Input: GPX1 Pro (198) Leu polymorphism, erythrocyte GPX activity, interaction with alcohol consumption and smoking, and risk of colorectal cancer.

alcohol consumption


Input: On the basis of these results, mutations of the phospholipase A2 gene, at least in the region close to the polymorphism examined between exons 1 and 2, are not involved in the pathogenesis of bipolar mood disorder.

phospholipase A2

bipolar mood disorder

phospholipase A2

bipolar mood disorder


Input: The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas.

NF2 gene

sporadic


Input: In this report we examine the activities of the lysosomal endoproteinase cathepsin B and its endogenous inhibitor (s) in the red and white skeletal muscles of guinea pigs with nutritional muscular myopathy induced by vitamin E deficiency.

cathepsin B

myopathy

cathepsin B

myopathy


Input: We suggest that AgRP improves uremic cachexia and muscle wasting by a peripheral mechanism involving the balance between myostatin and IGF-I.

AgRP

cachexia


Input: HMAECs were treated with high or normal glucose and TLR-2, TLR-4, MyD88, IRF3, TRIF, nuclear NF-κB p65, IL-8, IL-1β, TNF-α, MCP-1, ICAM-1, sVCAM-1, monocyte adhesion to HMAECs, heparan sulfate and hyaluronic acid were measured.

NF-κB

adhesion


Input: The respiratory depression, which was due to loss of mitochondrial cytochrome c, was associated with decreased capacity of respiratory chain oxidative phosphorylation and enhanced cellular level of ROS.

cytochrome c

respiratory depression


Input: DOX induced left-ventricular dysfunction, oxidative/nitrosative stress coupled with impaired antioxidant defense, activation of MAPK (p38 and JNK), and cell death and/or fibrosis in hearts of wide-type mice (CB1 (+/+)), and these effects were markedly attenuated in CB1 knockouts (CB1 (-/-)).

ventricular dysfunction


Input: Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum.

eczema herpeticum


Input: The excessive deposition of versican in keloids was examined by immunohistochemical analysis and by upregulation of the versican gene in these lesions by real-time PCR.

versican gene

keloids


Input: Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function.

Kufor-Rakeb syndrome

Kufor-Rakeb syndrome


Input: The associations between LEP rs17151919 with weight tended to strengthen with time-the difference in weight associated with each additional minor allele increased from 2. 6 kg at baseline to 4. 8 kg at year 20 (SNP * time interaction p = 0. 0193).

LEP

weight


Input: Reduction of EphA2 phosphorylation by LCA may represent a novel approach for future anti-apoptotic treatment of heart failure and atrial fibrillation.

heart failure


Input: Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal dominant with linkage to chromosome 2q; early adult onset type 1, or Nonaka myopathy, an autosomal recessive disease linked to 9p1-q1 and considered indistinguishable from hereditary inclusion body myopathy; early adult onset type 2, or Miyoshi myopathy, with autosomal recessive inheritance linked to chromosome 2p12-p14; and early adult onset type 3, or Laing myopathy, autosomal dominant with linkage to chromosome 14.

distal myopathy


Input: In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots.

MRI

hypertrophy


Input: Suppression of LPS-induced neutrophilia by formoterol was impaired in Cebpb (ΔLE) mice and Cxcl1 expression was increased.

Cebpb

neutrophilia


Input: We sought to evaluate the predictive value of food sensitization and food allergy, FLG haploinsufficiency, and their combination in infants with early-onset eczema for persistent eczema and childhood asthma.

FLG

food allergy


Input: In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Based on these and other observations, we propose that PEX11 proteins act directly in peroxisome division, and that their loss has indirect effects on peroxisome metabolism.

peroxisome division

peroxisome division


Input: Mosaic supernumerary r (1) (p13. 2q23. 3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.

psychomotor retardation


Input: In conclusion, CD23 ligation is an alternative pathway in the induction of inflammatory product synthesis by astrocytes and participates in CNS inflammation.

inflammation


Input: Effects of obesity and stable weight reduction on UCP2 and UCP3 gene expression in humans.

weight reduction


Input: After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1).

WT1 gene

tuberculosis


Input: One-way analysis of variance (ANOVA) revealed no significant differences among 5 groups (depressive, cyclothymic, hyperthymic, irritable and anxious temperament) in healthy subjects for all the scores of affective temperaments by TEMPS-A.

ANOVA

irritable


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: Alternatively, an ongoing beta cell destruction and tissue inflammation, initiated by ppins/(K (b)/A (12-21))-specific CD8 T-cells in pCI/ppins + pCI/ppinsΔA (12-21) co-immunized PD-L1 (-/-) mice, facilitated the expansion of ppinsΔA (12-21)/(K (b)/B (22-29))-specific CD8 T-cells.

inflammation


Input: In comparison with the Ad-GFP group, the Ad-ACE2 group exhibited reduced systolic blood pressure, urinary albumin excretion, creatinine clearance, glomeruli sclerosis index and renal malondialdehyde level; downregulated transforming growth factor (TGF)-β1, vascular endothelial growth factor (VEGF) and collagen IV protein expression; and increased renal superoxide dismutase activity.

VEGF

systolic blood pressure


Input: Identification of c-Yes expression in the nuclei of hepatocellular carcinoma cells: involvement in the early stages of hepatocarcinogenesis.

c-Yes

hepatocarcinogenesis


Input: Five IL18 tagging single nucleotide polymorphisms (rs1946519, rs2043055, rs549908, rs360729, rs3882891) were selected and genotyped in the Gene-Diet Attica Investigation on childhood obesity (GENDAI) (age range 10-14 yrs); in young European men in the second European Atherosclerosis Research offspring Study (EARSII), an offspring study (age range 18-28 yrs) and in a group of healthy women from the Greek Obese Women study (GrOW) (age range 18-74 yrs).

childhood obesity


Input: Using the pathophysiology of CIPA as a foundation, this review investigates the ways in which NGF-dependent neurons contribute to interoception, homeostasis and emotional responses and, together with the brain, immune and endocrine systems, play crucial roles in pain, itch and inflammation.

NGF

itch


Input: Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

warburg micro syndrome

warburg micro syndrome


Input: It has been shown that Yes-associated protein (YAP) acts as a transcriptional co-activator to regulate p73-dependent apoptosis in response to DNA damage in some cell types, and promyelocytic leukemia (PML) protein is involved in the regulation loop through stabilization of YAP through sumoylation.

YAP

promyelocytic leukemia


Input: There was a significant decrease in bone mineral density (BMD) and bone mineral content (BMC) of the tibia bones together with a decrease in osteoprotegrin (OPG) expression but with a significant increase in receptor activator of nuclear factor kappa B ligand (RANKL) expression in osteoporotic rats.

RANKL

bone mineral density


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

NPRB

blood pressure


Input: GWAS was performed for two pneumoproteins, Clara cell secretory protein (CC16) and surfactant protein D (SP-D), and five systemic inflammatory markers (C-reactive protein, fibrinogen, IL-6, IL-8, and tumor necrosis factor-α) in 1, 951 subjects with COPD.

SP-D

fibrinogen


Input: We found that Dnmt3a expression was regulated in mouse nucleus accumbens (NAc) by chronic cocaine use and chronic social defeat stress.

cocaine use

cocaine use


Input: Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35.

translocation


Input: However, the degree of TP53 mRNA expression was predictive of sensitivity to C75-induced cytotoxicity, with low-TP53 mRNA expressing breast cancer cells showing hypersensitivity to FAS blockade.

hypersensitivity


Input: Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE).

CIP

CIP


Input: In patients and rats, septic shock was associated with a decreased expression of ACTH, unchanged expression of V1B receptor, CRHR1 and AVP mRNA, and increased expression of parvocellular iNOS compared to controls.

ACTH

septic shock


Input: The genotypic frequency of the HOX-1 group I was significantly higher than group II in the very severe COPD patients (36. 8% vs 22. 4%, P < 0. 01, OR = 2. 0, 95% CI 1. 3-3. 1), while the genotypic frequency of the HOX-1 group II was lower in the mild COPD (16. 0% vs 26. 0%, P = 0. 02, OR = 0. 5, 95% CI 0. 3-0. 9).

mild


Input: Microdissected tumor tissues were characterized by real-time quantitative PCR for the expression of HLA-ABC, beta2-microglobulin and the members of the antigen processing machinery (APM) of HLA class I molecules (LMP2, LMP7, TAP1, TAP2 and tapasin).

tumor


Input: KLK31P is a novel androgen regulated and transcribed pseudogene of kallikreins that is expressed at lower levels in prostate cancer cells than in normal prostate cells.

prostate cancer

prostate cancer


Input: Low-density lipoprotein receptor-related protein associated protein (LRPAP1) insertion/deletion polymorphism influences cholesterol homeostasis and may confer risk for gallstone disease and gallbladder carcinoma (GBC) incidence usually parallels with the prevalence of cholelithiosis.

lipoprotein receptor-related protein

gallstone disease


Input: Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber congenital amaurosis (LCA).

CRX

Leber congenital amaurosis

CRX

Leber congenital amaurosis


Input: Gene-smoking interaction analyses revealed a statistically significant interaction between cumulative cigarette smoking and the XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms: these polymorphisms were significantly associated with lung cancer in nonsmokers and light smokers (< 25 PY; OR = 4. 92, p = 0. 021 for XRCC1 399 Gln/Gln; OR = 3. 62, p = 0. 049 for XPD 751 Gln/Gln), but not in heavy smokers (> or = 25 PY; OR = 0. 68, p = 0. 566 for XRCC1 399 Gln/Gln; OR = 0. 46, p = 0. 295 for XPD 751 Gln/Gln).

smoking


Input: The beta subunit of the mitochondrial H (+)-ATP synthase (beta-F1-ATPase) and heat shock protein 60 (Hsp 60), and the glycolytic glyceraldehyde-3-phosphate dehydrogenase (GAPDH), used to define the bioenergetic cellular (BEC) index, were identified using mass spectrometry and specific antibodies.

GAPDH

shock


Input: Our study also indicates that epilepsy surgery is a valuable alternative in the treatment of drug-resistant DEPDC5-positive focal epilepsies, even if the MRI is unremarkable.

MRI

epilepsy


Input: Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family.

Bardet-Biedl Syndrome

Bardet-Biedl Syndrome


Input: Numerous CD30 + large cells were present in 4 LCT-CTCL consistent with secondary CD30 + ALCL; CD30 was expressed by < 10% of the large cells in another case and was negative in the other 3 lymphomas.

LCT

lymphomas


Input: Decreased NKX3. 1 protein expression in focal prostatic atrophy, prostatic intraepithelial neoplasia, and adenocarcinoma: association with gleason score and chromosome 8p deletion.

