factor

colitis

macrophage migration inhibitory factor

colitis


Input: Heterozygous PU. 1 mutations were reported in some patients with acute myeloid leukemia (AML), but not in AML with translocation t (8; 21), which gives rise to the fusion gene AML1-ETO.

translocation


Input: We found polyp-specific dysplastic changes in the form of coexpression of Sox2 and Olig2.

polyp


Input: We have screened 17 probands with the HME phenotype, for alterations in all translated exons and flanking intronic sequences, in the EXT1 and EXT2 genes, by conformation-sensitive gel electrophoresis.

HME

HME


Input: Unlike a report of a Japanese patient with aceruloplasminemia, who had midperipheral retinal pigment epithelium (RPE) cell atrophy and yellowish discoloration of the fundus, our Caucasian patient had a maculopathy.

RPE

aceruloplasminemia


Input: We studied the associations between 18 single nucleotide polymorphisms (SNPs) in CHRNA5-CHRNA3-CHRNB4 and systolic blood pressure (SBP), diastolic blood pressure (DBP), and body mass index (BMI) in 5402 young adults from the Northern Finland Birth Cohort 1966.

diastolic blood pressure


Input: The activation of mucosal TLR4 is also influenced by the properties of the infecting strain, and pathogens use their virulence factors to trigger' pathogen-specific' TLR4 responses in the urinary tract but do not respond to the asymptomatic carrier strains in patients with asymptomatic bacteriuria (ABU).

asymptomatic


Input: We postulate that the Rac2-MRC-cIII pathway triggers ROS-mediated genomic instability in LSCs and primitive LPCs, which could be targeted to prevent the relapse and malignant progression of CML.

MRC

genomic instability


Input: Our results indicate that the SF188/V + glioma model exhibits some MRI and histopathology features that closely resemble human glioblastoma.

MRI

glioblastoma


Input: Our study demonstrated the functions of microRNA-7 (miR-7) in cervical cancer.

cervical cancer


Input: In atopic patients, the levels of both IL-8 and MIP-1 alpha mRNAs but not of RANTES mRNA decreased with improvements in symptom scores after therapy.

atopic


Input: Confocal microscopy analysis revealed that menin regulates AKT1 in part by reducing the translocation of AKT1 from the cytoplasm to the plasma membrane during growth factor stimulation.

translocation


Input: Recent genetic studies link this phenotype to expression of abnormal genes at future joint sites: too little expression of NOG, a growth antagonist, or overexpression of GDF5, a growth agonist, results in cartilage overgrowth and bony fusion.

NOG

overgrowth


Input: Accordingly, NSC-13502 inhibited hypoxic induction of luciferase in U251-HRE cells and VEGF mRNA expression in U251 cells.

VEGF

hypoxic


Input: Extracellular RNA (eRNA) released from injured cells promotes tissue permeability, thrombosis, and inflammation in vitro and in vivo, and RNase1 pretreatment can reduce all these effects.

inflammation


Input: It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects.

Nfic

lung hypoplasia


Input: If we could transfer a large number of ODNs into the cancer cell nucleus, activated HIF-1 might bind to the ODNs, resulting in inhibition of hypoxia-induced VEGF synthesis.

VEGF

hypoxia


Input: Three different nucleotide changes were identified in the coding region of CHST6 in sixteen Icelandic patients with MCD type I.

MCD

MCD


Input: We conclude that BRCA1 ovarian tumors present a different type, number, and length of RCNA; a huge amount of the genome is lost, resulting in important genomic instability.

genomic instability


Input: A total of 183 women and 153 men (mean body mass index (BMI), 26. 1 +/-4. 8 kg/m (2)) were genotyped using the PCR-RFLP procedure for the LEP A19G, LEPR Gln223Arg, LEPR PRO1019pro and NPY Leu7Pro polymorphisms.

NPY

body mass index


Input: Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Dysferlin

Miyoshi myopathy

Dysferlin

Miyoshi myopathy


Input: It also reduces the LPS-induced infiltration of neutrophils in lung tissues, pulmonary edema and expression of MLCK and CD11b protein and MLCK mRNA in lung tissues, demonstrating that inhibition of activation of MLCK, leading to an abatement of phosphorylation of myosin light chain or MLCK, resulting in stabilization of vascular barrier function.

pulmonary edema


Input: These studies suggest the 3q translocation in UCSD/AML1 cells is associated with evi-1 transcription and expression of a potential transforming gene.

translocation


Input: This study demonstrates that human UPF1 exerts protective effects in a rat paralysis model based on the amyotrophic lateral sclerosis (ALS)-associated protein, TDP-43 (transactive response DNA-binding protein 43 kDa).

DNA-binding protein

amyotrophic lateral sclerosis


Input: This study investigated possible associations between the TNFα-308G/A, IFN + 874A/T, IL-6-174C/G, IL-10-1082A/G, and TGFβ-509C/T polymorphisms with HIV-1 infection, in addition to correlation of the polymorphisms with clinical markers of AIDS progression, such as levels of CD4 +/CD8 + T lymphocytes and plasma viral load.

TGFβ

viral load


Input: In a family with clinical evidence of hereditary chronic pancreatitis, a missense mutation of codon 22 (GAC--> GGC) of the cationic trypsinogen was found.

GGC

chronic pancreatitis


Input: Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0. 1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0. 018) and de novo mutations (P = 0. 04).

MAF

schizophrenia


Input: The index case presented with severe PPH and was found to have the abnormal hemoglobin.

