Input: Expression of NAT1, TBC1D9, IL6ST, RABEP1, PLK1 and LRBA was elevated in carcinomas of males compared to those of females, in which ER status appeared to be related to expression.

carcinomas


Input: MSP results were as follows: loss of XAF1 expression was found in three of four esophageal cell lines with promoter region hypermethylation (completely methylated in KYSE30, KYSE70 and BIC1 cell lines and partially in TE3 cells); all nine cases of normal esophageal mucosa were unmethylated; and 54/72 (75. 00%) samples from patients with esophageal cancer were methylated, and 25/72 (34. 70%) matched adjacent tissues were methylated (75. 00% vs 34. 70%, χ (2) = 23. 5840, P = 0. 000).

MSP

esophageal cancer


Input: We used FISH to test for association between chromosome 17 segments and MYCN in eight neuroblastoma cell lines and two neuroblastoma primary tumors known to include hsrs.

FISH

neuroblastoma


Input: PU. 1 is highly expressed in leukemia cells, whereas RUNX1 is frequently inactivated by mutation or translocation.

translocation


Input: After observing that expression of two NR4A orphan nuclear receptors, NR4A3 and NR4A1, was altered by insulin in cDNA microarray analyses of human skeletal muscle, we studied whether these receptors could modulate insulin sensitivity.

insulin sensitivity

insulin sensitivity


Input: This case shows that disruption of ESR1 causes profound estrogen resistance in women.

estrogen resistance

estrogen resistance


Input: Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

erythrocytosis


Input: Our results would indicate that the MOG gene may play a significant role in schizophrenia in the Han Chinese.

MOG

schizophrenia

MOG

schizophrenia


Input: Pharmacologic targeting or genetic deletion of mitochondrial cyclophilin D protects from NSAID-induced small intestinal ulceration in mice.

mitochondrial cyclophilin D

ulceration

mitochondrial cyclophilin D

ulceration


Input: As tumour regression in our model resembles the targeted inhibition of EGFR in cancer therapy, our observations may provide molecular insights into the targeted inhibition and highlight the importance of immune response in tumour regression.

EGFR

regression


Input: Single 5-minute vorinostat (25 μm) topical application on the cornea following PRK significantly reduced corneal haze (P <. 008) and fibrotic marker proteins (α-smooth muscle actin and f-actin; P <. 001) without showing redness, swelling, or inflammation in rabbit eyes in vivo screened 4 weeks after PRK.

PRK

corneal haze


Input: We report here that the 518-nt long 5'-untranslated region (5'-UTR) of the GATA-4 mRNA, which is predicted to form stable secondary structures (-65 kcal/mol) such as to be inhibitory to cap-dependent initiation, confers efficient translation to monocistronic reporter mRNAs in cell-free extracts.

UTR

secondary


Input: Tnfa null (-/-) mice on a B6 background and B6. 129 Il-10 (-/-) mice were intercrossed with A/J mice and subjected to urethane carcinogenesis; lung tumor multiplicity was determined 20 weeks later.

lung tumor

lung tumor


Input: MUTYH-null mice are susceptible to spontaneous and oxidative stress induced intestinal tumorigenesis.

MUTYH

tumorigenesis


Input: We examined more than 300 granulomas and observed abundant expression of gamma interferon (IFN-gamma)-inducible chemokine mRNAs (CXCL9/monokine induced by IFN-gamma, CXCL10/IFN-gamma-inducible protein, and CXCL11/IFN-gamma-inducible T-cell alpha-chemoattractant) within solid and caseous granulomas, and there was only minimal expression in nongranulomatous regions of tissue.

IFN

granulomas


Input: The Hypertension Genetic Epidemiology Network (HyperGEN) Study of left ventricular hypertrophy characterized left ventricular mass, relative wall thickness (RWT), and aortic root diameter (ARD) with echocardiograms collected using a standardized protocol at four HyperGEN field centers.

ARD

left ventricular hypertrophy


Input: GBM secreted ATX can also have paracrine effects: ATX activity results in reduced ODC adhesion.

ATX

adhesion


Input: As inflammatory cytokines are involved in DSP, we addressed a role for inflammation in NRTI-SN by determining the alleles of immune-related genes carried by patients with and without NRTI-SN.

DSP

inflammation


Input: The number of genes with expression affected more than twofold increased, from 213 in iron deficiency and 73 in HRI deficiency, to 3135 in combined iron and HRI deficiencies.

HRI

iron deficiency


Input: We also report that C10 is effective at inhibiting human pancreatic cancer and malignant melanoma tumor growth in vivo in nude or severe combined immunodeficient mice and associate this with inhibition of signal transducers and activators of transcription 3 activation.

pancreatic cancer


Input: A diagnosis of primary infection with parvovirus B-19 was made in view of the association of reticulocytopenia, together with anti-B19 IgM antibodies and positive serum results for viral DNA.

reticulocytopenia


Input: Dicer1, a key enzyme in miRNA biogenesis, was decreased by acute hypoxia but was later increased by HIF-1, rather than by the above-mentioned NF-κB subunits.

hypoxia


Input: In the present study, the potential of AST in controlling angiogenesis was further investigated with elaboration of the underlying molecular mechanism in human colon cancer cell and tumor xenograft.

AST

colon cancer


Input: We explored the relationship between methylation of hMLH1 or hMSH2 promoter regions and its protein expression in both RER-positive and RER-negative gastric carcinomas.

RER

carcinomas


Input: Serum levels of SOD2 appeared statistically increased in OA patients when compared with healthy controls (p & lt; 0. 001).

OA

OA


Input: We also identified linkage disequilibrium (LD) between a WNT2 3' UTR SNP and our sample of autism-affected sibling pair (ASP) families and trios.

ASP

autism


Input: Strong expression of VEGF was evident in symptomatic patients (p < 0. 057), in high-degree stenosis (p = 0. 005), and in patients with ischemic infarct in brain scan (p = 0. 021).

VEGF

infarct


Input: These results do not provide a clear connection between protection of insulin sensitivity and HFD-induced adaptive changes in mitochondrial function or transcriptional responses but do not dismiss the possibility that elevated mitochondrial FAO in the HCR may play a protective role.

HCR

insulin sensitivity


Input: 179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA.

sporadic


Input: We investigated the respective contribution (in terms of cancer yield and stage at diagnosis) of clinical breast examination (CBE), mammography, ultrasound, and quality-assured breast magnetic resonance imaging (MRI), used alone or in different combination, for screening women at elevated risk for breast cancer.

MRI

breast cancer


Input: Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV2. 2.

CaV2. 2

cardiac arrhythmias


Input: The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern.

PAP

hydrometrocolpos


Input: Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.

FISH

chondrodysplasia punctata


Input: In this study, we identified a mutation in the PPO gene in a patient with VP and two unaffected family members.

PPO

VP

PPO

VP


Input: Furthermore, in an orthotopic nude mouse model of human gastric cancer, we found that the survival benefit was greater after Ad-RPL23/p53 treatment than after Ad-p53.

gastric cancer


Input: Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4.

bipolar disorder

bipolar disorder


Input: Expression of MMP-21 was detected by immunohistochemistry in a subset of macrophages of granulomatous skin lesions and in fibroblasts in dermatofibromas.

dermatofibromas

dermatofibromas


Input: YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis.

GPI

translocation


Input: We demonstrate that deletion or pharmacologic inhibition of RAGE prevents development of CS-induced emphysema.

RAGE

emphysema

RAGE

emphysema


Input: The genotypes of PAI-1 gene and beta fibrinogen gene were profiled by polymerase chain reaction-sequence length polymorphism (PCR-SLP) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) respectively.

SLP

fibrinogen


Input: We identified a canonical hypoxia-responsive element in the PTEN promoter, which regulates the transcription of this tumor suppressor protein in a TSC2-dependent manner.

hypoxia


Input: The aim of the present study is to examine whether polymorphic variants of the HTR1B gene are associated with alcohol dependence subtypes or drinking-related behaviors in Chinese Han population.

HTR1B gene

drinking


Input: The mean values of plasma total nitrite and AM levels in the autistic group were significantly higher than control values, respectively (p & lt; 0. 001, p = 0. 028).

AM

autistic

AM

autistic


Input: CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.

CRF

CRF


Input: Mouse models of IGF-I and IGF-II deficiencies have phenotypes reminiscent of human SGA, including slow growth, insulin resistance, and mental dysfunction.

IGF-II

insulin resistance


Input: Transforming growth factor beta1 (TGF beta1) induces renal hypertrophy and fibrosis, and cytokines like tumor necrosis factor-alpha (TNFalpha), chemoattractant protein-1 (MCP-1), and regulated upon activation and normal T cell expressed and secreted (RANTES) mediate macrophage infiltration into kidney.

renal hypertrophy


Input: MMR status was assessed by testing of tumors for the presence or absence of hMLH1, hMSH2, and hMSH6 protein expression and for microsatellite instability (MSI).

MMR

microsatellite instability


Input: We investigated the genetic evolution of the NS5A region in the NS5A PKR-binding domain (NS5A-PKRbd) of patients with HCV 1b-related cirrhosis who subsequently developed or not hepatocellular carcinoma (HCC).

PKR

cirrhosis


Input: Interestingly, we observed a striking upregulation of four genes located immediately centromeric to the break point of the t (10; 11) (p12; q14) on 10p12 (COMMD3 (COMM domain containing 3), BMI1 (B lymphoma Mo-MLV insertion region 1 homolog), DNAJC1 (DnaJ (Hsp40) homolog subfamily C member 1) and SPAG6 (sperm associated antigen 6)).

COMM domain containing 3

lymphoma


Input: In conclusion, since HSL overexpression inhibits cardiac steatosis and fibrosis by apparently hydrolyzing toxic lipid metabolites, cardiac HSL could be a therapeutic target for regulating diabetic cardiomyopathy.

HSL

diabetic cardiomyopathy


Input: Immunohistochemistry for T-cell CD4/CD8, MUC1, MUC4, MUC17, and ECA and SNA lectins staining was performed on sections from the ulcer margins.

ulcer


Input: However, it remains largely unclear whether DJ-1 is involved in the development of peritoneal metastasis by gastric carcinoma.

gastric carcinoma


Input: Moreover, using rottlerin to inhibit PKC delta or transfection experiments to overexpress it, we show that retinoic acid acts through this enzyme to induce MAP2 expression and to increase p67 (phox) membrane translocation leading to NADPH oxidase activation.

translocation


Input: The chromosomal translocation results in rearrangement of the RUNX1 gene at 21q22.

