Input: Clusterin (CLU) is a ubiquitous multifunctional factor involved in neoplastic transformation.

CLU

neoplastic transformation


Input: We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II).

Loeys-Dietz syndrome

Loeys-Dietz syndrome


Input: Retinal vascularization was investigated in flatmount preparations after concanavalin A labeling of endothelial cells on days P6, P14, P17, and P20.

vascularization


Input: Simultaneous staining for CD62E and FISH analysis showed that cells with endothelial characteristics belonged to the leukemia.

FISH

leukemia


Input: Under hypoxia, retinal pigment epithelial (RPE) cells can secret more transforming growth factor-β2 (TGF-β2), which is determined to induce epithelial-mesenchymal transition (EMT) at certain concentrations.

RPE

hypoxia


Input: The connection between polyQ expansion in Htt (exp) and MSN neurodegeneration remains elusive.

MSN

neurodegeneration


Input: It is also well-established that during the latter stages of HIV-1 infection, an increase in the production and nuclear export of unspliced viral mRNA is indispensible for efficient HIV-1 replication and that the presence of ASF/SF2 leads to excessive viral pre-mRNA splicing and a reduction of unspliced mRNA, while the presence of SRp55 inhibits viral pre-mRNA splicing and aids in the generation and translation of unspliced HIV-1 mRNAs.

aids


Input: This translocation results in rearrangements of the SYT gene in 18q11 and one of the SSX1, SSX2, or SSX4 genes in Xp11, creating a SYT/SSX1, SYT/SSX2, or SYT/SSX4 chimeric gene.

translocation


Input: Most patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985), causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD.

MCAD

MCAD deficiency

MCAD

MCAD deficiency


Input: In the present study, we show that each of these transcription factors is robustly expressed in adult dopamine neurons in human midbrain, and that cocaine abuse is associated with a significant decrease in the abundance of Nurr1 and Pitx3 in these cells.

cocaine abuse

cocaine abuse


Input: We also demonstrated that Pyk2 plays a crucial role in ROS generation during hypoxic stress and that this Pyk2-dependent generation of ROS is necessary for the activation of hypoxia-inducible factor-1α, a key molecule in the pathogenesis of hypoxia-induced PH.

hypoxia


Input: We investigated the prevalence of common polymorphisms that have been associated with diseases, such as atherosclerosis (ALOX5), hypertension (CYP3A5, AGT, GNB3), diabetes (CAPN10, TCF7L2, PTPN22), prostate cancer (DG8S737, rs1447295), Hirschsprung disease (RET), and age-related macular degeneration (CFH, LOC387715).

age-related macular degeneration


Input: Furthermore, gene expression analyses established the ability of DKK2 to differentially regulate genes such as CXCR4, PTHrP, RUNX2, and TGFβ1 that are associated with homing, invasion, and growth of cancer cells in bone tissue as well as genes important for osteolysis, including HIF1α, JAG1, IL6, and VEGF.

VEGF

osteolysis


Input: While investigating the above finding, we found that expression of CYP26A1, a major retinoic acid catabolic enzyme, was up-regulated in Apc (MIN) mouse adenomas, human FAP adenomas, human sporadic colon carcinomas, and in the intestine of apc (mcr) mutant zebrafish embryos.

sporadic


Input: The GLI2 coding region of patients with isolated GH deficiency (IGHD) or combined pituitary hormone deficiency was amplified by PCR using intronic primers and sequenced.

pituitary hormone deficiency


Input: This adhesion mechanism of DPPIV is mediated by immobilized and soluble fibronectin.

DPPIV

adhesion


Input: We present a hypertensive child with a co-existence of polyarteritis nodosa, anti-phospholipid antibodies (aPL), methylenetetrahydrofolate reductase (MTHFR) mutation and increased lipoprotein a level.

MTHFR

polyarteritis nodosa


Input: The A----T mutation in codon 61 (AAG----TAG) resulted in the creation of a stop codon and thus in beta (0)-thalassemia.

TAG

thalassemia


Input: Loss of LKB1 expression reduces the latency of ErbB2-mediated mammary gland tumorigenesis, promoting changes in metabolic pathways.

tumorigenesis


Input: The results suggest an altered ECM turnover in the endometrium of patients with fertility disorders prior to implantation.

ECM

fertility disorders


Input: The specificity of CK7 and CK20 (CK7/20) expression patterns in patients with IM-associated gastric adenocarcinoma, which is distinct epidemiologically from BE/Barrett adenocarcinoma, has not been evaluated.

gastric adenocarcinoma


Input: The present study showed that, in a panel of myeloid leukaemia cell lines, basal level of SPHK1 correlated with the degree of kinase inhibition by SKI.

SKI

myeloid leukaemia


Input: In this study, we investigated the DNA sequences of BCKDHA, BCKDHB and DBT genes for mutations in a Chinese newborn with the classic form of MSUD and predicted the associated conformational changes using molecular modeling.

BCKDHB

MSUD

BCKDHB

MSUD


Input: The association of pemphigus vulgaris with the HLA serotypes, DR4 and DRw6, and with the DQ-beta chain alleles, DQw1 and DQw3, suggests that there is a genetic predisposition to this disease.

pemphigus vulgaris


Input: GRAIL-expressing T cells expressed regulatory T cell markers and showed suppressive effects in murine DSS-induced colitis.

GRAIL

colitis


Input: The FISH results were systematically analyzed among groups, based on histologic diagnosis, cytologic finding, HR-HPV viral load, and age status.

FISH

viral load


Input: To evaluate the contribution of gene expression to the dysregulated cytokine levels, we studied platelet PDGF-A, PDGF-B, TGFbeta1, and bFGF mRNA in ET patients before and during anagrelide treatment.

PDGF-A

ET

PDGF-A

ET


Input: The present study estimated the basal epithelial cell growth fraction using a standard immunohistological method for the detection of nuclear PCNA from 20 Nepalese patients with OSF as 31. 8 per cent compared with 7. 6 per cent for oral mucosa from 43 normal subjects (p < 0. 001) and 39. 4 per cent for 44 patients with oral cancer.

OSF

oral cancer


Input: Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.

ALL

ALL


Input: Hypomorphic mutation in one allele of ribosomal protein l24 gene (Rpl24) is responsible for the Belly Spot and Tail (Bst) mouse, which suffers from defects of the eye, skeleton, and coat pigmentation.

pigmentation


Input: These characteristics of DPP-IV may predispose patients with coronary artery disease (CAD) to plaque rupture and thus to myocardial infarction.

DPP

coronary artery disease


Input: The number of preretinal nuclei in hyperoxia-treated mice was reduced by 66% (P < 0. 05) in EphrinB2-injected eyes, whereas EphB4 treatment yielded a 69% reduction (P < 0. 05), compared with control injections.

hyperoxia


Input: Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

pontocerebellar atrophy


Input: A positive association of FTO and ADIPOQ gene variants with pancreatic cancer may be limited to persons who are overweight.

FTO

overweight


Input: Recent GWAS showed the importance of ERAP1 and ERAP2 in several autoimmune diseases, including ankylosing spondylitis, insulin-dependent diabetes mellitus, psoriasis, multiple sclerosis, Crohn' s disease.

spondylitis


Input: PTEN (phosphatase and tensin homologue deleted on chromosome ten) is a tumor suppressor gene implicated in a wide variety of human cancers, including glioblastoma.

tensin

glioblastoma


Input: In patients with MEN 1: 1) levels of intact PTH (i-PTH) gradually increased with age, which accelerated over 40 years; 2) compared to the steep rise in i-PTH levels in aged patients, increase in serum calcium or decrease of serum inorganic phosphate concentration was relatively mild, and 3) the high concentrations of i-PTH in aged patients were not due to renal insufficiency.

PTH

mild


Input: We describe two novel chromosomal translocations in two cases of leukemia in which these translocations were further characterized as the sole acquired karyotypic abnormality by mutliplex fluorescence in situ hybridization (M-FISH).

FISH

leukemia


Input: A recently identified germline mutation G84E in HOXB13 was shown to increase the risk of prostate cancer.

prostate cancer

prostate cancer


Input: Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

Basan syndrome

Basan syndrome


Input: In the three related patients with microhydranencephaly that we had reported previously, we identified a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon.

microhydranencephaly

microhydranencephaly


Input: We found (i) a statistically significant increase in the frequency of the functional GSTM1 allele in high-grade pediatric astrocytomas (p < 0. 002), (ii) a significant increase in the frequency of the rare GSTP1 variant Val114/Val114 in pediatric astrocytomas (p < 0. 002), and (iii) a significant increase in the frequency of the rare GSTP1 Val114/Val114 genotype among pediatric tumors showing microsatellite instability (MSI) due to defects in mismatch repair (MMR) proteins (p = 0. 003).

microsatellite instability


Input: Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e. g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.

esophageal cancer

esophageal cancer


Input: We developed an isopropyl-beta-D-thiogalactopyranoside-inducible COX-2 gene expression system in human lung adenocarcinoma CL1. 0 cells.

lung adenocarcinoma


Input: Thus, we hypothesize that spinal MMP-9 may contribute to the development of morphine dependence primarily through neuronal activation and interaction with NR1 and NR2B receptors via integrin-beta1 and NO pathways.

morphine dependence

morphine dependence


Input: Four different genes were exclusively upregulated in sarcoidosis: fatty acid binding protein 4 (FABP4), B-MYB, and two EST' s.

B-MYB

sarcoidosis


Input: One of the genes suggested to play an important role in the pathophysiology of bipolar disorder (BPD) is PDLIM5, which encodes LIM domain protein.

LIM domain protein

bipolar disorder

LIM domain protein

bipolar disorder


Input: Transforming growth factor-beta receptor antagonism attenuates myocardial fibrosis in mice with cardiac-restricted overexpression of tumor necrosis factor.

tumor necrosis factor

fibrosis

tumor necrosis factor

fibrosis


Input: Here we further investigated the role of NCX in the etiology of seizures by quantifying the effects of KB-R7943 and SN-6, potent inhibitors of the reverse mode of NCX subtypes 3 (NCX3) and 1 (NCX1), respectively, on the occurrence of acute seizures and status epilepticus induced by intraperitoneal administration of pilocarpine, a muscarinic acetylcholine receptor agonist.

status epilepticus

status epilepticus


Input: Mutations in the USH2A gene, located on 1q41, were recently shown to be responsible for Usher syndrome type IIa.

Usher syndrome type IIa

Usher syndrome type IIa


Input: In addition, blockade of PAR1 by RWJ 56110, a selective PAR1 antagonist, fully abolished the effect of thrombin on HT-29 cell migration and adhesion.

adhesion


Input: Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome.

