Input: In this study, we screened 12 primary sporadic colorectal cancers with microsatellite instability for mutations in MSH2 and MLH1 by using reverse transcription-polymerase chain reaction (RT-PCR) and single-strand-conformation-variant (SSCV) analysis.

sporadic


Input: PET investigations of [(18) F] FBA-FALGEA-NH (2) were performed on a MicroPET scanner, using seven nude mice xenografted subcutaneously with human glioblastoma multiforme (GBM) tumours, expressing the EGFRvIII in its native form, and five nude mice xenografted subcutaneously with GBM tumours lacking EGFRvIII expression.

FBA

glioblastoma multiforme


Input: Germline mutations of BRCA1 and BRCA2 predispose to hereditary breast, ovarian, and possibly prostate cancer, yet structural mutations in these genes are infrequent in sporadic cancer cases.

sporadic


Input: To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP).

sporadic


Input: We integrated the RNA-Seq results with DNA-binding sites of BRD4 generated by chromatin immunoprecipitations, correlated these with gene expressions from human prostate cancers and identified 21 top BRD4 candidate genes among which the oxidative stress pathway genes KEAP1, SESN3 and HDAC6 are represented.

prostate cancers

prostate cancers


Input: In order to precisely localize the susceptible locus for cardiac sarcoidosis within the HLA region, genetic polymorphisms of classical HLA genes, non-classical HLA class II genes such as HLA-DMA and-DMB genes and several genes involved in the class I-mediated antigen presentation pathway (TAP1, TAP2, LMP2 and LMP7) were investigated.

cardiac sarcoidosis


Input: injection of genetically engineered leukemia cells, dendritic cells (DCs) engulfed, processed and presented OVA to OVA-specific CD4 T cells.

leukemia


Input: MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or " pure " encephalopathies with no gross morphological abnormalities in muscle.

RRF

encephalopathies


Input: Compared with those patients without lymph node metastasis, MGMT gene showed a higher proportion of hypermethylation in cancer tissues, whereas P16 gene showed a higher proportion of hypermethylation in remote normal-appearing esophageal tissues in patients with lymph node metastasis.

MGMT gene

esophageal


Input: Clinicopathological variables that might affect the prognosis of gastric cancer patients were analyzed by Cox regression analysis, which showed that MR-1 expression and TNM stage were independent predictors of postoperative survival.

gastric cancer


Input: No relationship of FCRN expression with age at disease onset, age at diagnosis, diagnostic delay, IgG levels or frequency of infections before or during replacement immunoglobulin treatment, the presence of lung functional abnormalities, chronic diarrhea, granulomas, lymphadenopathy, splenomegaly or autoimmune phenomena was observed.

FCRN

infections


Input: As these data suggested that NOX4-derived reactive oxygen species may convey a surprisingly protective effect during plaque progression, we examined a mouse model of accelerated and advanced diabetic atherosclerosis, the streptozotocin-treated ApoE (-/-) mouse, with (NOX4 (-/-)) and without genetic deletion of Nox4.

plaque


Input: Regarding G/A polymorphism at position-2964 in the 5'-flanking region, no significant difference was found in the plasma concentrations of HAL corrected for dose and weight between subjects with G/G (n = 24) and G/A (n = 15) (two-tailed t test: G/G and G/A = 51. 2 +/-16. 6 and 59. 0 +/-17. 6 ng/ml/mg/kg, respectively, df = 28, P =. 22).

HAL

weight


Input: We previously reported work establishing mice lacking the clock gene D-box binding protein (DBP) as a stress-reactive genetic animal model of bipolar disorder.

DBP

bipolar disorder


Input: Elastin microfibril interfacer 1 (EMILIN-1) is a negative regulator of the transforming growth factor-beta (TGF-beta) signaling, which is involved in blood pressure (BP) homeostasis.

Elastin microfibril interfacer 1

blood pressure


Input: In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus.

RET

FMTC

RET

FMTC


Input: Multifocal occurrence, potential malignancy, and genetic aspect should be considered in patients with head and neck PGLs.

PGLs

malignancy


Input: Cystatin B inhibition of TRAIL-induced apoptosis is associated with the protection of FLIP (L) from degradation by the E3 ligase itch in human melanoma cells.

Cystatin B

itch


Input: Mouse models with targeted disruption of Rai1 have recapitulated overt SMS phenotypes, including craniofacial abnormalities, obesity, and neurobehavioral anomalies.

craniofacial abnormalities

craniofacial abnormalities


Input: The chemokine fractalkine (CX (3) CL1) can directly mediate monocyte adhesion and activate VEGF-A and angiogenesis via its receptor CX (3) CR1 on monocytes and endothelium during inflammatory angiogenesis.

adhesion


Input: These H63D homozygotes presented extreme hyperferritinaemia and no additional mutations in HFE, TFR2, FPN1 and HAMP genes were detected.

hyperferritinaemia


Input: We hypothesized that COX inhibitors may attenuate endothelial dysfunction during sepsis, as measured by receptor-mediated bradykinin (BK)-induced vasoconstriction and/or receptor-independent hypoxic pulmonary vasoconstriction (HPV).

COX

hypoxic


Input: Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness.

deafness

deafness


Input: We report a novel duplication of PDHA1 associated with a mild phenotype in a 15-year-old boy who was diagnosed with PDHC deficiency at 4 years of age following a history of seizures and lactic acidosis.

seizures and lactic acidosis


Input: OVA-challenged Tie2-hABCA1 mice had significant reductions in total bronchoalveolar lavage fluid (BALF) cells that reflected a decrease in neutrophils, as well as reductions in peribronchial inflammation, OVA-specific IgE levels, and airway epithelial thickness.

inflammation


Input: Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

Hunter disease

Hunter disease


Input: Significant difference for cyclin D1 expression was found between esophageal carcinomas and the adjacent epithelia.

cyclin D1

esophageal


Input: Limb spasticity, muscle weakness, and intellectual disability have also been observed in PRLTS patients.

PRLTS

muscle weakness


Input: To determine why previously described mutated EYA4 alleles cause SNHL without heart disease, we examined biochemical interactions of mutant Eya4 peptides.

heart disease


Input: NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity.

NBCCS

NBCCS


Input: COPD patients with reversibility had increased sputum neutrophils, IL-8, and TNF-α levels compared to smoking asthmatics.

TNF-α

smoking


Input: ODC genes in L1210 mouse leukaemia cells were apparently more methylated than in Ehrlich ascites carcinoma, as revealed by the use of HpaII endonuclease, yet the digestion of genomic DNA isolated from these two murine tumour cell lines with MspI, which cleaves at a CCGG sequence, also with internally methylated cytosine, resulted in an apparently identical restriction pattern.

ODC

carcinoma


Input: In the metaplasia-dysplasia-adenocarcinoma sequence, a chromosome 17 polysomy without Her-2/neu gene amplification was already present in LGD.

neu gene

metaplasia


Input: In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).

alcohol consumption


Input: The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor.

EWS

translocation


Input: The gene and protein expression of essential haematopoietic growth factors (IL-2, IL-4, IL-7, IL-10, IL-15, IFN-gamma, G-CSFR), their corresponding receptors as well as the expression pattern of adhesion molecules (ICAM-1, CD58) and costimulatory proteins (CD40, CD40L, B7. 1, B7. 2, CD28, MHC-I and II) was analyzed by RT-PCR and flow cytometry.

adhesion


Input: Finnish type familial amyloidosis (FAF) is a neurodegenerative disease, which involves the deposition of D187N or-Y mutant gelsolin fragments as amyloid in various tissues, accompanied by dermatologic, neurologic, and ophthalmologic disorders.

FAF

neurodegenerative disease


Input: This PC-3 variant was used to study tumor progression in an immunocompromised mouse model.

tumor progression


Input: Artesunate also prevented TNF-alpha-induced nuclear NF-kappaB translocation, DNA-binding activity and gene transcriptional activity, as well as phosphorylation and degradation of IkappaBalpha, but phosphorylation of p38 mitogen-activated protein kinase, extracellular signal-regulated kinase and c-Jun N-terminal kinase were unaffected.

TNF-alpha

translocation


Input: The long pentraxin PTX3 as a correlate of cancer-related inflammation and prognosis of malignancy in gliomas.

inflammation


Input: We set out to identify the parental origin of GNAS1 mutations in patients with AHO by searching for their mutation in the overlapping transcripts.

AHO

AHO


Input: The gene encoding Dok1 maps to human chromosome 2p13, which is frequently rearranged in human tumors.

tumors


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.

NDD

NDD


Input: We recently identified a nonselective cation channel, the NC (Ca-ATP) channel, in ischemic astrocytes that is regulated by sulfonylurea receptor 1 (SUR1), is opened by depletion of ATP and, when opened, causes cytotoxic edema.

edema


Input: We report here the identification of distinct missense mutations in a skeletal/ventricular ELC and RLC, each of which are associated with a rare variant of cardiac hypertrophy as well as abnormal skeletal muscle.

RLC

cardiac hypertrophy


Input: We suggest that the diseases due to mutations in GNPTA represent a clinical continuum between ML III and ML II, and the classification of these diseases should be based on the age of onset, clinical symptoms, and severity.

GNPTA

ML III

GNPTA

ML III


Input: This is the first study to look at the relationship of TF and the metaplasia-adenoma-carcinoma sequence (MACS) of gastric cancer in a European population.

MACS

metaplasia


Input: The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.

apolipoprotein A-I

familial hypoalphalipoproteinemia

apolipoprotein A-I

familial hypoalphalipoproteinemia


Input: Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na +/K + balance maintained by downregulation of ENaC activity and upregulation of ROMK.

NCC

mild


Input: HaCat cells were treated with IL-4 at various concentrations for 24h, and PCR gene array on inflammation/autoimmunity was performed three times for analysis of differential gene expression.

inflammation


Input: Moreover, a NR3C2-NR3C1 interaction (P = 0. 002) was found modulating the severity of crack/cocaine withdrawal symptoms.

withdrawal symptoms


Input: CONCLUSIONS: Taken together, our data showed that deregulation of the Robo3 receptor in synovial fibroblasts in RA correlates with aggressiveness of the fibroblasts.

aggressiveness


Input: We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.

FAD

sporadic


Input: Alterations in TMEMs expression have been identified in several types of cancer, but the expression and function of TMEM14A in ovarian cancer is still unclear.

cancer


Input: We investigated whether inhibition of TNF-α augments efficacy of the E1A CR2-deleted adenovirus dl922-947 in ovarian cancer.

adenovirus


Input: Therefore, chromatin remodeling mechanisms at GABAergic gene promoters, including MLL1-mediated histone methylation, operate throughout an extended period of normal human PFC development and play a role in the neurobiology of schizophrenia.

schizophrenia

schizophrenia


Input: Five weeks after transfection, the angiographic score and the number of capillary density in rabbits transfected with Optison using ultrasound was significantly increased as compared with HGF plasmid alone (P < 0. 01), accompanied by a significant increase in blood flow and blood pressure ratio (P < 0. 01).