RUNX1 gene

chromosomal translocation


Input: The relationships between VLDL concentrations and composition and changes in hepatic lipase and lipoprotein lipase activities were determined in rats, during the consumption of two low protein diets (2% casein or 5% gluten) (protein malnutrition) for 28 d, followed by the refeeding of a balanced diet for 14 d (15% casein) (refeeding).

lipoprotein lipase

protein malnutrition


Input: These findings suggest that CD4 + CD25 + Tr cells and possibly other regulatory T-cell populations do exist and may play regulatory roles in periodontal diseases.

periodontal diseases


Input: These findings warrant further evaluation of the possible therapeutic use of Gas6 inhibition for prevention of thrombosis.

thrombosis

thrombosis


Input: Multivariate regression analysis showed that patient age, height and CYP2C9, VKORC1 and APOE genotypes significantly contributed to warfarin dose requirement (R = 57%).

height


Input: This study investigates whether microsatellite instability (MSI) due to defects of the mismatch repair (MMR) system could be associated with response to cisplatin-based neoadjuvant chemotherapy (NACT) and if cisplatin exposure could select MSI-positive cell clones in cervical cancer.

NACT

microsatellite instability


Input: VEGF expression is regulated by hypoxia and cytokines, including insulin-like growth factor-1 (IGF-1).

VEGF

hypoxia


Input: In mice, prenatal alcohol exposure induced a reduction of cortical vascular density, loss of the radial orientation of microvessels, and altered expression of VEGF receptors.

VEGF

prenatal alcohol exposure

VEGF

prenatal alcohol exposure


Input: Increased proliferation, elevated synthesis of extracellular matrix, particularly collagen, and reduced levels of matrix metalloproteinases seem to contribute to the pathogenesis of gingival overgrowth in HGF patients.

HGF

gingival overgrowth


Input: Among the tested samples, 25 were positive for the chromosomal translocation t (12; 21), encoding the fusion gene translocation ETS-like leukemia/acute myeloid leukemia 1 (TEL/AML1).

chromosomal translocation


Input: The results showed that U87 cells and human glioma tissue expressed PAR2.

glioma


Input: Polymorphism of Nrf2, an antioxidative gene, is associated with blood pressure and cardiovascular mortality in hemodialysis patients.

blood pressure


Input: Rescuing nerve injury-induced reduction of Kv1. 2 in the injured L5 DRG attenuated the development and maintenance of SNL-induced pain hypersensitivity without affecting acute pain and locomotor function.

Kv1. 2

acute pain


Input: However, HBP/vigilin was detected in cardiac myocyte foam cells of an apoE-deficient mouse, demonstrating that HBP/vigilin expression can occur independently of apoE.

vigilin

foam cells


Input: Although the pathogenesis of seborrhoeic dermatitis remains to be elucidated, expression of cytotoxicity-activating ligands (MICA), recruitment of NK cells, and a local pro-inflammatory microenvironment may facilitate the development of tissue injury.

MICA

seborrhoeic dermatitis


Input: Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene SUZ12 functions as tumour suppressor in PNS tumours, high-grade gliomas and melanomas by cooperating with mutations in NF1.

gliomas

gliomas


Input: We have recently reported five patients with bilateral adrenocortical hyperplasia (BAH) and Cushing' s syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA).

PRKACA

adrenocortical hyperplasia


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

neointima formation

neointima formation


Input: These data imply that only high affinity interactions between the integrin alpha4beta1 on melanoma cells and VCAM-1 on activated endothelial cells may enhance the metastatic capacity of human beta2/beta3-negative melanoma cells.

melanoma


Input: Here, we further elucidated the role of 14-3-3 protein in apoptosis of human glioma U251 and U87 cells by global inhibition of 14-3-3 functions with a general 14-3-3 antagonist, difopein.

glioma


Input: We evaluated the effects of DNA-binding small molecules on hypoxia-inducible transcription of VEGF.

VEGF

hypoxia


Input: Finally, we show that NMS-873, a small molecule inhibitor of VCP, is a potent HCMV antiviral with potential as a novel host targeting therapeutic for HCMV infection.

VCP

HCMV infection

VCP

HCMV infection


Input: We observed a > 1 log reduction of HIV-1 viral load, associated with more than hundred fold reduction of CCL2 expression at day 3 of prednisolone treatment.

viral load


Input: Notably, long-term treatment of cells with Wnt3a induces the generation a frequent RUNX1-ETO translocation event.

translocation


Input: Associations of the UCP2 gene locus with asymptomatic carotid atherosclerosis in middle-aged women.

UCP2 gene

asymptomatic


Input: Our data suggest that LKB1/STK11 may contribute to tumorigenesis in a small fraction of malignant melanomas.

tumorigenesis


Input: We previously reported a 5' rearrangement of the BCL2 locus in a t (18; 22) variant translocation found in a lymphocytic lymphoma.

translocation


Input: The present study investigated the role of CTLA-4 + 49 A/G, CTLA-4 (AT) (n) 3' UTR, TNF-α-308G/A and TNF-α-238G/A polymorphisms as a susceptibility marker for recurrent miscarriage (RM).

recurrent miscarriage


Input: To investigate the genetic basis of late-onset, familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A1 and COL8A2 genes, in which mutations have been associated with both early and late-onset, familial and sporadic FECD.

sporadic


Input: KBP expression directly affected neurite growth in a neuron-like cell line (human neuroblastoma SH-SY5Y), in keeping with the central (polymicrogyria) and enteric (HSCR) neuronal developmental defects seen in GOSHS patients.

KBP

GOSHS

KBP

GOSHS


Input: The involvement of STRAD in 42 PJS associated tumours (sporadic lung, colon, gastric, and ovarian adenocarcinomas) was studied using loss of heterozygosity (LOH) analysis of eight microsatellite markers on chromosome 17, including TP53, BRCA1, and STRAD markers.

STRAD

sporadic


Input: Interaction with CCNH/CDK7 facilitates CtBP2 promoting esophageal squamous cell carcinoma (ESCC) metastasis via upregulating epithelial-mesenchymal transition (EMT) progression.

CCNH

metastasis


Input: Epithelial-mesenchymal transition (EMT) is a key process in tumor progression and metastasis.

EMT

tumor progression


Input: In our study, medication-free subjects with fully remitted major depression underwent a paradigm of catecholamine depletion, via use of the tyrosine hydroxylase inhibitor alpha-methylparatyrosine.

tyrosine hydroxylase

major depression

tyrosine hydroxylase

major depression


Input: As for genetic alterations for LOH or RER on TP53 and D17S855, 2 (1 borderline tumor and 1 carcinoma) of 14 cases and 4 (1 borderline tumor and 3 carcinomas) of 12 cases, respectively, showed genetic heterogeneities in different histologic areas.

RER

carcinomas


Input: In humans, genomewide association studies have identified single nucleotide polymorphisms (SNPs) in the GIPR gene that are strongly associated with body mass index (BMI); however, it is not clear whether genetic variations in the GIP gene are involved in the development of obesity.

GIP gene

body mass index


Input: Moreover, in an in vitro study, ACE2 activation prevented the hypoxia-induced cell death and upregulation of HMGB1 in adult cardiomyocytes.

hypoxia


Input: MAdCAM-1 antisense oligonucleotides significantly suppressed the development of trinitrobenzene sulfonate colitis clinically and histopathologically compared with controls.

colitis

colitis


Input: In conclusion, we have identified a possible molecular mechanism for PC-1 overexpression that confers an increased risk for insulin resistance-related abnormalities.

abnormalities


Input: LC3 expression inversely correlated with depth of invasion, lymph node metastasis, lymphatic invasion, MVD, VEGF-A expression, and poor prognosis.

lymph node metastasis


Input: Real-time PCR was performed to detect the expression of RKIP mRNA in 126 pairs of lung tumor tissues (TT) and surrounding normal tissues (sNT).

RKIP

lung tumor


Input: In the subgroup of hormone receptor (HRec)-negative patients, BRCA1-associated patients (n = 20) had a worse RR (OR, 20% vs 42%, respectively; PD, 70% vs 26%, respectively; P = 0. 03) and a shorter PFS (1. 8 vs 3. 8 months; P = 0. 004) compared with sporadic patients (n = 19).

hormone receptor

sporadic


Input: These findings suggest that Rb inactivation contributes to tumor progression due to not only loss of cell proliferation control but also conversion to an invasive phenotype and that the inhibition of EMT is a novel tumor suppressor function of Rb.

EMT

tumor progression


Input: mRNA and protein expression and tissue distribution of P-gps, MRPs, OATP2 and NTCP were assessed in HCC and peritumorous non-neoplastic tissue by reverse transcription polymerase chain reaction, Western blotting and immunohistochemistry, respectively.

HCC

non-neoplastic


Input: In light of the recent surge in reported infections we have developed asymmetric five-primer reverse transcription loop-mediated isothermal amplification (RT-LAMP) assays for detection of MERS-CoV.

LAMP

infections


Input: When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168).

MIM

neuropathy


Input: Using experimental tumors on the chick chorioallantoic membrane (CAM), we observed that STC2 expressing cells show signs of emigration from the solid tumor and destroy blood vessels of the CAM, giving rise to massively bleeding tumors.

bleeding


Input: The ERK1/2 signaling pathway plays an important role in the early stage of reactive astrogliosis in mice with pilocarpine-induced SE.

astrogliosis

astrogliosis


Input: Co-amplification of a novel cyclophilin-like gene (PPIE) with L-myc in small cell lung cancer cell lines.

PPIE

small cell lung cancer


Input: The model contained 13 single-nucleotide polymorphisms (from genes AGTR1, ALOX15, INSR, PRKAB1, IL1R2, ESR2, KCNK1, FBLN5, PPARA, VEGFA, PON1, TDRD6, PLA2G7, and 1 ancestry informative marker) and 5 clinical variables (sex, age, weight, smoking, and diabetes mellitus) and achieved 85% predictive accuracy, as measured by area under the receiver operating characteristic curve.

weight


Input: Here we report the clinical and molecular consequences of a particular mutation (p. S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation.

growth retardation


Input: Fourteen Japanese patients with serologically verified NMOsd, 17 patients with multiple sclerosis (MS), and 37 healthy controls were assessed with the Rao' s Brief Repeatable Battery of Neuropsychological Tests (BRBN).