NKX3. 1

atrophy


Input: DCC encodes a transmembrane glycoprotein closely related to the adhesion molecules of the Neural Cell Adhesion Molecule (N-CAM) family.

DCC

adhesion


Input: Exposure of mice to ESAT-6 induced localized inflammatory cell aggregate formation with characteristics of early granuloma concomitant with increased keratinocyte chemoattractant CXCL1 staining in bronchiolar and alveolar type II epithelial cells and alveolar macrophages.

granuloma


Input: The FASN inhibitors cerulenin and orlistat reduced the growth of two LS cell lines (LiSa2, SW872), as did inhibition of ACC with soraphen A. CDDO-Me, a synthetic triterpenoid, suppressed expression of Spot 14 and FASN genes and likewise inhibited LS cell growth.

FASN

LS

FASN

LS


Input: We produced an LRAT gene knock-out mouse strain and assessed whether LRAT-/-mice were more susceptible to vitamin A deficiency than wild type (WT) mice.

LRAT

vitamin A deficiency

LRAT

vitamin A deficiency


Input: SOX30 was expressed in normal and peri-tumoral lung tissues in which SOX30 was unmethylated, but was silenced or downregulated in lung cancer cell lines and primary lung tumor tissues harboring a hypermethylated SOX30.

lung cancer

lung cancer


Input: However, whether brain tumor-resident Tregs are thymus-derived natural Tregs (nTregs) or induced Tregs (iTregs), by the conversion of conventional CD4 (+) T cells, has not been established.

brain tumor


Input: The BPA patients had a later onset of panic disorder and a higher familial prevalence of PD.

BPA

panic disorder


Input: Exposure of cultured undifferentiated human keratinocytes to a sterile nontoxic small molecule of < 10 kDa from S. epidermidis conditioned culture medium (SECM), but not similar preparations from other bacteria, enhanced human beta-defensin 2 (hBD2) and hBD3 mRNA expression and increased the capacity of cell lysates to inhibit the growth of group A Streptococcus (GAS) and S. aureus.

sterile


Input: In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12.

TGFBI gene

sporadic


Input: The full-length cDNA sequences of JS-1 and JS-2 were determined from a non-tumor esophageal epithelial cell line by 3' and 5' rapid amplification of cDNA ends (RACE).

RACE

esophageal


Input: We had previously shown that one single nucleotide polymorphism (SNP) of the IL18 gene was associated with cardiovascular disease (CVD) through an interaction with smoking.

IL18 gene

smoking


Input: Both severe hypoxia with nutrient deprivation and HIF-1α transfection led to the cessation of DCP production, by attenuating protein synthesis through the hypophosphorylation of mammalian target of rapamycin and its effector proteins, indicative of a further phenotypic shift involving impaired liver-specific protein synthesis.

mammalian target of rapamycin

hypoxia


Input: For Latin Americans, a significant difference in individual cases versus controls was observed for FMO3 158 and 257 for schizophrenia delusions as well as hallucinations and delusions.

delusions


Input: Hence, S100P could be considered a potential drug target or a chemosensitization target, and could also serve as a biomarker for aggressive, hormone-refractory and metastatic prostate cancer.

metastatic prostate cancer


Input: We investigated HIV-1 replication in CD14 (+) monocytes and resting and activated CD4 (+) T cells by measuring the levels of cell-associated viral DNA and mRNA and the genetic evolution of HIV-1 in seven acutely infected patients whose plasma viremia had been < 100 copies/ml for 803 to 1, 544 days during highly active antiretroviral therapy (HAART).

viremia


Input: Four independent deletions were located within the protein tyrosine phosphatase gene, PTPRD, recently implicated as a candidate gene for restless legs syndrome, which frequently presents with ADHD.

PTPRD

ADHD

PTPRD

ADHD


Input: Twice-daily administration of Ex-4 (1 μg/kg) for 3 days after ischemia (30 min before and 30 min after ischemia on the day of surgery and 2 more days) decreased the number of Fluoro-Jade B-stained cells in the CA1 pyramidal region of the hippocampus of the ischemic brain.

ischemia


Input: Univariate Cox proportional hazard analyses showed a higher risk of late xerostomia for patients with XRCC3 722 TT/CT alleles.

xerostomia


Input: We demonstrate that the cytogenetically defined translocation t (X; 1) (p11. 2; p34) observed in papillary renal cell carcinomas results in the fusion of the splicing factor gene PSF located at 1p34 to the TFE3 helix-loop-helix transcription factor gene at Xp11. 2.

PSF

translocation


Input: Furthermore, a role for Atp8b3 in mouse sperm cell capacitation has been suggested, whereas deficiency of Atp10a and Atp10d leads to insulin resistance and obesity in mice.

insulin resistance


Input: Deficiency in coagulation factor IX, a plasma glycoprotein constituent of the clotting cascade, results in hemophilia B, an inherited recessive X-linked bleeding disorder.

coagulation factor IX

hemophilia B

coagulation factor IX

hemophilia B


Input: To evaluate the inhibitory effect of vasostatin gene mediated by a replication deficient recombinant adenovirus (Ad) on human pancreatic cancer in vivo and to investigate the mechanism of action of vasostatin.

vasostatin

adenovirus


Input: We hypothesized that genetic variants within the GHSR are associated with parameters of left ventricular mass (LVM) and geometry.

GHSR

left ventricular mass


Input: We sought to determine if XRCC2 mutation is important to uterine carcinosarcoma tumorigenesis and whether the XRCC2 poly-T tract is a target for mutation in cells lacking MMR.

MMR

tumorigenesis


Input: They also led to increased collagen and fibroblast levels and upregulated transforming growth factor-β (1) (TGF-β (1)) and vimentin transcripts, providing measures of fibrosis and reduced Nav1. 5 expression.

Nav1. 5

fibrosis


Input: Psychopathological symptoms, doses, and duration of treatment with risperidone, sex, skin color, body mass index (BMI), use of other psychotropic drugs, and polymorphisms of DRD2, HTR2C, CYP2D6, LEP, LEPR, MC4R, and SCARB2 genes were evaluated.

skin color


Input: R77H did not affect neutrophil adhesion, neutrophil transmigration in vivo or Toll-like receptor 7/8-mediated cytokine release by monocytes or dendritic cells with or without CR3 pre-engagement by iC3b-coated targets.

Toll-like receptor 7

adhesion


Input: We also examined β-catenin expression and the mutation spectrum of PPP2R1A and Wnt pathway genes in 11 cases of GD-CCP, 25 cases of gastric polyps of fundic gland type (GPs-FG), and 21 cases of GPs-FG with dysplasia (GP-FGD).

β-catenin

gastric polyps


Input: To evaluate the role of matrix metalloproteinase (MMP)-9 deletion on citrate synthase (CS) activity postmyocardial infarction (MI).

citrate synthase

infarction


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

atherosclerosis

atherosclerosis


Input: We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4).

developmental delay


Input: Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene.

FCN2 gene

recurrent infections


Input: Thymidylate synthase (TS) and dihydrofolate reductase (DHFR) are target enzymes of inhibition by pemetrexed, an antifolate for treatment of advanced non-small-cell lung cancer (NSCLC).

DHFR

lung cancer


Input: Administration of spironolactone (10 and 20 mg/kg) significantly attenuated chronic constriction injury-induced pain related behaviour and foot deformity along with attenuation of TNF-& #945; levels, without modulating vincristine-induced neuropathic pain.

TNF

neuropathic pain

TNF

neuropathic pain


Input: Of 12 esophageal cancer specimens heterozygous for the RsaI polymorphism, 6 (50%) exhibited LOI of H19, but none of the 18 colorectal cancer specimens heterozygous for the RsaI polymorphism exhibited LOI of H19.

esophageal cancer


Input: Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

anhidrotic ectodermal dysplasia

anhidrotic ectodermal dysplasia


Input: The aim of this study was to determine the effect of bacterial infection on Foxo3a in intestinal epithelial cells and to examine the contribution of Foxo3a in intestinal inflammation.

inflammation


Input: To clarify the role of 14-3-3sigma, we examined the protein expressions of 14-3-3sigma, cyclin B1, and p53 in 93 cases of intrahepatic cholangiocarcinoma by immunohistochemical staining.

cyclin B1

intrahepatic cholangiocarcinoma


Input: To assess genetic and environmental influences on low back and neck pain in a classic twin design and to examine the extent to which these are explained by structural changes seen on magnetic resonance imaging (MRI) and psychological and lifestyle variables.

MRI

neck pain


Input: Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c. 359G & gt; T (p. (R120L)), in two unrelated patients.

CMI

CMI


Input: [Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome].

DAZ

infertile


Input: All C57BL/6, BALB/c, CBA/J, or Swiss Webster died of acute toxoplasmosis by 3-9 days postinfection upon inoculation with same dose of tachyzoites of the PLK strain.

PLK

toxoplasmosis


Input: Our data suggest that NO derived from iNOS may be a key factor in the pathogenesis of acute INDO-induced enteropathy in rats.

iNOS

enteropathy

iNOS

enteropathy


Input: RAD51 paralog B (RAD51B), the preferential translocation partner of HMGA2, was up-regulated in MED12 mutant lesions, suggesting a role for this gene in the genesis of leiomyomas.

translocation


Input: Recent studies showed that nutrient and oxygen starvation during tissue ischemia induce certain ER stress response genes, including GRP78; however, the role of ATF6 in mediating this induction has not been examined.

ischemia


Input: In addition to the reproductive defects, heritable phenotypes were observed in mice with ataxia (Myo5a), tremors (Pmp22), growth retardation (unknown gene), and hydrocephalus (unknown gene).

ataxia


Input: Expression of K14 (R125C)/K5 caused semi-lethality; adult survivors developed wing blisters and were flightless due to a lack of intercellular adhesion during wing heart development.

adhesion


Input: In particular, we identified increases in the mutagenic nonhomologous end joining and single-strand annealing mechanisms in sporadic breast cancers with wild-type BRCA1 and BRCA2, and, thus, similar phenotypes to tumors with mutant alleles of BRCA1 and BRCA2.

sporadic


Input: CaT1 expression correlates with tumor grade in prostate cancer.

prostate cancer

prostate cancer


Input: STAT1 and miR-146a may be upregulated during inflammation and via proinflammatory cytokines and chemokines in SLE.

inflammation


Input: A20 deletion and TNFA/B/C gain were significantly associated (p < 0. 001) and exclusively found in cases without characteristic translocation.