Larsen syndrome

Larsen syndrome


Input: Rats reinjected with anti-megalin develop heavy proteinuria a few days later, concomitant with c-mip overproduction in podocytes.

megalin

heavy proteinuria


Input: There are evidences from several cytology experiments showing that MYT1 is associated with carcinoma.

carcinoma


Input: Interferon-γ inducible protein 16 (IFI16), a multifunctional protein, has roles in anti-proliferation, autophagy, cell senescence, anti-inflammation, and DNA sensor to trigger innate immunity.

inflammation


Input: In conclusion, MSE analysis of human pancreatic juice may provide useful information for selection of treatment for pancreatic neoplasms.

MSE

pancreatic neoplasms


Input: In carcinoma cells depressed expression of BAX, presence in the cytosol of procaspase-3 and absence in this fraction of cytochrome c have been found.

cytochrome c

carcinoma


Input: The E280K mutation in exon 7 of the PAH gene is a cause of phenylketonuria.

PAH

phenylketonuria

PAH

phenylketonuria


Input: WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies.

manic-depressive psychosis

manic-depressive psychosis


Input: Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).

AARS

axonal neuropathy


Input: Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

hereditary xerocytosis

hereditary xerocytosis


Input: VEGF was synergistically up-regulated by hypoxia and AGE-HSA.

VEGF

hypoxia


Input: How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors.

tumorigenesis


Input: The primary objective of this study was to assess the effects of HCS on both the invasion of pancreatic cancer cells in vitro and on the progression of liver metastasis in vivo in this study.

HCS

liver metastasis


Input: A panel of seven human EGFR wild-type NSCLC cell lines was characterized for their sensitivity to sequential treatment with cisplatin and erlotinib, and the results were correlated with CHFR.

CHFR

NSCLC

CHFR

NSCLC


Input: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

occipital horn syndrome

occipital horn syndrome


Input: There was suggestively significant correlation between visfatin level and body mass index (r =-0. 17 P = 0. 07) and waist-hip ratio (r = 0. 16 P = 0. 08) in male subjects, but not in female subjects.

visfatin

waist-hip ratio


Input: Up-regulation of EGF receptor and its ligands, AREG, EREG, and HB-EGF in oral lichen planus.

AREG

oral lichen planus


Input: These results indicated that TNFAIP3 is a susceptibility gene to SLE both in the Caucasian and Asian populations.

SLE

SLE


Input: Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin E3 ligase [UBE3A] gene mutations).

uniparental disomy


Input: Specifically, MRI analysis revealed that the rats in the MSC-BDNF group exhibited more significant recovery from ischemia after 7 and 14 days.

BDNF

ischemia


Input: And the inhibitor of HIF-1α is a novel promising therapeutic agent for human SCI-induced edema in the future.

edema


Input: In cystic fibrosis (CF) children, we investigated the predictive impact of glutathione S-transferases (GST) activity and genotypes P1, M1 and T1, and antioxidant levels on stage-severity of Pseudomonas aeruginosa lung infection.

GST

lung infection


Input: Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Intellectual Disability

Intellectual Disability


Input: The breakpoint of this translocation has been cloned and characterized, and fusion transcript AML1/ETO has been identified.

translocation


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

CAR

obesity

CAR

obesity


Input: Finally, we demonstrate reduced POMGnT1 enzymatic activity in transgenic knock-in mice carrying the retrotransposal insertion in the fukutin gene, the prevalent mutation in FCMD.

fukutin

FCMD

fukutin

FCMD


Input: This raises the question as to whether there is a subset of patients with skin cancer or AK lesions that are highly/more susceptible to local reactions caused by cyclo-oxygenase-2 (COX-2) inhibitors and peroxisome proliferator-activated receptor (PPAR) agonists?

PPAR

skin cancer


Input: The role of the erythrocyte anion exchanger, band 3 protein (AE1), in the adhesion of Plasmodium falciparum-infected erythrocytes to CD36 and thrombospondin (TSP) was studied.

TSP

adhesion


Input: Further studies revealed that inhibition of Sp1 expression, TGF-β/Smad3-dependent renal fibrosis, NF-κB-driven renal inflammation, and T-bet/Th1-mediated immune response may be mechanisms associated with miR-29b treatment in db/db mice.

T-bet

renal fibrosis


Input: Elevated SP-1 transcription factor expression and activity drives basal and hypoxia-induced vascular endothelial growth factor (VEGF) expression in non-small cell lung cancer.

VEGF

hypoxia


Input: The serotonin transporter gene (SLC6A4, MIM 182138) is a candidate gene in autistic disorder based on neurochemical, neuroendocrine studies and the efficacy of potent serotonin transporter inhibitors in reducing ritualistic behaviors and related aggression.

serotonin transporter

aggression


Input: Based on the clinical data, we analyzed the clinical value of varied NER genes and smoking in 219 bladder cancers by the Kaplan-Meier method and Cox proportional hazards regression.

NER

regression


Input: Mutations in the RNA binding protein fused in sarcoma/translated in liposarcoma (FUS/TLS) cause amyotrophic lateral sclerosis (ALS).

RNA binding protein

sarcoma


Input: The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.

transforming growth factor-alpha

gastric cancer

transforming growth factor-alpha

gastric cancer


Input: Here we report single strand conformation polymorphism (SSCP) screening for nine of the most frequent RYR1 mutations using genomic DNA isolated from MHS patients.

MHS

MHS


Input: The present study was designed to investigate the expression of IL-13 gene in the epithelial compartment of the nasal mucosa of patients with perennial allergic rhinitis (PAR) to house dust mite, comparing it with that in the nasal epithelial compartment of chronic infectious rhinitis (CIR) patients and normal volunteers (NV).

PAR

infectious rhinitis


Input: The expression of E-cadherin, claudin 4, and ZO-1 was analyzed immuno-histochemically using formalin-fixed, paraffin-embedded tissues obtained from 49 patients who underwent radical resection for advanced gastric cancer.

gastric cancer


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

mild


Input: We identified missense mutations and single-codon in-frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome.

hyper-IgE syndrome

hyper-IgE syndrome


Input: In tissue from the second collection, levels of PS2V were markedly elevated in some BP and SZ cases, but there was no overall difference between diagnostic groups.

BP

BP


Input: The sarcomas displayed compensatory activation of PERK or phospho-eIF2α independent upregulation of ATF4 in order to maintain ISR signaling, indicating that this pathway is critical for tumorigenesis.

PERK

sarcomas


Input: Part of the K2e gene was amplified by polymerase chain reaction using genomic DNA from affected and unaffected individuals from two IBS families.

IBS

IBS


Input: Postmortem analysis of sporadic ALS cases also revealed cytoplasmic mislocalization of EWSR1.

sporadic


Input: The effect of lithium, a drug used to treat BP, was also evaluated for its ability to attenuate Nr2e1 (frc/frc) behavioral and neural stem cell-proliferation phenotypes.

BP

BP


Input: Three genes (FLJ32642, MTSG1, and PCM1) had a significantly (P < 0. 001, P < 0. 004, and P < 0. 001) lower expression in primary ovarian carcinoma compared with controls (ovarian tissues and cysts).

cysts


Input: Toward that end, we have constructed an oncolytic adenovirus, Ad. dcn, and a nonreplicating adenovirus, Ad (E1-). dcn, both containing the human decorin gene.

decorin gene

adenovirus


Input: We treated esophageal cancer cells with BPDE before performing methylation-specific polymerase chain reaction (MSP) to find that BPDE induced methylation of the RAR-beta2 gene promoter.

MSP

esophageal cancer


Input: The mutation in the sulfite oxidase gene responsible for sulfite oxidase deficiency in a 5-year-old girl was identified by sequence analysis of cDNA obtained from fibroblast mRNA to be a guanine to adenine transition at nucleotide 479 resulting in the amino acid substitution of Arg-160 to Gln.

sulfite oxidase

sulfite oxidase deficiency

sulfite oxidase

sulfite oxidase deficiency


Input: One SNP, rs1121980, and a haplotype of three SNPs in FTO that contains this SNP, might be important in the progression of insulin resistance in Japanese subjects.

FTO

insulin resistance


Input: Cyclooxygenase-2 inducing Mcl-1-dependent survival mechanism in human lung adenocarcinoma CL1. 0 cells. Involvement of phosphatidylinositol 3-kinase/Akt pathway.

lung adenocarcinoma


Input: HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.

OA

OA


Input: To investigate the role of lncRNA MEG3 in the development of cervical cancer, we examined MEG3 expression in 18 pairs of cervical cancer and matched adjacent non-neoplastic tissues.

non-neoplastic


Input: As well as extending the evidence that glutamatergic abnormalities have a key role in the disorder, this finding draws attention to the behavioural phenotype of Gria1 knockout mice.

abnormalities


Input: In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.

depression

depression


Input: These results suggest that follicular cells newly express PKR during thyroid carcinogenesis, that PKR is more expressed in papillary carcinoma than in nonpapillary carcinoma, that PKR expression may be associated with high vascular invasion and satellite nodules, and that PKR expression is linked to low cell proliferative activity.

PKR

carcinoma


Input: We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.

angiotensin II receptor type 1

renal tubular dysgenesis

angiotensin II receptor type 1

renal tubular dysgenesis


Input: Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.

hyperphosphatemic familial tumoral calcinosis

hyperphosphatemic familial tumoral calcinosis


Input: Antioxidant enzymes GSR, SOD1, SOD2, and CAT gene variants and bone mineral density values in postmenopausal women: a genetic association analysis.

bone mineral density


Input: One such gene target is the bcl-2/immunoglobulin heavy chain (IgH) translocation found in a majority of cases of follicular lymphoma.

translocation


Input: The present findings suggest that the COMT and ALDH3 combination may be the most common type involved in predisposing to schizophrenia.

schizophrenia

schizophrenia


Input: Thus absence or inactivation of pVHL leads to constitutive HIF-1 and HIF-2 expression, which activates transcription of VEGF and other hypoxia-inducible mRNAs.

VEGF

hypoxia


Input: Rats were sacrificed 7 days later, their lymph nodes were collected for evaluation of cellular immunity to beta2GPI and their hearts were removed for assessment of infarct size and for immunohistochemical stains for iNOS and TGF-beta.

TGF-beta

infarct


Input: We related GH1 LCR/promoter SNPs to height, serum insulin-like growth factor 1 (IGF-I) levels and response to GH treatment.

height


Input: Moderate weight reduction did not change gene expression levels of GIPR in subcutaneous fat.

GIPR

weight reduction


Input: QPD is the first bleeding disorder to be associated with a gene duplication event and a PLAU mutation.

PLAU

QPD

PLAU

QPD


Input: The MTA1 gene has been identified as metastasis-associated gene and has been seen to correlate with the degree of invasion and lymphatic metastasis in gastric, colorectal, and esophageal carcinomas.