Rao' s

multiple sclerosis


Input: The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73).

adhesion


Input: Since these patients are characterized by insulin resistance and abnormal first-phase insulin secretion, the putative role of islet amyloid polypeptide in the development of these abnormalities remains to be established.

islet amyloid polypeptide

insulin resistance


Input: The t (8; 21) chromosomal translocation produces AML1-ETO, an oncogenic fusion protein that compromises the function of AML1, a transcription factor critical for myeloid cell differentiation.

chromosomal translocation


Input: In addition, the chimeric transcript AML1/MDS1/EVI1 has also been detected in cells from one patient with the 3; 21 translocation as well as in one of our patients.

translocation


Input: Nicotine induces the up-regulation of the α7-nicotinic receptor (α7-nAChR) in human squamous cell lung cancer cells via the Sp1/GATA protein pathway.

GATA

squamous cell lung cancer


Input: Using microarray studies, we show that resveratrol reduced the expression of various prostate-tumor associated microRNAs (miRs) including miR-21 in androgen-receptor negative and highly aggressive human prostate cancer cells, PC-3M-MM2.

prostate-tumor

prostate-tumor


Input: Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

Wilson disease

Wilson disease


Input: Dysregulation of transactive response DNA-binding protein-43 (TDP-43) is closely linked to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U).

DNA-binding protein

amyotrophic lateral sclerosis


Input: A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

RET proto-oncogene

multiple endocrine neoplasia type 2B

RET proto-oncogene

multiple endocrine neoplasia type 2B


Input: Our findings suggest that ADRA2A plays an important role in depression therapy.

depression

depression


Input: Moreover, incisional hernia tissues showed increased MMP/TIMP ratios and de-regulated inflammatory signalling (tumor necrosis factor [TNFA] and interleukin [IL]-6 tended to increase, whereas aponeurosis TNFA receptors decreased).

TNFA

incisional hernia


Input: The 102 cases included patients with diffuse large B-cell lymphoma (DLBCL; n = 53), Hodgkin lymphoma (n = 9), polymorphic B-cell LPD (n = 20), reactive lymphadenitis (n = 11), peripheral T-cell lymphoma (PTCL; n = 4), composite lymphoma (n = 2), and follicular lymphoma (n = 3).

LPD

composite lymphoma


Input: This finding indicates that a major component of the abnormal temporal filtering responsible for the ERG abnormalities in XLRS occurs beyond the level of the early retinal nonlinearity that generates the harmonic components of the ERG response, and therefore is most likely postreceptoral in origin.

ERG

abnormalities


Input: Blockade of Rac1 activation with ectopic expression of an inactive mutant form of Rac1 (T17N) or Rac1 siRNA downregulated hypoxia-induced HIF-1α and VEGF expression.

VEGF

hypoxia


Input: Our results suggest that variations in the beta2-AR gene play an important role in the pathogenesis of sporadic LOAD, and interact with the epsilon4 allele to markedly increase the LOAD risk.

AR gene

sporadic


Input: In support of the likelihood that these effects explained FKBPL-mediated cell growth inhibition and sensitivity to endocrine therapies, FKBPL expression was correlated with increased overall survival and distant metastasis-free survival in breast cancer patients.

FKBPL

breast cancer

FKBPL

breast cancer


Input: These data demonstrate that the DRBP76/NF90 isoform facilitates VEGF expression by promoting VEGF mRNA loading onto polysomes and translation under hypoxic conditions, thus promoting breast cancer growth and angiogenesis in vivo.

VEGF

hypoxic


Input: In neuroendocrine prostate cancer mouse model derived allograft NE-10 tumors, δ-catenin showed an increased expression while Hes1 expression was diminished.

prostate cancer


Input: Furthermore, N41S, which is part of the signal we identified, is the first and only Wilson disease-causing missense mutation in residues 1-63 of ATP7B.

Wilson disease

Wilson disease


Input: Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.

Weaver syndrome

Weaver syndrome


Input: Rats with drebrin A in vivo knockdown displayed a stronger preference for a previous event due to perseverative behavior, impaired pre-pulse inhibition (PPI), increased locomotor activity, anxiety-like behavior, and an increased sensitivity to psychostimulant, suggesting behaviors related to schizophrenia.

drebrin A

schizophrenia

drebrin A

schizophrenia


Input: Western blotting demonstrated that NF-kappaB was more activated in CSF cells of patients with bacterial meningitis than in those of patients with aseptic meningitis.

NF-kappaB

aseptic meningitis


Input: bcl-2 is a marker for the translocation t (14; 18) (q32; q21) indicative of follicular B-cell lymphoma.

translocation


Input: Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).

alcoholism

alcoholism


Input: The results showed that CXCL12 could enhance the resistance of K562 cells to adriamycin (ADM) by increasing the expression of CXCR4, up-regulating the downstream PI3K/Akt pathway, and promoting translocation of NF-κB dimers into nucleus and subsequently decreasing the expression of apoptosis-related proteins in K562 cells.

ADM

translocation


Input: The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation.

absent speech


Input: Primary hyperparathyroidism (pHPT) is characterized by excessive production of parathyroid hormone (PTH) due to parathyroid adenomas while uremic secondary HPT (sHPT) is caused by parathyroid hyperplasia in response to renal failure.

HPT

parathyroid hyperplasia


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

woolly hair

woolly hair


Input: Inhibition of mTOR attenuates store-operated Ca2 + entry in cells from endarterectomized tissues of patients with chronic thromboembolic pulmonary hypertension.

chronic thromboembolic pulmonary hypertension


Input: The panic-inducing properties of pentagastrin are not specific for panic disorder patients, which might be indicative of a common neurobiological dysfunction in panic disorder and OCD at the level of CCK-B receptors.

CCK-B

OCD

CCK-B

OCD


Input: By immunohistochemistry, strongly IL-18-positive cells were distributed predominantly at the boundary zone of the granulomas.

granulomas


Input: We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls.

sporadic


Input: Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis.

UTR

parathyroid disorders


Input: A significant correlation was found between TE and mean corpuscular hemoglobin (MCH), A and mean corpuscular volume, and TE/A and mean cell hemoglobin concentration (MCHC) for the cases studied.

MCH

mean corpuscular volume


Input: Based on our findings, the LEPR Gln223Arg polymorphism could be considered a disease susceptibility modulating factor both in ischemic heart disease or dilated cardiomyopathy patients.

LEPR

dilated cardiomyopathy


Input: This speculation was partially confirmed by the detection of elevated bcl-2 expression levels in CD4 + peripheral blood T cells from patients with MM compared with those from patients with ASB or healthy donors.

MM

MM


Input: The reverse process, epithelium to mesenchyme transition (EMT), has been implicated in epithelial tumor progression and in the fibrosis that leads to end-stage kidney failure.

EMT

tumor progression


Input: The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype.

WD

WD


Input: Fifteen of the 20 genes were methylated in more than one of 21 primary breast cancers in Stages I or II, and especially, those of LOC346978, HOXD11, SIM1, PCDHGB6 and FLJ25161 were methylated in more than 10 cancers.

breast cancers

breast cancers


Input: Intratumoral treatment of BalbC/nude mice bearing subcutaneous U87 glioma xenografts with AdM40 at a total dose of 1. 2 x 10 (10) plaque-forming units (pfu) resulted in statistically significant tumor regression as compared with control animals either treated with AdN40 (p = 0. 01) or untreated animals (p = 0. 01).

glioma


Input: However, the relation between DDX3 and hypoxia has not been addressed in human tumors.

hypoxia


Input: AHR Activation Is Protective against Colitis Driven by T Cells in Humanized Mice.

AHR

Colitis

AHR

Colitis


Input: To analyse the K6a gene mutation in a sporadic Chinese patient with pachyonychia congenita type 1 (PC-1) and to explore the relationship between the genotype and phenotype of PC-1.

sporadic


Input: The achondroplasia class of chondrodysplasias comprises the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor receptor FGFR3 (ref.

TDI

achondroplasia


Input: The atypical late-onset phenotype may not be associated with ENPP1 abnormalities.

abnormalities


Input: We recently described a Japanese family with increased HDL levels and CETP deficiency due to a splicing defect of the CETP gene.

CETP

CETP deficiency

CETP

CETP deficiency


Input: Several groups have shown that FUS binds broadly to many transcripts in the brain and have also identified a plethora of putative splice targets; however, only ABLIM1, BRAF, Ewing sarcoma protein R1 (EWSR1), microtubule-associated protein tau (MAPT), NgCAM cell adhesion molecule (NRCAM), and netrin G1 (NTNG1) have been identified in at least three of four studies.

plethora


Input: The SCA8 phenotype manifested by cerebellar symptoms and atrophy corresponded to features of the autosomal dominant cerebellar ataxia type III (ADCA III).

ADCA

atrophy


Input: We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1 in 16 juvenile sporadic ALS patients.

FUS

sporadic


Input: Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations.

SLOS

SLOS


Input: Thus, we conclude that HEXIM1 could prevent RV hypertrophy, at least in part, via suppression of myocardial angiogenesis through down-regulation of HIF-1α and VEGF in the myocardium under hypoxic condition.

VEGF

hypoxic


Input: As shown previously for apoptosis induced by Ki-Ras (G12V), CNK1-induced apoptosis is suppressed by a dominant inhibitor of the mammalian sterile 20 kinases 1 and (MST1/MST2).

Ki-Ras

sterile


Input: Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk.

androgen receptor gene

sporadic


Input: Compared with the GG + GC group, men with the CC genotype had modestly, but not significantly, higher baseline levels of IL-6, C-reactive protein, or fibrinogen but showed a significantly greater fall in LDL cholesterol with statin treatment (P = 0. 036).

C-reactive protein

fall


Input: METHODS: This study investigated gene mutations in a Han Chinese family of lung cancer using the whole genome exome sequencing and subsequent Sanger sequencing validation and then confirmed alteration of prominin 1 (PROM1) and cyclic AMP-response element binding protein-regulated transcription co-activator2 (CRTC2) in blood samples of 343 sporadic lung cancer patients vs. 280 healthy controls as well as in 200 pairs of lung cancer and the corresponding normal tissues using PCR-restriction fragment length polymorphism and directed DNA sequencing of PCR products.

sporadic


Input: The aim of this study was to investigate whether common variants in genes CDKAL1, HHEX, ADCY5, SRR, PTPRD that predisposed to type 2 diabetes were also associated with reduced birthweight in Chinese Han population.