TNFA

translocation


Input: The aim of the present research was to investigate the possible in vitro stimulatory effect of substance P (SP) on blasts induction in childhood common acute lymphoblastic leukaemia (ALL).

substance P

common acute lymphoblastic leukaemia


Input: We describe a knockin mouse with mutationally activated Met (Met (mut)) that develops a high incidence of diverse mammary tumors with basal characteristics, including metaplasia, absence of progesterone receptor and ERBB2 expression, and expression of cytokeratin 5.

metaplasia


Input: Thus, our results demonstrate that NOX1 is involved in the mechanisms of angiotensin II-dependent aortic dissection.

angiotensin II

aortic dissection

angiotensin II

aortic dissection


Input: The association between the expression of excision repair cross‑complementing gene 1 (ERCC1), thymidylate synthase (TYMS), ribonuleotide reductase M1 (RRM1), βIII‑tubulin (TUBB3), non‑muscle myosin II, myoglobin and MyoD1 in metastatic lung adenocarcinoma, and clinical outcomes with platinum‑based chemotherapy treatment is not well‑established.

metastatic lung adenocarcinoma


Input: The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.

cytoskeletal protein

atelosteogenesis


Input: This approach to controlling the release behavior of TAT-HSP27 using microsphere/hydrogel combination delivery systems may be useful for treating myocardial infarction in a minimally invasive manner.

TAT

myocardial infarction


Input: The FUS-CREB3L2 fusion transcripts were not detected in any of the 123 other soft-tissue tumors, including desmoid-type fibromatoses, myxofibrosarcomas, soft-tissue perineuriomas, and congenital or adult fibrosarcomas.

FUS

desmoid


Input: In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).

EGFR

dermatitis

EGFR

dermatitis


Input: We investigated whether the RyR2 rs3766871 variant is associated with aborted sudden cardiac death or ICD therapy for ventricular tachycardia (VT)/fibrillation (VF) in heart failure (HF) patients implanted with a cardioverter defibrillator (ICD).

aborted sudden cardiac death


Input: We analyzed exons 19 and 21 coding for the receptor tyrosine kinase of the epidermal growth factor gene in 105 samples of esophageal (Barrett' s) adenocarcinoma by denaturing high-pressure liquid chromatography.

epidermal growth factor

esophageal


Input: Human mutations of ank lead to craniometaphyseal dysplasia, a disease which is characterized by the overgrowth of craniofacial bones and osteopenia in long bones, suggesting that ANK plays a regulatory role in osteoblast differentiation.

ANK

osteopenia


Input: For instance, GLUT2 translocation from an intracellular pool to the apical membrane after a sugar meal transiently increases sugar uptake by enterocytes (reviewed in 32).

translocation


Input: We show that DCOVA-P30 vaccine also stimulates more efficient therapeutic immunity against OVA-expressing BL6-10OVA melanoma than DCOVA in C57BL/6 mice.

melanoma


Input: There is evidence that several cytokines, including adiponectin, TNF-alpha, and IL-6, are involved in insulin sensitivity.

insulin sensitivity


Input: We analyzed for LINE-1 hypomethylation and hypermethylation at 7 CIMP-specific CpG islands (CACNA1G, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1); microsatellite instability (MSI); KRAS, BRAF and PIK3CA mutations; and expression of TP53 (p53), CTNNB1 (β-catenin), CDKN1A (p21), CDKN1B (p27), CCND1 (cyclin D1), FASN (fatty acid synthase) and PTGS2 (cyclooxygenase-2).

microsatellite instability


Input: The purpose of our study was to evaluate the expression and correlation of heparanase and VEGF in hypoxia-induced retinal neovascularization.

heparanase

hypoxia


Input: The role of the LPA pathway in driving chronic lung diseases such as idiopathic pulmonary fibrosis (IPF) has gained considerable academic and industry attention.

LPA

lung diseases


Input: Moreover, we detected the endogenous protein complex containing ICAT, AR, and β-catenin in prostate cancer cells using immunoprecipitation assays.

ICAT

prostate cancer


Input: PLAA has not previously been described as a susceptibility gene, but 9p21 is implied as a schizophrenia linkage region.

PLAA

schizophrenia

PLAA

schizophrenia


Input: To investigate whether or not alternatively spliced variants of the FSH receptor gene occur in human testis and whether the presence of the splicing variants is associated with spermatogenic defects and serum FSH concentration in infertile men.

FSH receptor

infertile


Input: We determined clinical and biochemical parameters in two familial and four sporadic Japanese patient and analyzed the status of the NR3C2 gene.

NR3C2 gene

sporadic


Input: A more complete understanding of the physiologic roles of PLC isozymes and their contributions to specific aspects of cellular function should advance our understanding of vascular tone/reactivity and hypertrophy/remodeling in normal and hypertensive states.

PLC

hypertrophy


Input: We also evaluated the expression level of Kv1. 3 in each stage of breast cancer using mRNA isolated from breast cancer patients.

Kv1. 3

breast cancer


Input: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

LIPN

congenital ichthyosis

LIPN

congenital ichthyosis


Input: This distinguishes MSSE from the Marfan syndrome-related disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.

MSSE

MSSE


Input: (1) Patients with primary (n = 13) and secondary (n = 11) PAH but not those with chronic thromboembolic pulmonary hypertension (n = 8) had increased plasma levels of soluble (s) CD40L compared with control subjects (n = 8).

pulmonary hypertension

pulmonary hypertension


Input: In an attempt to dissect the role played by mGluR2 and mGluR3 in cue-induced reinstatement, we analyzed the mRNA expression patterns in several relevant brain areas but did not find any significant differences between cocaine addict-like and non-addict-like rats, suggesting that the behavioral differences observed are due to translational rather than transcriptional regulation.

cocaine addict

cocaine addict


Input: DNA cytophotometry was performed in 12 cases of eAd HCC, in which the early HCC component, advanced HCC component and non-tumorous liver tissue showing chronic hepatitis or cirrhosis were analyzed separately.

HCC

chronic hepatitis


Input: Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using markers from Xq26-q27, followed by linkage analysis and sequencing of a candidate gene, solute carrier family 25, member 14 (SLC25A14), in four affected individuals from four families linked to this region.

congenital nystagmus


Input: These findings suggest that the HNF1A p. I27L (rs1169288) variant may be a significant risk factor of T2DM in normal-weight subjects and that earlier inconsistent results may have been due, in part, to subjects' weight status.

weight


Input: Thus, it appears that genetically determined signals for either proliferation or differentiation would lead CD5 + B cells to cause distinct disease, i. e., autoimmune disease or lymphoid malignancy.

autoimmune disease


Input: In group III, protein loss was detected in 12/38 patients (9 MLH1, 3 MSH2), while in 3/11 patients with concurrent endometrial hyperplasia protein loss was also observed in the hyperplasia.

hyperplasia


Input: Nonetheless, mice with null mutations for NF-L or for both NF-M and NF-H genes developed severe atrophy of ventral and dorsal root axons.

NF-M

atrophy


Input: Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.

hypotonia

hypotonia


Input: We pooled data from 10 existing studies and also conducted a meta-analysis of 13 studies published from 1996 to October 2006 that were conducted among women, were published in English, and had adequate information on smoking and NAT2 genotyping.

smoking


Input: Since the combined effects of CD40 plus interleukin-4 (IL-4) mediate IgH isotype class switch recombination (CSR), and this process involves DNA double strand break repair (DSBR), we hypothesized that CD40 and/or IL-4 activation of MM cells could induce abnormal DNA DSBR and lead to genomic instability and clonal evolution.

genomic instability


Input: The effects of heat treatment on the viability and fibrinolytic potential of four cultured human carcinoma cell lines, fibrosarcoma cells (HT-1080), lung adenocarcinoma cells with highly metastatic potential (HAL-8), melanoma cells (Bowes) and osteosarcoma cells (NY), determined by measuring their levels of urokinase-type plasminogen activator (u-PA) and its specific receptor (u-PAR), were investigated by comparing them with those of human umbilical vein endothelial cells (HUVECs).

HAL

fibrosarcoma


Input: These data demonstrate that miR-142-3p downregulation has a role in thyroid tumorigenesis, by regulating ASH1L and MLL1.

tumorigenesis


Input: In infertile men with a microdeletion of the DAZ gene, this method allows amplification of an internal control when a deletion of that portion of the Yq chromosome is observed on a single amplification.

DAZ

infertile


Input: Wild-type or APP/PS1 mice that received type II collagen (CII) in complete Freund' s adjuvant (CFA) at 2 months of age revealed characteristics of RA, such as joint swelling, synovitis, and cartilage and bone degradation 4 months later.

APP

synovitis


Input: HGF gene therapy could be a new approach for preventing excessive dermal scarring in wound healing.

HGF gene

scarring


Input: We developed an all-in-one web-based tool for genotyping Mtb, referred to as the Total Genotyping Solution for TB (TGS-TB), to facilitate multiple genotyping platforms using NGS for spoligotyping and the detection of phylogenies with core genomic SNVs, IS6110 insertion sites, and 43 customized loci for variable number tandem repeat (VNTR) through a user-friendly, simple click interface.

TGS

all


Input: Clear cell sarcoma (CCS), a rare tumour of deep soft tissues, often has a t (12; 22) (q13; q12) translocation that induces the formation of a hybrid EWS/ATF-1 gene.

EWS

translocation


Input: PRI-2191 alone had no effect on gene expression, but it enhanced the seizure-evoked expression of HSP-70, had an opposite effect on BDNF mRNA level and did not affect prepro-TRH mRNA level.

TRH

seizure

TRH

seizure


Input: Here, the role of c-FLIP in the regulation of death receptor-mediated apoptosis in pancreatic cancer was investigated.

c-FLIP

pancreatic cancer

c-FLIP

pancreatic cancer


Input: Although it is not a primary cause of retinal blindness in humans, we show that an allele of AHI1 is associated with a more than sevenfold increase in relative risk of retinal degeneration within a cohort of individuals with the hereditary kidney disease nephronophthisis.

retinal degeneration

retinal degeneration


Input: Multivariate analysis by ordinal regression showed that pneumonia (odds ratio, 3. 39; 95% confidence interval, 1. 49-7. 61; P =. 004) and sputum production (odds ratio, 1. 75; 95% CI, 1. 01-3. 01; P =. 046) were the 2 independent factors associated with a higher level of convalescent NAT.

NAT

pneumonia


Input: The SE and the IL10 GGC haplotype are associated with severe progression of radiographic damage, in contrast to the DQA1 * 05-DQB1 * 02 haplotype and the TNF-308A allele, which are associated with mild radiographic progression in early UA.

GGC

mild


Input: MSH6 germline mutations are rare in colorectal cancer families.

colorectal cancer

colorectal cancer


Input: When included in the same model, CFTR genotype, but not sweat chloride, was independently associated with survival and with lung function, height, and BMI.

CFTR

height


Input: These results showed that, in contrast to the reports on breast cancer, NDP kinase/nm23 expression in human pancreatic cancer is positively associated with lymph node metastasis or perineural invasion and with poor prognosis.