MTA1 gene

esophageal


Input: We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis.

proton pump

metabolic acidosis


Input: These data demonstrate that i) increased flux of cholesterol from HDL into the liver via SR-BI as a result of phospholipase modification of the HDL particle translates neither into increased biliary and fecal sterol output nor into increased gallstone formation, and ii) increased sPLA2 expression in patients with cholesterol gallstones might be a consequence rather than the underlying cause of the disease.

SR-BI

cholesterol gallstones


Input: Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

ADAR gene

sporadic


Input: Virus-mediated shRNA knockdown of prodynorphin in the rat nucleus accumbens attenuates depression-like behavior and cocaine locomotor sensitization.

prodynorphin

depression

prodynorphin

depression


Input: Sftpc (-/-) mice showed LPS-induced airway goblet cell hyperplasia with increased detection of Sam pointed Ets domain and FoxA3 transcription factors.

hyperplasia


Input: Prolonged treatment with immunosuppressants including azathioprine (Aza), a thiopurine prodrug, has been suggested as a risk factor for the development of late onset leukemias/lymphomas displaying a microsatellite instability (MSI) phenotype, the hallmark of a defective MMR system.

MMR

microsatellite instability


Input: BAY11-7082, a specific inhibitor of NF-κB, reversed the suppression of serum starvation-induced apoptosis by TNF-α.

TNF-α

starvation


Input: Phosphoenolpyruvate carboxykinase (Pck1) helps regulate the triglyceride/fatty acid cycle and development of insulin resistance in mice.

insulin resistance


Input: In a multivariate Cox regression model, EGFR exon 19 deletion was independently predictive of longer PFS (p = 0. 02).

EGFR

regression


Input: The effect of GSTM1, GSTT1, GSTP1 and GSTA1 gene polymorphisms on predicting overall and specific cardiovascular outcomes (myocardial infarction, MI or stroke) was analyzed using Cox regression model, and differences in survival were determined by Kaplan-Meier.

GSTA1 gene

regression


Input: Although it is too early to predict the future cognitive performance of the two infant patients with contiguous gene deletions of OPHN1-EFNB1-PJA1, mild learning disabilities have been recognized in the older, third patient.

mild


Input: MBD4 mutations are rare in gastric carcinomas with microsatellite instability.

microsatellite instability


Input: Elevated levels of the vasocontrictor peptide endothelin-1 have been demonstrated in various pathological conditions that are characterized by sodium retention and/or renal vasoconstriction, such as heart failure, hepatorenal syndrome, renal failure and during administration of cyclosporin and radiocontrast.

syndrome, renal failure

syndrome, renal failure


Input: Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone.

pituitary-specific transcription factor 1

pituitary hormone deficiency


Input: In 180 HCC patients who were admitted to Asahikawa Medical College Hospital from 1987 to 1995, 10 patients (6%) had HCC associated with pure alcoholic liver disease (Al-HCC), whereas the HCC in 165 patients was associated with chronic viral liver diseases, in 2 with primary biliary cirrhosis, in 1 each with coexistence of the hepatitis C virus infection and hemochromatosis, and in 2 with cirrhosis of unknown origin.

HCC

liver diseases


Input: We show by immunostaining that netrin-1 and Unc5b are expressed in macrophages in hypoxia-rich regions of human and mouse plaques.

hypoxia


Input: No experimental evidence has been demonstrated regarding HFD-mediated tumor progression including EMT in CRC so far.

EMT

tumor progression


Input: By profiling 108 colorectal samples using exon arrays, we identified nine genes (TCF12, OSBPL1A, TRAK1, ANK3, CHEK1, UGP2, LMO7, ACSL5, and SCIN) showing tumor-specific alternative TSS usage in both adenoma and cancer samples relative to normal mucosa.

adenoma


Input: This study aimed to investigate associations between MAOA and MAOB polymorphisms and personality traits of positive and negative emotionality in healthy volunteers, to elucidate mechanisms underlying personality and the risk for depression.

MAOB

personality traits


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

HPT

medullary thyroid carcinoma


Input: Combinatorial therapeutic viral delivery of miR-551a and miR-483-5p through single-dose adeno-associated viral (AAV) delivery significantly suppressed colon cancer metastasis, as did CKB inhibition with a small-molecule inhibitor.

CKB

metastasis


Input: When we fed the sialic acid precursor N-acetyl-D-mannosamine (ManNAc) to NPHS2-Angptl4 transgenic rats it increased the sialylation of Angptl4 and decreased albuminuria by more than 40%.

albuminuria


Input: After multivariate analysis, (adjusting for age, eGFR, baseline mean arterial pressure, contemporary CMR heart rate, total cholesterol, high sensitive C-reactive protein, body mass index and gender) GG genotype was associated with a worse LVEF, and increased LV end-diastolic and systolic index (p = 0. 004, 0. 049 and 0. 009 respectively).

C-reactive protein

heart rate


Input: The region contains two genes, AHI1 and C6orf217, and both genes-as well as the neighbouring phosphodiesterase 7B (PDE7B)-may be considered candidates for involvement in the genetic aetiology of schizophrenia.

schizophrenia

schizophrenia


Input: CHD7 deficiency in " Looper ", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

otosclerosis


Input: The predictive values of the HPV results in LBC by the different tests for presence of CIN2-3 in follow-up biopsies, and regression in subsequent cones, was assessed.

LBC

regression


Input: Our result provides the first evidence that PARG inhibitors can ameliorate ischemic brain damage in vivo, in support of PARG as a new therapeutic target for treating ischemia injury.

PARG

ischemia


Input: Mice lacking the tumor necrosis factor-alpha receptor 2 (TNFR2) gene fed a high-fat diet gain less weight and display reduced leptin and insulin levels.

tumor necrosis factor-alpha receptor

weight


Input: In our study, we assessed the expression of DEC1 in 1p aberrant oligodendroglial neoplasms and its association with necrosis and expression of hypoxia-inducible factor 1alpha (HIF-1alpha), carbonic anhydrase-9 (CA9), and vascular endothelial growth factor-mRNA (VEGF).

VEGF

necrosis


Input: We conclude that FISH is a practical, useful and reliable method over Southern especially for analysis of N-myc amplification in neuroblastoma, and simultaneous cohybridization with a specific chromosome probe is of great value in predicting the prognosis of patients.

FISH

neuroblastoma


Input: Overexpression of NGF is known to mediate inflammation of bladder in this model.

NGF

inflammation of bladder

NGF

inflammation of bladder


Input: Under hypoxic conditions, induction of CTGF by TGF-beta was repressed.

TGF-beta

hypoxic


Input: Compared with the sporadic mismatch repair-defective cohort, MSH6 cases had a lower prevalence of tumor-infiltrating lymphocytes and Crohn-like reactions.

sporadic


Input: There were no differences in gene expression of EP300, KAT2B, CREBBP, or HDACs 1, 2 and 3 in blood monocytes from subjects with asthma or inflammatory phenotypes of asthma.

asthma


Input: Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial.

apolipoprotein B

blind


Input: Since cardiac hormone-sensitive lipase (HSL) is activated in diabetic mice, we sought to explore a pathophysiological function of cardiac HSL in the development of diabetic cardiomyopathy.

HSL

diabetic cardiomyopathy


Input: Forced expression of BCAR4 in human ZR-75-1 and MCF7 breast cancer cells resulted in cell proliferation in the absence of estrogen and in the presence of various antiestrogens.

breast cancer

breast cancer


Input: In most human follicular lymphomas, the chromosome translocation t (14; 18) occurs within two breakpoint clustering regions on chromosome 18, the major one at the 3' untranslated region of the bcl-2 gene and the minor one at 3' of the gene.

bcl-2 gene

chromosome translocation


Input: These results demonstrated the contribution of MIF to the pathogenesis of dengue and pointed to a possible beneficial role of neutralizing MIF as an adjunctive therapeutic approach to treat the severe forms of the disease.

MIF

dengue


Input: A de novo balanced translocation t (7; 12) (p21. 2; p12. 3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

TWIST

translocation


Input: Of a total of 20 individuals with mutations in the RYR1 gene, 14 were part of a group of 47 MH susceptible (MHS) patients, 4 of 34 individuals diagnosed as MH equivocal (MHE), and 2 were patients diagnosed with minicore myopathy and CCD, respectively.

MHS

MHS


Input: To establish changes in phototransduction in diabetes, the effects of high glucose on rhodopsin kinase (RK) and transducin (G (t)), as well as recoverin, were examined in the retina of STZ-induced diabetic rats.

rhodopsin kinase

diabetes


Input: Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.

major depression

major depression


Input: In vivo therapeutic antitumor efficacy of replication-defective adenovirus (E1 and E3 deleted adenovirus serotype 5) encoding human FIR cDNA (Ad-FIR) was demonstrated in the tumor xenograft model of human esophageal squamous cancer cells, TE-2.

FIR

esophageal


Input: In this study, SAK expression was evaluated in a series of sporadic human colorectal cancer specimens (n = 74) and compared with that of PLK.

PLK

sporadic


Input: Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.

Factor H

hemolysis, elevated liver enzymes, and low platelet count

Factor H

hemolysis, elevated liver enzymes, and low platelet count


Input: We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls.

mammographic density


Input: In vitro, IL-20 expression increased in hypoxic HaCaT, HEK293 cells, chondrocytes, monocytes, and glioblastoma cells.

hypoxic


Input: Human breast carcinoma cells transfected with the gene encoding a c-myc promoter-binding protein (MBP-1) inhibits tumors in nude mice.

myc promoter-binding protein

tumors


Input: However, viral p24 or RNA remained almost always detectable in tissue despite full suppression of HIV-1 RNA in plasma, and increased even after short-term rebounds in plasma viral load.

viral load


Input: 131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical " Portuguese variant " axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits.

TTR

spinal cord ischemia


Input: An international randomized, double-blind, placebo-controlled study was conducted in patients with completely resected IB to IIIA NSCLC whose tumors expressed EGFR protein by immunohistochemistry or EGFR amplification by fluorescence in situ hybridization.

EGFR

blind


Input: ARF induced by Cr (6 +) provoked augment in the sodium and glucose urinary looses, increases in occludin quantity (6. 6-and 15-fold on days 2 and 7, respectively) and the mislocation of cln-2.

occludin

ARF

occludin

ARF


Input: Maternal plasma leptin levels, placental leptin receptor abundance, fetal number, fetal weight, and placental weight were determined.

leptin receptor

weight


Input: We report the biochemical characterization of six missense mutations TTP (1) that are found in human AVED patients.

TTP (1

AVED

TTP (1

AVED


Input: We hypothesized that Fox expression is altered in the lungs of the nitrofen-induced CDH rat model and investigated the expression of FoxF1, FoxC2, and FoxO1.

CDH

CDH


Input: Altered influence of CCK-B/gastrin receptors on HDC expression in ECL cells after neoplastic transformation.