SRR

birthweight


Input: Available data sets suggest that RalA mRNA is also overexpressed in seminoma, glioblastoma, and carcinomas of the liver, pancreas, and prostate.

RalA

seminoma


Input: If PKR functions as a tumour suppressor in this system, its expression would be higher in chronic hepatitis tissues.

PKR

chronic hepatitis


Input: In the multivariate Cox regression model, HLA-B38 (p = 0. 021), HLA-C15 (p = 0. 025), HLA-C3 (p = 0. 014), DRB1 * 15 (p = 0. 005) and CT60 * G/G (0. 081) were significantly associated with OS with risk ratio of 0. 097 (95% CI, 0. 013-0. 709), 0. 387 (95% CI, 0. 169-0. 889), 0. 449 (95% CI, 0. 237-0. 851), 1. 948 (95% CI, 1. 221-3. 109) and 1. 484 (95% IC, 0. 953-2. 312) respectively.

regression


Input: Also one EVC2 gene mutation found in Weyers acrofacial dysostosis was novel.

Weyers acrofacial dysostosis

Weyers acrofacial dysostosis


Input: These results help to establish large-magnitude 5-HT (1A) receptor activation as a new molecular mechanism of profound, central analgesia and suggest that F 13640 may be particularly effective against pain arising from severe tonic nociceptive stimulation.

5-HT (1A

pain

5-HT (1A

pain


Input: Expression of CDK5/p35, interaction of CDK5/p35 with adhesion molecules, and its roles in cell-cell and cell-matrix adhesion were studied by reverse transcriptase-polymerase chain reaction, immunoblotting and aggregation/adhesion assays in primary cultured normal human keratinocytes from infant foreskins and a human keratinocyte HaCaT cell line.

adhesion


Input: In cultures of leukemia cells from 21 of 30 patients examined, cells with stellate morphology and cell fractions with CD1a (+) and/or CD83 (+) were present.

leukemia


Input: In other contexts, both the NF & #954; B (nuclear factor & #954; B) pathway and the ASK1 (apoptosis signaling kinase 1) pathway have been shown to be regulated by both Grx1 and Trx1, and both pathways have been implicated in cell death signaling in model systems of PD.

PD

PD


Input: We showed that hyperactivated STAT3 in esophageal carcinogenesis tissues correlated with the overexpression of octamer transcription factor-1 (Oct-1).

esophageal


Input: These and other data suggest that genes at 18q21. 3, other than BCL2 and FVT1, may be targets for translocation in certain subgroups of B-NHL.

translocation


Input: Alexander disease with occipital predominance and a novel c. 799G & gt; C mutation in the GFAP gene.

GFAP

Alexander disease

GFAP

Alexander disease


Input: The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes.

JS

JS


Input: The aim of this study was to evaluate the effect of VEGF-A expression on tumor growth, perfusion, and chemotherapeutic efficacy in orthotopic 9L gliosarcomas.

VEGF-A

gliosarcomas

VEGF-A

gliosarcomas


Input: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

11 beta-hydroxysteroid dehydrogenase type 2

apparent mineralocorticoid excess

11 beta-hydroxysteroid dehydrogenase type 2

apparent mineralocorticoid excess


Input: Whereas RAGE was equally reduced in thymic hyperplasia and epithelial tumors (p = 0. 003), HMGB1 was only elevated in malignancies (p = 0. 036).

RAGE

thymic hyperplasia


Input: Finally, the 5-FU-resistant cancer cells could be selectively ablated by treatment with miR-145.

resistant cancer


Input: Three hereditary gastric cancer syndromes have been described; hereditary diffuse gastric cancer (HDGC), familial intestinal gastric cancer (FIGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).

FIGC

gastric adenocarcinoma


Input: The mutant, AANAT knocked down C57BL/6J mice displayed significantly longer times of immobility (" depression ").

AANAT

depression

AANAT

depression


Input: Thus, RBP4 and PLAC8 may become new therapeutic targets for prostate cancer bone metastasis, in combination with OPG/RANKL/RANK pathway inhibition.

bone metastasis


Input: Furthermore, overexpression of Sp1 in highly invasive lung adenocarcinoma cells increased expression of E-cadherin, a suppressor of metastasis, and attenuated the translocation of β-catenin into the cellular nucleus that leads to tumor malignancy.

E-cadherin

translocation


Input: Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17) (p11. 2p12).

autism


Input: Our hypothesis was that in human mesothelioma without detectable NF2 mutations, regulators of NF2/merlin activity such as CPI-17 would be altered.

mesothelioma

mesothelioma


Input: Six differentially regulated genes (DRGs) (FOSL1, SRF, JUN, TFAP4, SOX9, and HLF) and 16 transcription factor-to-target differentially co-expressed gene links or pairs (TF2target DCLs) appear to be the key differential factors in MDD; in contrast, one DRG (PATZ1) and eight TF2target DCLs appear to be the key differential factors in SSD.

HLF

MDD

HLF

MDD


Input: Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

EOC

EOC


Input: Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness.

MIM

dysmorphic features


Input: We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis.

senataxin

senataxin


Input: Three cases presented a chromosomal translocation between CCND3 and the immunoglobulin heavy chain (IGH) loci, t (6; 14) (p21; q32).

chromosomal translocation


Input: In order to illustrate the effect of CXCR4 on glioma metastasis, we investigated the role of CXCR4 in U87 cells metastasis based on the CXCR4 silencing tumor cells.

glioma


Input: There were no relation of the expressions of hepatic IR and PI3K and the insulin resistance in adult male rats with IUGR.

insulin resistance


Input: In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.

WD

WD


Input: To investigate the cardioprotective role of CacyBP/SIP in cardiomyocytes, a hypoxia/reoxygenation model was employed.

SIP

hypoxia


Input: AVPR1A RS3 was not associated with schizophrenia.

schizophrenia

schizophrenia


Input: Also, IFN-gamma production by decidual and peripheral blood mononuclear cells after CTLA-4/Fc treatment in spontaneous abortion cases was significantly lower than those in normal pregnancy subjects.

IFN

spontaneous abortion


Input: We show that homozygous mutations affecting exons 1-4 of human AMN lead to selective malabsorption of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs.

AMN

megaloblastic anemia 1

AMN

megaloblastic anemia 1


Input: We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.

nuclear body protein Sp110

hypogammaglobulinemia


Input: In this study, we tested whether EMT confers resistance to complement-dependent cytotoxicity (CDC) in lung cancer cells and promotes tumor progression.

EMT

tumor progression


Input: Overexpression of XB130 enhanced NNK-induced protein tyrosine phosphorylation and promoted matrix metalloproteinase-14 translocation to cell motility-associated cellular structures after NNK stimulation.

translocation


Input: CONCLUSIONS: Together, these data highlight a broader role for dysregulated MAPK7 in driving tumorigenesis within niche populations of highly prevalent tumor types, and describe current efforts in establishing a robust drug discovery screening cascade.

tumorigenesis


Input: However, the role of mismatch repair (MMR) proteins and microsatellite instability (MSI) in transitional cell carcinoma of the bladder is less clear.

MMR

microsatellite instability


Input: Here, we identify the SRY-related high-morbidity-group (HMG) box 5 (SOX5) gene on chromosome 12p12 as a novel IGH-involved translocation partner in the case of BCL2-negative follicular lymphoma (FL) with a complex karyotype including t (12; 14) (p12. 2; q32) by long-distance inverse PCR.

translocation


Input: The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB (collagen type I alpha I-platelet-derived growth factor beta), which is amplified at low levels in the ring chromosome.

PDGFB

chromosomal translocation


Input: NKD2 impedes gastric cancer metastasis by inhibiting SOX18.

gastric cancer


Input: We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.

ALL

ALL


Input: In the subset of 1, 942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association.

epilepsy

epilepsy


Input: The present studies sought to define the clinical, post-mortem and neurophysiological phenotypes in ALS families with FUS mutations and to determine the frequency of FUS mutations in familial and sporadic ALS.

FUS

sporadic


Input: Tubular proteinuria was assessed by measuring urinary retinol-binding protein (RBP), beta2-microglobulin (beta2M), alpha1-microglobulin (alpha1M), and albumin in 138 patients: 26 affected males and 24 female carriers of the X-linked syndrome " Dent' s disease, " 6 patients with other Fanconi syndromes, 17 with distal renal tubular acidosis (dRTA), 39 with glomerulonephritis (GN), and 26 with Chinese herbs nephropathy (CHN).

CHN

glomerulonephritis


Input: Here, we report that tumor VEGF markedly induced sinusoidal vasculature dilation in bone marrow (BM) and BMC mobilization to tumors and peripheral tissues in mouse and human tumor models.

VEGF

dilation


Input: Mutator phenotype was assessed by assaying microsatellite instability (MSI) at 24 markers, hMLH1-promoter methylation, mutations at MMR genes (hMLH1, hMSH2, hMSH6, and hPMS2), and immune staining of MMR proteins (hMLH1, hMSH2, hMSH6, hPMS1, and hPMS2).

MMR

microsatellite instability


Input: Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.

pituitary hormone deficiency


Input: The aims of this study were to determine the effect of 1) human preterm labor on SIRT6 expression in human gestational tissue and 2) the effect in primary amnion cells of SIRT6 inhibition, using small interfering RNA (siRNA) on prolabor mediators.

preterm labor


Input: Using an online SAGE database (http://www. ncbi. nlm. gov/SAGE), we found the tag for mesothelin to be consistently present in the mesothelioma, ovarian cancer, and pancreatic cancer libraries but not in normal pancreas libraries.

mesothelin

ovarian cancer

mesothelin

ovarian cancer


Input: We reprogrammed CD3 + CD8 +, CD3 + CD4 +, and natural killer (NK) cells toward autologous and allogeneic targets such as B cells, Daudi lymphoma, primary melanoma, breast ductal carcinoma, breast adenocarcinoma, and rhabdomyosarcoma.

breast adenocarcinoma


Input: Sprague-Dawley rats were given water containing 175 mg/l NNM for 8 weeks and received intraperitoneal injections of a bcl-2 antisense phosphorothioate oligonucleotide, a sense oligonucleotide or a scrambled sequence oligonucleotide encapsulated in empty liposomes, at a dose of 150 microg oligonucleotide/kg body weight, every 4 weeks.

body weight


Input: Reversion was particularly evident for 7 genes: SOCS2, TNFAIP3, NR4A2, CXCR4, POLR2J, FAM49B, and STAG3L1, most of which encode negative regulators of inflammation.

inflammation


Input: Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

beta-sarcoglycan

limb-girdle muscular dystrophy type 2E

beta-sarcoglycan

limb-girdle muscular dystrophy type 2E


Input: Three hundred sixty-four Mexican Mestizo Mexico City residents from 87 families with at least one smoker were assessed for association of 12 gene variants of six candidate genes (CHRNA4, CHRNB2, DRD2, ANKK1, SLC6A3, and CYP2A6) with cigarette consumption, age of initiation and smoking duration.

smoking


Input: The nerve growth factor receptor TrkA interacted similarly with Rab7 wild-type and CMT2B mutant proteins, but the mutant proteins significantly enhanced TrkA phosphorylation in response to brief NGF stimulation.