HGF

blood pressure


Input: Our results failed to demonstrate that the studied PLA2 polymorphisms were associated with an increased risk for BPAD in our sample.

BPAD

BPAD


Input: Taken together, our results implicate the tumor suppressor HIC1 in the transcriptional regulation of the chemokine receptor CXCR7, a key player in the promotion of tumorigenesis in a wide variety of cell types.

tumorigenesis


Input: A " probably sporadic " class (age > or = 54 years and epidermal growth factor receptor (EGFR) negative; 68% of cases) with a 0% chance of BRCA1-related breast cancer containing 79% of the sporadic cases was yielded by using a decision tree with age, Ki67 and EGFR.

EGFR

sporadic


Input: Bezafibrate therapy significantly increased HDL cholesterol levels, reduced triglyceride and insulin resistance levels, and reduced production capacity of TNF-alpha and IL-6, as well as levels of C-reactive protein and fibrinogen.

C-reactive protein

insulin resistance


Input: In the placental hypoxia models, the expression of HIF-1α, NFAT5, and Hsp70 were significantly higher after 3, 6, and 12 h of 1 mM CoCl2 treatment, respectively.

hypoxia


Input: Our results show that NUCB2 plays an important role in tumorigenesis and progression and is a potential molecular biomarker for the diagnosis and targeted therapy of ccRCC.

tumorigenesis


Input: Pretreatment with the mTORC1 inhibitor rapamycin not only alleviated pulmonary arterial pressure and pulmonary arteriolar remodeling but also suppressed hypoxia-induced mTORC1 and Notch3 activation.

hypoxia


Input: Our findings did not suggest association of S100B gene polymorphisms in patients with MDD in China.

MDD

MDD


Input: Here, we show that wild-type BRCA2, but not a tumor-specific truncated mutant BRCA2, synergizes with the nuclear receptor coactivator p160 GRIP1 to enhance transcriptional activation by androgen receptor (AR).

tumor


Input: We investigated the relation among the interleukin (IL)-6 (-174) G/C promoter polymorphism, adipose tissue gene expression of IL6, circulating adiponectin, and systemic insulin sensitivity.

insulin sensitivity


Input: Total and phosphorylated (i. e., activated) form (p-VEGFR-2) of VEGFR-2 proteins were overexpressed in a series of human colorectal cancer cell lines.

colorectal cancer

colorectal cancer


Input: Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

KIF1A gene

sporadic


Input: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.

NF1 gene

sporadic


Input: Almost all correlated to the WASP expression level and severity of infections.

WASP

infections


Input: In 58% of samples, we found deletions in various glucocorticoid signaling pathway-associated genes, but only NR3C1 and ETV6 deletions prevailed in minimal residual disease poor responding and subsequently relapsing cases (p < 0. 05).

minimal residual disease


Input: In vitro experiments show that exposure to hypoxia or treatment with cobalt (CoCl2) also increased protein expression of CTR1, ATP7A, and LOX in pulmonary arterial smooth muscle cells (PASMC).

LOX

hypoxia


Input: Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: In addressing the mechanism by which Snail and Slug lead to loss of intercellular adhesion, specific repression of adherens junction components (E-cadherin and betacatenin), tight junction components (Occludin and ZO-1) and desmosomal junction components (Dsg2) were observed.

Occludin

adhesion


Input: We conclude that FOXP3-mediated suppressor function requires dimerization through the forkhead domain and that mutations in the dimer interface can lead to the systemic autoimmunity observed in IPEX patients.

IPEX

IPEX


Input: Another metastatic sample demonstrated the substitution of proline for threonine at codon 278 (CCT to C/ACT) in addition to a non-mutated codon, while only the wild-type p53 sequence was present in the paired primary gastric tumor tissue.

ACT

gastric tumor


Input: To elucidate the role of p53/p16 (INK4a)/RB1 pathways in the tumorigenesis of primary central nervous system lymphomas (PCNSLs), we have analyzed p14 (ARF), p16 (INK4a), RB1, p21 (Waf1), and p27 (Kip1) status in a series of their 18 sporadic cases of diffuse large B-cell lymphoma, using methylation-specific PCR, differential PCR, and immunohistochemistry.

sporadic


Input: ACE, FTO, AKR1C2, TIMP4 and MMP2 genes have been implicated in previous studies on weight regulation.

weight


Input: While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention.

OPLAH

5-oxoprolinase deficiency

OPLAH

5-oxoprolinase deficiency


Input: Promoter CpG site methylation was observed frequently in both cell lines and tumor tissues including many LOH tumors, suggesting that biallelic inactivation of XAF1 might be common in colorectal cancers.

colorectal cancers

colorectal cancers


Input: Sixty minutes after alteplase infusion, she developed orolingual angioedema.

alteplase

angioedema

alteplase

angioedema


Input: While Aurora-A (Aur A) provokes, BRCA2 restrains primary tumorigenesis, the roles of Aur A and BRCA2 in cancer metastasis remains unclear.

tumorigenesis


Input: The purpose of the present study was to compare influence of central arginine vasopressin (AVP) and of atrial natriuretic peptide (ANP) on control of arterial blood pressure (MAP) and heart rate (HR) in normotensive (WKY) and spontaneously hypertensive (SHR) rats.

ANP

heart rate


Input: Acute ethanol exposure decreased amygdaloid HDAC activity and HDAC2 protein levels, increased global and gene (Bdnf and Arc)-specific histone acetylation, and attenuated anxiety-like behaviors in P rats but had no effects in NP rats.

HDAC

anxiety


Input: In men with CBAVD who are CFTR-negative, ADGRG2 testing could allow for appropriate genetic counseling with regard to the X-linked transmission of the molecular defect.

CBAVD

CBAVD


Input: The hyperemia evoked by intraplantar calcitonin gene related peptide (0. 038-3. 8 ng) was not altered by IL-1 beta (50 pg).

IL-1 beta

hyperemia

IL-1 beta

hyperemia


Input: Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

campomelic dysplasia

campomelic dysplasia


Input: To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years).


Input: The GPR40 mRNA level in the pancreas correlated with the insulinogenic index, which reflects beta cell function (r = 0. 82, p = 0. 044), but not with glucose levels during the OGTT, the insulin area under the OGTT curve or the index for the homeostasis model assessment of insulin resistance (HOMA-IR).

insulin resistance


Input: Studies on primary rodent Sertoli cells and germ cells, as well as testes from CFTR knockout mice or a cryptorchidism model, yield findings indicating the involvement of CFTR in spermatogensis through the HCO (3) (-)/sAC/cAMP/CREB (CREM) pathway and the NF-κB/COX-2/PGE (2) pathway.

CREM

cryptorchidism


Input: We have previously shown that the IGF2 ApaI single nucleotide polymorphism (SNP) associates with weight and body mass index in middle-aged Caucasian males but that there is no such association with the INS-23/HphI site that marks INS 5' variable number of tandem repeats (VNTR) class I vs class III VNTR alleles.

body mass index


Input: We aimed to study an interleukin-6 (IL-6) gene polymorphism in relation to insulin sensitivity (IL-6 is the main cytokine involved in an acute-phase response).

insulin sensitivity


Input: Further quantitative real-time RT-PCR analysis revealed similar expression of sulfotransferases SULT1A2, 1A3, and 1E1 in the paired control and tumor tissues.

tumor


Input: However, the number of proliferating cells in the media and neointima of the ligated PAPP-A Tg artery was reduced by 90% on day 5 postsurgery compared with WT.

PAPP-A

neointima


Input: These findings demonstrate that AM966 is a potent, selective, orally bioavailable LPA (1) receptor antagonist that may be beneficial in treating lung injury and fibrosis, as well as other diseases that are characterized by pathological inflammation, oedema and fibrosis.

LPA

fibrosis


Input: Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.

NF1 gene

sporadic


Input: In view of the appearance of mild withdrawal signs during this method of treatment, the observed increases in ACTH and cortisol levels probably reflect the inability of AES to suppress withdrawal symptoms induced by naloxone completely.

AES

mild


Input: Resistance to fungal infections is attributed to engagement of host pattern-recognition receptors, notably the β-glucan receptor Dectin-1 and the integrin Mac-1, which induce phagocytosis and antifungal immunity.

fungal infections


Input: Adiponectin is an adipocyte-derived protein that acts to reduce insulin resistance in the liver and muscle and also inhibits atherosclerosis.

Adiponectin

insulin resistance

Adiponectin

insulin resistance


Input: At enrollment, blood for host IL-8 genotype, serum for CD anti-toxin A antibody, and stool for IL-8 by enzyme-linked immunosorbent assay were obtained in CDAD patients and in CD-toxin-negative asymptomatic controls.

asymptomatic


Input: Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

idiopathic nephrotic syndrome

idiopathic nephrotic syndrome


Input: A mouse model of the human 5q-syndrome has been generated by large-scale deletion of the Cd74-Nid67 interval (containing Rps14) and the crossing of these' 5q-mice' with p53-deficient mice ameliorated the erythroid progenitor defect.


Input: Here, we investigated the association of CYP1A1 Ile462Val, CYP1B1 Leu432Val, GSTP1 Ile105Val, MPO G-463A polymorphisms and lung cancer risk in never-smoking Korean women.

smoking


Input: Mutations in the TTR gene are also common, one of which causes familial amyloid polyneuropathy (FAP), with peripheral polyneuropathy and frequently, cardiac hypertrophy.

TTR gene

cardiac hypertrophy


Input: Among children with FLG mutations, for each ln unit increase in the house dust peanut protein level, there was a more than 6-fold increased odds of peanut SPT sensitization, CRD sensitization, or both in children at ages 8 years, 11 years, or both and a greater than 3-fold increased odds of peanut allergy compared with odds seen in children with wild-type FLG.

FLG

peanut allergy


Input: This delay is preceded by a reduced inflammation and a polarization of inflammatory cytokines from a Th1-and Th17-dominated profile to a Th2-dominated profile.

inflammation


Input: To test this hypothesis we examined the association of the C-45T promoter polymorphism in the Sp1 binding region of the CCK gene with smoking and BMI in two independent groups of subjects.