HDC

neoplastic transformation


Input: These results suggest that the T1521C polymorphism in the GABRA6 gene is associated with specific personality characteristics as well as a marked attenuation in hormonal and blood pressure responses to psychological stress.

GABRA6 gene

blood pressure


Input: All bone marrow biopsies of JAK2 (V617F)-mutated CMML showed increased erythropoiesis, a marked myeloid and megakaryocytic hyperplasia with occasionally clustered megakaryocytes, and a mild or moderate (grade 1 or 2) fibrosis; six cases showed an increased number of dilated sinusoids and reactive lymphoid nodules.

fibrosis


Input: HIF expression was colocalized with regional up-regulation of the hypoxia-inducible genes heme oxygenase-1 and vascular endothelial growth factor (VEGF), and was followed by capillary and tubular proliferation.

VEGF

hypoxia


Input: Overexpression of GRP78 and GRP94 are markers for aggressive behavior and poor prognosis in gastric carcinomas.

carcinomas


Input: We screened 150 women with endometriosis for a polymorphism in a let-7 microRNA (miRNA) binding site in the 3'-UTR of KRAS and detected a KRAS variant allele in 31% of women with endometriosis as opposed to 5% of a large diverse control population.

UTR

endometriosis


Input: Co-existence of renovascular hypertension, polyarteritis nodosa, antiphospholipid syndrome and methylenetetrahydrofolate reductase mutation.

methylenetetrahydrofolate reductase

polyarteritis nodosa


Input: NDP gene mutations in 14 French families with Norrie disease.

NDP

Norrie disease

NDP

Norrie disease


Input: Sequence analysis of the NBS1 gene was performed from PCR products amplified from the DNA of 12 extracranial ML or RT-PCR products amplified from cDNA of 8 primary central nervous system lymphoma.

primary central nervous system lymphoma


Input: Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m. 1555A & gt; G mutations for 11 previously mapped recessive deafness loci showed a family in which hearing loss cosegregated with the DFNB9 (OTOF) locus.

OTOF

OTOF


Input: In addition, three children with iron refractory iron deficiency anemia, and one sibling with iron responsive iron deficiency anemia were also examined for polymorphisms or sporadic mutations in TMPRSS6.

sporadic


Input: Vandetanib alone caused regression in EGFR + but not EGFR-tumors and RT therapy alone was similar in both tumor types.

EGFR

regression


Input: These then accumulate in the nucleus and bind to short DNA sequences called hypoxia-response elements (HREs) near or in such oxygen-sensitive genes as that encoding the pro-angiogenic factor vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: In the present study, an adenovirus expressing a triple mutant (TM) of FKHRL1, which cannot be phosphorylated by Akt, was assessed for its ability to induce apoptosis in melanoma cells.

adenovirus


Input: Hence, IL-17F may have a crucial role in allergic airway inflammation, and have important therapeutic implications in asthma.

inflammation


Input: The mRNA levels of growth arrest-DNA damage inducible 34 (gadd34), gadd45, and gadd153 genes were, contrary to expectation, not higher in the Se-treated carcinomas than in the gavage or diet restriction control groups.

carcinomas


Input: Our group has observed a lower plasma glucose level in diabetic subjects carrying the low activity ACP1 phenotypes A and BA, and a positive association between these genotypes and body mass index (BMI).

body mass index


Input: The analysis of nuclear candidate genes revealed mutations in NDUF8 (patient with nystagmus), TULP1 (patient with optic neuropathy, nystagmus and retinopathy) and RP2 (patient with retinopathy) genes.

optic neuropathy


Input: Cytogenetically, synovial sarcoma (SS) is characterized by the translocation t (X; 18) (p11. 2; q11. 2), resulting in a fusion between the SYT gene on chromosome 18 and SSX1 or SSX2 on the X chromosome and the formation of new chimeric genes, SYT-SSX1 or SYT-SSX2.

translocation


Input: HIF-1alpha was not expressed in benign breast tissue, whereas it was significantly expressed in DH, ADH, DCIS, and IDC (p & lt; 0. 001).

ADH

ADH


Input: Alterations in DNA mismatch repair (MMR) proteins result in microsatellite instability (MSI), increased mutation accumulation at target genes and cancer development.

MMR

microsatellite instability


Input: The FISH method clearly demonstrated that all patients with the TEL/AML1 fusion had subpopulations of leukemic cells with deletion of the normal TEL allele, which is significant for understanding the progression of leukemia with t (12; 21).

FISH

leukemia


Input: In human and experimental models of arterial PH, the Fox protein FoxO1 was found to be downregulated.

PH

PH


Input: An IL-7 splicing-defect lymphopenia mouse model revealed by genome-wide mutagenesis.

lymphopenia

lymphopenia


Input: Disorders that disturb ubiquitin regulatory signaling include at least two subtypes of Fanconi anemia, the BRCA1 and BRCA2 forms of breast and ovarian cancer susceptibility, incontinentia pigmenti, and cylindromatosis.

incontinentia pigmenti


Input: In sera obtained from 32 patients with different forms of neurological symptoms due to focal cerebral ischemia, secretagogin levels ranged from 3 to 236 pg/ml, with highest levels observed on days 2 and 3 after infarction.

secretagogin

infarction


Input: Combined pituitary hormone deficiency in this patient is caused by loss of POU1F1 function by two novel mechanisms, namely aberrant splicing (IVS1 + 3nt (A > G) and protein instability (R265W).

pituitary hormone deficiency


Input: In contrast to the results in a group of 30 RF-positive RA patients, the percentage of patients having at least one of the susceptibility alleles (HLA DR1 or HLA-DR4) was not significantly higher in patients with RF-negative, ANA-positive arthritis than in controls.

arthritis


Input: IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Bardet-Biedl syndrome

Bardet-Biedl syndrome


Input: We enrolled 109 consecutive patients with left ventricular systolic dysfunction [left ventricular ejection fraction (LVEF) 32 ± 10%; 86% males; age 65 ± 13 years (mean ± standard deviation)] on optimized adrenergic and renin-angiotensin-aldosterone system (RAAS) antagonism, undergoing clinical and neuroendocrine characterization, and genotyping for six polymorphisms in key RAAS-regulating genes [angiotensinogen (AGT M235T), angiotensin-converting enzyme (ACE-240A > T and I/D), angiotensin II type I receptor (AGTR1 1166A > C), aldosterone synthase (CYP11B2-344C > T) and renin (REN rs7539596)].

left ventricular systolic dysfunction


Input: Thus a more complete understanding of the functional consequences of androgen receptor mutations may provide a more rational basis for gender assignment in PAIS.

androgen receptor

PAIS

androgen receptor

PAIS


Input: Stepwise regression indicated three independent signals for BAK1 and TERT, two for SPRY4 and one each for DMRT1, ATF7IP and KITLG.

regression


Input: Drp1 stabilizes p53 on the mitochondria to trigger necrosis under oxidative stress conditions in vitro and in vivo.

necrosis


Input: Changes in epigenetic regulation of CD4 + T lymphocytesin biliary atresia.

biliary atresia


Input: GDNF is overexpressed in glioblastoma cell lines and human gliomas.

GDNF

gliomas

GDNF

gliomas


Input: As CRBP1 regulates intracellular retinoic acid (vitamin A) homeostasis, which is involved in morphogenesis, and cellular proliferation and differentiation, the loss of CRBP1 could cause tumorigenesis in BC.

tumorigenesis


Input: Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Deafness

Deafness


Input: Four double cortex/X-linked lissencephaly families and three sporadic double cortex patients show independent doublecortin mutations, at least one of them a de novo mutation.

doublecortin

sporadic


Input: The mRNA levels of OGT and MGEA5 genes were determined in 106 squamous cell laryngeal cancer (SCLC) cases and 73 non-cancerous adjacent laryngeal mucosa (NCLM) controls using quantitative real-time PCR.

laryngeal cancer


Input: Roles of p63 in epidermal development and tumorigenesis.

tumorigenesis


Input: The aim of the present study was to assess the c-fos gene and protein expression in pelvic endometriotic implants in comparison to normal endometrium from infertile women.

fos gene

infertile


Input: In this study we examine the in vivo formation of the Apaf-1/cytochrome c complex and activation of caspase-9 following limbic seizures in the rat.

cytochrome c

seizures


Input: Thirty genes, including tumor suppressors or candidates (for example, VHL, RBSP3/CTDSPL, ITGA9, LRRC3B, ALDH1L1, EPHB1) and genes previously unknown as cancer-associated (ABHD5, C3orf77, PRL32, LOC285375, FGD5 and others), showed methylation/deletion in 21-44% of tumors.

cancer


Input: This study explored the polymorphisms of TIM3 gene in 535 patients with HBV-related liver diseases including 213 chronic hepatitis, 178 cirrhosis and 144 HCC, 72 HBV infection resolvers and 182 healthy controls and analyzed the effects of these polymorphisms on the disease susceptibility and HCC traits.

HCC

liver diseases


Input: We describe the development and use of a sensitive reverse transcription-PCR (RT-PCR) procedure to detect novel estrogen-regulated gene expression in small clinical breast cancer samples, in which such study would be extremely difficult by any other molecular or immunocytochemical means.

estrogen-regulated gene

breast cancer


Input: No influence of FVL and/or ABO (H) on ante-natal bleeding or intra-partum or postpartum haemorrhage was observed.

ABO

postpartum haemorrhage


Input: Consistently, the expression levels of IL-17 and IL-21 genes, one of the signature genes for Th17 cells, were significantly up-regulated after hypoxia exposure in the lungs of mice treated with control antibody but not in the lungs of mice treated with MR16-1.

hypoxia


Input: Nuclear localization of N-CoR is a feature of undifferentiated neural stem cells and cytoplasmic translocation of N-CoR leads to astrocytic differentiation.

N-CoR

translocation


Input: Glioblastoma multiforme expressed higher levels of Angl, but not to the same degree as pseudopalisading astrocytoma cells around necrotic and hypoxic zones expressed VEGF, as shown in previous studies.

VEGF

hypoxic


Input: S1P4) and SK1 in cancer, where high expression of these proteins in ER negative breast cancer patient tumours is linked with poor prognosis.

cancer


Input: Our study suggests that in hypoxic pancreatic tumors PKM2 interferes both with NF-κB/p65 and HIF-1α activation that ultimately triggers VEGF-A secretion and subsequent blood vessel formation.

VEGF-A

hypoxic


Input: Up-regulation of hypoxia-inducible genes VEGFA, FLT1, VEGFC, HMOX1, and TIE2 was significant in donor airways relative to native airways (all P < 0. 05).

VEGFC

hypoxia


Input: CYBB mutation analysis in X-linked chronic granulomatous disease.