NDP

lymph node metastasis


Input: Assessment of smoking status and smoking exposure in current/light/heavy smokers showed that the risk of COPD was significantly elevated among individuals with 3-4 of hOGG1 326Cys and XRCC1 399Gln alleles (adjusted OR = 8. 32, 95% CI 3. 59-19. 27, P = 0. 000; OR = 5. 46, 95% CI 2. 06-14. 42, P = 0. 001; OR = 2. 93, 95% CI 1. 43-6. 02, P = 0. 003; respectively).

smoking


Input: The precise disease mechanism (s) in familial forms and sporadic forms of PDB is unclear, although defective RANK-NF-kappaB signalling has been suggested to contribute to the increased activity of pagetic osteoclasts in the former.

NF-kappaB

sporadic


Input: The phosphorylation of NHERF1 in the serine site was regulated by PRL-3 and showed cytoplasmic translocation upon dephosphorylation, which resulted in a decrease in nuclear PTEN.

translocation


Input: P2X (7) receptor message and protein expression and functional activity were tested in two cell lines (FB1 and FB2) established from either anaplastic or papillary primary thyroid cancer and in several histological samples of human papillary cancer.

cancer


Input: Progesterone receptor gene polymorphisms are not associated with preterm birth in a Hispanic population.

Progesterone receptor gene

preterm birth


Input: The beat shock protein HSP70 recognizes a specific region of SOX9 hitherto of unknown function which may facilitate the assembly of multi-protein complexes at promoter enhancer regions.

shock


Input: Tissue glutathione content declined gradually during ischemia to reperfusion and was partially recovered with CAPE treatment.

CAPE

ischemia


Input: TAC1 promoter hypermethylation was examined by real-time methylation-specific PCR in 258 human esophageal specimens and 126 plasma samples from patients or tissues at various stages of neoplastic evolution.

esophageal


Input: Seventy-nine specimens of ascites and pleural fluids were analyzed by diagnostic cytology, DNA flow cytometry, and for the expression of the following markers: Ber-EP4, progesterone (PR), MUC4, and thyroid transcription factor-1 (TTF-1).

ascites


Input: These CR1 (hu) Tg/CFH (-/-) mice spontaneously developed proliferative glomerulonephritis, which was accelerated in a chronic serum sickness model by active immunization with heterologous apoferritin.

apoferritin

proliferative glomerulonephritis


Input: Although the severity of fibrosis varied among the specimens tested, ECM gene expression was consistently high without substantial changes through the clinical course.

ECM

fibrosis


Input: Role of ADAM-17, p38 MAPK, cathepsins, and the proteasome pathway in the synthesis and shedding of fractalkine/CX₃ CL1 in rheumatoid arthritis.

rheumatoid arthritis


Input: We have demonstrated that these (CD4 +) CD25 + regulatory T cells (Treg) influence susceptibility to thyroiditis in naive, as well as mTg-tolerized mice.

thyroiditis


Input: mRNA and protein levels of TNFalpha, IL-12 (p35), IL-12 (p40), IL-15, IL-18 and IL-23 (p19) were quantified in biopsies from active CD patients, CD patients on a gluten-free diet (GFD), healthy controls, and patients with non-CD inflammation and mild histological changes in the intestine.

inflammation


Input: In addition, we demonstrate for the first time that rHuEpo reduces considerably hippocampal neurodegeneration following SE. rHuEpo may thus supplement astroglial induction of Epo to promote enhanced hippocampal neuronal survival following SE.

Epo

neurodegeneration

Epo

neurodegeneration


Input: Here, we examined at what stage of breast disease 14-3-3 zeta overexpression occurs, and we found that increased expression of 14-3-3 zeta begins at atypical ductal hyperplasia, an early stage of breast disease.

14-3-3 zeta

breast disease


Input: These findings indicate Ets-1 and HIF1alpha as critical regulators of basal and hypoxia-or ROS-induced ZNF267 expression in HCC, and further suggest that the pro-tumorigenic effect of these factors is at least in part mediated via increased ZNF267 expression in HCC.

hypoxia


Input: Secretory nonpancreatic phospholipase A2 (group II sPLA2) is induced in inflammation and present in atherosclerotic lesions.

inflammation


Input: The present study indicates that the hOGG1 gene Cys/Cys variant is associated with a significant decrease in insulin sensitivity in subjects with normal glucose tolerance.

insulin sensitivity


Input: HOE 140 significantly reduced the hyperemia induced by bradykinin and intraduodenal capsaicin or acid.

bradykinin

hyperemia

bradykinin

hyperemia


Input: chronic atrophic gastritis, intestinal metaplasia and invasive carcinoma, are associated with a reallocation of the LGR5 (+) cells.

chronic atrophic gastritis


Input: Our aims were to replicate some previously reported associations of single nucleotide polymorphisms (SNPs) in five genes (A2BP1, COG5, GDF5, HFE, ESR1) with hand osteoarthritis (OA), and to examine whether genes (BCAP29, DIO2, DUS4L, DVWA, HLA, PTGS2, PARD3B, TGFB1 and TRIB1) associated with OA at other joint sites were associated with hand OA among Finnish women.

osteoarthritis


Input: Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.

PINK1 gene

sporadic


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.

bipolar disorder

bipolar disorder


Input: The present study suggests that, in a subgroup of patients with complete heart block, the development of heart block is B27-associated, and that the pathophysiological mechanism is similar to that leading to ankylosing spondylitis.

complete heart block


Input: Surprisingly, biallelic mutations in the BRCA2 breast-cancer-susceptibility gene were found in Fanconi anemia (FA), a rare hereditary disorder characterized by chromosomal instability, hypersensitivity to DNA cross-linking agents, and cancer susceptibility.

chromosomal instability


Input: Using combined molecular biological, fluorescence microscopy, and biophysical approaches, we examined the effect of chronic hypoxia (3% O2, 72 h) on AP-1 DNA binding activity, CCE, and transient receptor potential (TRP) gene expression in human (h) PAEC.

hypoxia


Input: Hypermethylation of TSG can be detected in serum of prostate cancer patients.

TSG

prostate cancer


Input: Twenty-nine (21%) and 40 (40%) study and SOC patients, respectively, had advanced fibrosis (F3/4; P = 0. 001).

SOC

fibrosis


Input: AGR2 SV-G and SV-H are potential diagnostic biomarkers for the non-invasive detection of PCa using urine exosomes.

PCa

PCa


Input: This suggests CKI defects are frequently responsible for neoplastic transformation in canine mammary carcinomas.

CKI

neoplastic transformation


Input: To investigate the correlation between the expressions of human telomerase reverse transcriptase (hTERT) and vascular endothelial growth factor (VEGF) in prostate cancer (PCa) and benign prostatic hyperplasia (BPH), and to determine if hTERT was correlated with VEGF-promoted tumor cell proliferation in prostate cancer.

telomerase reverse transcriptase

benign prostatic hyperplasia


Input: No difference in occurrence of mutations between polyploid and diploid tumors was observed for BAP1, SF3B1, EIF1AX, GNAQ, and GNA11.

polyploid


Input: Moreover, mouse hearts isolated from GNB3 (-/-) and controls responded equivalently to muscarinic receptor-and β-adrenergic receptor-stimulated bradycardia and tachycardia, respectively.

bradycardia


Input: These data suggest that changes are apparent in markers for abnormal glial-neuronal communication (connexin 43 and aquaporin 4) in brains of subjects with autism.

connexin 43

autism

connexin 43

autism


Input: Key attributes defining the malignant phenotype of melanoma cells including survival, invasiveness, and switch from E-cadherin to N-cadherin expression were more prominent in cells with lower GCLC expression.

GCLC

melanoma


Input: Glutathione S-transferase mu 3 (GSTM3) has been proven to be downregulated in renal cell carcinoma (RCC).

renal cell carcinoma


Input: Weight, height, BMI, SBP, DBP, fasting glucose, lipid profile, proinsulin, insulin, leptin, and adiponectin (RIA) of patients were also obtained.

DBP

height


Input: FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia: A Low-Burden Disease with Dramatic Response to Imatinib-A Report of 5 Cases from South India.

Chronic Eosinophilic Leukemia

Chronic Eosinophilic Leukemia


Input: Two RANTES-403 (G to A) and-28 (C to G), an-1055 IL-13 (C to T), and a-444 (A to C) leukotriene C4 synthase (LTC4S) single nucleotide polymorphisms (SNPs) have been shown in Caucasians and Asians as asthma and atopy risk factors.

atopy


Input: Multivariate survival analysis using Cox regression model confirmed FGFR1-positive patients had a significant reduction in the risk of death compared to FGFR1-negative patients (HR 0. 6; p = 0. 02).

regression


Input: The defective gene responsible for this disease was recently isolated, and several different mutations in the novel gene, AIRE, have been identified, by us and by others, in patients with APECED.

AIRE

APECED

AIRE

APECED


Input: Simultaneously expressed miR-424 and miR-381 synergistically suppress the proliferation and survival of renal cancer cells---Cdc2 activity is up-regulated by targeting WEE1.

renal cancer


Input: PRKAR1A is a key component of the cyclic AMP signaling pathway that has been implicated in endocrine tumorigenesis and could, at least partly, function as a tumor suppressor gene.

tumorigenesis


Input: The results of this study suggest that GSTP1, INSIG2 and IL4Ra may influence the lifetime asthma susceptibility through gene-gene interactions in schoolchildren.

asthma susceptibility


Input: Our data demonstrate that miR-323 may increase VEGF-A-mediated cancer vascularization in PC cells through AdipoR1 suppression.

vascularization


Input: In previous studies, we have shown the clinical significance of two tyrosine kinases identified in gastric cancer, tie-1 and mkk4.

gastric cancer


Input: In vivo experiments with murine models have shown that SP-D can protect against allergic challenge via a range of mechanisms including inhibition of allergen-IgE interaction, histamine release by sensitised mast cells, downregulation of specific IgE production, suppression of pulmonary and peripheral eosinophilia, inhibition of mechanisms that cause airway remodelling, and induction of apoptosis in sensitised eosinophils.

SP-D

airway remodelling


Input: We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied.

BAMS

BAMS


Input: Pharmacological inhibition of Pin1 by Juglone prevents hyperglycemia-induced vascular dysfunction.

hyperglycemia


Input: A feasibility study was performed to examine the safety and toxicity profile of daily gefitinib (250 mg) administration with concurrent definitive thoracic radiation therapy (TRT) in patients with unresectable non-small cell lung cancer (NSCLC) of stage III.

TRT

thoracic


Input: We examined toll-like receptor 4 (TLR4) as a candidate gene for AMD susceptibility because: (i) the TLR4 gene is located on chromosome 9q32-33, a region exhibiting evidence of linkage to AMD in three independent reports; (ii) the TLR4-D299G variant is associated with reduced risk of atherosclerosis, a chronic inflammatory disease with subendothelial accumulation; (iii) the TLR4 is not only a key mediator of proinflammatory signaling pathways but also linked to regulation of cholesterol efflux and (iv) the TLR4 participates in phagocytosis of photoreceptor outer segments by the RPE.