CCK gene

smoking


Input: Finally, the MC4R variants T11A, F51L, T112M, and M200V identified from patients with binge eating disorder displayed normal function with regards to the parameters measured in our study.

binge eating disorder


Input: A double-controlled recombinant adenovirus (AdCN103) was constructed by deletion of 24 bp in CR2 region of E1A and replacement of E1A promoter with the modified hTERT promoter.

adenovirus


Input: The p53 tumor suppressor gene seems to have a similar role in the tumorigenesis of most familial and sporadic gliomas.

p53 tumor suppressor gene

sporadic


Input: Our results indicate that somatic BRCA2 mutations, like somatic mutations in the BRCA1 gene, are very rare in primary breast cancers.

breast cancers

breast cancers


Input: Colony-stimulating factor 1 (CSF1) is essential for osteoclastogenesis that mediates osteolysis in metastatic tumors.

osteolysis


Input: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.

congenital insensitivity to pain with anhidrosis

congenital insensitivity to pain with anhidrosis


Input: Expression of Brachyury gene is a significant prognostic factor for primary lung carcinoma.

Brachyury gene

lung carcinoma


Input: Novel SPG20 mutation in an extended family with Troyer syndrome.

Troyer syndrome

Troyer syndrome


Input: TMA oxidation is catalyzed by flavin-containing mono-oxygenase (FMO; refs 7, 8), and tissue localization and functional studies have established FMO3 as the form most likely to be defective in fish-odour syndrome.

mono


Input: We recently showed that Cx32 containing the CMTX-associated mutation, Ser-85-Cys (S85C), forms functional cell-cell channels in paired Xenopus oocytes.

CMTX

CMTX


Input: The purpose of the present study was to investigate the effects of ischaemia and subsequent reperfusion on rat brain and to investigate the effects of two free radical scavengers, CAPE and alpha-tocopherol, on this in vivo model of cerebral injury.

CAPE

ischaemia


Input: Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence.

brachydactyly type E

brachydactyly type E


Input: The hemochromatosis gene affects the age of onset of sporadic Alzheimer' s disease.

hemochromatosis gene

sporadic


Input: To analyze nm23-H1 protein immunohistologically in squamous cell carcinoma of the vulva.

squamous cell carcinoma of the vulva


Input: We reported a second case of t (10; 12)-positive myelodysplastic syndrome in whom fluorescent in situ hybridization confirmed the non-random translocation but molecular biology analyses revealed a ETV6/GOT1 chimera varying from the first case described.

myelodysplastic syndrome


Input: Folate receptor-beta expression as a diagnostic target in human & rodent nonalcoholic steatohepatitis.

Folate receptor-beta

nonalcoholic steatohepatitis

Folate receptor-beta

nonalcoholic steatohepatitis


Input: Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

FUS

juvenile amyotrophic lateral sclerosis

FUS

juvenile amyotrophic lateral sclerosis


Input: Long-term event-free survival (EFS) has been excellent in first remission (CR1) cytogenetically favorable groups, particularly with post-transplant treatment for acute promyelocytic leukemia (APL) patients with all-trans retinoic acid (ATRA; EFS 88%).

acute promyelocytic leukemia


Input: Pick' s disease associated with the novel Tau gene mutation K369I.

Tau

Pick' s disease

Tau

Pick' s disease


Input: Results to date demonstrate: (1) the major histocompatibility complex (MHC: H-2 in mouse, HLA in humans: mouse chromosome 17/human 6p; candidates class II and class III including tumour necrosis factor alpha/beta genes) shows both linkage to, and allelic association with, leprosy per se, but is only weakly associated with visceral leishmaniasis and shows neither linkage to, nor allelic association with, tuberculosis; (2) no evidence for linkage between NRAMP1, the positionally cloned candidate for the murine macrophage resistance gene Ity/Lsh/Bcg (mouse chromosome 1/human 2q35), and susceptibility to tuberculosis or visceral leishmaniasis; (3) the region of human chromosome 17q (candidates NOS2A, SCYA2-5) homologous with distal mouse chromosome 11 is linked to tuberculosis susceptibility; and (4) the " T helper 2 " cytokine gene cluster (proximal murine chromosome 11/human 5p; candidates IL4, IL5, IL9, IRF1, CD14) is not linked to human disease susceptibility for any of the three infections, but shows linkage to and highly significant allelic association with ability to mount an immune response to mycobacterial antigens.

leprosy


Input: Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation.

MIM

exocrine pancreatic insufficiency


Input: These results demonstrate that in the most highly invasive subtype of pancreatic cancer cells (QM-PDA) the selective AhR modulators omeprazole and tranilast inhibit invasion through a nongenomic AhR pathway.

AhR

pancreatic cancer

AhR

pancreatic cancer


Input: Other proteins known to be associated with familial thrombotic disease, including antithrombin III, plasminogen, fibrinogen, and protein C, were normal.

antithrombin III

fibrinogen


Input: Our results are consistent with the tumor target specificity of PhIP and MeIQx and with increased susceptibility to MeIQx-induced liver tumors in rapid NAT2 acetylators.

liver tumors

liver tumors


Input: Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).

leiomyoma


Input: It is the most 5' breakpoint reported in a translocation involving the NUP98 gene.

NUP98 gene

translocation


Input: Activation of the transcription factor NF-kappaB is necessary for full expression of tumor necrosis factor alpha (TNF-alpha)-inducible endothelial chemokines and adhesion molecules.

NF-kappaB

adhesion


Input: 28 different point mutations in the human thyroid hormone receptor beta (TR beta) gene have been associated with GRTH.

thyroid hormone receptor beta

GRTH

thyroid hormone receptor beta

GRTH


Input: The Chitinase 3-like 1 (CHI3L1)-131C > G genotype (rs4950928) is associated with increased asthma susceptibility and severity in adults.

asthma susceptibility


Input: Since the role of Akt and inhibitors of apoptosis proteins (IAPs) in chemoresistance of advanced prostate cancers has been established, we tested the effect of CT on phospho-Akt and survivin levels in PC-3M cells.

CT

prostate cancers

CT

prostate cancers


Input: No differences in P300 amplitude were found between alcoholics and controls unless comorbid depression was present.

depression


Input: We suggest that the disruption of the genomic architecture of cis regulatory elements downstream the TRPS1 5' region, combined with the translocation of a novel enhancer element nearby TRPS1, might be the pathogenetic mechanism underpinning the proband' s phenotype.

translocation


Input: Only 1 of the tested SNP (NOS3 rs3918166) was associated with both migraine and stroke.

stroke


Input: DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

short rib-polydactyly syndrome, type III

short rib-polydactyly syndrome, type III


Input: Obese adult carriers of functionally relevant MC4R mutations do not specifically present with binge-eating disorder or a history of early-onset obesity.

binge-eating disorder


Input: In lysosomes, cathepsin A forms a high-molecular-weight complex with beta-galactosidase and neuraminidase that protects these enzymes against intralysosomal proteolysis.

cathepsin A

weight


Input: To highlight areas for investigation in RASopathies and sporadic tumours with NF1 mutations, we summarize current knowledge of NF1 disease, the NF1 gene and neurofibromin, neurofibromin signalling pathways and recent developments in NF1 therapeutics.

neurofibromin

sporadic


Input: Multivariate logistic regression analysis was used to estimate breast cancer risk associated with the SULT1A1 Arg213His polymorphism alone and in combination with NAT2 genotype in relation to smoking.

smoking


Input: O (6)-Methylguanine-DNA methyltransferase (MGMT) is a suicide enzyme that repairs the pre-mutagenic, pre-carcinogenic and pre-toxic DNA damage O (6)-methylguanine.

MGMT

suicide


Input: Moreover, Cyr61 was upregulated by epidermal growth factor (EGF) but not by R5020 in the PR-MDA-MB-431 mammary adenocarcinoma cell line, underscoring the necessity of PR.

EGF

mammary adenocarcinoma


Input: Interferon-beta (IFN-beta) therapy for MS is hypothesized to cause short-term and long-term changes in gene expression that shift the inflammation from Th1 to Th2.

inflammation


Input: Expression of VEGF protein was greater at p14, when 30% avascular retina existed in the ROP model, compared with room air, when no avascular retina existed, and at p18, when intravitreous neovascularization existed in the model but not in room air (P <. 001 for both).

neovascularization


Input: Another report revealed a strong association between SAA1-13T/C and secondary amyloidosis in the rheumatoid arthritis patient group.

secondary amyloidosis

secondary amyloidosis


Input: The heritability of waist circumference (WC), HDL-cholesterol (HDL-C), triglycerides (TGs), fasting blood sugar (FBS), systolic blood pressure (SBP) and diastolic blood pressure (DBP) as continuous traits after adjusting for age and gender were 27, 46, 36, 29, 25, 26 and 15%, respectively, and MSS had a heritability of 15%.

DBP

systolic blood pressure


Input: Primary mucosal melanoma arising from the eustachian tube with CTLA-4, IL-17A, IL-17C, and IL-17E upregulation.

mucosal melanoma


Input: Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c. 419C > G (p. Ser140Cys), and the rare substitution c. 1098C > A (p. Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state.

OAT

infertile


Input: In multiple linear regression, significant determinants of greater CDR were increasing age, male sex, higher intraocular pressure (IOP), lower diastolic blood pressure, lower body mass index, and previous cataract surgery.

CDR

diastolic blood pressure


Input: These results show that ATF7 interacts with TAF12 and contributes to the hypersensitivity of OCL precursors to 1, 25-(OH) ₂D₃ in PD.

hypersensitivity


Input: In serous ovarian cancer, we make the novel observation that inactivation of BRCA1 and BRCA2 is mutually exclusive of amplification of CCNE1 and inactivation of RB1, suggesting distinct alternative causes of genomic instability in this cancer type; and, we identify RBBP8 as a candidate oncogene involved in Rb-mediated cell cycle control.

genomic instability


Input: Here, we show that the transcription factor T-bet (T-box expressed in T cells) is increased in T cells from patients with aplastic anemia.

transcription factor T

aplastic anemia


Input: With GM-CSF starting on day 1, dose-limiting granulocytopenia occurred during cycle no.

GM-CSF

granulocytopenia

GM-CSF

granulocytopenia


Input: Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway.

MVK

PK

MVK

PK


Input: Previous studies have shown that glioma patients report allergies less frequently than controls, harbor lower atopy-associated IgE levels, and harbor different frequencies of polymorphisms in the IL13 and IL4 pathways than controls.

atopy


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).

endogenous depression

endogenous depression


Input: We report on a patient with molecularly confirmed NS/LAH exhibiting severe short stature associated with GH insensitivity (GHI), and chronic complex tics, a neurological feature never described before in this syndrome.