CYBB

X-linked chronic granulomatous disease

CYBB

X-linked chronic granulomatous disease


Input: These results demonstrate biochemical abnormalities of alpha-synuclein, and increased oxidative stress damage and oxidative stress responses in the frontal cortex in PD linked with G2019S LRRK2 mutation not related with the presence of cortical LBs and in the absence of apparent cognitive deficits.

abnormalities


Input: Transgenic mice (TG) with cardiac specific over-expression of Hsp27 and their wild type littermates (WT) were challenged with doxorubicin (25 mg/kg, IP) to induce HF.

HF

HF


Input: To stimulate adjuvant-autoantigen fusion protein biosynthesis in the gut mucosae, the authors evaluated oral inoculation of juvenile non-obese diabetic (NOD) mice with recombinant vaccinia virus (rVV) expressing fusion genes encoding CTB linked to the pancreatic islet autoantigens proinsulin (INS) and a 55-kDa C-terminal peptide from glutamate decarboxylase (GAD55).

CTB

obese


Input: HDAC1 and HDAC5 protein levels were elevated in lungs from human idiopathic pulmonary arterial hypertension and in lungs and right ventricles from rats exposed to hypoxia.

idiopathic pulmonary arterial hypertension

idiopathic pulmonary arterial hypertension


Input: The aim of the present study was to evaluate associations between mismatch repair (MMR) status and clinicopathological characteristics and prognosis using immunohistochemistry (IHC) and microsatellite instability (MSI) analyses in a prospective cohort of a large number of accumulated samples.

MMR

microsatellite instability


Input: Loss of LKB1 and p53 synergizes to alter fallopian tube epithelial phenotype and high-grade serous tumorigenesis.

tumorigenesis


Input: Intravital microscopy analysis showed that leukocyte rolling and adhesion on vascular endothelium was reduced in MMP8 knockout mice.

adhesion


Input: Seven SNPs, spanning about 38 kb, in intron 9 of CTNNA3 were found to show multiple-hit association with LOAD in females, and exhibited more significant association on Mantel-Haenszel test (allelic P-values (MH-F) = 0. 000005945-0. 0007658).

hit


Input: We first identified MFG-E8 downregulation in invasive lesions in transgenic mammary tumor models, which were confirmed in LCM-isolated human invasive ductal carcinomas compared with patient-matched normal tissues.

mammary tumor


Input: The present study investigated the relationship between the specific polymorphisms of MAO-A, COMT, DRD2, DRD3 and personality traits in Japanese women using a novel genotyping method involving electrochemical DNA array (ECA) chip analysis.

COMT

personality traits


Input: Therefore, in terms of atherogenesis, apo A-II alters the intermediate HDL metabolism in opposing ways by increasing (LCAT, SR-BI) or decreasing (HL, CETP) the atherogenicity of lipid metabolism.

SR-BI

atherogenesis


Input: The plasma levels of protein Z were measured using a commercially available enzyme-linked immunosorbent assay in 33 patients with ischemic colitis, 13 patients with diverticulitis, and 33 healthy controls.

protein Z

ischemic colitis


Input: PAX2: a reliable marker for nephrogenic adenoma.

nephrogenic adenoma


Input: These results suggest that if BCL2 deregulation does indeed occur in MM, a mechanism other than translocation must be involved in most cases.

translocation


Input: The V22G mutation of Unc119 represents a novel genetic defect in ICL.

ICL

ICL


Input: MicroRNA-30c-2 * expressed in ovarian cancer cells suppresses growth factor-induced cellular proliferation and downregulates the oncogene BCL9.

ovarian cancer

ovarian cancer


Input: In SCCHN disruption of the TP53 gene and overrepresentation of certain p63 isoforms has been seen, indicating that this could lead to neoplastic transformation.

neoplastic transformation


Input: Moreover, concerning the stage of the coexisted liver diseases, in NBNC CLD, LC patients with HCC is 19 of 26 (73. 1%), on the other hand, LC patients without HCC is 16 of 34 (47. 1%).

HCC

liver diseases


Input: Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A.

epileptic encephalopathy

epileptic encephalopathy


Input: Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders.

NDP

motor disorders


Input: CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: We found that radixin shRNA caused down-regulation of radixin in PANC-1 cells, associated with inhibition of pancreatic cancer cell proliferation, survival, adhesion and invasive potential in vitro.

radixin

adhesion


Input: In light of our recent findings and to investigate the potential interaction between Wnt and ILK proteins during mammary tumor formation and progression, we established a transgenic mouse model that expresses both Wnt and ILK in mammary epithelial cells.

ILK

mammary tumor


Input: The aim of the study is to examine rs4680 (COMT) and rs6265 (BDNF) as genetic markers of anxiety, ADHD, and tics.

BDNF

tics


Input: Compound C, an inhibitor of AMPK, suppressed the expressions of AM and VEGF which had already been enhanced under glucose-deprived hypoxic conditions.

VEGF

hypoxic


Input: There are synergistic joint interactions of ATM genotyping with smoking, alcohol drinking, and betel quid chewing.

ATM

alcohol drinking


Input: As shown previously in other cell types, mRNA levels for vascular endothelial growth factor (VEGF) and glucose transporter 1 (GLUT-1) were up-regulated by hypoxia.

VEGF

hypoxia


Input: We investigated 12 neuroblastoma patients for MYCN amplification and chromosome 2 aneusomy by fluorescence in situ hybridization (FISH) and results were correlated with conventional cytogenetics.

FISH

neuroblastoma


Input: Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.

cytoskeletal protein

congenital cataract


Input: Frequencies of-2548G > A LEP (rs7799039), Q223R (rs1137101) and K656N (rs8129183) LEPR, and-11377C > G (rs266729) and-11426A > G (rs16861194) ADIPOQ polymorphisms were analyzed by restriction fragment length polymorphism in 101 obese (standard deviation score [SDS]-body mass index [BMI] > 2) and 67 normal-weight (SDS-BMI <-1 + 1 >) children.

ADIPOQ

weight


Input: Several studies claim that prothrombin 20210GA and factor V Leiden mutations are related to arterial thrombosis.

factor V Leiden

arterial thrombosis


Input: At 4 weeks after SE, SRIF1-family (SSTR 2A, SSTR2B, and SSTR5) immunoreactivity was increased only in neuropil.

SE

SE


Input: The goal of the present study was to identify the intracellular mediators responsible for the IGF-I anti-atrophic action in GC-induced muscle atrophy.

IGF-I

muscle atrophy

IGF-I

muscle atrophy


Input: Patients having the rs1974226 GG genotype were more susceptible to Gram-positive infection, compared to AG/AA genotype in the two cohorts of severe sepsis (SPH, P = 0. 0036, odds ratio (OR) 2. 19, 95% confidence interval (CI) 1. 28-3. 72; VASST, P = 0. 011, OR 1. 95, 95% CI 1. 16-3. 27) and in the subgroup having lung infection (P = 0. 017, OR 1. 90, 95% CI 1. 12-3. 21).

SPH

severe sepsis


Input: In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.

bipolar disorder

bipolar disorder


Input: Cardiac-specific overexpression of MED13 or pharmacologic inhibition of miR-208a in mice confers resistance to high-fat diet-induced obesity and improves systemic insulin sensitivity and glucose tolerance.

insulin sensitivity


Input: We also find that Fgd1 is expressed in human prostate and breast cancer as opposed to normal tissue and that expression levels matched tumor aggressiveness.

aggressiveness


Input: Using real-time quantitative PCR and in situ hybridization, we showed that the expression of DLL4 was up-regulated within the vasculature of clear cell-renal cell carcinoma almost 9-fold more than normal kidney and was correlated with the expression of vascular endothelial growth factor (VEGF).

renal cell carcinoma


Input: In conclusion, we were able to reproduce previously found associations between PPP1R13L and CD3EAP polymorphisms and lung cancer risk in an increased study group, and we found interactions between NFKB1 rs28362491-PPP1R13L rs1970764 and smoking duration and between CD3EAP rs735482 and smoking duration.

smoking


Input: LIPH expression was also observed less frequently in the squamous lung cancer tissue samples.

LIPH

lung cancer


Input: This study examined the association of demographic, clinical and biological factors (IL-1alpha, IL-1beta, IL-1RA, IL-6, TNF-alpha, IFN-gamma, LIF, IGF-I, APOE genotype) with the presence and severity of delirium.

LIF

delirium

LIF

delirium


Input: The mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) were lower in Group I. Globin analysis in 30 of these subjects showed that 20 had four, eight had three, and two had two alpha-globin genes.

MCH

mean corpuscular volume


Input: Second, four of these genes (GNL3, MAT1A, SKA3, and ZMYM5) harbored SNPs associated with aggressive tumorigenesis in the PLCO/CGEMS GWAS of 1172 PC patients.

tumorigenesis


Input: WAY-202196, a selective estrogen receptor-beta agonist, protects against death in experimental septic shock.

estrogen receptor

septic shock


Input: Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

NDP

Norrie disease

NDP

Norrie disease


Input: Each A allele of FTO was associated with 0. 35 +/-0. 13 kg more fat mass at 13 y and each 1 kJ/g DED at 10 y was associated with 0. 16 +/-0. 06 kg more fat mass at age 13 y, after controlling for misreporting of energy intake, gender, puberty, overweight status at 10 y, maternal education, TV watching, and physical activity.

FTO

overweight


Input: In cultured neonatal cardiac myocytes, adenovirus-mediated Phactr1 overexpression for 48 hours markedly increased the skeletal α-actin to cardiac α-actin ratio, this being associated with an enhanced DNA binding activity of serum response factor.

serum response factor

adenovirus


Input: FISH analyses for alterations in chromosomes 1, 2, 3, and 11 define high-risk groups in neuroblastoma.

FISH

neuroblastoma


Input: To test for a position effect on 18p11 sequences translocated to 21p11, we performed quantitative RT-PCR to measure the expression of the candidate gene C18orf1 in translocation carriers, but found no significant differences from controls in lymphoblastoid cells.

translocation


Input: CYP2E1-dependent and leptin-mediated hepatic CD57 expression on CD8 + T cells aid progression of environment-linked nonalcoholic steatohepatitis.

nonalcoholic steatohepatitis

nonalcoholic steatohepatitis


Input: Humans with ankyrin-B mutations display varying degrees of cardiac dysfunction including bradycardia, sinus arrhythmia, idiopathic ventricular fibrillation, catecholaminergic polymorphic ventricular tachycardia, and risk of sudden death.

ankyrin-B

idiopathic ventricular fibrillation


Input: The single LGI1 mutation identified in this study is a novel missense variant (NM_005097. 2: c. 1013T > C; p. Phe338Ser) observed de novo in a sporadic patient.

sporadic


Input: Significant higher expression (P < 0. 05) of Interferon-gamma, IL-12, IL-23 and GM-CSF were found in Inc-stimulated CD4 enriched cervical cells of CT-positive fertile women and contrastingly high IL-1 Beta, IL-4, IL-5, IL-6 and IL-10 levels were found in CT-positive infertile women.

infertile


Input: When autocrine activation was induced with HGF-expressing adenovirus, E-cadherin and Desmoglein 1 were decreased in melanocytes, WM164 and WM35.