RPE

atherosclerosis


Input: Using the polymerase chain reaction, we have amplified exons 5 and 6 of the human p53 gene from paired samples of tumour and blood DNA of 60 patients with sporadic breast tumours and from placental or tonsil DNA of 30 normal controls.

p53 gene

sporadic


Input: Factor VII antigen and coagulant activity was significantly elevated in first degree relatives, as was factor VII antigen in the patients with ischemic heart disease.

factor VII

ischemic heart disease


Input: The expression level of Mimitin was found to be correlated with that of c-Myc and cell proliferation, but not with the histopathological grade, stage of cancer, or age of patients.

Mimitin

cancer


Input: Proatherosclerotic lipid abnormalities are associated with both enhanced oxidant stress and the generation of biologically active oxidized lipids, including potential ligands for the scavenger receptor CD36, a major platelet glycoprotein.

abnormalities


Input: A 73-year-old man presented with typical lesions of disseminated superficial porokeratosis (DSP) and multiple seborrhoeic keratoses on his face, trunk and extremities, and later developed a keratoacanthoma on his lip.

DSP

keratoacanthoma


Input: To identify other genes that may interact with DJ-1A in regulating cell survival, we performed genetic interaction studies and identified components of the phosphatidylinositol 3-kinase (PI3K)/Akt-signaling pathway as specific modulators of DJ-1A RNAi-induced neurodegeneration.

neurodegeneration


Input: Activation of MyD88-dependent TLR1/2 signaling by misfolded α-synuclein, a protein linked to neurodegenerative disorders.

neurodegenerative disorders


Input: ),-21,-22 [20]/idemx2 [5] and displays known, chordoma-typical genetic changes, such as chromosomal gains at T/brachyury locus (6q27), losses at 9p24. 3-p13. 1 (includes the CDKN2a/CDKN2b locus), 10p15. 3-q23. 32 (includes the PTEN locus) and losses of 10q25. 2 (includes the PDCD4 locus).

chordoma


Input: After evaluation of secondary causes of eosinophilia, the 2008 World Health Organization establishes a semi-molecular classification scheme of disease subtypes including' myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1', chronic eosinophilic leukemia, not otherwise specified, (CEL, NOS), lymphocyte-variant hypereosinophilia, and idiopathic hypereosinophilic syndrome (HES), which is a diagnosis of exclusion.

PDGFRA

abnormalities


Input: In addition, AR inhibition also prevented the hypoxia-induced inflammatory molecules such as Cox-2 and PGE2 and expression of extracellular matrix proteins such as MMP2, vimentin, uPAR, and lysyl oxidase 2.

lysyl oxidase

hypoxia


Input: Collagen & #8197; I & #8197; and IGF-1 expression was increased, and SIRT1 expression was decreased (0. 67 & #177; 0. 04 vs 1. 05 & #177; 0. 07, P & lt; 0. 001) in TNBS-induced colitis compared with the control group.

colitis

colitis


Input: Ten weeks after the onset of diabetes, albuminuria and expression of nephrin, synaptopodin, and zonula occludens-1 were examined by immunofluorescence and immunoblotting.

synaptopodin

diabetes


Input: In this work, we present the construction of a recombinant adenovirus carrying the XPD gene, which is coexpressed with the EGFP reporter gene by an IRES sequence, making it easier to follow cell infection.

XPD gene

adenovirus


Input: To gain insight into this issue, we analysed tumours from 65 Jewish women with ovarian cancer, 29 (45%) were 185delAG BRCA1 mutation carriers, and 36 (55%) were non-carriers of any of the predominant Jewish mutations in BRCA1 or BRCA2 (sporadic).

sporadic


Input: MYC mRNA expression was significantly higher in tumors than in non-neoplastic samples.

MYC

non-neoplastic


Input: In the diabetes-linked region of chromosome 18q12-q21, a candidate gene, deleted in colorectal carcinoma (DCC), was tested for association with human autoimmunity in 3, 380 families with type 1 diabetes, MS, and RA.

DCC

diabetes


Input: We have examined the hypothesis that expression of the BRCA2 gene may be suppressed in sporadic breast cancers by a mechanism that is associated with increased methylation of cytosine residues in the promoter region.

BRCA2 gene

sporadic


Input: The frequency of HLA-B (*) 07 (28. 57%) and DRB1 (*) 11 (15. 48%) was increased in the nut-allergic patients compared to the atopic controls (12. 20% and 3. 66%, respectively) but not when compared to the blood donors (28. 86% and 10. 12%).

HLA-B

atopic


Input: Following TETA treatment, levels of D-amino acid oxidase-1, epoxide hydrolase-1, aquaporin-1, and a number of mitochondrial proteins were normalized, with concomitant amelioration of albuminuria.

D-amino acid oxidase

albuminuria


Input: Epigenetic modification of RhoE expression in gastric cancer cells.

RhoE

gastric cancer


Input: Hence, we aimed at identifying any potential association of CHOP 5' UTR-c. 279T > C and + nt30C > T genotypes and corresponding haplotypes with overweight condition/pre-obesity and tumors/cancer in an Italian dataset.

CHOP

overweight


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

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: These findings suggest the possible role of ADM and SEPX1 as biomarkers of schizophrenia.

schizophrenia

schizophrenia


Input: However, TNF-induced NF-kappaB activation was significantly enhanced in mda-7-transfected cells, as indicated by DNA binding, p65 translocation, and NF-kappaB-dependent reporter gene expression.

TNF

translocation


Input: The TWEAK/Fn14 pathway contributed to cell death and interstitial inflammation during acute kidney injury, to glomerular injury in lupus nephritis, to hyperlipidemia-associated kidney injury, and to tubular cell hyperplasia following unilateral nephrectomy.

TWEAK

hyperlipidemia


Input: Human gastric cancer cells were transfected with miR-34 mimics or infected with the lentiviral miR-34-MIF expression system, and validated by miR-34 reporter assay using Bcl-2 3' UTR reporter.

MIF

gastric cancer


Input: Here we explore the relevance of Cited1 to intestinal tumorigenesis.

tumorigenesis


Input: In vitro assays, our results indicated that knockdown of SPRY4-IT1 reduced renal cancer cell proliferation, migration, and invasion.

renal cancer


Input: Our results were consistent with the hypothesis that BRCA1 and BRCA2 mutations have a limited role in sporadic ovarian carcinogenesis in the Korean population.

sporadic


Input: We tested the relationship of CD64 with mucosal inflammation and clinical relapse in pediatric Crohn' s disease (CD).

mucosal inflammation


Input: Animal studies have shown dopamine transporter protein (DAT1) knock out mice are growth retarded and hyperactive.

growth retarded


Input: These results suggest that the protective effects of hrHGF against neuronal death in the hippocampal CA1 after transient forebrain ischemia could be related to an ERK-dependent pathway.

ischemia


Input: OCT imaging in an asymptomatic 8-year-old individual with the Q293K mutation demonstrated bilateral subfoveal lesions and unilateral serous retinal detachment.

OCT

asymptomatic


Input: Preclinical evaluation of melanin-concentrating hormone receptor 1 antagonism for the treatment of obesity and depression.

melanin-concentrating hormone receptor 1

depression

melanin-concentrating hormone receptor 1

depression


Input: Twenty one cases of apocrine adenosis were stained with monoclonal antibodies to p185, the protein product of the c-erbB2 oncogene, the protein product of the p53 tumour suppressor gene and to the cell cycle related protein Ki67.

adenosis


Input: Associations of TIM1 haplotypes with baseline clinical data (sero-status, plasma viral load, CD4 cell count, and symptomatic AIDS) and survival status during 3 years of follow-up were evaluated.

viral load


Input: Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Rett syndrome

Rett syndrome


Input: Renin is important in blood pressure and volume control and a HindIII restriction fragment length polymorphism (RFLP) is present within the human renin gene locus.

renin gene

blood pressure


Input: The CTL line was shown to be phenotypically stable in terms of high levels of cytokine (IFN-gamma, tumor necrosis factor, and granulocyte-macrophage colony-stimulating factor) production, expression of homing-adhesion molecules, ability to lyse peptide-pulsed targets, and ability to lyse human carcinoma cells endogenously expressing CEA in a MHC-restricted manner.

CEA

adhesion


Input: The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053).

MIM

autism


Input: The study was aimed to explore the effects of tumor necrosis factor-& #945; (TNF-& #945;) induced protein 6 (TSG-6) on acute lung injury (ALI) following paraquat exposure in rats.

acute lung injury

acute lung injury


Input: With the advent of powerful screening techniques, TTR has also been linked to a number of other pathological conditions, including Parkinson' s disease, schizophrenia, depression, among others.

TTR

depression

TTR

depression


Input: In order to gain understanding of the cellular mechanisms of malignant transformation in chronic venous leg ulcers, we analysed by immunohistochemistry the presence of p21, p53, bcl-2 and Ki-67 in ulcers with and without squamous cell carcinoma.

ulcers


Input: There are some indications that a beneficial effect can be found as a less severe course of viral infections among B27-carriers.

viral infections


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

psychosis

psychosis


Input: Previous findings replicated among white participants in multivariable adjusted models: the T-allele of rs780094 was associated with lower fasting glucose (p = 10 (-7)) and insulin levels (p = 10 (-6)), lower insulin resistance (HOMA-IR, p = 10 (-9)), less prevalent diabetes (p = 10 (-6)), and higher CRP (p = 10 (-8)), 2-h postprandial glucose (OGTT, p = 10 (-6)), and triglyceride levels (p = 10 (-31)).

CRP

insulin resistance


Input: Polymorphisms in CARD8 and TIMP2 are proposed to modify the development and/or calcification of pleural thickenings.

calcification

calcification


Input: Immunohistochemistry showed significant increase of GATA-3 expression in the nasal tissue of group B but much lesser than that in group C. IFN-gamma can inhibit the composition of IL-4 and IL-5, and inhibit the airway inflammation with eosinophilic infiltration and the serum levels of total IgE and ovalbumin specific IgE, probably through the mechanism of restraining the Th2 reaction by blockade of GATA-3 expression in the nasal tissue.

inflammation


Input: In HER-2-negative patients, Ki67 was reduced by 62 and 71% at 2 and 12 weeks, respectively (P < 0. 0001 for both), but HER-2-positive patients showed no significant fall.

fall


Input: We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in DHFR, resulting in profound enzyme deficiency.