LAH

tics


Input: Oral nucleoside analogue therapies can suppress fibrosis and reduce HCC incidence by successfully reversing phosphorylated Smad3 signalling; even liver disease progressed to cirrhosis in chronic hepatitis B patients.

HCC

fibrosis


Input: shRNA knockdown of CDCP1 impairs cancer cell migration under hypoxic conditions, whereas overexpression of HIF-2α promotes the growth of tumor xenografts in association with enhanced CDCP1 expression and tyrosine phosphorylation.

hypoxic


Input: High abundance of c-Jun is detected in invasive breast cancer cells and aggressive breast tumor malignancies.

c-Jun

invasive breast cancer


Input: These findings indicate that MLH1 hypermethylation is an early event frequently occurring in hyperplasia without atypia, whereas the PTEN mutation occurs later, mostly in atypical hyperplasia, possibly caused by MLH1 hypermethylation.

hyperplasia


Input: Here we report the prenatal diagnosis of leprechaunism in two unrelated families in which affected children were compound heterozygotes with two different deficient IR alleles.

IR

leprechaunism

IR

leprechaunism


Input: The ischemia-responsive IRE1 protein is thus identified as a key regulator of tumor neovascularization and invasiveness.

ischemia


Input: We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance.

insulin receptor

leprechaunism

insulin receptor

leprechaunism


Input: In conclusion, human activated HSCs utilize components of TLR4 signal transduction cascade to stimulate NF-kappaB and JNK and up-regulate chemokines and adhesion molecules.

NF-kappaB

adhesion


Input: Preliminary analyses have identified 2 proteins with lipoxidative damage, alpha-synuclein and manganese superoxide dismutase (SOD2), in incidentally Lewy body disease cortex.

Lewy body disease

Lewy body disease


Input: [Hypertrophic cardiomyopathy induced by ACTH].

ACTH

Hypertrophic cardiomyopathy

ACTH

Hypertrophic cardiomyopathy


Input: Human esophageal squamous cell carcinoma cell line Eca109 and pancreatic carcinoma cell line BxPC3 cells were transfected with siRNAs targeting ID2 and scrambled control siRNA.

esophageal squamous cell carcinoma


Input: The influence of polymorphic variants in the beta2-adrenergic receptor gene on the cardiovascular response to sympathoexcitation may have important implications in the development of hypertension and heart failure.

heart failure


Input: These data indicate that germline SUFU mutations were responsible for a high proportion of desmoplastic medulloblastoma in children younger than 3 years of age.

SUFU

desmoplastic medulloblastoma

SUFU

desmoplastic medulloblastoma


Input: We genotyped 320 female participants (104 puerperal psychosis probands, 102 bipolar disorder participants and 114 controls) at the serotonin transporter SERT (5-HTT) 5-HTTVNTR and 5-HTTLPR locus; serotonin receptor 2A (5-HT2A)-T102C and His452Tyr loci, the serotonin receptor 2C (5-HT2C)-Cys23Ser locus, and seven unrelated Alu polymorphic markers.

puerperal psychosis


Input: Our findings supported a role of the GSTO1 rs4925 SNP in the risk of sporadic AD in southern Italy, suggesting that this and other variants of the GSTO1 gene could be implicated in AD pathogenesis.

GSTO1 gene

sporadic


Input: Ehd3 was methylated in 63% of AML patients examined.

AML

AML


Input: The results indicated that Arg399Gln polymorphism of XRCC1 gene and Arg415Gln polymorphism of ERCC4 gene may not be associated with smoking-and drinking-related larynx cancer in Polish population.

XRCC1 gene

smoking


Input: Expression of TGIF is increased in leiomyoma compared with myometrium.

TGIF

leiomyoma


Input: Immunoreactive SnoN was detectable in 31 of 59 (52. 5%) esophageal squamous cell carcinoma specimens.

SnoN

esophageal squamous cell carcinoma


Input: The PRRT2 gene was sequenced in 58 family probands/sporadic individuals with PKD/IC, 182 with EA, 128 with HM, and 475 UK and 96 Asian controls.

PRRT2 gene

sporadic


Input: Furthermore, the polyclonal antibody specific to Nectin-2 suppressed the in vitro proliferation of OV-90 ovarian cancer cells, which express endogenous Nectin-2 on the cell surface.

ovarian cancer

ovarian cancer


Input: aPC-SR was inversely correlated (p < 0. 01) with factor VIII and fibrinogen in patients and with prothrombin activation fragment 1. 2 (F1. 2) in controls.

factor VIII

fibrinogen


Input: Tissues from colon adenocarcinoma, adjacent normal and inflammatory tissue and lymph node with metastasis were evaluated for iNOS, MMP-2/9 and Fra-1/Fra-2.

colon adenocarcinoma


Input: Since FAD presents with the same neuropathological features as sporadic AD, i. e., cognitive impairments and the amyloid plaques and tangles in the brain, our working hypothesis is that similar molecular pathogenic mechanisms underly both sporadic and familial AD.

FAD

sporadic


Input: HGFA expression was detected not only in the liver tissues of chronic hepatitis and cirrhosis and in the nontumorous liver tissues surrounding HCC, but also in HCC tissues.

HCC

chronic hepatitis


Input: We therefore hypothesized that overexpression of Cu/Zn-superoxide dismutase (h-SOD1) should protect transgenic mice from ototoxicity.

ototoxicity


Input: Similarly, of these peptides only TRH and MK-771 induced a tremor of the forepaws in pentobarbital-anesthetized mice.

TRH

tremor

TRH

tremor


Input: We identified a novel hypoPP2 mutation that neutralizes an arginine residue in DIII-S4 (R1132Q), and studied its functional consequences in HEK cells transfected with the human SCN4A cDNA.


Input: The results indicate that COMP is the disease susceptibility gene and the c. 2152C > T mutation in exon 18 could cause early-onset OA phenotypes in this kindred, which is compatible with a previous report that this mutation also causes a mild form of multiple epiphyseal dysplasia (MED).

MED

mild


Input: Yeast two-hybrid analysis of binary interactions between FAM161A and an array of ciliary and ciliopathy-associated proteins reveals direct interaction with lebercilin, CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration.

retinal degeneration


Input: CD4 + lymphocyte depletion was induced within 1 week of the SHIV-C2/1 infection in peripheral blood as well as in various lymphoid organs in all the animals tested, with symptoms of diarrhoea and no increase in body weight, followed by intense viraemia.

viraemia


Input: Cardiac-specific gene expression of Nppa (atrial natriuretic factor) and Tbx5 marked the proper morphological locations in the heart regardless of looping abnormalities.

atrial natriuretic factor

abnormalities


Input: H. pylori infection increases the risks of MIF polymorphisms for susceptibility with gastric cancer.

MIF

gastric cancer


Input: Mutations in genes related to malignancy not previously associated with thyroid tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 additional ATC cases and 8 ATC cell lines.

tumorigenesis


Input: Here we show that CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t (4; 19) (q35; q13).

chromosomal translocation


Input: We now report a missense mutation in the intracellular tyrosine kinase domain of RET in the germline of a family with FMTC that does not have a cysteine codon mutation.

RET

FMTC

RET

FMTC


Input: Poly (ADP-ribose) polymerase activity appears to be an inherited trait and abnormalities in it may be one of the susceptibility factors for SLE.

Poly (ADP-ribose) polymerase

abnormalities


Input: Our genetic and functional analyses indicate that germline mutations in SUFU also predispose to meningiomas, particularly to multiple meningiomas.

SUFU

meningiomas

SUFU

meningiomas


Input: The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.

Lafora disease

Lafora disease


Input: Previously, we established a survivin promoter-regulated oncolytic adenovirus that has inhibitory effect on HCC growth.

HCC

adenovirus


Input: To assess the relationship between IL-6 and PAI-1 polymorphisms and coronary artery disease (CAD) and to observe the interactions between these polymorphic variants and smoking in the CAD risk.

smoking


Input: The ACT-TT genotype was more prevalent in patients than in asymptomatic or symptomatic control subjects: 26%, 15%, and 16%, respectively.

ACT

asymptomatic


Input: This study aimed to investigate CHRNA3 (rs8040868) and PHACTR2 (rs9390123) single-nucleotide polymorphisms (SNPs) for association with non-small-cell lung cancer (NSCLC) risk in a Chinese population, and whether the environment affects the genetic polymorphisms.

lung cancer


Input: We show that genes known to be involved in anti-inflammatory and protective mechanisms such as STAT6, JAK1, IL-4R, IL-10, Chromogranin C and Hif-1alpha are consistently upregulated in the multiple sclerosis NAWM.

Chromogranin C

multiple sclerosis


Input: Non-diabetic women with the polycystic ovary syndrome (PCOS), a common endocrine disorder that is associated with insulin resistance, similarly demonstrate lower levels of SHBG.

SHBG

insulin resistance


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

RANTES

atopic


Input: Concentration of cirDNA and methylation of RARbeta2, RASSF1A and HIC-1 gene promoters were investigated in cell-free and cell-surface-bound fractions from healthy donors, patients with breast cancer, and patients with breast fibroadenoma.

HIC

breast fibroadenoma


Input: With placebo treatment, 90 min of partial hepatic ischemia followed by 24 hr of reperfusion resulted in increased levels of serum OCT (760 +/-521 IU/liter) and ALT (4327 +/-1982 IU/liter), while extensive hepatic necrosis was evident by TNBT and H & E staining.

OCT

hepatic necrosis


Input: PPAR-gamma, by increasing superoxide dismutase/catalase and decreasing nicotinamide adenine dinucleotide phosphate oxidase levels, attenuated ischemia-induced reactive oxygen species and subsequently alleviated the postischemic degradation of Bcl-2, Bcl-xl, and Akt.

nicotinamide adenine dinucleotide phosphate oxidase

ischemia


Input: In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.

ASA

MLD

ASA

MLD


Input: p53 expression was detected in 20/26 (77%) BRCA1-, 10/22 (45%) BRCA2-associated and 25/72 (35%) grade-matched sporadic tumours.

sporadic


Input: Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.

systemic lupus erythematosus

systemic lupus erythematosus


Input: Recent studies have highlighted the importance of CTIP2 in several other pathologies, such as cardiac hypertrophy and various types of human malignancies.

cardiac hypertrophy


Input: Recent studies have shown that an antiinflammatory cytokine, interleukin-4 (IL-4), is expressed and exerts various modulatory effects in CNS inflammation.

inflammation


Input: In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect.

progressive cardiac conduction defect

progressive cardiac conduction defect


Input: Association of DAO and G72 (DAOA)/G30 genes with bipolar affective disorder.

DAO

bipolar affective disorder

DAO

bipolar affective disorder


Input: Similar to the molecular pathology of SDS, mutant EFL1 proteins do not promote the release of cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes.