Input: CONCLUSION: Reduction of VEGF and eNOS in gestational hypertension may lead to hypoperfusion and subsequent hypoxia of fetus in hypertensive pregnancy.

VEGF

hypoxia


Input: In the past 18 months, a number of independent groups have begun to define novel PIDs caused by defects in the caspase recruitment domain family, member 11 (CARD11)-B-cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)-mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1 [CBM]) signalosome complex.

translocation


Input: Using this breast cancer (BC) model, we find that in addition to EGF, adhesion to fibronectin (FN) activates signal transducer and activator of transcription 3 (STAT3) through EGFR-dependent and-independent mechanisms.

EGFR

adhesion


Input: Furthermore, FISH mapping of two patients with partial monosomy 21 using YAC and cosmid clones allowed us to define more accurately the telomeric border of the critical region between markers S226 and S213.

FISH

monosomy 21


Input: A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.

lipoprotein lipase

familial chylomicronemia

lipoprotein lipase

familial chylomicronemia


Input: Since all but one of the mutations result in premature stop codons, and since the localized nature of the lesions could be explained by Knudson' s two-hit model, GVMs are likely caused by complete loss of function of glomulin.

glomulin

GVM

glomulin

GVM


Input: Surprisingly, stable cell lines expressing VEGF-A siRNAs silenced VEGF-A expression equally well in hypoxia and normoxia.

VEGF-A

hypoxia


Input: These data suggest a possible involvement of MMP-9 in MADA disease, underlying the potential use in diagnosis and therapy.

MADA

MADA


Input: NIS gene transfer was performed in vivo in human MTC cell (TT) xenografts, using adenoviral vectors carrying the NIS gene linked to the cytomegalovirus promoter (Ad5-CMV-NIS) or a CEA promoter fragment (Ad5-CEA-NIS).

CEA

cytomegalovirus


Input: These data demonstrate sex-dependent roles of NPY and PYY in regulation of anxiety-and depression-like behaviour in the absence and presence of colitis.

PYY

colitis


Input: Furthermore, Hes-6 is a novel estrogen-regulated gene in breast cancer cells.

estrogen-regulated gene

breast cancer


Input: These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.

phosphoglycerate kinase 1

HCC

phosphoglycerate kinase 1

HCC


Input: Brain-derived neurotrophic factor (BDNF) has emerged as a novel angiogenic factor, and yet its impact on tumorigenesis is unclear.

BDNF

tumorigenesis


Input: The majority of follicular lymphoma cells carry the typical chromosome translocation 14; 18, which juxtaposes the bcl-2 gene to the immunoglobulin heavy-chain (IgH) gene.

bcl-2 gene

chromosome translocation


Input: The single cystic nephroma was TTF-1-negative, WT1-negative, and CD56-positive.

cystic nephroma


Input: Further the immunoreactivity of MKP-1 was detected in the neurons and partially co-localized with that of phospho-JNK in the surrounding zone of ischemia in rat MCA-O (middle cerebral artery occlusion) reperfusion model.

middle cerebral artery occlusion


Input: Recent observations that the deficits in social reciprocity skills seen in young (3-4-year-old) autistic children are improved after secretin infusions suggest an additional influence on neuronal activity. We show here that i. v. administration of secretin in rats induces Fos protein expression in the neurons of the central amygdala as well as the area postrema, bed nucleus of the stria terminalis, external lateral parabrachial nucleus and supraoptic nucleus.

secretin

autistic

secretin

autistic


Input: As the human securin, PTTG is involved in critical mechanisms of cell cycle regulation, whereby aberrant expression induces aneuploidy.

PTTG

aneuploidy


Input: To examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM #300049) in two families segregating a missense mutation and a C-terminal deletion of the filamin 1 (FLN1) gene.

MRI

bilateral periventricular nodular heterotopia


Input: To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis.

vimentin

nephrosis

vimentin

nephrosis


Input: While non-immunized transgenic animals demonstrated heightened levels of transcripts associated with pituitary tumorigenesis (HMG2A, E2F1, CCND1, PRL, GH, GAL, PTTG1, BMP4) and decreased levels of CDK inhibitors CDKN1B (p27), CDKN2A (p16) and CDKN2c (p18), immunization led to a reversal to levels found in non-transgenic animals.

tumorigenesis


Input: NPS-1034 inhibited the proliferation of cells expressing activated MET and promoted the regression of tumors formed from such cells in a mouse xenograft model through anti-angiogenic and pro-apoptotic actions.

MET

regression


Input: We found that BRCA1/2 tumors showed a higher genomic instability than BRCAX and sporadic cancers.

genomic instability


Input: In this study, we investigate the messenger RNA (mRNA) expression of GAPDH (glycolytic glyceraldehyde 3-phosphate dehydrogenase) and PKM2 (pyruvate kinase isoform M2), ATP5B (mitochondrial β-F1-ATPase), and heat shock protein 60 in matched serous solid tumor and corresponding ascites.

GAPDH

ascites


Input: Sixty-four consecutive patients with malignant HCC (n = 20), liver metastases (n = 27), or nonmalignant (n = 17) liver diseases undergoing partial or total hepatectomy and orthotopic liver transplantation were included in this prospective study from January to July 1995.

HCC

liver diseases


Input: In this study, 4 cervical cancer cell lines were growth inhibited by micromolar concentrations of Flex-Hets to greater extents than RAR/RXR active retinoids.

RAR

cervical cancer


Input: Perturbation of epithelial-mesenchymal transition (EMT) results in loss of intracellular adhesions leading to tumor progression.

EMT

tumor progression


Input: Apelin mRNA is significantly higher expressed in adipose tissue of patients with type 2 diabetes and correlates with circulating apelin, BMI, body fat, C-reactive protein, and insulin sensitivity.

apelin

insulin sensitivity


Input: We used serum starvation-refeeding experiment to explore the involvement of PIDD in HCC cell cycle regulation.

HCC

starvation


Input: Diverse expression of cytosolic phospholipase A2, 5-lipoxygenase and prostaglandin H synthase 2 in acute pre-B-lymphocytic leukaemia cells.

lymphocytic leukaemia


Input: Applying the statistical GISTIC (Genomic Identification of Significant Targets in Cancer) tool we identified potential novel candidate tumor suppressor-(DBC1, FHIT, PPP2R2A) and oncogenes (LYN, FGF19, GRB7, PTPN1) within these regions of chromosomal instability.

chromosomal instability


Input: In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency.

APRIL

humoral immunodeficiency


Input: We selected 34 single nucleotide polymorphisms pertaining to 9 genes involved with Toll-like receptor-mediated pathogen recognition and/or regulation (LBP, CD14, TLR1, TLR2, TLR4, TLR6, MD2, CARD15 and SIGIRR) and assessed in a nested case-control study their putative association with bacterial vaginosis, as diagnosed by Gram staining, and with the vaginal carriage of A. vaginae and G. vaginalis, as determined by species-specific PCR, among 144 pregnant women.

bacterial vaginosis


Input: These results suggest that glucocorticoid resistance in this family is due to a point mutation in the steroid-binding domain of the glucocorticoid receptor.

glucocorticoid receptor

glucocorticoid resistance

glucocorticoid receptor

glucocorticoid resistance


Input: We applied complex segregation and linkage analyses in a set of multigenerational families densely segregating ADHD comorbid with ODD, CD, alcohol abuse/dependence, and nicotine dependence.

ODD

alcohol abuse


Input: The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.

inhalation


Input: This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome.

PEO

Alpers syndrome

PEO

Alpers syndrome


Input: Although numbers are small, distinctive features of these cases include a tendency to young age, the absence of association with tuberous sclerosis, predominant alveolar architecture and epithelioid cytology, minimal immunoreactivity for muscle markers, and strong (3 +) TFE3 immunoreactivity.

tuberous sclerosis


Input: The aldosterone-sensitive serum-and glucocorticoid-inducible kinase SGK1 has been shown to participate in the stimulation of ENaC and to mediate renal fibrosis following mineralocorticoid and salt excess.

renal fibrosis


Input: Eighteen patients (13. 4 percent), including 12 without alcoholism, had a CFTR mutation on one chromosome, as compared with a frequency of 5. 3 percent among 600 local unrelated partners of persons with a family history of cystic fibrosis (P & lt; 0. 001).

CFTR

alcoholism

CFTR

alcoholism


Input: To investigate the expression of p16, retinoblastoma (pRb), and cyclin D1 oncoproteins in endometriomas and adenomyosis.

cyclin D1

adenomyosis


Input: Concurrent treatment of the glioma cell line U87-MG with siRNA 1 and temozolomide (TMZ) resulted in a 13-fold reduction in the dose of TMZ required to achieve a similar effect if TMZ was used alone.

glioma


Input: The clinical differentiation between hereditary nonpolyposis colorectal cancer (HNPCC) and attenuated familial adenomatous polyposis (AFAP) is very difficult.

AFAP

hereditary nonpolyposis colorectal cancer


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%.

colon cancer

colon cancer


Input: In SCID mice with acute renal failure (ARF), SDF-1 was strongly up-regulated in resident cells surrounding necrotic areas.

ARF

necrotic


Input: OCT revealed reduced retinal thickness, mostly in CACD, subretinal lesions, macula edema, or was normal.

OCT

edema


Input: To better understand the molecular basis of the effect of BPA on human reproductive health, a genome-wide screen was performed using human foreskin fibroblast cells (hFFCs) derived from child hypospadias (HS) patients to identify novel targets of low-dose BPA exposure.