DHFR

pancytopenia

DHFR

pancytopenia


Input: BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

breast cancer

breast cancer


Input: Many sporadic PD patients have a defect in mitochondria respiration, and some of the genes that cause PD are mitochondrial-related (e. g., PINK1, Parkin, DJ1).

sporadic


Input: Coagulation factor VII (FVII) levels in plasma are usually related to ischemic heart disease (IHD) and cerebral infarction shares many of the risk factors related to IHD.

factor VII

ischemic heart disease


Input: To investigate the effects of lithium (Li) and prostaglandin A1 (PGA1) on the expression of heat shock factor 1 (HSF-1), heat shock proteins (HSP), and apoptosis protease activating factor-1 (Apaf-1) induced by permanent focal ischemia in rats.

shock


Input: Although the SRC family members are likely to play a role in the response of fibroid SMC to estrogen, via ERalpha, changes in their levels do not appear to contribute to the increased sensitivity of fibroid SMC to estrogen.

SMC

fibroid


Input: On fresh leukemic cells taken from 30 patients with acute promyelocytic leukemia (APL) the membrane expression of a series of adhesion molecules including beta 2 integrins (CD11a/LFA-1, CD11b/Mac-1), selectin ligands (CD15/Le (x), CD15s/sLex) and tyrosine-phosphatase isoforms (CD45RA, CD45R0) was analyzed.

adhesion


Input: Transgenic mice expressing either wild-type or inactive ADAR2 isoforms demonstrated adult onset obesity characterized by hyperglycemia, hyperleptinemia, and increased adiposity.

hyperglycemia


Input: Single nucleotide polymorphisms (SNPs) in the genes encoding interferon response factor (IRF)-5, IRF-8 and glypican-5 (GPC5) have been associated with disease activity in multiple sclerosis (MS) patients treated with interferon (IFN)-β.

IRF

multiple sclerosis


Input: We further showed that knockdown of Dnmt1 and restoration of SFRP1 inhibited core-induced in vivo tumor growth and aggressiveness in a xenograft HCC model.

HCC

aggressiveness


Input: These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy.

monomelic amyotrophy

monomelic amyotrophy


Input: APOE haplotypes influence bone mineral density in Caucasian males but not females.

APOE

bone mineral density


Input: The combination of RSV with pharmacological inhibitor of VEGF-B might, therefore, be a promising modality for clinical pancreatic cancer therapy.

VEGF-B

pancreatic cancer

VEGF-B

pancreatic cancer


Input: MYH7 gene studies revealed the 5533C & gt; T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.

myosin storage myopathy

myosin storage myopathy


Input: We have previously identified Urokinase Plasminogen Activator Receptor (PLAUR) as an asthma susceptibility gene.

PLAUR

asthma susceptibility


Input: We examined the sequential expression of hyperplasia, micronucleated cells, ornithine decarboxylase (ODC) activity, polyamine levels, transglutaminase I activity, epidermal growth factor receptor (EGF-R) levels, keratins, gamma-glutamyltranspeptidase (GGT), transforming growth factor-beta 1 (TGF-beta 1), leukoplakia, and carcinomas induced during carcinogenesis.

ODC

leukoplakia


Input: A linkage disequilibrium between TNF2 allele and HLA-DR3 was seen, this haplotype was not associated with severity of acute pancreatitis or outcome of septic shock in ASP patients.

ASP

septic shock


Input: We have investigated the role of myosin II in glioma motility and invasiveness by examining the effects of two inhibitors of myosin light chain kinase, ML7 and KT5926.

myosin light chain kinase

glioma

myosin light chain kinase

glioma


Input: In conclusion, there is a high prevalence, mostly asymptomatic, of cardiac disease (26%) among first-and second-degree family members of patients with NCC.

NCC

asymptomatic


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: ACE gene, ATIR gene and inflammation factors including tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), IL-8, IL-10, C reactive protein (CRP), fibrinogen (Fg), fibrin monome polymerized velocity (FMPV), absorbance maximum (A (max)), FMPV/A (max), were measured.

fibrinogen


Input: No significant differences between familial and sporadic cases were found within the MHC region (including the following loci: HLA-DQ,-DR, heat shock protein (HSP) 70, tumour necrosis factor (TNF), HLA-B and-A).

TNF

sporadic


Input: While many studies have addressed the atherogenic or anti-atherogenic potential of this polymorphism, little is known about its effect on neurodegeneration, despite the fact that CETP is expressed in the brain and the disturbance of cholesterol homeostasis appears to be an important factor in the pathogenesis of Alzheimer' s disease (AD).

CETP

neurodegeneration


Input: We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD.

CCD

CCD


Input: Metastatic spread of Erbb2-transformed carcinoma cells also required CD4 (+) CD25 (+) T cells, whose major pro-metastatic function was RANKL production.

carcinoma


Input: No association with growth was found with a polymorphism of the PTH receptor gene otherwise found to be associated with adult height.

PTH receptor

height


Input: In this report, we present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated pontocerebellar hypoplasia, cortical dysplasia, mental retardation, and bipedal gait.

very low density lipoprotein receptor

cortical dysplasia


Input: The 4th gene, tyrosinase, has been previously linked to schizophrenia through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees.

tyrosinase

psychosis

tyrosinase

psychosis


Input: Stratified by gender, the associations of S447X polymorphism with the serum lipids (TG, HDL), blood pressures (SBP, DBP) and their abnormalities were analyzed by univariate and multivariate methods.

DBP

abnormalities


Input: Detection of TIAM1 expression in tumor samples from 56 OSCC patients and oral mucosa samples from 20 healthy people was performed by immunohistochemistry.

OSCC

OSCC


Input: Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.

nuclear mitotic apparatus protein

acute promyelocytic leukaemia

nuclear mitotic apparatus protein

acute promyelocytic leukaemia


Input: However, atopic asthmatic patients who were homozygous GG for the RANTES-28C > G tended to have lower PC20 methacholine than those carrying the wild genotype.

RANTES

atopic


Input: The mutant OX40 protein was poorly expressed on the cell surface and failed to bind OX40L, resulting in complete functional OX40 deficiency.

OX40 deficiency

OX40 deficiency


Input: The expression of cdc2, cdk2, cyclin B1 and cyclin A polypeptides was detectable in all lines examined, and moderate variation in protein level does not provide evidence for any obvious abnormalities in the cancer cell lines studied.

abnormalities


Input: The Ewing sarcoma family of tumors (ESFT) is defined by cell surface expression of CD99 and a translocation involving EWS and an ETS partner.

EWS

translocation


Input: TRPV1, a well-established member of the TRP family, is implicated in a range of functions including inflammation, painful stimuli sensation, and mechanotransduction.

TRP

inflammation


Input: The authors have screened 17 exons of the NF2 gene in 91 sporadic vestibular schwannomas, 2 NF2, and 1 vagal schwannoma.

NF2 gene

sporadic


Input: To conduct a full genome search for genes potentially influencing two related phenotypes: body mass index (BMI, kg/m2) and percent body fat (PBF) from bioelectric impedance in men and women.

PBF

body mass index


Input: In the literature, five other patients developed APL after treatment for lymphoma, from a total of 59 patients developing sAPL after treatment for any type of neoplasia.

sAPL

lymphoma


Input: Fluorescence in situ hybridization analysis with a probe for the NUP98 gene, which is located at chromosome band 11p15, showed that the probe hybridized to both derivative chromosomes 11 and 20 as well as to the remaining normal chromosome 11, indicating that the NUP98 gene was split and involved in this translocation.

NUP98 gene

translocation


Input: Treatment of HCMEC with IL-18 increases 1) NF-kappaB DNA binding activity; 2) induces kappaB-driven luciferase activity; 3) induces IL-1beta and TNF-alpha expression via NF-kappaB activation; 4) inhibits antiapoptotic Bcl-2 and Bcl-X (L); 5) up-regulates proapoptotic Fas, Fas-L, and Bcl-X (S) expression; 6) induces fas and Fas-L promoter activities via NF-kappaB activation; 7) activates caspases-8,-3,-9, and BID; 8) induces cytochrome c release into the cytoplasm; 9) inhibits FLIP; and 10) induces HCME cell death by apoptosis as seen by increased annexin V staining and increased levels of mono-and oligonucleosomal fragmented DNA.

BID

mono


Input: Studies suggest that long-term therapy reduces the risk of HCC in patients with active disease and again primarily in those with advanced fibrosis or cirrhosis.

HCC

fibrosis


Input: We sought to determine the altered gene expression profile of this category in dilated cardiomyopathy (DCM) patients and relate the altered gene expression with the clinical signs present in our patients, such as ventricular dysfunction and sustained monomorphic ventricular tachycardia (SMVT).

SMVT

ventricular dysfunction


Input: Lanoteplase plasma clearance averaged 3 L/h (50 ml/min), whereas the mean plasma clearance of approximately 24 L/h (400 ml/min) for alteplase approaches hepatic blood flow following acute myocardial infarction.

alteplase

myocardial infarction

alteplase

myocardial infarction


Input: U2AF1 mutation could also predict shorter time-to-leukemia transformation (TTL) in younger patients (P = 0. 020).

TTL

leukemia


Input: Further studies in various human cancer tissues using a large sample size and in vitro functional studies as well as clinical comparison research studies would give us a better evaluation of TESTIN' s role and its possible future application in molecular diagnosis and treatment of different cancer types, including head and neck squamous cell carcinoma.

TESTIN' s

head and neck squamous cell carcinoma


Input: The expression of human vaspin (serpinA12) is positively correlated to body mass index and insulin sensitivity and increases glucose tolerance in vivo, suggesting a compensatory role in response to diminished insulin signaling in obesity.

body mass index


Input: Vascular endothelial growth factor (VEGF) is a candidate susceptibility gene to inflammatory bowel disease (IBD), both from a functional as well as genetic perspective.

VEGF

bowel disease


Input: Features not present in classical HCS were a mild/moderate mental retardation and a respiratory chain complex IV deficiency documented in patient 2.

HCS

mild


Input: Ninety-nine patients with HS, 182 patients with IS (symptomatic control subjects), and 80 asymptomatic control subjects were genotyped for the ACT polymorphism using polymerase chain reaction amplification.

ACT

asymptomatic


Input: Therefore, it is possible that the early-onset form of retinal degeneration seen in LCA patients with AIPL1 mutations may be due to a defect in the regulation of cell cycle progression during photoreceptor maturation.

retinal degeneration


Input: In vitro, TNFα treatment of nasopharyngeal carcinoma HK1 cells was found to induce TNFAIP2 expression, and siRNA-based knockdown of TNFAIP2 dramatically reduced the migration and invasion of nasopharyngeal carcinoma HK1 cells.

nasopharyngeal carcinoma


Input: Indoleamine 2, 3-dioxygenase, tryptophan catabolism, and Mycobacterium avium subsp. paratuberculosis: a model for chronic mycobacterial infections.