SDS

SDS


Input: In vitro, HGF abrogated monocyte adhesion to TNF-alpha-activated endothelial monolayers and suppressed endothelial expression of E-selectin, which depended on NF-kappaB signaling.

NF-kappaB

adhesion


Input: In Ewing' s sarcoma and related peripheral primitive neuroectodermal tumors, a (11; 22) (q24; q12) translocation is associated with hybrid transcripts of the EWS gene with the FLIl gene.

EWS gene

translocation


Input: Nine of 12 patients with HCC with aberrant Pi type had cirrhosis; 5 of the 9 had cirrhosis due to hepatitis B virus; 2 of the 9 had alcoholic liver disease with cirrhosis, and 2 had cryptogenic cirrhosis.

HCC

cryptogenic cirrhosis


Input: The effects of PPARgamma on HCC cell growth and apoptosis were examined using PPARgamma-expressing adenovirus (Ad-PPARgamma).

HCC

adenovirus


Input: Therefore, sporadic cases showing p53 + cells > Ki-67 + cells revealed alteration of the p53 gene, and expressed abnormal p53 protein (mutant form).

p53 gene

sporadic


Input: Overall, our investigations suggest that DNA methylation and other mechanisms combine to regulate GGT gene expression in studied prostate adenocarcinoma derived cells.

GGT

prostate adenocarcinoma


Input: This study determined if the Ad5-induced inhibition of IFN-MCP was independent of adenovirus (Ad) infection and secondary only to the expression of the Ad early region 1A gene (E1A).

MCP

adenovirus


Input: The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys).

factor X

factor X deficiency

factor X

factor X deficiency


Input: Moreover, there were no secondary effects in HLA-DRB3, HLA-DRB4, or HLA-DRB5 in RA or SLE.

secondary


Input: We hypothesized that radiation-induced thoracic toxicity (RITT) of the lung, esophagus and pericardium share a similar mechanism, and aimed to examine whether genetic variation of transforming growth factor-beta1 (TGFβ1), tissue plasminogen activator (tPA) and angiotensin converting enzyme (ACE), are associated with RITT in patients with non-small-cell lung cancer (NSCLC).

ACE

thoracic


Input: We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux.

mild proteinuria


Input: Functionally, Wnt5a lowers the concentration of IFN required to induce target genes, and increases the magnitude of IFN target gene induction, suggesting a molecular mechanism underlying IFN hypersensitivity in psoriasis.

hypersensitivity


Input: The genetic analysis identified two variants near TRIB1 gene that independently contributed to both blood lipid levels and to TST (rs17321515, P = 8. 92 (*) 10 (-5), Bonferroni corrected P = 0. 0053, β = 0. 081 h per allele; rs2954029, P = 0. 00025, corrected P = 0. 015, β = 0. 076; P < 0. 001 for both variants after adjusting for blood lipid levels or body mass index).

TST

body mass index


Input: Nearly half of the sporadic fibrothecomas showed evidence of CpG promoter methylation, suggesting promoter downregulation as one mechanism of reduced TRIM37 expression.

sporadic


Input: We concluded that NK-1 and B2 receptors can regulate important steps in the local and remote inflammation during acute pancreatitis induced by sPLA2.

inflammation


Input: An electrophoretic gel mobility shift assay showed a decrease in the cAMP response element (CRE)-DNA binding activity of CREB in the ischemic region on the third day after the microsphere embolism.

CREB

embolism


Input: STBM prepared by placental lobe dual perfusion (pSTBM) and mechanical disruption (mSTBM) were analysed by four colour flow cytometry (4CFC), nanoparticle tracking analysis (NTA) and Western blotting to determine vesicle size, purity and Flt-1 and endoglin (Eng) expression.

STBM

vesicle


Input: A reciprocal translocation, (12; 16) (q13; p11), is characteristic of the myxoid subtype of liposarcoma, whereas translocations within 12q13-14 are frequently observed in benign lipomas.

lipomas


Input: Importantly, it was previously suggested that hypoxic cancer cells may be particularly sensitive to CHK1 inhibition.

hypoxic


Input: This study examines the expression of IFN-gamma, IL-4 and IL-13 mRNA in freshly isolated PBMC from adult patients with AD, from patients with psoriasis vulgaris and from healthy adults, using the semiquantitative reverse transcriptase-polymerase chain reaction (RT-PCR) method.

psoriasis vulgaris


Input: To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle.

COX

recurrent myoglobinuria


Input: Although Mammaglobin B gene expression levels were higher in endometrioid, mucinous and undifferentiated tumors when compared to serous papillary tumors, clear cell tumors and those with mixed histology, these differences were not statistically significant.

Mammaglobin B

tumors


Input: We aimed to determine whether first-degree relatives of type 2 diabetic subjects differ in insulin sensitivity from control subjects without a family history of diabetes, whether first-degree relatives of type 2 diabetic subjects and control subjects differ in CRP, adiponectin, and complement levels, and whether CRP is related to insulin sensitivity independently of adiposity.

CRP

insulin sensitivity


Input: Patients with locally recurrent or metastatic, radioiodine-refractory thyroid cancer, excluding medullary carcinoma, were treated with interferon alpha-2b 12 million units/m2 subcutaneously on days 1-5 and doxorubicin 40 mg/m2 intravenously, on day 3, every 28 days.

interferon alpha-2b

thyroid cancer

interferon alpha-2b

thyroid cancer


Input: The following variables were analyzed: gender, donor and recipient ages, immunosuppressant, genotype, treatment duration, early viral response (EVR), pretreatment viral load, degree of fibrosis, levels of alanine aminotransferase and gamma-glutamyltransferase (IU/L), time since liver transplantation (OLT), use of stimulating factors (epoetin and granulocyte colony stimulating factor [G-CSF]) and side effects, and their association with SVR.

granulocyte colony stimulating factor

viral load


Input: With adjustment for NAT1 genotype and race, the smoking-adjusted geometric mean level of 3-ABP-hemoglobin adducts in NAT2 slow acetylators was 47% higher than that in NAT2 rapid acetylators (P = 0. 01).

smoking


Input: Kaplan-Meier analysis and Cox proportional hazards regression models were used to investigate the correlation between FAT10 expression and prognosis of PDAC patients.

regression


Input: The combined analysis of phase II detoxification system genes: arylamine N-acetyltransferase 2 (NAT2), and glutathione S-transferases (GST) M1 and T1 was carried out in patients with minimal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls (n = 72) of French origin, using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

GST

mild


Input: In contrast, knockdown of VILIP-1 inhibits the development of bone cancer pain via downregulation of P2X3 receptors and repression of DRG excitability in MRMT-1 rats.

DRG

bone cancer


Input: The beta-adrenoceptor Galphas protein system plays an important role in heart rate regulation and lipid mobilization suggesting a key role for the stimulatory G protein Galphas in body weight regulation.

stimulatory G protein

body weight


Input: Natural killer (NK) group 2D (NKG2D) is a key activating receptor expressed on NK cells, whose interaction with ligands on target cells plays an important role in tumorigenesis.

tumorigenesis


Input: The tumor cell embolus (IBC spheroid), in contrast, fails to bind the surrounding vascular endothelial cells both in vitro and in vivo because of markedly decreased sialyl-Lewis X/A carbohydrate ligand-binding epitopes on its overexpressed MUC1 which are necessary for binding endothelial cell E-selectin.

embolus


Input: Immunostaining experiments using a LOX-specific antibody on EMT-6 cells cultured under hypoxic conditions confirmed the elevation of LOX expression in these cells.

LOX

hypoxic


Input: This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.

sitosterolemia

sitosterolemia


Input: Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.

Bladder Cancer

Bladder Cancer


Input: Previous studies suggested an upregulation of KLK10 and KLK6 in pancreatic ductal adenocarcinoma (PDAC).

pancreatic ductal adenocarcinoma


Input: Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.

obese

obese


Input: A similar interaction was observed for the BDNF SNP cluster and the CC intervention on aggression (β =-. 14, p <. 05).

BDNF

aggression


Input: We investigated dehydration-induced changes in the SON and pituitary neurointermediate lobe (NIL) proteomes using two-dimensional fluorescence difference gel electrophoresis.

SON

dehydration


Input: Bronchial mucosal expression of the genes encoding chemokines RANTES and MCP-3 in symptomatic atopic and nonatopic asthmatics: relationship to the eosinophil-active cytokines interleukin (IL)-5, granulocyte macrophage-colony-stimulating factor, and IL-3.

RANTES

atopic


Input: The positive rate of p14ARF expression was higher in SCC (83%) than in normal/inflammation of the cervix (25%; P < 0. 05).

inflammation


Input: Four cell lines-PC-3-Bcl-2 (Bcl-2 overexpression, deleted PTEN), PC-3-Neo (wild-type Bcl-2, deleted PTEN), LNCaP (Bcl-2 overexpression, deleted PTEN), and DU-145 (wild-type Bcl-2 and PTEN)-were transduced with a recombinant adenovirus-5 vector expressing the human wild-type PTEN cDNA under the control of a human cytomegalovirus promoter (Ad-MMAC).

adenovirus


Input: Thus, we developed an oncolytic adenoviral vector, AdCN205, to co-express miRNA-34a and IL-24 driven by an adenovirus endogenous E3 promoter in HCC cells.

HCC

adenovirus


Input: We sought to determine whether environmental peanut exposure increases the odds of peanut allergy and whether FLG mutations modulate these odds.

FLG

peanut allergy


Input: In the present study, we examined the in vitro expression, induction and function of Epo and EpoR in papillary (NPA), follicular (WRO) and anaplastic (ARO-81) thyroid cancer cells.

Epo

thyroid cancer

Epo

thyroid cancer


Input: To further investigate whether reduced 5-HTT function could be an endophenotype in manic depressive illness, we looked for abnormalities of platelet 5-HTT among subjects who are potential carriers of genetic vulnerability to manic depressive illness (MDI).

abnormalities


Input: Individuals affected with the neurofibromatosis 1 (NF1) tumor predisposition syndrome are prone to the development of multiple nervous system tumors, including optic pathway gliomas (OPG).