BPA

hypospadias


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

diabetic neuropathy

diabetic neuropathy


Input: Plaque suPAR levels correlated with plaque content of lipids and macrophages and with proinflammatory chemokines and cytokines monocyte chemoattractant protein 1, tumor necrosis factor α, interleukin 1β, interleukin 6, platelet-derived growth factor AB/BB, monocyte inflammatory protein 1β, regulated on activation normal T-cell expressed and secreted, and s-CD40L.

plaque


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: The SCN10A SNP V1073 was, however, associated strongly with BrS [66. 9 vs. 40. 1% (UK10K) OR (95% CI) = 3. 02 (2. 35-3. 87), P = 8. 07 & #215; 10-19].

BrS

BrS


Input: These results led to a second hypothesis, that TLR4, the only TLR that signals through both MyD88 and TRIF signaling pathways, contributed to inflammation during B. cereus endophthalmitis.

TRIF

inflammation


Input: A novel Arg481Glu (R481Q) mutation in IGF-IR was detected in a family with intrauterine and postnatal growth retardation.

IGF

postnatal growth retardation


Input: Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome.

MIRAGE

myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy

MIRAGE

myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy


Input: Heart weight to body weight ratios and mRNA levels of fetal gene markers in the heart were significantly higher in USP15-TG mice than in wild-type (WT) mice.

body weight


Input: Two haplotypes of the CHRNA6 (CCCC and TCGA) were associated with heavy alcohol consumption (p = 0. 004 and p = 0. 035 respectively) and with increased alcohol intake (p = 0. 004) for the CCCC haplotype compared to non-carriers of these haplotypes.

alcohol intake


Input: There were significant increases in HSP72 (P < 0. 001), HSP32 (P = 0. 03), GSSG (t = 9. 5, P < 0. 001) and TBARS (t = 5. 6, P = 0. 001) in response to the 5-day hypoxic intervention, whereas no significant changes were observed for GSH (P = 0. 22) and TGSH (P = 0. 25).

hypoxic


Input: The TEL/AML1 translocation, which is specific for pre B-cell leukemias is predictive of a favorable treatment outcome.

translocation


Input: Fibrillin-1 (FBN1) was reported to have impact on the physiological arterial stiffness and vascular remodeling with hypertension of recent years.

arterial stiffness


Input: Brain-derived neurotrophic factor (BDNF) is a neurotrophin (NT) known to participate in chronic somatic pain.

BDNF

somatic pain


Input: The regulation of extracellular signal-regulated kinase (ERK) oscillations in the context of wound healing and carcinogenesis have been investigated in premalignant and malignant JB6 mouse epidermal cells stimulated with basic fibroblast growth factor (bFGF) and 12-O-tetradecanoyl phorbol-13-acetate (TPA).

ERK

premalignant


Input: The clinical consequences of SALL4-SOX2 association suggest a possible functional interaction between these factors in regulation of ESCC maintenance and aggressiveness and introduce these regulators of stemness state as potentially interesting therapeutic targets to bring new opportunities for onco-therapeutic modalities.

aggressiveness


Input: Loss of KLOTHO mRNA was observed in several cervical cancer cell lines and in invasive carcinoma samples, but not during the early, preinvasive phase of primary cervical tumorigenesis.

KLOTHO

tumorigenesis


Input: In limb ischemic mice, the local administration of pVHAVI promoted gastrocnemius mass and force recovery and ameliorated limb necrosis much better than the group treated with hypoxia-insensitive vector, even this last group had produced more VEGF in muscle.

VEGF

hypoxia


Input: After UV treatment or serum starvation, apoptosis was strongly enhanced in MHCC97H and Bel7402 cells transfected with small interfering RNA against NS, whereas NS overexpression inhibited UV-and serum-induced apoptosis of HCC cells.

HCC

starvation


Input: Our study shows abnormalities in the expression of 4 principal members of the E-cadherin/catenin complex in SPTs, which may help to explain the discohesive nature of the cells and the cystic changes in these tumors, and provide additional diagnostic features.

E-cadherin

abnormalities


Input: We investigated whether Gata6 plays a role during pancreatic tumorigenesis.

tumorigenesis


Input: Here, we report a case of CADASIL who presented with migrainous headache, behavioral disorder, and familial history of stroke and the diagnosis was established by the findings of head magnetic resonance images revealing characteristic white matter lesions and a mutation in the NOTCH 3 gene.

NOTCH 3 gene

behavioral disorder


Input: The varied NER genes and smoking are two important risk factors of bladder cancer, but the mechanism of the NER protein and smoking in cancer progression, however, remains unclear.

NER

smoking


Input: Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

band heterotopia


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

bipolar disorder

bipolar disorder


Input: To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels.

aromatase

aromatase deficiency

aromatase

aromatase deficiency


Input: The aim of this study was to investigate the association of the Thr92Ala DIO2 variant to indices of insulin resistance in the Old Order Amish.

insulin resistance


Input: Classical lissencephaly is a disorder of neuroblast migration with most patients having mutations of either the LIS1 or DCX genes.

Classical lissencephaly

Classical lissencephaly


Input: The following clinical parameters were recorded at baseline and 12 months after surgery: papillary bleeding index (PBI), gingival recession (REC), probing pocket depth (PPD), clinical attachment level (CAL), and the vertical relative attachment gain (V-rAG).

PBI

gingival recession


Input: Here we report for the first time that ADM treated or stably transfected Ishikawa cells overexpressing ADM show increased resistance to hypoxia induced apoptosis.

ADM

hypoxia


Input: Seventy three cases of Kaposi' s sarcoma (KS) from the 3 histological subtypes (patch, plaque and nodular) were assessed for bcl-2 and p53 protein expression.

plaque


Input: Clinical relevance of many PRSS1 variants found in patients with sporadic chronic pancreatitis is unknown but often assumed by analogy with known disease-causing mutations.

sporadic


Input: The rate of A2 dissociation, using an optical biosensor, was determined to be fourfold faster for ARG531 (HIS) compared with FVIII WT.

FVIII

dissociation


Input: The reciprocal duplication leads to dup (17) (p11. 2p11. 2) associated with the Potocki-Lupski syndrome (PLS), a neurological disorder whose features include autism.

autism


Input: Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as " Jaeken syndrome ") is an autosomal recessive disorder characterized by defective glycosylation.

Jaeken syndrome

Jaeken syndrome


Input: Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.

methionine adenosyltransferase 1A

hypermethioninemia

methionine adenosyltransferase 1A

hypermethioninemia


Input: The objective of the present study is to assess whether NBS1 mutations play a role in the pathogenesis of human primary liver cancer, including HBV-associated HCC and intrahepatic cholangiocarcinoma (ICC).

primary liver cancer


Input: Here we report the genetic and functional characterization of somatic mutations affecting the chromatin remodeler CHD2, one of the most frequently mutated genes in CLL (5. 3%) and in monoclonal B lymphocytosis (MBL, 7%), a B-cell expansion that can evolve to CLL.

lymphocytosis


Input: By contrast, a significant reduction was observed in levels of glutathione synthetase (P & lt; 0. 01), glutathione-S-transferase mu2 (P & lt; 0. 01), glutathione-S-transferase p (P & lt; 0. 05), antioxidant protein 2 (P & lt; 0. 05), thioredoxin peroxidase-I (P & lt; 0. 05) and thioredoxin peroxidase-II (P & lt; 0. 01) in DS compared with controls.

antioxidant protein 2

DS

antioxidant protein 2

DS


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

thyroid cancer

thyroid cancer


Input: In vitro, cobalt chloride-treated VEGF induction and hypoxia responsive element (HRE) promoter activity were inhibited by IFNs and this abrogation was cancelled by introduction of small interfering RNA for STAT1.

hypoxia


Input: At 10-12 weeks of age, p27-/-and p27 +/+, hGHRH mice were larger than their p27 +/+ littermates and displayed characteristic hyperplasia of the IL and AL, respectively.

hyperplasia


Input: A novel case of Chrousos syndrome has been reported in a patient with adrenal incidentaloma, who harboured a heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor.

hGR

Chrousos syndrome

hGR

Chrousos syndrome


Input: We found that Notch pathway components, including Jag1-2 ligands, Hes1-Hey1 targets and the intracellular domain of Notch1, were increased in hypoxia, as well as the phosphorylation levels of Erk1-2 and Akt.

hypoxia


Input: The Thr92Ala (rs225014) polymorphism in the type 2 deiodinase (DIO2) gene has been associated with insulin resistance (IR) and decreased enzyme activity in human tissues but kinetic studies failed to detect changes in the mutant enzyme, suggesting that this variant might be a marker of abnormal DIO2 expression.

insulin resistance


Input: FNA cytology of SS shows a spectrum of cytomorphological features; the diagnosis is confirmed by RT-PCR on the aspirated material for the SYT-SSX fusion transcript.

SYT

aspirated


Input: Two new mutations that predicted amino acid substitutions with significant effects on enzyme function were detected in conserved regions of the protoporphyrinogen oxidase gene in one Aboriginal variegate porphyria patient and the possible fourth case.

protoporphyrinogen oxidase

variegate porphyria

protoporphyrinogen oxidase

variegate porphyria


Input: We report the 5-and 10-year survival rate of women diagnosed with breast cancer in the context of an annual MRI-based surveillance program.

MRI

breast cancer


Input: The result was supported by a high positivity for macroH2A1. 1 in knockout mice for genes targeted by macroH2A1 (Atp5a1 and Fam73b), that under a high-fat diet presented minimal lipidosis.

lipidosis


Input: The translocation generated a sterile fusion transcript under the control of the PTK2 promoter, affecting expression of both PTK2 and THOC2 genes.

translocation


Input: The 3'-LTR mutations may upregulate syncytin-1 expression, enabling it to participate in UCC tumorigenesis and development by interacting with c-Myb.

tumorigenesis


Input: The result showed that PKR was reduced in tumor tissues of HCC from HBV carriers with low serum viral load (< 0. 7 x 10 (6) copies/ml) compared to those with higher serum viral load.

PKR

viral load


Input: In study, the expression patterns and functional differences between an original glioma cell population (U251 and U87) and sublines (U251-P10, U87-P10) that were selected to be migration-prone were investigated.

glioma


Input: Altogether these results indicate that the GLP-1/GLP-1R system in AT represents another potential candidate for improving insulin sensitivity in obese patients.

insulin sensitivity


Input: [Peculiarities of polymorphism in gene of serotonin transporter in men from different ethnic groups with acute alcoholic psychoses].

serotonin transporter

alcoholic psychoses


Input: Germline mutations in the adenomatosis polyposis coli (APC) gene cause FAP and Gardner syndrome and have recently been associated also with the development of AFAP.