Indoleamine 2, 3-dioxygenase

mycobacterial infections


Input: Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3 & #183; 29, 1 & #183; 47-7 & #183; 37, 5 & #183; 40 & #215; 10 (-3)) and rs3887412 in ABCC1 (3 & #183; 36, 1 & #183; 47-7 & #183; 67, p = 5 & #183; 70 & #215; 10 (-3)).

peripheral neuropathy

peripheral neuropathy


Input: Catalase protects cardiomyocyte function in models of type 1 and type 2 diabetes.

Catalase

type 2 diabetes

Catalase

type 2 diabetes


Input: The variant translocation t (12; 22) (q13; q12) and associated EWS-CHOP fusion transcript are rare.

EWS

translocation


Input: UNG2 is also involved in innate immune response against retroviral infections.

infections


Input: The variables included age, gender, CFTR mutations, FEV1% predicted, FVC% predicted, height, weight, Brasfield chest xray score, pancreatic sufficiency status and clinical microbiology results.

CFTR

height


Input: Importantly, exposure of fibroblasts to stress factors such as acidosis or hypoxia markedly upregulated SLC19A3 in control cells, but failed to elevate SLC19A3 expression in the patient' s fibroblasts.

acidosis


Input: The cytoplasmic cyclin E signal may be attributed, in part, to the presence of truncated low-molecular-weight isoforms of cyclin E. In order to isolate the effect of cyclin E on the appearance of centrosome abnormalities, a U2OS tetracycline-repressible cyclin E cell line that has a normal centrosome profile by default was used.

cyclin E

weight


Input: Dufaston therapy of glandular cystic hyperplasia and zoladex therapy of adenomatous hyperplasia normalized expression of Fas receptor, PCNA, and insulin-like growth factor 1 genes, while the expression of IFN-gamma and IL-6 genes, which was normal in hyperplasia, decreased (p < 0. 05).

IFN

hyperplasia


Input: Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS).

CBS

olivopontocerebellar degeneration


Input: Taken together, these data provide support for an expanded role of SHBG in the pathophysiology of insulin resistance and T2DM.

SHBG

insulin resistance


Input: Association results in humans indicate pleiotropic effects for SNPs within or surrounding CNTN4 on obesity, lipids and blood pressure traits and for SNPs near IL5RA, TRNT1, CRBN, and LRRN1 on central obesity and blood pressure.

blood pressure


Input: Supershift assays suggest that this binding is due to AP-1 nuclear factors and that members of the jun family are induced to a greater degree than fos by hypoxia.

hypoxia


Input: These observations may support a genotype-phenotype correlation in HOS patients with TBX5 mutation.

HOS

HOS


Input: Cyclin A1 mRNA was detectable in 11 of 11 patients with acute myeloid leukemia, three of three patients with acute biphenotypic leukemia, eight of eight patients with myelodysplastic syndrome, 59 of 69 patients with chronic myelogenous leukemia (CML) at diagnosis, 13 of 15 patients with CML in blastic transformation, 10 of 18 patients with chronic lymphocytic leukemia, two of nine patients with essential thrombocythemia, and only two of 10 patients with acute lymphoblastic leukemia (ALL) with both cyclin A1 RT-PCR positive ALL leukemias being undifferentiated relapses.

cyclin A1

essential thrombocythemia


Input: AIM: To obtain new insights regarding the expression differences of these factors and their relationship and to investigate the correlation between gender and clinical features in patients with prolactinoma.

AIM

prolactinoma


Input: However, among all cases, we found that individuals inheriting a variant NAT1 allele, NAT1 * 10, have a significantly elevated risk for gastric cancer (OR = 2. 2, 95% CI 1.

gastric cancer


Input: To evaluate main effects and gene-gene interactions of haplotype tagging single nucleotide polymorphisms of genes involved in regulatory T-cell function-IL6, IL6R, IL10, heme-oxygenase 1 (HMOX1), IL2, Toll-like receptor 2 (TLR2), TGFB1, TGF-beta receptor (TGFBR)-1, TGFBR2, IL2RA, and forkhead box protein 3 (FOXP3)-in relation to atopy and asthma.

atopy


Input: Our report supports the idea that EPG5-related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. & #169; 2017 Wiley Periodicals, Inc.

Vici syndrome

Vici syndrome


Input: To examine the involvement of DcR3 in the immune evasions of virus-associated lymphoma, we analyzed the amplification and expression of DcR3, using dot blot and in situ hybridization (ISH), in 45 cases, which included 17 cases with Epstein-Barr virus (EBV)-associated lymphoma (seven pyothorax-associated B-cell lymphomas (PAL); ten natural killer lymphoma (NKL)), seven cases with adult T-cell leukemia lymphoma (ATLL), 13 Hodgkin' s disease (eight EBV-associated cases; five non-EBV-associated cases), and eight control cases (three reactive lymphadenopathy; five non-EBV-associated-B-cell lymphoma).

PAL

lymphoma


Input: PAR-2 deficiency was found to modulate articular inflammation in murine models of arthritis that require prior immunization and was associated with reduced levels of anti-mBSA IgG and lymph node cell proliferation in AIA.

PAR

arthritis


Input: BDGI overexpression inhibits the proliferation, decreases anchorage-dependent growth, and reduces migration of MCF-7 human breast cancer cells, whereas down-regulation of BDGI expression promotes the proliferation of MCF-7 and HeLa cervix epitheloid carcinoma cells.

BDGI

carcinoma


Input: Four weeks after an injection of STZ, the renal 11beta-HSD2 and mRNA levels were significantly lower in diabetic rats than in control rats, and the mean systolic blood pressure was 14. 8% higher in diabetic rats than in controls.

STZ

systolic blood pressure


Input: A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Molecular genetic deletion experiments for the azoospermia factor region in distal Yq11 showed the retention of the DAZ gene and meiotic pairing configurations suggested that the man' s infertility could be due to the pairing behaviour of the Y; 6 translocation chromosome with the X chromosome visualised by synaptonemal complex analysis at the electron microscopy level.

DAZ

infertility


Input: PRRT2 mutations account for 61. 5% (8 out of 13) of familial PKD/IC and 33. 3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort.

sporadic


Input: SRS children who carry such an epimutation have increased levels of IGF-I and IGFBP-3 in relation to their stature and body weight, suggesting IGF-I resistance.

IGF-I

body weight


Input: We have characterized a novel calpastatin-overexpressing transgenic mouse model, demonstrating a substantial increase in calpastatin expression within nervous system and peripheral tissues and associated reduction in protease activity.

calpastatin

nervous system


Input: Evolving expression of adhesion molecules and cytokines indicates a shift from Th1 to Th2 immune responses as infection progresses.

adhesion


Input: When we screened for deletions on the Yq of males suffering from infertility, we found that HSFY was involved in interstitial deletions on the Y chromosomes for two azoospermic males who had DBY, USP9Y, and DAZ but did not have RBMY located on the AZFb.

DAZ

infertility


Input: Results of this year' s investigations further elucidated the genetic associations of tropical pancreatitis, a reversible mislocalization of ductal CFTR in AIP, the association of asymptomatic pancreatic hyperenzymemia with pancreatic disorders, limitations of diagnostic tests for EPI, diagnosis of chronic pancreatitis by EUS and endoscopic pancreatic function testing and treatment of pain.

CFTR

asymptomatic


Input: On a standard diet, Mpv17-/-mouse shows hardly any symptom of liver dysfunction, but a ketogenic diet (KD) leads these animals to liver cirrhosis and failure.

liver dysfunction


Input: Risks for venous thromboembolism in genetically affected persons are substantially higher among patients with coexistent predispositions for thrombosis, such as advanced age, use of oral contraceptives, hyperhomocystinemia, and deficiencies of protein C and protein S. Factor V Leiden mutation does not seem to increase risks for arterial thrombosis.

protein C

hyperhomocystinemia


Input: This is the first report of a pedigree in which 4 asymptomatic members carry the E383K substitution in NOD2, as well as the first observation of an asymptomatic carrier state for any of the NOD2 " Blau mutations. "

asymptomatic


Input: Affected individuals presented with muscle weakness and/or paresthesia and showed hypocalcemia, hyperphosphatemia, and elevated serum PTH.

PTH

paresthesia


Input: The loss of active Pin1 leads to the accumulation of abnormal tau and the overproduction of β-amyloid, the cardinal features of Alzheimer' s disease.

amyloid


Input: Sequencing of the human lumican and fibromodulin genes has excluded them as candidate genes for MYP3 associated high grade myopia.

fibromodulin

myopia


Input: Inhibition of the NF-kappaB signaling pathway significantly attenuated the increases in IkappaBalpha and bdnf mRNA levels that occurred during prolonged seizure activity, suggesting that the NF-kappaB pathway was involved in the up-regulation of these transcripts during status epilepticus.

NF-kappaB

status epilepticus


Input: Irrespective of PCOS, variant alleles of TLR2 S450S increased triglycerides, fasting insulin levels, and insulin resistance in obese women.

insulin resistance


Input: Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre-and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies.

SGB

facies


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

mechanical hyperalgesia

mechanical hyperalgesia


Input: Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants.

oropharyngeal cancer


Input: GRPR-KO mice were found to present with increased depression-like behavior.

GRPR

depression

GRPR

depression


Input: Furthermore, we observed an interesting correlation between Na (+), K (+)-ATPase activity and mood that may relate to both unipolar depression and bipolar disorder.

ATPase

bipolar disorder

ATPase

bipolar disorder


Input: And in consideration of the key role of B10 cells play in maintaining peripheral tolerance, we conjectured that a deficit of these cells could contribute to the autoimmunity in patients with Wiskott-Aldrich syndrome (WAS).

autoimmunity


Input: Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

Pfeiffer syndrome

Pfeiffer syndrome


Input: Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study.

FGGY

sporadic


Input: HLA-DQ alpha and HLA-DX alpha gene polymorphisms were analyzed by Southern blot techniques in 78 Caucasoid insulin-dependent diabetes mellitus (IDDM) subjects and 55 control subjects.

alpha gene

insulin-dependent diabetes mellitus


Input: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene.

ARC) syndrome

ARC) syndrome


Input: ERM samples were obtained by vitrectomy from 22 cases with PDR aged 56 +/-11 years with 18 +/-10 years of diabetes and 15 cases with idiopathic ERM.

ERM

diabetes


Input: Despite the mutant TLR-4 predisposition for UC pancolitis, smoking was associated with more limited disease (P < 0. 001).

smoking


Input: CIG was intragastrically administered daily after EAE initiation for 20days and reduced disease severity, incidence, disease onset and ongoing paralysis.

CIG

paralysis


Input: The findings of this study show that copper, hydrogen peroxide, and lipid peroxides accumulate to drastically high levels in LEC rat serum in acute hepatitis but not chronic hepatitis.