OPG

gliomas


Input: Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

Wilms tumour

Wilms tumour


Input: Multiple regression analysis indicated that the MCP-1 levels were significantly influenced by various factors including age, body mass index, smoking, alcohol intake, high density lipoprotein-cholesterol, and systolic blood pressure.

body mass index


Input: One of the most replicated asthma candidate genes is ORM1-like 3 (Saccharomyces cerevisiae) (ORMDL3), which has been associated with childhood asthma susceptibility.

asthma susceptibility


Input: MBL2 B allele was significantly associated with severity of gastric mucosal atrophy and intestinal metaplasia (atrophy, G/G vs. G/A vs. A/A; P = 0. 02, A/A vs. others; P = 0. 009, intestinal metaplasia; G/G vs. G/A vs. A/A; P = 0. 03, A/A vs. others; P = 0. 004).

atrophy


Input: Both the decrease of αKG and accumulation of D:-2-HG inhibit the activity of multiple dioxygenases including prolyl hydroxylase domain-2 (PHD2), collagen prolyl-4-hydroxylase, histone demethylases, and the ten-eleven translocation (TET) family of 5-methylcytosine hydroxylases.

translocation


Input: The observed correlation between the antiproliferative activity of PRP-1 and its action on downregulation of miR302c explains the peptides opposite effects on the upregulation of proliferation of adult mesenchymal stem cells, and the inhibition of the proliferation of human bone giant-cell tumor stromal cells, reported earlier.

giant


Input: Mutations affecting PPP2R1B were found in four breast carcinomas, while mutations in PPP2R1A were found in carcinomas of the breast and of the lung and in one melanoma.

carcinomas


Input: The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse.

fragile X syndrome

fragile X syndrome


Input: Adenoviral-mediated gene transfer of Gadd45a results in suppression by inducing apoptosis and cell cycle arrest in pancreatic cancer cell.

pancreatic cancer

pancreatic cancer


Input: The purpose of this study was to investigate whether protein expression of bone morphogenetic protein 7 (BMP7) is associated with clinico-pathologic characteristics in benign and malignant melanocytic skin tumors.

skin tumors


Input: We also examined changes in sensory TRP agonist-specific acute licking/flicking or flinching behaviours and mechanical and thermal pain behaviours using Hargreaves, Randall-Selitto and von Frey assay systems in the absence and presence of inflammation.

TRP

inflammation


Input: Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB.

COB

abnormalities


Input: We conclude that women who are' QQ' homozygote for the MTHFD1 1258G--& gt; A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are' RQ' or' RR.'

abruptio placentae

abruptio placentae


Input: The 3p21. 1-p21. 3 hereditary vascular retinopathy locus increases the risk for Raynaud' s phenomenon and migraine.

retinopathy


Input: Prominent reactions of monocyte/macrophage lineage cells admixed with CD4 + and CD8 + T cells (granulomatous angiitis) were occasionally associated with beta-protein angiopathy.

angiopathy


Input: The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory.

ASA

metachromatic leukodystrophy

ASA

metachromatic leukodystrophy


Input: Here we describe a novel mutation in the ATP2B3 gene in a patient with global developmental delay, generalized hypotonia and cerebellar ataxia.

ATP2B3 gene

generalized hypotonia


Input: Unique association of myeloid neoplasm with eosinophilia and abnormalities of PDGFRA with TTP.

PDGFRA

abnormalities


Input: It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY.

sex reversal


Input: Repair enhancement may explain chemoresistance, while loss of efficiency of certain functions, such as PRR, due to the intrinsic genetic lability of tumor cells, may generate the class of melanoma subclones exhibiting only normal resistance.

PRR

melanoma


Input: Interestingly, GRIA1 mRNA was significantly increased in both cell types in the schizophrenia group compare to controls, while similar trends were observed in major depressive disorder (Layers II/III and V) and bipolar disorder (Layer V).

bipolar disorder

bipolar disorder


Input: First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

cerebro-oculo-facio-skeletal syndrome

cerebro-oculo-facio-skeletal syndrome


Input: The implied disruption of neuronal excitability is consistent with some features of HAD, including its potential reversibility after HIV-1 replication is suppressed, the abnormal electroencephalographic recordings, the lack of clear-cut correlation with neurodegeneration and the lack of strict correlation with brain inflammation.

HAD

neurodegeneration


Input: Eight months after reoperation, plasma concentrations of IGF-I and IGF-II were normal, and high-molecular-weight IGF-II was virtually undetectable.

IGF-I

weight


Input: Patient factor VIII, von Willebrand factor, (vWF), fibrinogen, F1. 2 and D dimer were all significantly increased (p < 0. 01; antithrombin III, protein C and proteins were similar to controls.

factor VIII

fibrinogen


Input: Among subjects with different PP1 G subunit genotypes, there was no difference in blood pressure, serum cholesterol, plasma glucose and insulin levels, and glucose disposal rate estimated by the euglycemic hyperinsulinemic clamp test.

blood pressure


Input: The frequency of IL-4 + IFN-gamma-IL-10-CD4 + cells (Th2) was significantly higher in the group with mild atopic asthma than in that with mild non-atopic asthma.

mild


Input: IL-4 induced a reduction in synovial tissue vessel density, which was paralleled by a decrease in inflammation.

inflammation


Input: The main feature of the Tg-A2aR/Tg-E7 mice is the rapid occurrence of malignant lesions, and the dissemination of malignant thyroid tissue through the blood stream, generating multiple differentiated and functional metastases in the lung.

metastases


Input: We now demonstrate complete linkage of Gitelman' s syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects.

thiazide-sensitive Na-Cl cotransporter

Gitelman' s syndrome

thiazide-sensitive Na-Cl cotransporter

Gitelman' s syndrome


Input: The seventh pathogenic fusion gene FIP1L1-RARA was isolated from a t (4; 17)-positive acute promyelocytic leukemia.

acute promyelocytic leukemia

acute promyelocytic leukemia


Input: The aim of this study is to verify whether the combination of glutathione S-transferase (GST) M1 null and GSTT1 null genotypes, which is a candidate genetic risk factor for troglitazone-induced liver failure, is common to that for the carbamazepine-induced mild hepatotoxicity.

GST

mild


Input: Promoter specific DNA methylation and gene expression of POMC in acutely underweight and recovered patients with anorexia nervosa.

POMC

underweight


Input: Here, we employed both cellular and in vivo assays to examine the effect of Nm23H1 and H2 on tumorigenesis induced by oncogenic Ras and/or p53 deficiency.

tumorigenesis


Input: Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease.

Enhanced S-cone syndrome

Enhanced S-cone syndrome


Input: A novel mutation in the TTID gene results in the clinical and pathologic phenotype termed " spheroid body myopathy. "

TTID

spheroid body myopathy

TTID

spheroid body myopathy


Input: Immune activation, CD4 + T cell counts, and viremia exhibit oscillatory patterns over time in patients with highly resistant HIV infection.

viremia


Input: Treatment with figitumumab led to the dissociation of IGF1-dependent heterodimeric receptors and inhibited tumor growth with decreased levels of heterodimeric receptors in a mouse xenograft model.

dissociation


Input: Granulysin was only expressed in the lung and not in other organs following inhalation of rAdhGLi.

Granulysin

inhalation


Input: Of the 43 samples with translocations detected, 26 (60%) had an EWS-FLI1 type 1 translocation, 13 (30%) had an EWS-FLI1 type 2 translocation, 3 (7%) had an EWS-ERG translocation, 1 had an EWS-ETV1 translocation, and 1 sample had both an EWS-FLI1 type 1 and type 2 translocation.

EWS

translocation


Input: The messenger RNA and protein expression of SERCA were down-regulated (p & lt; 0. 01), but the expression of phospholamban messenger RNA and protein were up-regulated (p & lt; 0. 01) in MI rats compared to sham-operated rats.

phospholamban

MI

phospholamban

MI


Input: Overall, fibroblasts exhibited a significant decrease in protein expression of all PKA subunits except for PRKAR1A, a pattern that has been associated with neoplastic transformation in several cell types.

neoplastic transformation


Input: VEGF and Flk-1 play an important role in the pathogenesis of DN, of which over-expression may lead to the damage of kidney.

DN

DN


Input: The 469 E/K polymorphism is in exon 6 and results in a change from glutamic acid to lysine in Ig-like domain 5 of ICAM-1, which is thought to affect interactions with LFA-1 and adhesion of B-cells.

adhesion


Input: These results suggest that the ITGA8 gene might have gender-specific roles in the development of schizophrenia.

schizophrenia

schizophrenia


Input: HepG2-ALR cell-derived subcutaneously grown tumors displayed fewer necrotic areas, more epithelial-like cell growth and fewer polymorphisms and atypical mitotic figures than tumors derived from HepG2 cells.

ALR

necrotic


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

adhesion


Input: Increased expression of the genes for pregnancy-associated plasma protein A (PAPPA), tomoregulin, cellular retinoid acid binding protein 1 (CRABP1), zinc finger protein 185 (ZFP 185) and latent transforming growth factor beta binding protein 2 (LTBP2) was demonstrated in individual leiomyoma samples compared with corresponding myometrium.

PAPPA

leiomyoma


Input: However, a smoking and age-stratified analysis, revealed a statistically significant association between MDR1 genotypes and colorectal cancer in life-long non-smokers with an age > or = 63 years (the median age in our sample).

smoking


Input: Hypertryptophanemia due to tryptophan 2, 3-dioxygenase deficiency.

tryptophan 2, 3-dioxygenase

Hypertryptophanemia

tryptophan 2, 3-dioxygenase

Hypertryptophanemia


Input: Two days after global ischaemia CA1, CA3, dentate gyrus and cerebral cortex were obtained from sham-operated and I/R-injured 3-and 18-month-old Sprague-Dawley rats.

ischaemia


Input: GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the beta-hexosaminidase A or the GM2 activator, a glycolipid binding protein.

GM2 activator

neurological disorders


Input: Among the six adhesion molecules examined (LFA-1, ICAM-1, CLA, VLA-4, L-selectin and CD44), L-selectin increased the incidence of lymph node metastasis, and CD44 expression was related to both lymph node and organ (hematogenous) metastasis.

adhesion


Input: Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.

tumorigenesis


Input: The SNAP-25 gene may be associated with clinical response and weight gain in antipsychotic treatment of schizophrenia.

weight gain


Input: The EMMPRIN scores in malignant ovary tumors were significantly higher than their nontumor counterparts (313 +/-28 for serous adenocarcinoma; 308 +/-25 for mucinous adenocarcinoma; 187 +/-19 for endometrioid adenocarcinoma; 265 +/-23 for yolk sac tumors; 87 +/-13 for clear cellcarcinoma; 126 +/-15 for dysgerminoma; 243 +/-26 for granulosa cell tumor; 87 +/-16 for transitional cell carcinoma).

EMMPRIN

granulosa cell tumor


Input: Inactivation of the effectors of replicative senescence, i. e. genes encoding one or more elements of the p16/pRB and/or ARF/p53/p21 anti-proliferative pathways, is required for telomerase depression leading to immortalization.