AFAP

adenomatosis


Input: Gene transfer of antisense alphaV and beta3 expression vectors downregulated alphaV and beta3 in HepG2 tumours established in nude mice, inhibited tumour vascularization and growth, and enhanced tumour cell apoptosis.

vascularization


Input: Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

Legius syndrome

Legius syndrome


Input: In this study, we developed and evaluated a loop-mediated isothermal amplification (LAMP) assay for differential diagnosis of infections with Taenia species with cathepsin L-like cysteine peptidase (clp) and cytochrome c oxidase subunit 1 (cox1) genes.

LAMP

infections


Input: We investigated whether genetic variation in FTO is associated with polycystic ovary syndrome (PCOS), a condition also characterized by insulin resistance.

FTO

insulin resistance


Input: The expression of aromatase in JAR cells, human placental choriocarcinoma cells, was found to be induced by the treatment of phorbol 12, 13-diacetate (PDA), phorbol 12, 13-didecanoate (PDD), or phorbol 12-myristate 13-acetate (TPA), but not 4 alpha-phorbol, 12, 13-didecanoate (4 alpha PDD).

TPA

placental choriocarcinoma


Input: We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma.

glaucoma

glaucoma


Input: Highly increased maspin expression corresponds with up-regulation of miR-21 in endometrial cancer: a preliminary report.

maspin

endometrial cancer


Input: We detected two unrelated sporadic individuals with syndromic ID carrying unique overlapping duplications encompassing HUWE1.

sporadic


Input: We conclude that that 45% of a subgroup of children with autism suffers from low NK cell activity, and that low intracellular levels of glutathione, IL-2 and IL-15 may be responsible.

autism

autism


Input: Cyclin D1 overexpression was observed in 26 of 47 (55%) PN hyperplasias, 3 of 4 (75%) papillomas, and 10 of 18 (56%) TCCs.

Cyclin D1

papillomas

Cyclin D1

papillomas


Input: In conclusion, the phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B.

geroderma osteodysplasticum

geroderma osteodysplasticum


Input: We studied the effects of six of these 3p21. 3 genes (101F6, NPRL2, BLU, FUS1, HYAL2, and HYAL1) on tumor cell proliferation and apoptosis in human lung cancer cells by recombinant adenovirus-mediated gene transfer in vitro and in vivo.

adenovirus


Input: We compared the clinical, hematologic, morphologic and cytogenetic features of 18 such patients-for whose disease we propose the designation' refractory cytopenia with multilineage dysplasia' (RCMD)-to those of 42 patients meeting the FAB criteria for RA or RARS (14 patients) and RAEB (28 patients).

FAB

refractory cytopenia with multilineage dysplasia


Input: Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

GAMT

body weight


Input: The characteristic DFSP-associated translocation, t (17; 22) (q22; q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients.

PDGFB

translocation


Input: The recently developed monoclonal antibody HBA 71 is specific for the product MIC2, a marker of peripheral primitive neuroectodermal tumors.

HBA

peripheral primitive neuroectodermal tumors


Input: In BRCA1 heterozygous clones and nontumorigenic breast epithelial tissues from BRCA mutation carriers, FISH revealed elevated genomic instability when compared with their respective controls.

genomic instability


Input: A systematic review of the literature was performed using OvidSP and PubMed databases using keywords " pancreatic cancer " and individual glycolytic and mitochondrial oxidative phosphorylation (MOP) enzymes.

MOP

pancreatic cancer


Input: The treatment of cells with 2-deoxy-d-glucose, an inhibitor of glycolysis, reduced rRNA transcription and H3K36me2 in the rDNA promoter, both of which were completely dependent on KDM2A in low concentrations of 2-deoxy-d-glucose, that is, mild starvation conditions.

mild


Input: We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa.

adhalin

primary adhalinopathies

adhalin

primary adhalinopathies


Input: To comprehend the role of pyridoxal 5'-phosphate (PLP) in epilepsy or seizure, we investigated whether the expressions of two PLP synthetic enzymes (pyridoxal kinase, PLK; pyridoxine-5'-phosphate oxidase, PNPO) are altered in the hippocampus and whether changes in paired-pulse responses in the hippocampus are associated with altered PLP synthetic enzyme expressions following status epilepticus (SE).

PLP

seizure


Input: Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

androgen receptor

partial androgen insensitivity syndrome

androgen receptor

partial androgen insensitivity syndrome


Input: We conclude that the presence of the Glu298Asp eNOS gene variant could be a marker of increased risk of developing placental abruption.

eNOS

placental abruption

eNOS

placental abruption


Input: Rats injected with interleukin-1 (10 micrograms) and tumor necrosis factor (10 micrograms) and then exposed continuously to hyperoxia (greater than 99% O2, 1 atm) survived longer, had increased lung reduced/oxidized glutathione ratios, smaller pleural effusions, less pulmonary hypertension and improved arterial blood gases.

tumor necrosis factor

pulmonary hypertension

tumor necrosis factor

pulmonary hypertension


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

MMR

microsatellite instability


Input: In conclusion, PTX3 inhibits FGF/FGFR-driven EMT in melanoma cells, hampering their tumorigenic and metastatic potential.

melanoma


Input: We also detected the ALF DNA methylation level by real-time methylation-specific PCR (MSP) both in testes of adult, fetal and infertile patient.

MSP

infertile


Input: Stratified analyses indicated that a significantly decreased risk of ESCC associated with the IL17A rs4711998 A > G polymorphism was evident among younger patients and patients who never smoking or drinking.

drinking


Input: The utility of circulating angiogenic cytokines (CAC) as biomarkers in pancreatic cancer has not been clarified yet.

CAC

pancreatic cancer


Input: Adult female Thra1 (PV/+) mice had short stature, grossly abnormal bone morphology but normal bone strength despite high bone mass.

high bone mass


Input: These results demonstrated that the G250-specific oncolytic adenovirus expressing Ki67-siRNA is applicable for human renal clear cell cancer therapy.

adenovirus


Input: We found for the first time that the increased risk of IMI in carriers of genotype 462Ile/Val of the CYP1A1 gene occurred only in smoker men (odds ratio [OR] = 1. 91; 95% confidence interval [CI] 1. 01-3. 59), whereas nonsmoker men did not have the risk of infertility (OR = 1. 58; 95% CI 0. 66-3. 76).

CYP1A1 gene

infertility


Input: The translocation resulted in deletion of exon 5 and consequently fusion of intron 4 of WDR11 to the 3' untranslated region of a novel member, ZNF320, of the Krüppel-like zinc finger gene family.

translocation


Input: There are also a few studies showing that FOXO3a protected cells under stress conditions, including oxidative stress, serum deprivation, and hypoxia.

hypoxia


Input: We recently showed that EWS/FLI interacts with GGAA-microsatellites to regulate some of its target genes, including NR0B1, an EWS/FLI-regulated gene that is required for the oncogenic phenotype of Ewing' s sarcoma.

sarcoma


Input: Polymorphisms in several genes on the short arm of chromosome 6 (6p), among them, VEGF, FKBP5, HLA-DR and TNF-alpha, have been associated with inflammation and transplant outcome, such as acute rejection.

inflammation


Input: In this study, downregulation of miR-15a-16 in nonsmall cell lung cancer (NSCLC) was found to be inversely correlated with Cripto.

Cripto

nonsmall cell lung cancer


Input: Immunoprecipitation of the in vitro translation products from a synthetic TGase-H mRNA and from total protein of cultured erythroleukemia HEL cells revealed a protein with a molecular weight of 63, 000 by sodium dodecyl sulfate-polyacrylamide gel electrophoresis.

TGase

erythroleukemia


Input: A polymorphism near the promoter region of the IGF-I gene has been associated with serum IGF-I levels, body height and birth weight.

IGF-I

birth weight


Input: The nonsense p. E61X genetic variation in the RANGRF gene has been postulated as responsible for Brugada syndrome although no clear association has been established.

RANGRF

Brugada syndrome

RANGRF

Brugada syndrome


Input: FAK is overexpressed in most solid tumors and is involved in multiple protein-protein interactions critical for tumor cell survival, tumor neovascularization, progression and metastasis.

FAK

neovascularization


Input: Factor XI (FXI) deficiency leads to an injury-related bleeding diathesis, which is notable for the variability in the bleeding tendency and the lack of a clear relationship between bleeding and FXI coagulant activity.

FXI

bleeding


Input: The LAMP developed in this study is useful not only for diagnosis of but also for the assessment of MPXV infections.

LAMP

infections


Input: The aim of this study was to evaluate the association of Ala54 Thr polymorphism of the FABP2 gene with insulin sensitivity in pubertal girls born small for gestational age (SGA).

FABP2 gene

small for gestational age


Input: By inducing cell death, SAH moved the boundary of necrosis toward the tumor edge.

SAH

necrosis


Input: Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008.

autistic

autistic


Input: We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas.

QKI

gliomas

QKI

gliomas


Input: Of these, only KLF5 mRNA was expressed at high levels in non-neoplastic breast epithelial cells and in normal human mammary tissue, but at lower levels in various breast cancer cell lines.

non-neoplastic


Input: Since the brain tissue microenvironmental niche is a prerequisite for expression of the stem cell marker CD133 antigen in brain tumors, we investigated the invasion mechanisms specific to CD133 (+) U87 glioblastoma cells in response to lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P), two circulating bioactive lysophospholipids and potent inducers of cancer.

LPA

glioblastoma


Input: In this study, we demonstrate that loss of GPx3 expression by promoter hypermethylation is frequently observed in a wide spectrum of human malignancies.

malignancies

malignancies


Input: Here we report on a de novo g. 41022153G & gt; A; p. Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient.

FA

FA


Input: This growth enhancement was also seen in cells transfected with the BCL-2 gene with its own promoter juxtaposed to the immunoglobulin heavy chain gene enhancer, which represents the translocated form of the BCL-2 gene observed in follicular lymphomas with the t (14; 18) translocation.

BCL-2 gene

translocation


Input: This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder.

FA

FA


Input: Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).

APP

endogenous depression

APP

endogenous depression


Input: In vitro, cobalt chloride-treated VEGF induction and hypoxia responsive element (HRE) promoter activity were inhibited by IFNs and this abrogation was cancelled by introduction of small interfering RNA for STAT1.