LEC

acute hepatitis


Input: We found synergistic and cumulative effects between specific genotype patterns and smoking in determining the risk of CAD, especially between PAI-1 (4G5G + 5G5G) + IL-6 (CC) and smoking (SIM = 4. 18 and p = 0. 0005, OR = 9. 20, respectively).

smoking


Input: CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.

PXR

obesity

PXR

obesity


Input: The natural history of hereditary and BRCA1-and BRCA2-associated epithelial ovarian cancer may differ from that of sporadic disease.

sporadic


Input: Ten genes [macrophage inhibitory cytokine-1, CGD, fibronectin (FN), hypoxia-inducible factor 1, Fc-epsilon-receptor gamma-chain, lactate dehydrogenase A, HLA-DBP1, AH receptor, tissue inhibitor of metalloproteinase (TIMP-1), and glycyl-tRNA-synthetase] were found to be up-regulated > 2-fold in 40-100% of cancers, whereas 9 genes (GADD153, polykystic kidney disease-1, CYR61, DPC4, HBA1, gravin, DLG3, protein tyrosine phosphatase sigma, and heterochromatin protein 1 homologue-alpha) were down-regulated to < 50% of their normal levels in 40-94% of cases.

cancers


Input: Here, we demonstrate that a major cause of high c-Jun abundance in invasive breast cancer cells is prolonged c-Jun protein stability owing to poor poly-ubiquitination of c-Jun.

c-Jun

invasive breast cancer


Input: Over-excretion of angiotensin I converting enzyme (ACE) and aldosterone is reported to stimulate intimal hyperplasia and the genetic effect of these molecules may alter the process of in-stent restenosis.

ACE

intimal hyperplasia


Input: A comparison of the laboratory features of JAK2 V617-positive and JAK2 wild-type ET patients clearly showed that JAK2 V617-positive ET is characterized by higher values for hemoglobin, hematocrit, and neutrophil counts; lower values for serum erythropoietin (EPO) levels, serum ferritin, and mean corpuscular volume; and by increased cellularity of the bone marrow in biopsy material.

hemoglobin


Input: Protective role of Mincle in bacterial pneumonia by regulation of neutrophil mediated phagocytosis and extracellular trap formation.

Mincle

bacterial pneumonia


Input: The aims of this study were 1) to evaluate whether the duration of obesity is a risk factor for type 2 DM, HT and HL, 2) to determine the incidence of impaired fasting glucose (IFG), impaired glucose tolerance (IGT), type 2 DM, HT and HL in the patients attending our clinic because of obesity and 3) to determine the correlation between DM, HT and HL and age, body mass index (BMI), duration of obesity and waist-hip ratio (WHR).

IFG

body mass index


Input: Also, when we compare the FEP patients after risperidone treatment with controls, this difference remains significant, and no significant differences were observed in GCH1 mRNA levels when comparing patients before and after risperidone treatment.

FEP

FEP


Input: Thrombophilic risk factors analyzed were hyperhomocysteinemia, MTHFR gene mutation, factor V Leiden mutation, protein C and S deficiency, antithrombin deficiency, prothrombin gene mutation, anticardiolipin antibodies and lupus anticoagulant.

MTHFR gene

lupus anticoagulant


Input: Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

rhodopsin

Retinitis punctata albescens

rhodopsin

Retinitis punctata albescens


Input: We hypothesize that LR11 loss may be specific to sporadic AD and influence amyloid pathology through mechanisms independent of substrate-enzyme interactions regulated by FAD mutations.

FAD

sporadic


Input: Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms.

smoking


Input: Expression and mechanism of PinX1 and telomerase activity in the carcinogenesis of esophageal epithelial cells.

esophageal


Input: In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).

dermatitis

dermatitis


Input: Overexpression of cyclin E in breast tumors is associated with a poor response to tamoxifen therapy, greater genomic instability, more aggressive behavior, and a poor clinical prognosis.

cyclin E

genomic instability


Input: Basic and clinical research has demonstrated that dementia of sporadic Alzheimer' s disease (sAD) type is associated with dysfunction of the insulin-receptor (IR) system followed by decreased glucose transport via glucose transporter GLUT4 and decreased glucose metabolism in brain cells.

dementia

dementia


Input: Our work provides a new insight that BACE1 overexpression not only promotes neuritic plaque formation but may also potentiate neurodegeneration mediated by SET elevation in Alzheimer-associated dementia in DS.

SET

neuritic plaque


Input: CSNK1e had previously been implicated in the regulation of developmental pathways and circadian rhythms, whereas our data provide a previously unknown link with oncogenic MYC.

MYC

circadian rhythms


Input: Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous.

COX

neuromuscular disorders


Input: ET-1-induced MIP-1β promoter luciferase activity was attenuated when any of the five hypoxia-response elements, AP-1, or NF-κB binding motifs in the proximal MIP-1β promoter (-1053/+ 43 bp) were mutated.

hypoxia


Input: The tumor cells of malignant histiocytosis generally expressed the monocyte markers CD11b, CD11c, CD14, and CD45, especially after induction with phorbol ester.

malignant histiocytosis


Input: We looked at 4 patients with severe and unusual infections in whom MBP gene mutations were the only identified cause of immunodeficiency and one patient with combined MBP and IgA deficiency.

MBP

immunodeficiency


Input: Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

desmoplakin

Severe dermatitis, multiple allergies, and metabolic wasting syndrome

desmoplakin

Severe dermatitis, multiple allergies, and metabolic wasting syndrome


Input: Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.

GNAS

pseudohypoparathyroidism type Ia

GNAS

pseudohypoparathyroidism type Ia


Input: Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

TKT

Short Stature, Developmental Delay, and Congenital Heart Defects

TKT

Short Stature, Developmental Delay, and Congenital Heart Defects


Input: Protein C, protein S, antithrombin, D-dimer, fibrinogen, homocysteine, anticardiolipin antibodies (aCL), lupus anticoagulant (LAC), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation were evaluated.

MTHFR

lupus anticoagulant


Input: HCS, a relatively mild syndrome, is characterised by cystinuria type I, generalised hypotonia at birth, growth retardation and minor facial dysmorphic features.

HCS

mild


Input: Our results suggest that TLR2 expression might be involved in sporadic colorectal carcinogenesis, whereas TLR4 is not.

sporadic


Input: The potential role of transcription factor aryl hydrocarbon receptor in downregulation of hepatic cytochrome P-450 during sepsis.

aryl hydrocarbon receptor

sepsis


Input: On electron microscopy, thickness of the glomerular basement membrane (BGM) was found to distinguish benign familial hematuria (BFH-10 cases) from non familial idiopathic recurrent hematuria (IRH-9 cases).

BGM

benign familial hematuria


Input: TRIM37del2 was also found in normal ovary but in a proportion of sporadic fibrothecomas, the TRIM37del2: TRIM37 ratio was increased.

sporadic


Input: Anti-inflammation treatment restored p21 expression, delayed tumorigenesis, and increased survival of Tgfbr2 (fspKO) mice.

tumorigenesis


Input: SH2B3 (LNK) mutations from myeloproliferative neoplasms patients have mild loss of function against wild type JAK2 and JAK2 V617F.

LNK

mild


Input: Apart from HLA-DQA1 * 0201, which was less common in patients with colonic carcinoma than controls, no other HLA-DQA1 and no HLA-DQB1 allele were present at altered frequency in patients with gastric or colonic cancer.

colonic cancer


Input: We used a PCR/silver stain method to determine whether triplet-repeat instability (TRI) was present in DNA from malignant breast tumors, and analyzed microsatellite instability (MSI) in triplets SCA1, SCA2, SCA3, SCA6, HD, DRPLA and X25-GAA.

GAA

microsatellite instability


Input: The intriguing finding was that the HCC in the patient was positively stained for chromogranin A (CgA), a cellular marker for endocrine and neuroendocrine tumors.

HCC

neuroendocrine tumors


Input: Results of the study are compatible with the majority of previous studies that indicate little or no association of NAT2, smoking, or their interaction with the occurrence of breast cancer.

smoking


Input: Together, these observations prompted us to investigate whether dopamine can regulate PIMT expression in SH-SY5Y neuroblastoma cells.

PIMT

neuroblastoma


Input: Quantitative MRI measurements indicated that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue.

MRI

heterotopic tissue


Input: Two SAGE cDNA libraries were constructed, one using a pool of mRNA obtained from five GH-secreting pituitary tumors and another from three normal pituitaries.

SAGE

pituitary tumors


Input: However, the role of IRG1 in tumorigenesis remains unclear.

tumorigenesis


Input: Among ACL antibody positive recurrent miscarriage patients, significantly more were positive for the HLA-DR3 phenotype and negative for the HLA-DR2 phenotypes compared with healthy controls (P < 0. 05).

ACL

recurrent miscarriage


Input: These findings suggest an indirect pathway for Bcl-2 over-expression in PhIP-induced colon tumors involving beta-catenin, c-Myc and E2F1.

colon tumors

colon tumors


Input: Increasing evidence supports a link between expressions of CD4, CD25, Foxp3, and CXCL13 in thymic hyperplasia with myasthenia gravis (MG) patients.

thymic hyperplasia


Input: The new ARID genes include nine with loss-of-function mutations (ABI2, MAPK8, MPDZ, PIDD1, SLAIN1, TBC1D23, TRAPPC6B, UBA7 and USP44), and missense mutations include the first reports of variants in BDNF or TET1 associated with ID.

ID

ID


Input: The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and spasticity, but little evidence of cerebellar disease.

ADCA

dystonia


Input: We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients.

cystinuria

cystinuria


Input: Nucleobindin 2 (NUCB2) has been reported to play an important role in both tumorigenesis and cancer progression.

tumorigenesis


Input: The present study examined GAT-1-immunolabeling in infant rats with two types of developmental seizures, one induced by corticotropin-releasing hormone (CRH) lasting about 2 h and the other by hyperthermia (a model of febrile seizures) lasting only 20 min.

GAT

seizures


Input: We therefore further compared the antithrombotic (Benefit: dose required for 50% inhibition of fibrinogen decrease: ED50) and hemorrhagic (Risk: minimum dose required for significant prolongation of bleeding time) effects of MR-33 and LMW-heparin in the thromboplastin-induced DIC model.

thromboplastin

DIC

thromboplastin

DIC


Input: Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently discovered primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3-and TLR4-interferon (IFN)-alpha/beta pathways.

IFN

primary immunodeficiency


Input: Loss of H19 imprinting in esophageal cancer.

esophageal cancer


Input: Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) +/-mice develop a number of different cancers, including prostate cancer.

tensin

cancers


Input: In searching for androgen-responsive genes in human prostate cancer cells, we have isolated two cDNAs that encode alternate forms of a novel Src homology 3 domain-containing guanine nucleotide exchange factor (SGEF).

SGEF

prostate cancer