ARF

depression

ARF

depression


Input: Seven additional ARMC5 variants were subsequently identified in 5 of 21 patients with apparently sporadic PMAH and in 2 of 3 families with the disease.

sporadic


Input: Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14. 1-q22. 3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions.

MYCN

synophrys


Input: Genetic alteration of p53, but not overexpression of intratumoral p53 protein, or serum p53 antibody is a prognostic factor in sporadic colorectal adenocarcinoma.

sporadic


Input: Clarifying the novel regulatory mechanisms of fibrosis by the cytokine network consisting of TGF-β and IL-17A may lead to a new therapeutic approach for this disease.

fibrosis


Input: KCNE1 mutations may be associated with mild LQTS phenotypes, and KCNE1 gene screening is of clinical importance for asymptomatic and mild LQTS patients.

KCNE1 gene

asymptomatic


Input: Ovarian carcinomas from 30 BRCA1 germ-line carriers of two distinct high penetrant founder mutations, 20 carrying the 1675delA and 10 the 1135insA, and 100 sporadic cases were characterized for somatic mutations in the TP53 gene.

TP53 gene

sporadic


Input: Comparison of relative TLR-2 and TLR-4 expression level of disease and healthy gingival tissue of smoking and non-smoking patients and periodontally healthy control patients.

smoking


Input: In the brain microvascular endothelial cells, hypoxia increased SUR1 abundance and expression of functional SUR1-regulated NC (Ca-ATP) channels.

hypoxia


Input: We investigated the genetic mechanisms behind the second event in breast tumors from 17 BRCA1 and eight BRCA2 germ-line mutation carriers, as compared with 21 sporadic breast tumors.

sporadic


Input: The cardiac troponin I-interacting kinase (TNNI3K), a novel cardiac specific kinase, is associated with cardiomyocyte hypertrophy.

cardiomyocyte hypertrophy


Input: MXI1 thus displays allelic loss and mutation in some cases of prostate cancer that may contribute to the pathogenesis or neoplastic evolution of this common malignancy.

prostate cancer

prostate cancer


Input: NK cells showed up-regulated cytotoxic activity toward various squamous oral cell carcinoma (OSC-70, HSC-2, HSC-3), and we determined that both IL-12 and IFN-gamma contributed to the CD40L-DC-mediated NK cell activation.

OSC

carcinoma


Input: MiR-143/145 is down-regulated in cervical cancer, which may serve as a tumor suppressor by targeting KRAS and Ras-responsive element-binding protein (RREB1).

cervical cancer


Input: High DNMT1 and DNMT3b expression was found in 105/127 (83%) and 79/127 (62%) carcinomas, respectively.

carcinomas

carcinomas


Input: The levels of CR1, DAF, and CD59 on E were analyzed in 176 HD patients with DMN, 101 HD patients with non-diabetes mellitus renal diseases (non-DMN), and 108 healthy individuals.

renal diseases


Input: The IGF2BP2 gene expression levels were assayed in 34 patients with chronic schizophrenia and 30 healthy controls by using real-time polymerase chain reaction (PCR).

chronic schizophrenia

chronic schizophrenia


Input: STAT3 inhibition was also effective in treating an RA model, collagen-induced arthritis, in vivo through significant reduction in expression of IL-6 family cytokines and RANKL, inhibiting both inflammation and joint destruction.

collagen-induced arthritis

collagen-induced arthritis


Input: Because the RAR alpha gene is mutated in all AML-M3 patients studied so far and because it is often the only mutation identified, several proposed mechanisms of leukemogenesis have evolved.

alpha gene

leukemogenesis


Input: CONCLUSION: These results suggest that the oncogenic effect of the t (6; 22) translocation is due to the EWS-Oct-4B chimeric protein, and that alternative fusion of the EWS amino terminal domain to the Oct-4 DNA-binding domain produces another transforming chimeric product in human epithelial tumours.

EWS

translocation


Input: Cytosolic, but not mitochondrial, oxidative stress is a likely contributor to cardiac hypertrophy resulting from cardiac specific GLUT4 deletion in mice.

cardiac hypertrophy

cardiac hypertrophy


Input: Using the polymerase chain reaction and the restriction fragment length polymorphism method, we screened for E318G mutation in a total of 16 familial (FAD) cases, in 64 sporadic neuropathologically confirmed AD cases and in 270 non-demented controls including 35 neuropathologically confirmed individuals.

FAD

sporadic


Input: This study aims at defining the role of microglial kinin B1R in diabetic pain neuropathy.

neuropathy


Input: The tissue transcript levels of VEGF, HIF-1α and endostatin were found to be significantly higher in HCC in comparison to cirrhosis and chronic hepatitis.

HCC

chronic hepatitis


Input: In addition, the CC group was subcategorized into chronic hepatitis and HCC subgroups.

HCC

chronic hepatitis


Input: Some information of these subjects including demographic; history of disease, family history of diseases, lifestyle and behavior style variables was obtained by questionnaire; some variables were measured, including systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting blood glucose (FBG), quantity of protein in 24h urine.

DBP

systolic blood pressure


Input: The mRNA levels of IL-4 and IL-10 were very low compared to those of IL-12 in seven of the 30 patients with RA; all of these patients were in stage 4, and serum levels of CRP, ESR and blood platelet count which are considered as indices of the severity of inflammation, were significantly elevated in these seven patients compared to the other 23 RA patients.

inflammation


Input: Pranlukast, tacrolimus and dexamethasone significantly inhibited production of TNF-alpha and nuclear-translocation of NF-kappa B in PBM of atopic asthmatics (P < 0. 01).

TNF-alpha

translocation


Input: TDT showed weak evidence of allelic association between endometriosis and rs500760 (P = 0. 027) but not in the expected direction.

TDT

endometriosis


Input: Five of these deregulated genes (LEPRE1, MICAL2, RAB23, STXBP1, SYTL1) were specifically deregulated in FGFR3-non-mutated muscle-invasive tumors.

tumors


Input: In animal models, the leptin (LEP) and the leptin receptor (LEPR) genes have been shown to be very important in obesity because leptin functions as a negative feedback signal in regulating body-weight through reducing food intake and stimulating energy expenditure.

LEP

weight


Input: One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.

craniosynostosis (Boston type

craniosynostosis (Boston type


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

smoking


Input: A novel, rapid, and accurate method for detecting microdeletion involving the DAZ gene in infertile men.

DAZ

infertile


Input: In the whole-study sample, a positive association of HTR2A gene methylation with waist circumference and insulin levels was detected at baseline.

HTR2A gene

waist circumference


Input: There are lower levels of GAS5 and higher levels of miR-21 in HCC cell lines (Be7402, SMMC-7721, and HCCLM3) than in normal liver L-02 cells, and the levels correlate with the aggression of the HCC cell lines.

HCC

aggression


Input: EphB4 activation enhanced P selectin glycoprotein ligand-1 (PSGL-1) expression and EPC adhesion.

adhesion


Input: Histological examination after PDT of normal retina and choroid using targeted verteporfin and irradiation at 1 hour showed minimal effect on retinal pigment epithelium and no injury to photoreceptors, whereas PDT using verteporfin-PVA resulted in retinal pigment epithelium necrosis and mild damage to photoreceptors.

PVA

necrosis


Input: Class I beta-tubulin gene mutation with amino acid substitution was not detected in 82 breast cancer specimens.

Class I beta-tubulin

breast cancer


Input: These in vitro data were confirmed in an in vivo uPAR knock out Plaur (-/-) mice model by demonstrating that the infusion of suPAR inhibits expression of nephrin and WT-1 in podocytes and induces proteinuria.

Plaur

proteinuria


Input: This study is to investigate the association of fibroblast growth factor receptor 2 (FGFR2) rs2981582, trinucleotide-repeat-containing 9 (TNRC9) rs3803662, rs12443621, and leukocyte-specific protein 1 (LSP1) rs3817198 polymorphisms with breast cancer and mammographic density in Han Chinese population.

mammographic density


Input: The relationship of the apolipoprotein E gene polymorphism in Turkish Type 2 Diabetic Patients with and without diabetic foot ulcers.

apolipoprotein E gene

diabetic foot ulcers


Input: Although we found no compelling evidence that TTV was the direct cause of ARD in some of the children studied, the average loads of TTV were considerably higher in patients with bronchopneumonia (BP) than in those with milder ARD, raising interesting questions about the pathophysiological significance of TTV at this site.

TTV

bronchopneumonia


Input: These results suggest the possible utility of LPA (1) as a drug target to interfere with progression of prostate cancer.

LPA (1

prostate cancer

LPA (1

prostate cancer


Input: Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: Furthermore, viral-mediated HDAC5 overexpression in the hippocampus blocked imipramine' s ability to reverse depression-like behavior.

depression

depression


Input: To develop a clinically applicable method that can predict the pathogenicity of VUS that does not require familial information or segregation analysis, we identified characteristics of breast or ovarian tumors that distinguished sporadic tumors from tumors with BRCA1 or BRCA2 mutations.

sporadic


Input: FoxP3 and CD3 expression and location were determined in stage II and III colon carcinomas (n = 160) and normal mucosa (n = 25) by immunohistochemistry; CD4 and FoxP3 were localized by dual immunofluorescence microscopy.

carcinomas


Input: We conclude that osteosclerosis in IMF is associated with increased endothelial OPG expression without concomitant RANKL downregulation.

RANKL

osteosclerosis


Input: Our previous studies have shown that (i) CARF is up-regulated during replicative and stress-induced senescence, and its exogenous overexpression caused senescence-like growth arrest of cells, and (ii) suppression of CARF induces aneuploidy, DNA damage, and mitotic catastrophe, resulting in apoptosis via the ATR/CHK1 pathway.

aneuploidy


Input: The IL1B-31T > C (MAF = 34%) polymorphism was also associated with total fat (P = 0. 007) and regional fat masses, but not lean body mass.

MAF

lean body mass


Input: Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.

breast cancer

breast cancer


Input: Western blotting confirmed a significant increase in ceruloplasmin levels in placental tissue in PE compared to PC groups.

ceruloplasmin

PE

ceruloplasmin

PE


Input: Using linkage analysis in 148 Chinese hypertensive families, we identified a region of linkage with systolic blood pressure (SBP) and diastolic blood pressure (DBP) that consisted of a 10. 6-cM interval defined by markers D8S1145, D8S261, and D8S282 on chromosome 8, which maps between 31 to 41. 6 cM from the 8p-telomere contained LPL gene, with statistically significant p values for the marker D8S261 (p = 0. 0021 for SBP, and p = 0. 0395 for DBP).