PPH

abnormal hemoglobin


Input: Taken together, these novel findings suggest that APCDD1 positively regulates adipogenic differentiation and that its down-regulation by miR-130 during DIO may contribute to impaired adipogenic differentiation and obesity-related metabolic disease.

obesity

obesity


Input: The role of Iex-1 in the pathogenesis of venous neointimal hyperplasia associated with hemodialysis arteriovenous fistula.

hyperplasia


Input: Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema.

primary lymphoedema

primary lymphoedema


Input: In vivo studies are necessary to definitely define the role of beta2 toxin in the development of cell cytotoxicity and subsequent diarrhoea.

diarrhoea


Input: Interleukin-6 stimulation of growth of prostate cancer in vitro and in vivo through activation of the androgen receptor.

prostate cancer

prostate cancer


Input: Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

Episodic ataxia type 2

Episodic ataxia type 2


Input: This study aimed to determine whether MIF1, MIF2 and NAGT are virulence factors for severe kala-azar.

kala-azar


Input: Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening.

Beta-globin

blood spots


Input: EGFR-TK mutation frequency is high in never-smoking lung cancer patients and is exclusive of mutation in K-ras but not p53.

EGFR

smoking


Input: Taxol treatment froze the cell cycle in the G (2)/M phase, induced morphological changes characteristic of apoptotic/necrotic cell death and increased CYP3A4 enzymatic activity, CYP3A4 mRNA and protein levels in HepG2 cells overexpressing CYP3A4.

necrotic cell death


Input: In the present work, a cooperative interaction between hypoxia, mediated by the HIF-1 complex, and transforming growth factor-beta (TGF-beta), mediated by Smad3/4, was revealed in the Epo gene.

TGF-beta

hypoxia


Input: In addition, the cardiac level of AT1R but not AT2R was significantly upregulated in mild failing hearts (p < 0. 05) but dramatically downregulated in severe failing ones (p < 0. 01).

mild


Input: Anthropometric measurements were taken and fasting glucose, insulin, homeostasis model assessment of insulin resistance (HOMA-IR), lipid profile, preptin, and osteocalcin were assessed.

preptin

insulin resistance


Input: C-MYC and BCL2 translocation frequency in diffuse large B-cell lymphomas: A study of 97 patients.

translocation


Input: We find that the Drosophila homolog of DSCR1, Nebula, delays neurodegeneration and ameliorates axonal transport defects caused by APP overexpression.

neurodegeneration


Input: [Significance of tumor necrosis factor-alpha gene polymorphism in patients with acute severe pancreatitis].

alpha gene

pancreatitis


Input: In SHSY-5Y neuroblastoma cells, corticosterone induced a rapid increase in BACE expression that was abolished by specific inhibiton of JNK activation or by spironolactone, a mineralocorticoid receptor antagonist, but not by mifepristone, a glucocorticoid receptor antagonist.

mineralocorticoid receptor

neuroblastoma


Input: This pilot study has compared the polymorphic genotype frequencies of methylenetetrahydrofolate reductase (MTHFR A1298C and C677T), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G), and thymidylate synthase (TS 2R/3R) in 113 patients with sporadic colorectal adenocarcinoma (SCA) and 188 healthy blood donors, used as matched controls.

MTRR

colorectal adenocarcinoma


Input: Our results showed the induction of HIF-1a via hypoxia and consequences of increased expressions of the TFF3 and VEGF in gastric cancer SGC-7901 cells.

VEGF

hypoxia


Input: Pain enhancement occurs in response both to intrathecally administered fractalkine and to spinal fractalkine endogenously released by peripheral neuropathy.

fractalkine

peripheral neuropathy


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

depression

depression


Input: In three children, the de novo variants were in genes with functional roles that are plausibly relevant to epilepsy (KCNH5, CLCN4, and ARHGEF15).

epilepsy

epilepsy


Input: Importantly, total baseline NPY methylation was associated with weight-loss regain (r =-0. 76; p < 0. 001), baseline plasma ghrelin levels (r = 0. 60; p = 0. 011) and leptin/ghrelin ratio (r =-0. 52; p = 0. 046).

NPY

weight


Input: Mice were treated intraperitoneally with cationic liposomes containing 200 micrograms of either a pCMV (cytomegalovirus)/p55 expression plasmid that contains the extracellular domain and transmembrane region of the human p55 TNF receptor, or a pcD-SR-alpha/hIL-10 expression plasmid containing the DNA for human interleukin 10.

SR-alpha

cytomegalovirus


Input: The sorcin-depleted phenotype can also be reproduced in lung adenocarcinoma A549 cells and lung fibrosarcoma HT1080 cells.

sorcin

fibrosarcoma


Input: Clinical diagnosis may not be possible in early life, because key features of PRLTS, for example infertility and premature ovarian failure, do not appear before puberty.

PRLTS

infertility


Input: Mutations occur in several genes in cytogenetically normal acute myeloid leukemia (AML) cells: the nucleophosmin gene (NPM1), the fms-related tyrosine kinase 3 gene (FLT3), the CCAAT/enhancer binding protein alpha gene (CEPBA), the myeloid-lymphoid or mixed-lineage leukemia gene (MLL), and the neuroblastoma RAS viral oncogene homolog (NRAS).

alpha gene

cytogenetically normal acute myeloid leukemia


Input: By exome sequencing we identified a homozygous missense mutation (p. Leu597Ser) in the SLC26A4 gene of a patient with hypoplastic thyroid tissue, who was otherwise healthy.

hypoplastic thyroid

hypoplastic thyroid


Input: Lung EC-SOD overexpression attenuates hypoxic induction of Egr-1 and chronic hypoxic pulmonary vascular remodeling.

EC-SOD

vascular remodeling