Desmoglein 1

adenovirus


Input: The expression of MUC4, a high-molecular-weight and highly glycosylated protein, has been studied in many cancers.

weight


Input: In infected cells, poly (ADP-ribose) polymerase 1 (PARP-1), a DNA repair enzyme that also regulates HMGB1 translocation, was found to be cleaved into fragments that correspond to a necrosis like pattern of PARP-1 degradation.

DNA repair enzyme

necrosis


Input: Females with the MECP2 mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI).

asymptomatic


Input: Here, we report a de novo heterozygous mutation in NALCN affecting a conserved residue (p. R1181Q) in a girl with ID, episodic and persistent ataxia, and arthrogryposis.

NALCN

ataxia


Input: Influence of genistein on c-Jun, c-Fos and Fos-B of AP-1 subunits expression in skin keratinocytes, fibroblasts and keloid fibroblasts cultured in vitro.

keloid


Input: In vitro induction of myeloid leukemia-specific CD4 and CD8 T cells by CD40 ligand-activated B cells gene modified to express primary granule proteins.

myeloid leukemia


Input: Inhibition of RLIP76 expression in U87 and U251 glioma cell lines by stable transfection of a targeted siRNA suppressed anchorage-independent growth and enhanced apoptosis in vitro.

glioma


Input: Two novel mutations (HBG1: c.-250C & gt; T and HBG2: c.-250C & gt; T) associated with hereditary persistence of fetal hemoglobin.

hereditary persistence of fetal hemoglobin

hereditary persistence of fetal hemoglobin


Input: BRCA1-associated protein-1 (BAP1) mutations cause a new cancer syndrome, with a high rate of malignant mesothelioma (MM).

BRCA1-associated protein

malignant mesothelioma


Input: Here, we show that mammary epithelial disruption of ILK results in a profound block in mammary tumor induction.

ILK

mammary tumor


Input: X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin.

phosphoinositide lipid phosphatase

neuromuscular disease


Input: In vitro, C5aR on leukocytes is required for effective transendothelial migration but not adhesion.

adhesion


Input: A discriminant function of four miRNAs (miR-140-5p, miR-423-5p, miR-195, and miR-126) was specific for T2D with an accuracy of 89. 2% (P & lt; 0. 0001).


Input: Myelin transcription factor 1-like (MYT1L) is a member of the myelin transcription factor 1 (MYT1) gene family, and the neural specific, zinc-finger-containing, DNA-binding protein that it encodes plays a role in the development of the nervous system.

DNA-binding protein

nervous system


Input: These results suggest that the poor response of patients with CD34 + leukemia cells could be at least partially due to less chemotherapy-induced apoptosis resulting from protection by SCF as an adjuvant mechanism for drug resistance in myeloid leukemia.

SCF

leukemia


Input: In a Chinese cohort consisting of 2013 sporadic PD patients and 1971 controls, we investigated the modification of the two Asian-specific LRRK2 variants, G2385R and R1628P, by variants of five other PD-associated genes/loci (SNCA, MAPT, GBA, BST1, PARK16).

sporadic


Input: Mice were given paracetamol (600 mg/kg) enterally 2 days after adenovirus-mediated gene transfer of EC-SOD (2 x 10 (9) pfu).

EC-SOD

adenovirus


Input: Recently, genetic disruption of COX-1, the other isoform, was shown to decrease the number of intestinal polyps and prostaglandin E (2) levels in intestinal mucosa, like the case with COX-2 gene disruption, in Min mice.

intestinal polyps

intestinal polyps


Input: RALA and RALB GTPases lie downstream of RAS and are implicated in RAS-mediated tumorigenesis.

RALA

tumorigenesis


Input: Potential of reduction in total tumor volume measured with 3D-MRI as a prognostic factor for locally-advanced breast cancer patients treated with primary chemotherapy.

MRI

breast cancer


Input: Taken together, these recent data suggest that increased HIF-1 activity provides a molecular basis for VEGF-induced angiogenesis and other adaptations of cancer cells to hypoxia that are critical for establishment of a primary tumor and its progression to the lethal phenotype.

VEGF

hypoxia


Input: FUsed in sarcoma (FUS) is a multifunctional DNA/RNA-binding protein that possesses diverse roles, such as RNA splicing, RNA transport, DNA repair, translation, and transcription.

RNA-binding protein

sarcoma


Input: We detected hypoxia-inducible factor 1alpha (HIF-1alpha)-dependent induction of expression of the gene encoding netrin-1 (Ntn1) in hypoxic epithelia.

hypoxic


Input: A significant correlation was found between the ACE mRNA gene expression and the mean blood pressure, serum creatinine, blood urea nitrogen and 24-h urinary protein.

ACE

mean blood pressure


Input: Here, we show that hypoxia reduced vascular endothelial growth factor C (VEGF-C) transcription and cap-dependent translation via the upregulation of hypophosphorylated 4E-binding protein 1 (4E-BP1).

vascular endothelial growth factor C

hypoxia


Input: As a result, BRCA1 mutations often result in defective DNA repair, genomic instability and sensitivity to DNA damaging agents.

genomic instability


Input: The novel partner gene was identified as HCMOGT-1 using 5'-rapid amplification of cDNA ends; fluorescence in situ hybridization and reverse transcriptase-PCR analyses confirmed that the translocation resulted in PDGFRB/HCMOGT-1 fusion.

translocation


Input: Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families.

RET

HSCR

RET

HSCR


Input: Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: In this study, the presence of T/A mutation at position-874 in IFN-gamma gene was assessed in patients with latent autoimmune diabetes of adults (LADA), in patients with type 2 diabetes and in healthy individuals.

IFN

latent autoimmune diabetes of adults


Input: IL-28B rs12979860 C/T polymorphism T allele is more prevalent in patients with viral cirrhosis due to HCV in comparison to other aetiologies and to patients with mild chronic hepatitis C. Among OLT patients, carriage of this allele seems to augment the risk of developing HCC.

mild


Input: To explore the association between the genetic variant of E-cadherin gene and endometriosis-related infertility.

E-cadherin

infertility


Input: As expected, a progressive increase of mutant allele burden was observed from essential thrombocythemia (ET) to polycythemia vera (PV) and primary myelofibrosis (PMF) to secondary myelofibrosis (SMF).

SMF

polycythemia vera


Input: Our previous studies demonstrated that mutant KRAS alleles can interact with hypoxia to induce vascular endothelial growth factor (VEGF) in colon cancer.

VEGF

hypoxia


Input: To observe the expressions of mRNA and protein for the CCR2 in cerebral tissue with experimental hypoxic-ischemic brain damage (HIBD) to newborn rat.

hypoxic


Input: As the clinical diagnosis was LAEB, DSP mutation analysis was performed.

DSP

LAEB

DSP

LAEB


Input: Next, we used ultraviolet (UV) and serum starvation-induced apoptosis models to investigate whether NS suppression or up-regulation affects HCC cell apoptosis.

HCC

starvation


Input: By activating specific receptors (likely AM2) and the PI3K/Akt/GSK3beta signaling pathway, AM could play a significant role in long-lasting heat hypersensitivity and inflammatory heat hyperalgesia.

hyperalgesia


Input: Placental expression of AQP9 related to expression of the phospholipase ENPP2 which was positively associated with infant birth weight (coefficient estimate: 0. 28; 95% CI: 0. 09-0. 47).

birth weight

birth weight


Input: In minimal change nephrotic syndrome, a relationship with HLA-DR3, DR7, DR3/7 and DQ2 was found.

minimal change nephrotic syndrome


Input: Annual MRI and mammography is recommended for BRCA1/2 mutation carriers to reduce breast cancer mortality.

MRI

breast cancer


Input: However, advanced plaques in SMP8/Apoe (-/-) mice displayed several features of plaque stability, including increased fibrous cap area, α-smooth muscle actin-positive SMC and collagen content, and reduced necrotic cores.

SMC

plaque


Input: Subsequently, we generated an adenovirus containing the HMGA2 gene in the antisense orientation (Ad-A2as) to study the effect of HMGA2 protein suppression in ALT cells.

HMGA2 gene

adenovirus


Input: These data provide initial guidelines for the timing of prophylactic thyroidectomy in asymptomatic carriers of RET gene mutations.

RET gene

asymptomatic


Input: The interaction of platelets with leukocytes is mainly determined by the proteins encoded by six genes: P-Selectin (SELP encodes CD62P) on the thrombocyte binding to P-Selectin-Glycoprotein-Ligand-1 (PSGL1) on the leukocyte, intracellular-adhesion-molecule 2 (ICAM2) interacting with Integrin alpha M (ITGAM) and Glycoprotein 1b-alpha (GP1BA) binding to Integrin alpha L (ITGAL).

adhesion


Input: The function of MR1 is unknown, but the 2 mutations identified in the 4 families with PNKD studied to date are predicted to disrupt the amino terminal alpha-helix suggesting that this region of the gene is critical for proper gene function under stressful conditions.

PNKD

PNKD


Input: Results from our family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.

schizophrenia

schizophrenia


Input: However, when Pemt (-/-) mice were fed a choline-deficient diet steatohepatitis and liver failure developed after 3 days.

Pemt

liver failure


Input: Activation-induced cytidine deaminase in antibody diversification and chromosome translocation.

Activation-induced cytidine deaminase

chromosome translocation


Input: Mutational analyses of epidermal growth factor receptor and downstream pathways in adrenocortical carcinoma.

epidermal growth factor receptor

adrenocortical carcinoma

epidermal growth factor receptor

adrenocortical carcinoma


Input: FSTL1, AV722783, SLC15A1, DDX17, ORC2L and PKMYT1 were found to be potential ccRCC metastasis-associated novel genes, according to expression patterns in cultures and tumor tissues.

tumor


Input: This study evaluates the possible role of two described bi-allelic polymorphisms in the TNF locus [a G to A transition at position-308 in the 5'-promoter region of the TNF-alpha gene and an NcoI restriction fragment length polymorphism (RFLP) in the first intron (+ 252A/G) of the LT-alpha (TNF-beta) gene] in atopic diseases in a Czech population.

TNF-alpha

atopic


Input: Expression of histamine and histamine receptors (H1R, H2R) was analysed on protein level (immunohistochemistry/immunofluorescence (IF)) as well as mRNA level (reverse transcription-PCR (RT-PCR) in surgical specimen of patients (n = 101) having undergone resection for sigmoid diverticulits (n = 57 complicated diverticulitis/n = 44 non-complicated diverticulitis).

diverticulitis


Input: To investigate in vivo inner and outer retinal microstructure and effects of structural abnormalities on visual function in patients with retinal degeneration caused by ABCA4 mutations (ABCA4-RD).

retinal degeneration


Input: The term HNPCC has also been applied to clinical scenarios in which CRCs with DNA microsatellite instability are diagnosed but in which there is no vertical transmission of an altered DNA mismatch repair (MMR) gene.