LPL gene

diastolic blood pressure


Input: Sanger sequencing confirmed the presence of DHODH mutations in three additional families with Miller syndrome.

DHODH

Miller syndrome

DHODH

Miller syndrome


Input: The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs.

atopic


Input: This study evaluated the hypothesis that fibrogenic repair in nonalcoholic fatty liver disease (NAFLD) is mediated by Hedgehog (Hh) pathway activation and consequent induction of epithelial-to-mesenchymal transitions (EMT) in ductular-type progenitors.

EMT

nonalcoholic fatty liver disease


Input: The model with the best fit combined 8 covariates, including the 5 clinicopathological variables prostate specific antigen, Gleason score, pathological stage, lymph node involvement and margin status, and 3 single nucleotide polymorphisms at the KLK2, SULT1A1 and TLR4 genes.

fit


Input: Seventeen renal tumors [13 renal cell carcinomas (RCCs), two Wilms' tumors, one oncocytoma, and one metastatic ganglioneuroblastoma] and their corresponding normal kidney tissues were examined for EGFR gene structural integrity by Southern blot hybridization.

EGFR gene

oncocytoma


Input: To investigate if genes associated with cleft lip/palate were also associated with oral cancer, we genotyped 188 individuals with OSCC and 225 control individuals for markers in AXIN2, AXIN1, GSK3β, WNT3A, WNT5A, WNT8A, WNT11, WNT3, and WNT9B.

cleft lip/palate


Input: MCM were susceptible to SHIV (SF162P4cy) infection as shown by viremia and loss of CD4 + T cells.

viremia


Input: Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Furthermore, recombinant ADAMTS13 did not enhance bleeding in a hemorrhagic stroke model.

hemorrhagic stroke


Input: Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration.

MIM

dehydration


Input: We have characterised the expression of the syntrophins (alpha-, beta1-, and beta2-) and alpha-dystrobrevin by immunohistochemistry in normal human muscle and in biopsies from 162 patients with myopathies of unknown aetiology (with normal staining for dystrophin and other dystrophin-associated proteins).

myopathies


Input: Given the role of GAP-43 in the establishment and reorganization of synaptic connections, the finding of selective reduction of this protein in prefrontal cortex suggests that a dysfunctional synaptic organization in this region may be associated with depression and suicidal behaviour.

depression

depression


Input: Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding.

Rett syndrome

Rett syndrome


Input: It is a novel tumor marker for human HCC: GPC3 protein was present in sera from 40-50% of HCC patients, but was not detected in sera from patients with liver cirrhosis or chronic hepatitis, or in sera from healthy individuals.

HCC

chronic hepatitis


Input: In biological studies with human esophageal squamous cell carcinoma cell line, MTA1 plays its roles to promote cancer cell invasion, adhesion and movement.

adhesion


Input: In search of potential urinary biomarkers of obstructive nephropathy, this study examined whether a potential change in the concentration of urinary cytokines [interferon-γ (IFN-γ), interleukin-1β (IL-1β), IL-2, IL-6, IL-10 and tumour necrosis factor-α (TNF-α)] reliably reflects changes in renal parenchymal levels of the same cytokines following the release of acute and chronic unilateral ureteral obstruction, respectively.

obstructive nephropathy


Input: The lipoapoptosis susceptibility by FATP4 was coupled with the increased JNK, PUMA, caspase3, PARP-1 activation as well as Rac-1-mediated cytoskeletal reorganization, and decreased insulin sensitivity.

insulin sensitivity


Input: The lesions in acute hepatitis (AH) and chronic hepatitis (CH) are mild, but in severe hepatitis (SH), it can be very serious and cause liver function failure, therefore, we should pay more attention to TTV when studying the possible pathogens of so-called " liver hepatitis of unknown etiology ".

TTV

chronic hepatitis


Input: In a hamster model of N-methyl-N-benzylnitrosamine (MBN)-induced oral carcinogenesis, the incidence of buccal pouch (HBP) carcinomas in MBN-treated hamsters (17. 8 +/-7. 5) was significantly higher than MBN-treated hamsters given tea (10. 8 +/-3. 9) (P < 0. 05).

HBP

carcinogenesis


Input: Genomic studies repeatedly revealed several novel melanoma marker genes including those of the transcription factor NOTCH2, WNT5A, proliferation-associated genes TOPO2A and CDC2, membrane receptors FGFR and EphA3, adhesion molecules N-cadherin, beta3 integrin and syndecan-4, and the cell surface antigens CD59/protectin and MIA.

adhesion


Input: Furthermore, TK reduced gentamicin-induced renal dysfunction and fibrosis as evidenced by decreased myofibroblast and collagen accumulation in the kidney.

TK

fibrosis

TK

fibrosis


Input: Functional analysis of PIK3CA gene mutations in human colorectal cancer.

colorectal cancer

colorectal cancer


Input: These novel findings collectively suggest that ARL6IP1 may play a key role in cisplatin-induced apoptosis in CaSki cervical cancer cells by regulating the expression of apoptosis-associated proteins such as caspase-3,-9, p53, NF-kappaB, MAPK, Bcl-2, Bcl-xl, and Bax.

Bcl-xl

cervical cancer


Input: Taken together, our findings suggest that STEP (61) accumulation may contribute to the pathophysiology of SZ.

STEP (61

SZ

STEP (61

SZ


Input: It is hypothesized that the activity of epoxide hydrolase (EPHX2), which determines EET concentration through hydrolysis, may affect the progression of glomerulonephritis.

epoxide hydrolase

glomerulonephritis


Input: These studies indicate that PAR-1 and hematopoietic cell TF are required for liver inflammation and steatosis in mice fed a Western diet.

liver inflammation

liver inflammation


Input: Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Setleis syndrome

Setleis syndrome


Input: This adenovirus, designated Ad. HS4. AFP. E1A/TRAIL, expresses E1A to mediate viral replication and TRAIL to enhance HCC-killing efficacy under the control of a modified AFP promoter.

HCC

adenovirus


Input: DPP6 and FGGY genes have been recently associated with an increased susceptibility for sporadic amyotrophic lateral sclerosis.

FGGY

sporadic


Input: We examined four known polymorphisms, C282Y and H63D in the HFE gene, G258S in the TF gene and S82G in the TFR gene, in 181 sporadic PD patients and 180 controls from Southern Italy to investigate their possible role in susceptibility to PD.

HFE gene

sporadic


Input: Our results suggest that viruses may contribute to airway remodeling through increased ECM deposition, which in turn may contribute to increased ASM mass via increased cell migration.

ECM

airway remodeling


Input: Taken together, the data identify a new protein essential for notochord morphogenesis, extend our understanding of gene-nutrient interactions in early development, and suggest that human mutations in COL8A1 may cause structural birth defects.

birth defects

birth defects


Input: We detected 3 different PRRT2 heterozygous mutations: the recurrent p. Arg217Profs * 8 mutation, previously reported, was identified in 2 families with ICCA, 2 families with PKD, and one individual with sporadic PKD; one novel missense mutation (p. Ser275Phe) was detected in the remaining family with ICCA; and one novel truncating mutation (p. Arg217 *) was found in one individual with sporadic PKD.

sporadic


Input: We report here the lack of CD40L expression in four unrelated male children with the hyper-IgM syndrome.

hyper-IgM syndrome

hyper-IgM syndrome


Input: A Japanese girl (GPI Fukuoka) had an episode of prolonged neonatal jaundice and at 3 years of age was admitted due to acute hemolytic crisis occurring with upper respiratory tract infection.

GPI

prolonged neonatal jaundice


Input: The aim of this study was to investigate the role of NIPP1 in HCC development under hypoxia.

hypoxia


Input: This manuscript tested the hypothesis that adolescent binge drinking upregulates RAGE and Toll-like receptor (TLR) 4 as well as their endogenous agonist, high-mobility group box 1 (HMGB1).

RAGE

binge drinking


Input: Fut8 (-/-) mice exhibited multiple behavioral abnormalities consistent with a schizophrenia-like phenotype.

schizophrenia

schizophrenia


Input: Expression of tissue PPARgamma, tissue levels of IL-1beta and IL-8, and plasma concentration of gastrin were significantly higher in H. pylori-positive GC compared to controls, but H. pylori eradication significantly reduced these parameters.

GC

GC


Input: Prognostic value of serum C-reactive protein in kala-azar.

C-reactive protein

kala-azar

C-reactive protein

kala-azar


Input: Overall, we find that CYBC1 deficiency results in CGD characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction.

CGD

CGD


Input: Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe intellectual disability, and homogenous brain MRI features.

Galloway-Mowat syndrome

Galloway-Mowat syndrome


Input: In the present study, the relationship between diabetic nephropathy and Txnip was investigated using streptozotocin (STZ)-induced diabetic mice.

Txnip

diabetic nephropathy

Txnip

diabetic nephropathy


Input: Re-expression of TFF2 in gastric epithelial dysplasia implies that TFF2 possibly contributes to the initiation of gastric carcinoma.

epithelial dysplasia


Input: We found statistically significant differences (P < 0. 01) between the healthy volunteers and patients with severe periodontitis in the following genes; gonadotropin-releasing hormone 1 (GNRH1), phosphatidylinositol 3-kinase regulatory 1 (PIK3R1), dipeptidylpeptidase 4 (DPP4), fibrinogen-like 2 (FGL2), and calcitonin receptor (CALCR).

severe periodontitis


Input: Transcript levels of c-kit and the two SCF splicing variants were determined quantitatively by real-time RT-PCR using cDNA obtained from normal, premalignant and malignant snap frozen colon tissue specimens.

SCF

premalignant


Input: The incidence of basal cell carcinoma (BCC) is significantly reduced in individuals treated with inhibitors of angiotensin I-converting enzyme (ACE) that produces angiotensin II.

ACE

basal cell carcinoma


Input: New intellectual disability syndrome identified: WDR26 haploinsufficiency is rare but could provide explanations to some patients.

intellectual disability

intellectual disability


Input: The gene encoding the vesicular monoamine transporter 1 (VMAT1/SLC18A1) maps to chromosome 8p21, a region where several linkage peaks overlap between schizophrenia, bipolar disorder and anxiety-related personality traits.

personality traits


Input: The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.

juvenile polyposis

juvenile polyposis


Input: We previously showed that p66 (Shc) protein level is upregulated by steroid hormones in human carcinoma cells and is higher in prostate cancer (PCa) specimens than adjacent noncancerous cells.

carcinoma


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%.

glioblastoma multiforme

glioblastoma multiforme


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

retinol binding protein 1

carcinomas

retinol binding protein 1

carcinomas


Input: A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

XX gonadal dysgenesis

XX gonadal dysgenesis