Base de dados : MEDLINE
Pesquisa : D12.776.395.550.200.250.325 [Categoria DeCS]
Referências encontradas : 285 [refinar]
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[PMID]:29369566
[Au] Autor:Lopatkina ME; Kashevarova AA; Lebedev IN
[Ti] Título:[Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability].
[So] Source:Genetika;52(9):1109-12, 2016 Sep.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:Analysis of the prevalence of copy number variations of the CNTN6 gene, recently selected as a new candidate gene for intellectual disorders, was performed. Real-time PCR did not detect any change in the number of CNTN6 gene copies in a group of 200 patients with impaired intellectual development. However, taking into account our data from the previous aCGH analysis and published data, the overall frequency of microdeletions and microduplications of CNTN6 was estimated as 1: 265 (0.4%). The common phenotypic features of 40 patients with microdeletions and microduplications of CNTN6 appeared to be the autism spectrum disorders, developmental delay, intellectual disability, seizures, cognitive impairment, cardiological defects, and behavioral problems.
[Mh] Termos MeSH primário: Contactinas/genética
Dosagem de Genes
Mutação INDEL
Deficiência Intelectual/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Feminino
Seres Humanos
Deficiência Intelectual/fisiopatologia
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNTN6 protein, human); 0 (Contactins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


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[PMID]:28782576
[Au] Autor:Li J; Chen C; Bi X; Zhou C; Huang T; Ni C; Yang P; Chen S; Ye M; Duan S
[Ad] Endereço:Medical Genetics Center, School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, China; The Affiliated Hospital, Ningbo University, Ningbo, Zhejiang 315000, China.
[Ti] Título:DNA methylation of CMTM3, SSTR2, and MDFI genes in colorectal cancer.
[So] Source:Gene;630:1-7, 2017 Sep 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Colorectal cancer (CRC) is increasingly common worldwide, including in China. Therefore, there is an increasing need to detect CRC at an early stage and to discover and evaluate diagnostic and prognostic biomarkers. DNA methylation of genes in CRC is a potential epigenetic biomarker for the early detection of CRC. This study was performed to analyze the methylation frequency of six candidate genes, CMTM3, SSTR2, MDFI, NDRG4, TGFB2, and BCL2L11, in fresh-frozen CRC tissues and adjacent normal colorectal tissues, from 42 patients with CRC. DNA isolation, bisulphite modification, and pyrosequencing were performed. The sensitivity, specificity, and the area under the receiver operator characteristic (ROC) curve (AUC) were evaluated to determine whether these genes showed any associations with tumor grade, stage, or diagnostic features. Among the tested genes, three genes, CMTM3, SSTR2, and MDFI were significantly methylated in CRC tissues when compared with adjacent normal colorectal tissues. The ROC analysis showed that a multigene model, including CMTM3, SSTR2, and MDFI, had a sensitivity of 81% and a specificity of 91% with an AUC value of 0.92. The findings of this study have shown that DNA methylation of the genes, CMTM3, SSTR2, and MDFI should be studied further with a view to determining their potential role as biomarkers for CRC.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Neoplasias Colorretais/genética
Contactinas/genética
Metilação de DNA
Fatores de Regulação Miogênica/genética
Receptores de Somatostatina/genética
[Mh] Termos MeSH secundário: Proteína 11 Semelhante a Bcl-2/genética
Neoplasias Colorretais/patologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Proteínas Musculares/genética
Proteínas do Tecido Nervoso/genética
Fator de Crescimento Transformador beta2/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BCL2L11 protein, human); 0 (Bcl-2-Like Protein 11); 0 (Biomarkers, Tumor); 0 (CNTN3 protein, human); 0 (Contactins); 0 (Muscle Proteins); 0 (Myogenic Regulatory Factors); 0 (NDRG4 protein, human); 0 (Nerve Tissue Proteins); 0 (Receptors, Somatostatin); 0 (TGFB2 protein, human); 0 (Transforming Growth Factor beta2); 0 (somatostatin receptor subtype 2, human); 183511-66-2 (MDFI protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170808
[St] Status:MEDLINE