VEGF

hypoxia


Input: However, the oncogenic potential of RPS14 is not understood in leukemia and high-risk myelodysplastic syndrome (MDS).

leukemia


Input: Shiga toxin (Stx)-producing Escherichia coli (STEC) from patients with hemolytic-uremic syndrome (HUS), patients with diarrhea without HUS, or asymptomatic subjects were genotyped to assess associations between stx2 variants and clinical manifestations of infection.

asymptomatic


Input: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.

COX

encephalopathy, chronic


Input: Though MMR deficiency alone appears to be insufficient for malignant transformation, it leads to measurable microsatellite instability even in single MMR-deficient crypts.

MMR

microsatellite instability


Input: The (8; 21) translocation between the AML1 and ETO genes is seen in approximately 12-15% of all acute myeloid leukemia (AML) and is a frequently observed nonrandom genetic alteration associated with AML.

translocation


Input: Immunohistochemical analysis revealed that 66/66 (100%) RER positive carcinomas were associated with complete lack of expression of either hMSH2 or hMLH1.

RER

carcinomas


Input: Bcl-2 immunoexpression increased from the patch stage (36%) to the plaque stage (45%) to the nodular stage (70. 83%).

plaque


Input: In addition, the AFP expression-and hypoxia-dependent in vitro cytotoxicity of Ad-HRE (6)/hAFPΔ19 and Ad-HRE (12)/hAFPΔ19 was determined by 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide assay and cytopathic effect assay.

AFP

hypoxia


Input: Although aging is closely related with the onset of senile systemic amyloidosis (SSA) caused by wild-type transthyretin (TTR), the effect of aging on amyloid formation has remained unclear in familial amyloidotic polyneuropathy (FAP), caused by variant-and wild-type TTR.

SSA

polyneuropathy


Input: The frequency of LB-E12 (MB1, DC1, MT1) showed a significant increase in lepromatous leprosy patients (p = 0. 04).

lepromatous leprosy


Input: Similarly, injury-induced vascular remodeling in apoE (-/-) mice was associated with early and transient ESDN upregulation, in parallel with cell proliferation.

ESDN

vascular remodeling


Input: In contrast to findings suggested by animal studies, we found significant decrease in hypoxic responsiveness but not in hypercapnic responsiveness in narcoleptics, and further analysis indicated that decreased ventilatory responses to hypoxia in human narcolepsy-cataplexy is in relation to HLA-DQB1 * 0602 status, not hypocretin deficiency.

hypocretin

hypoxia


Input: One of the three peptides was found to induce EGFRvIII-specific CTLs as demonstrated by IFN-gamma production and cytotoxicity against HLA-A0201 + EGFRvIII transfected U87 glioma cells.

glioma


Input: While other neurotransmitters have also been implicated, to date the only molecular genetic defect which has been found to associate with alcoholism, drug dependency, obesity, smoking, pathological gambling, attention-deficit-hyperactivity disorder (ADHD), Tourette syndrome, as well as other related compulsive behaviours, are the variants of the dopamine D2 receptor gene (DRD2).

smoking


Input: The genes analyzed included RARbeta (methylated in 20%), p16 (18%), CACNA1G (16%), TIMP-3 (11%), E-cad (7%), THBS1 (7%), hMLH1 (4%), DAP kinase (2%), and MGMT (0%).

cad


Input: Inhalation of IL-5 significantly decreased CD34 (+)/IL-5Ralpha mRNA (+) cells within the bronchial mucosa and the percentage of CD34 (+) cells that were CCR3 (+) within the bone marrow of atopic asthmatic, but not control, volunteers.

atopic


Input: After potassium supplementation, plasma potassium, renin, aldosterone or AII, and the relationship between AII and aldosterone levels increased significantly, while body weight, plasma catecholamines, the chronotropic effects of isoproterenol, AII or NE, the pressor effects of AII and plasma clearance of AII or NE were unchanged in all groups.

AII

body weight


Input: The expression of N-myc down-regulated gene 1 (NDRG1) has previously been reported to be involved in the proliferation, differentiation, invasion and metastasis of cancer cells, but its role in cervical cancer is still unclear.

N-myc

cervical cancer


Input: The prevalence and development of microsatellite instability (MSI) and underlying mismatch repair (MMR) deficiency in the carcinogenesis of adenocarcinomas of the papilla of Vater and their precursor lesions are not well established.

MMR

microsatellite instability


Input: From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene.

tyrosine hydroxylase

tyrosine hydroxylase deficiency

tyrosine hydroxylase

tyrosine hydroxylase deficiency


Input: These data contribute to the expanding database of ABCC6 mutations, to the description of phenotypic variability, and inheritance in PXE, and should be helpful for genetic counselling.

PXE

PXE


Input: It has been reported that p27 knockout mice develop multiorgan hyperplasia and intermediate lobe pituitary tumors secreting ACTH.

hyperplasia


Input: Primary aldosteronism (PA) is the most common endocrine form of secondary hypertension, and one of the most common subtypes of sporadic PA is aldosterone-producing adenoma (APA).

APA

secondary hypertension


Input: The results obtained with the SHBG-C57BL/ksJ-db/db mouse model have allowed us to determine that the SHBG overexpression in the C57BL/ksJ-db/db reduced the body weight gain but did not change the metabolic profile of these mice.

SHBG

body weight gain


Input: Inhibition of PKCdelta by rottlerin or knockdown of TG2 protein by a TG2-specific siRNA resulted in a marked increase in autophagy shown by presence of autophagic vacuoles in the cytoplasm, formation of the acidic vesicular organelles, membrane association of microtubule-associated protein 1 light chain 3 (LC3) with autophagosomes, and a marked induction of LC3-II protein, important hallmarks of autophagy, and by electron microscopy.

autophagic vacuoles


Input: Mutations in GJB6 cause hidrotic ectodermal dysplasia.

hidrotic ectodermal dysplasia

hidrotic ectodermal dysplasia


Input: Our goal was to investigate whether genetic variation in TNF and LTA is associated with asthma and atopy and whether the association is modified by parental smoking in a Mexican population with high ozone exposure.

TNF

atopy


Input: In addition to established tumors, NQO1 gene expression is also increased in developing tumors, indicating a role in cellular defense during tumorigenesis.

NQO1 gene

tumorigenesis


Input: SPOP (Speckle-type POZ protein) maps to the 17q21-22 candidate linkage region and is one of the most frequently mutated genes in sporadic prostate cancers.

SPOP

sporadic


Input: To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome.

L1 syndrome

L1 syndrome


Input: Patients (n = 112) from 285 families who were counseled between 1990 and 2005 at a clinic for patients at high risk for HNPCC were selected for screening to detect mutations in MMR genes MLH1, MSH2, MSH6, and PMS2 based on family history, microsatellite instability (MSI), and immunohistochemical analysis of MMR protein expression.

MMR

microsatellite instability


Input: ABCG2 34G > A was statistically associated with occurrence of skin rash; 13 (42%) of the 32 patients with at least one variant ABCG2 34G > A allele (G/A and A/A) developed grade 2 or worse skin rash, whereas only 10 (19%) of 51 patients homozygous for the reference allele (G/G) for the wild-type sequence for both alleles did so (P = 0. 046).

skin rash


Input: The transwell migration assay revealed that both IQGAP1 and RhoC stimulated the migration activity of the gastric cancer cell line AGS.

RhoC

gastric cancer


Input: In vivo, down-regulation of CCR10 significantly impairs growth of glioma.

glioma


Input: Three-base deletion mutation c. 120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.

Darier disease

Darier disease


Input: Motor neurons expressing BICD2-N showed accumulation of dynein and dynactin in the cell body, Golgi fragmentation and several signs of impaired retrograde trafficking: the appearance of giant neurofilament swellings in the proximal axon, reduced retrograde labelling by tracer injected in the muscle and delayed expression of the injury transcription factor ATF3 after axon transection.

giant


Input: Tubular proteinuria was assessed by measuring urinary retinol-binding protein (RBP), beta2-microglobulin (beta2M), alpha1-microglobulin (alpha1M), and albumin in 138 patients: 26 affected males and 24 female carriers of the X-linked syndrome " Dent' s disease, " 6 patients with other Fanconi syndromes, 17 with distal renal tubular acidosis (dRTA), 39 with glomerulonephritis (GN), and 26 with Chinese herbs nephropathy (CHN).

RBP

distal renal tubular acidosis


Input: However, in contrast to the MSC (GFP) group, the MSC (Ang1) group showed enhanced angiogenesis and arteriogenesis (by 11-35%), infarction area was reduced by 30% and the left ventricular wall was 46% thicker (P < 0. 05).

MSC

infarction


Input: βG was tethered on the plasma membrane of three different human cancer cell lines: human colon carcinoma (LS174T), lung adenocarcinoma (CL1-5) and bladder carcinoma (EJ).

lung adenocarcinoma


Input: In this study, we demonstrated how the cleaved intracellular domain of CD44 (CD44ICD) activates stemness factors such as Nanog, Sox2 and Oct4, and contributes to the tumorigenesis of breast cancer.

tumorigenesis


Input: adenomatosis polyposis coli, E-cadherin, catenin, EphB2, fibronectin-1, HTATIP2, tissue inhibitor of metalloprotease-4) were down-regulated by up to 90%, while genes involved in enhancement of metastatic behavior (integrin a7b1, hepatocyte growth factor receptor, transforming growth factor-beta1, VEGF, kisspeptin, interleukin-1beta) were dramatically up-regulated above 200%.

E-cadherin

adenomatosis


Input: By analogy with data obtained from previously characterized fusion genes involving FGFR1 and BCR/ABL, it is likely that the oligomerization domain contributed by BCR is critical and that its dimerizing properties lead to aberrant FGFR1 signaling and neoplastic transformation.

BCR

neoplastic transformation


Input: We conclude that miR-30e, miR-181b, miR-34a, miR-346 and miR-7 combined as a panel are potentially useful non-invasive biomarkers for schizophrenia diagnosis.

schizophrenia

schizophrenia


Input: Our data do not support a role for polymorphisms of the GSTM1 and GSTT1 genes in the pathogenesis of pre-eclampsia, eclampsia and HELLP syndrome.

pre-eclampsia


Input: A relapsed leukemia patient displayed microsatellite instability, but no genetic and epigenetic alterations in key MMR genes were identifiable.

MMR

microsatellite instability


Input: Some tumors, initially arising as intestinal-type (glandular structure), acquire a mixed histotype during neoplastic progression, in which both the typical alterations of the intestinal cancerogenesis (p53, microsatellite instability) and those of the diffuse carcinoma (E-cadherin) coexist.

E-cadherin

microsatellite instability