MMR

microsatellite instability


Input: Melatonin attenuates oxidative stress and the associated memory impairment induced by klotho deficiency via signaling interaction between the MT2 receptor and ERK-and Nrf2-related antioxidant potential.

klotho

memory impairment

klotho

memory impairment


Input: We found that hsp90alpha is secreted in exosomes in invasive cancer cells and it contributes to their invasive nature.

invasive cancer


Input: We characterized the contribution of the local hypoxic environment to VEGF and OPN production by monocytic cells recruited to the synovium in JIA.

VEGF

hypoxic


Input: Whether TRAF1 polymorphisms confer increased risk for primary biliary cirrhosis (PBC), an autoimmune liver disease which can co-exist with RA, is unknown.

primary biliary cirrhosis


Input: Patients with recurrent fungal infections in the absence of known immunodeficiencies should be analyzed for CARD9 gene mutations as the cause of fungal infection predisposition.

CARD9 gene

fungal infection


Input: Here, we have analyzed four MDM families for mutations in SLURP-1.

MDM

MDM


Input: Hcrtr1 and 2 signaling differentially regulates depression-like behaviors.

depression

depression


Input: This study aimed to compare the EGFR and KRAS genotyping methods developed by the IFCT/ERMETIC2 network platforms in two blind panels: 25 samples of serial dilutions of cell line DNA (20 centers) and 74 FFPE lung tumor samples (10 centers).

EGFR

blind


Input: Both mRNA and protein expression levels of CK7 appear significantly higher in chromophobe RCC compared to oncocytoma (p & lt; 0. 001).

oncocytoma

oncocytoma


Input: Successful self-cleavage of 2A-peptide induced synergistic antitumor effect in the liver of H-ras12V, the HCC model mice, by simultaneous activation of LETM1 (Leucine zipper/EF hand-containing transmembrane-1) and CTMP (carboxyl-terminal modulator protein).

HCC

HCC


Input: By using FISH and long-range PCR approaches, we have precisely mapped the breakpoints associated with this translocation in a gene-free region in chromosome 3 and in the third intron of the ZNF407 gene in chromosome18.

ZNF407 gene

translocation


Input: The dissociation between loss of expression of APC and accumulation of beta-catenin in the nucleus suggests that inactivation of both alleles of the APC gene may not be required for beta-catenin nuclear accumulation in colonic adenomas.

APC gene

dissociation


Input: After acute hypoxia at P10, Cx30 protein levels were increased at 30min after reoxygenation, at P11 and at P14, and then returned to control levels.

hypoxia


Input: Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.

retinal degeneration


Input: Combining two novel anticancer agents, kallistatin targeting tumoral vascularization and meloxicam targeting cell proliferation and apoptosis, warrants investigation as a therapeutic strategy to combat HCC.

kallistatin

HCC

kallistatin

HCC


Input: Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD).

ERG

abnormalities


Input: Arr3 displayed a robust translocation to agonist-stimulated GLP-1R but not to GIPR.

translocation


Input: In this study, we examined the inhibitory effects of apelin on transforming growth factor-β1 (TGF-β1)-induced EMT in HK-2 cells, and evaluated its therapeutic efficacy in mice with complete unilateral ureteral obstruction (UUO).

EMT

ureteral obstruction


Input: Epithelial-mesenchymal transition (EMT), an important process during embryonic development, is reportedly exploited during tumour progression.

EMT

tumour progression


Input: We sought evidence of EBV infection in thymuses from patients with myasthenia gravis (MG), an autoimmune disease characterized by intrathymic B-cell activation.

B-cell activation

myasthenia gravis


Input: It is perhaps more likely that a phenotype identical to HGPPS can be caused by abnormalities in ROBO3 splice variant expression, by mutations of a gene other than ROBO3, or by some environmental or epigenetic factor (s) inhibiting the action of ROBO3 or its protein product in the developing brainstem.

abnormalities


Input: LOUCY cells revealed chromosomal deletion at 5q31, which targets the downstream regulatory region of the PRD homeobox gene PITX1, removing a STAT1 binding site.

PRD

chromosomal deletion


Input: Furthermore, the expression level of FOXC2 and microvessel density (MVD) were detected by indirect double-labeled immunofluorescence and laser scanning confocal microscopy in cervix tissue samples, 86 of cervical carcinoma, 54 of cervical intraepithelial neoplasia (CIN), and 30 of normal cervix as controls.

MVD

cervical intraepithelial neoplasia


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

CCNH

non-small cell lung cancer

CCNH

non-small cell lung cancer


Input: Our data show that TOD is caused by this single recurrent mutation in the FLNA gene.

FLNA

TOD

FLNA

TOD


Input: Longer term elevation of RCAN1-1L levels (for at least 16 months), however, can lead to the first signs of neurodegeneration.

neurodegeneration


Input: Impaired intercellular adhesion and epidermal blistering also occur in individuals with pemphigus (which is due to autoantibodies directed against desmosomal proteins) and in patients with Darier disease (DD, MIM 124200), which is caused by mutations in a gene encoding a sarco/endoplasmic reticulum (ER)-Golgi calcium pump.

MIM

adhesion


Input: High levels of cyclin D1 mRNA (cyclin D1/TBP [TATA box binding protein] ratio > 95) were found exclusively in the presence of a t (11; 14) translocation (11/48 cases; P <. 00001).

TBP

translocation


Input: Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

PMVK

Linear Porokeratosis

PMVK

Linear Porokeratosis


Input: The pregnancy complications preeclampsia, gestational hypertension, small for gestational age infants (SGA) and pre-term birth (PTB) affect approximately 21% of all pregnancies.

PTB

small for gestational age


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

cardiac hypertrophy

cardiac hypertrophy


Input: The association between pancreatitis and the-308G > A and-238G > A polymorphisms in TNF-α gene has been analyzed in several studies, but results have been inconsistent.

α gene

pancreatitis


Input: Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

seizures

seizures


Input: This protein has been attributed many cellular functions, including energy generation, stress response, carcinogenesis and involvement in neurodegenerative diseases, which is well documented by many names it has been given (CSA, MOT, MOT2, GRP75, PBP74, GRP-75, HSPA9B, MGC4500, MTHSP75, and mortalin).

GRP

neurodegenerative diseases


Input: Common peroneal nerve palsy following TNF-based isolated limb perfusion for irresectable extremity desmoid tumor.

TNF

desmoid tumor

TNF

desmoid tumor


Input: We investigate effects on neuropeptide Y (NPY) and calcitonin gene-related peptide (CGRP) like immunoreactivity (LI) in 10 brain regions as these neuropeptides are affected by antidepressants and are altered in cerebrospinal fluid of depressed patients.

calcitonin

depressed

calcitonin

depressed


Input: Collectively, our data suggests that the novel adipokine omentin-1 may contribute to the therapeutic strategy for hepatocellular carcinoma.

omentin

hepatocellular carcinoma


Input: Under hypoxic conditions, VEGF increased Dll4 expression in the tumor vasculature.

VEGF

hypoxic


Input: Our data indicate that RET and EDNRB mutations have a role in the aetiology of some sporadically occurring HSCR.

RET

HSCR

RET

HSCR


Input: Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions.

MIM

skin lesions


Input: The severity of tubular atrophy, tubular casts, and interstitial fibrosis increased significantly in Nr4a1 (-/-) rats and was accompanied by a large increase in immune cell infiltration, predominantly macrophages and to a lesser extent T cells and B cells.

tubular atrophy


Input: We also found that some myeloma cell lines (XG-4, XG-6, and XG-7) an fresh myeloma cells from 3 of 6 patients produced an autocrine IL-10 and that these cells constitutively expressed LIFR.

LIFR

myeloma


Input: CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum.

CDG Ie

CDG Ie


Input: Circulating WISP1 and WISP1 subcutaneous adipose tissue expression were regulated by weight changes in humans and mice.

weight changes


Input: As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration.

retinal degeneration


Input: We used recombinant sgp130Fc protein and recently generated transgenic mice expressing high levels of sgp130Fc to discriminate between classic and trans-signaling in vivo, and demonstrated that IL-6 trans-signaling is critically involved in generation and maintenance of several inflammatory and autoimmune diseases including chronic inflammatory bowel disease, rheumatoid arthritis, peritonitis and asthma, as well as inflammation-induced colon cancer.

peritonitis


Input: Herein we have examined whether the promoter methylation of DAPK gene or down-modulation of DAPK is associated with gastric atrophy.

DAPK

gastric atrophy


Input: Tumor cell migration is increased through the sequential induction of HIF-1α and VEGF under hypoxic conditions.

VEGF

hypoxic


Input: Expression of autophagosome marker LC3B-II and mitochondria-specific autophagy, mitophagy, regulator Park2, were significantly increased in the retinas of Abca4 (-/-) Rdh8 (-/-) mice after light exposure, suggesting involvement of autophagy and mitophagy in the pathogenesis of light-induced retinal degeneration.

retinal degeneration


Input: In some cases they arise from low-grade follicular lymphomas carrying the t (14; 18) translocation, an event that leads to the overexpression of the BCL-2 gene product.

BCL-2 gene

translocation


Input: There was hyperprolactinemia with pituitary microadenoma in sella MRI.

MRI

hyperprolactinemia


Input: The amphotropic retroviral vector TFG-hIL4-Neo-Tk was then used to infect human primary glioma cultures and skin-derived fibroblasts.

TFG

glioma


Input: Glucocorticoid (GC) sensitivity depends on glucocorticoid receptor (GR) and heat shock proteins (Hsps).

glucocorticoid receptor

shock


Input: We propose a novel mechanism whereby homozygous expression of the LonP1-P761L variant leads to PDH deficiency and energy metabolism dysfunction, which promotes severe neurologic impairment and neurodegeneration.

PDH deficiency

PDH deficiency


Input: Attachment of invasive breast cancer cells (MDA-MB-231) to human umbilical vein endothelial cells induced tyrosine phosphorylation of VE-cad, dissociation of β-catenin from VE-cad, and retraction of endothelial cells.

β-catenin

cad


Input: MELAS syndrome in a patient with a point mutation in MTTS1.

MELAS syndrome

MELAS syndrome


Input: In this study, we examined cell migration, adhesion (a step in migration), and Matrigel invasion of U87 and LN229 glioma cells when their mitochondria were inhibited with sodium azide or limited by 1% O (2).

glioma


Input: Recombinant IL-6, but not IL-10, TNF-alpha, and IFN-alpha, stimulated the secretion of IL-10 by colon tumor cells.

IFN-alpha

colon tumor


Input: It also decreased cytochrome c release into the cytoplasm and reduced upregulation of p53 and Bax after ischemia.

ischemia

ischemia


Input: TIMP4-deficient mice, however, showed exacerbated diastolic dysfunction, sustained elevation of membrane-type 1 MMP activity, and worsened myocardial hypertrophy and fibrosis.

hypertrophy


Input: Diagnosis of a poorly differentiated synovial sarcoma was offered and confirmed with a positive t (X; 18) SYT-SSX2 translocation.

translocation


Input: PTEN (phosphatase/tensin homolog on chromosome 10)-induced putative kinase 1 (PINK1), a putative kinase that is mutated in autosomal recessive forms of PD, is also implicated in sporadic cases of the disease.

tensin

sporadic


Input: Conformational studies at mild acidic pH and moderate guanidium concentrations showed the formation of a molten-globule-like unfolding intermediate in all three variants, which do not reactivate to the native state and strongly interact with Hsc70 and Hsp90 chaperones.

mild


Input: An association study was performed to elucidate the role of the serotonin transporter (5-HTT) gene as a susceptibility factor for autism as treatment of patients with antidepressant drugs which selectively target 5-HTT reduced autistic or concomitant symptoms, such as repetitive behavior and aggression, and ameliorate language use.

aggression


Input: We aimed to evaluate association of cholesteryl ester transfer protein (CETP) and apolipoprotein (APO) E gene variants with asymptomatic obesity.

APO

obesity


Input: Our data suggest that beta-cell proliferation occurs in adult obese humans in an attempt to expand beta-cell mass to compensate for insulin resistance, and that the FoxM1 transcriptional program plays a key role in this process.

insulin resistance


Input: Collectively, these studies suggest that in addition to the p42/p44 MAPK pathway, other signaling pathways are also important for PR transcriptional activity in breast cancer cells.

breast cancer


Input: In the NEWMOOD cohort polymorphisms of the genes of the serotonin transporter, 5-HT1A, 5-HT1B and 5-HT2A and endocannabinoid CB1 receptors, tryptophan hydroxylase, CREB1, BDNF and GIRK provide evidence for the involvement of these genes in the development of depression.

depression

depression


Input: Indeed, recent work has shown that loss of PD-L1 signalling in the gut breaks CD8 (+) T cell tolerance to self antigen and leads to severe autoimmune enteritis.

enteritis


Input: Plasma ACTH did not increase after hemorrhage 30 min or 4 days after NTS lesions when compared with the other groups (sham, sham with hexamethonium, and missed lesion) and to prelesion controls.

ACTH

hemorrhage

ACTH

hemorrhage


Input: A male child with metabolic acidosis was diagnosed as having dihydrolipoamide dehydrogenase (E3) deficiency.

dihydrolipoamide dehydrogenase

E3) deficiency

dihydrolipoamide dehydrogenase

E3) deficiency


Input: In Ewing' s sarcoma family tumors (ESFTs), the proto-oncogene EWS that encodes an RNA-binding protein is fused by chromosomal translocation to the gene encoding one of the E-twenty six (ETS) family of transcription factors, most commonly friend leukemia virus integration 1 (FLI-1).

RNA-binding protein

chromosomal translocation


Input: Impairment of the Pin1/E2F1 axis in the anti-proliferative effect of bortezomib in hepatocellular carcinoma cells.

hepatocellular carcinoma


Input: Thus, molecular mimicry between a pathogen and neurons can induce a CD8 T cell-mediated neurological disease, with its severity being influenced by the frequency of specific CD8 T cells, and its induction, but not its symptomatic phase, requiring the intracerebral presence of the pathogen.

neurological disease


Input: Therefore, using the expression of suppressors of cytokine signaling (SOCS)-1 and-3 as indices of gp130 signal transduction, we performed a detailed in situ hybridization seizure time-course study in the adult rat hippocampus.

SOCS

seizure


Input: Of the 45 rats, 24 with-dp/dtmax & lt; or = 700 mmHg/s (1 mmHg = 0. 133 kPa) developing diabetic cardiomyopathy were grouped as follows: 7 treated with double distilled H2O (ip) were included in control group 2 (con2); other 8 treated with AT2 agonist (CGP42112A, ip) were included in experimental group1 (exp); 9 treated with astragalus (po) constituted experimental group 2 (exp2).

diabetic cardiomyopathy

diabetic cardiomyopathy


Input: Gene expression analysis revealed that CDK6 mRNA expression is higher than normal cerebellum in fifteen out of sixteen medulloblastoma patient samples.

medulloblastoma

medulloblastoma


Input: We identified 5 RS-SCID patients without RAG gene mutations, 4 of them with Artemis gene mutations.

Artemis

RS-SCID

Artemis

RS-SCID


Input: However, the prevalence of heterozygous NCC mutations and their association with blood pressure in children have not yet been studied.

NCC

blood pressure


Input: Here we show the consequences of germline final-exon-truncating mutations in REST for organismal development and the association with the HGF phenotype.

REST

HGF

REST

HGF


Input: Multiplex sequencing for EZH2, CD79B, and MYD88 mutations using archival cytospin preparations from B-cell non-Hodgkin lymphoma aspirates previously tested for MYC rearrangement and IGH/BCL2 translocation.

translocation


Input: Moreover, the defective hematopoiesis observed in patients with DBA associated with ribosomal protein haploinsufficiency could be partially overcome by increasing GATA1 protein levels.

DBA

DBA


Input: Finally, we demonstrate that VEGF up-regulation may occur at the RNA level since no gene amplification is observed; conversely, in in vitro models such as the embryonal stem cell line NTERA-2 and the choricarcinoma JEG-3 cell line, VEGF (but not PIGF) mRNA expression is regulated by hypoxic stress.

VEGF

hypoxic


Input: KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

Andersen syndrome

Andersen syndrome


Input: Similar to VEGF, EG-VEGF possesses a HIF-1 binding site, and its expression is induced by hypoxia.

VEGF

hypoxia


Input: Treatment of AβPPLon mice with E64d, a cysteine protease inhibitor of CatB, also reduced brain pGlu-Aβ (3-42), flAβ (1-40/42), and pGlu-Aβ plaque load.

CatB

plaque


Input: Interestingly, Ednrb-null rats in the LE and F344 genetic background did not show these abnormalities.

Ednrb

abnormalities


Input: The fusion oncoproteins in many other translocation-associated sarcomas incorporate transcription factors from the ATF/cAMP response element binding or E26 families, which potentially form heterodimers with ATF2 to regulate transcription.

translocation


Input: Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures.

TBC1D24 gene

myoclonic seizures


Input: In contrast, combined IL6/VEGF knockdown not only showed enhanced reduction of tumor growth and angiogenesis but also significantly prevented invasion of residual tumor cells.

VEGF

residual tumor


Input: We found that AAV-mediated overexpression of NPY in the DMH of lean rats increased food intake and body weight, and exacerbated high-fat diet-induced obesity.

NPY

body weight


Input: This intricacy confers an ability to integrate a variety of stimuli, thereby regulating NCC transport activity and ultimately blood pressure.

NCC

blood pressure


Input: Antibodies against galactosyl ceramide (galactocerebroside, or GalC) inhibited viral internalization and infection in two CD4-negative cell lines derived from the nervous system: U373-MG and SK-N-MC.

nervous system


Input: We conclude that the CFH Y402H polymorphism associates with inflammation, visual impairment, and cardiovascular mortality in the elderly population at large.

CFH

inflammation


Input: In this study, using immunohistochemistry and a microsatellite instability assay, we analyzed the incidence of MMR gene abnormalities in 79 sebaceous lesions from 70 patients, 26 of whom also had an extracutaneous visceral neoplasm.

MMR

microsatellite instability


Input: BIK interactive total feedback terms included mitochondrial envelope, endomembrane system, integral to membrane, Golgi apparatus, cytoplasm, nucleus, cytosol, intracellular signaling cascade, mitochondrion, extracellular space, inflammation, immune response, apoptosis, cell differentiation, cell cycle, regulation of cell cycle, cell proliferation, estrogen-responsive protein Efp controls cell cycle and breast tumors growth, induction or regulation of apoptosis based on integrative GO, KEGG, GenMAPP, BioCarta and disease databases in low normal adjacent tissues of lung adenocarcinoma.

BIK

inflammation


Input: The combination of cytogenetic, FISH, and molecular analysis provides a highly sensitive strategy for detection of 11q23/MLL gene rearrangements in childhood M4-M5 leukemias.

FISH

leukemias


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

thrombosis

thrombosis


Input: We propose the following clinical diagnostic criteria for AFAP: a dominant mode of inheritance of colorectal adenomatosis and < 100 colorectal adenomas at age 25 or older.

AFAP

adenomatosis


Input: For the VHL gene we found increased MetI in tumors as compared with normal adrenals (57% vs. 27%; P < 0. 001), in malignant vs. benign tumors (63% vs. 55%; P < 0. 05), and in PGL vs. PCC (66% vs. 55%; P < 0. 0005).

VHL gene

benign tumors


Input: Even in these risk groups, the cost-benefit ratio of selective screening is unfavorable, as today at most 70% of the hereditary thrombophilias can be diagnosed by laboratory analysis, and only very few of the patients will actually experience a thrombotic event: only 3 of 1000 carriers of APC-resistance will suffer from thrombosis during oral contraception.

APC-resistance

thrombotic

APC-resistance

thrombotic


Input: The results showed that, compared with benign liver diseases and healthy controls, the levels of serum miR-182 and miR-331-3p were significantly increased in HCC patients, both P < 0. 001.

HCC

liver diseases


Input: Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant disorder characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukaemia (AML).

MIM

platelet disorder


Input: An imbalance between cysteine proteases and the cysteine protease inhibitor cystatin C (CST3) may exacerbate vascular remodeling through degradation of extracellular matrix proteins.

vascular remodeling


Input: Serum Fetuin-A was higher in NAFLD patients than in controls (P < 0 · 0001), independently of age, sex, BMI, insulin resistance, dyslipidemia, adiponectin, PNPLA3 I148M and ALT levels (OR 1 · 006 95% CI 1 · 003-1 · 11; P = 0 · 003).

insulin resistance


Input: Moreover, VEGF165 blocks SNP-induced Bcl-2 down-regulation as well as SNP-induced Bax translocation from the cytosol to the mitochondria.

translocation


Input: The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.

MCH

mean corpuscular volume


Input: We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy.


Input: Enhanced genomic instability has been recently reported in normal cells derived from BRCA1/2 mutation carriers when placed in vitro in non-physiological stress conditions.

genomic instability


Input: The reduction in CFH amount or its complement-modulating activity may lead to inadequate control of complement-driven inflammation at the outer retina.

CFH

inflammation


Input: We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD.

sporadic