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[PMID]:28781169
[Au] Autor:Peng YR; Tran NM; Krishnaswamy A; Kostadinov D; Martersteck EM; Sanes JR
[Ad] Endereço:Center for Brain Science and Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA, USA.
[Ti] Título:Satb1 Regulates Contactin 5 to Pattern Dendrites of a Mammalian Retinal Ganglion Cell.
[So] Source:Neuron;95(4):869-883.e6, 2017 Aug 16.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The size and shape of dendritic arbors are prime determinants of neuronal connectivity and function. We asked how ON-OFF direction-selective ganglion cells (ooDSGCs) in mouse retina acquire their bistratified dendrites, in which responses to light onset and light offset are segregated to distinct strata. We found that the transcriptional regulator Satb1 is selectively expressed by ooDSGCs. In Satb1 mutant mice, ooDSGC dendrites lack ON arbors, and the cells selectively lose ON responses. Satb1 regulates expression of a homophilic adhesion molecule, Contactin 5 (Cntn5). Both Cntn5 and its co-receptor Caspr4 are expressed not only by ooDSGCs, but also by interneurons that form a scaffold on which ooDSGC ON dendrites fasciculate. Removing Cntn5 from either ooDSGCs or interneurons partially phenocopies Satb1 mutants, demonstrating that Satb1-dependent Cntn5 expression in ooDSGCs leads to branch-specific homophilic interactions with interneurons. Thus, Satb1 directs formation of a morphologically and functionally specialized compartment within a complex dendritic arbor.
[Mh] Termos MeSH primário: Moléculas de Adesão Celular Neuronais/metabolismo
Contactinas/metabolismo
Dendritos/metabolismo
Retina/citologia
Células Ganglionares da Retina/citologia
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Caderinas/metabolismo
Moléculas de Adesão Celular Neuronais/genética
Citometria de Fluxo
Regulação da Expressão Gênica no Desenvolvimento/genética
Regulação da Expressão Gênica no Desenvolvimento/fisiologia
Células HEK293
Proteínas de Homeodomínio/genética
Proteínas de Homeodomínio/metabolismo
Seres Humanos
Técnicas In Vitro
Proteínas Luminescentes/genética
Proteínas Luminescentes/metabolismo
Camundongos
Proteínas do Tecido Nervoso/metabolismo
Receptores de Dopamina D4/genética
Receptores de Dopamina D4/metabolismo
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
Transdução Genética
beta-Galactosidase/genética
beta-Galactosidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cadherins); 0 (Cell Adhesion Molecules, Neuronal); 0 (Contactins); 0 (Drd4 protein, mouse); 0 (Homeodomain Proteins); 0 (Luminescent Proteins); 0 (Nerve Tissue Proteins); 0 (Stab1 protein, mouse); 0 (Transcription Factors); 137750-34-6 (Receptors, Dopamine D4); 140115-73-7 (Hb9 protein, mouse); EC 3.2.1.23 (beta-Galactosidase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170808
[St] Status:MEDLINE


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[PMID]:28641109
[Au] Autor:Huang AY; Yu D; Davis LK; Sul JH; Tsetsos F; Ramensky V; Zelaya I; Ramos EM; Osiecki L; Chen JA; McGrath LM; Illmann C; Sandor P; Barr CL; Grados M; Singer HS; Nöthen MM; Hebebrand J; King RA; Dion Y; Rouleau G; Budman CL; Depienne C; Worbe Y; Hartmann A; Müller-Vahl KR; Stuhrmann M; Aschauer H; Stamenkovic M; Schloegelhofer M; Konstantinidis A; Lyon GJ; McMahon WM; Barta C; Tarnok Z; Nagy P; Batterson JR; Rizzo R; Cath DC; Wolanczyk T; Berlin C; Malaty IA; Okun MS; Woods DW; Rees E; Pato CN; Pato MT; Knowles JA; Posthuma D; Pauls DL; Tourette Syndrome Association International Consortium for Genetics (TSAICG); Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)
[Ad] Endereço:Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA; Bioinformatics Interdepartm
[Ti] Título:Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
[So] Source:Neuron;94(6):1101-1111.e7, 2017 Jun 21.
[Is] ISSN:1097-4199
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 × 10 ) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 × 10 ). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS.
[Mh] Termos MeSH primário: Moléculas de Adesão Celular Neuronais/genética
Contactinas/genética
Variações do Número de Cópias de DNA
Proteínas do Tecido Nervoso/genética
Síndrome de Tourette/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Estudos de Casos e Controles
Criança
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Genótipo
Seres Humanos
Masculino
Razão de Chances
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNTN6 protein, human); 0 (Cell Adhesion Molecules, Neuronal); 0 (Contactins); 0 (NRXN1 protein, human); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170623
[St] Status:MEDLINE


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[PMID]:28602954
[Au] Autor:Banerjee S; Mino RE; Fisher ES; Bhat MA
[Ad] Endereço:Department of Cellular and Integrative Physiology, Center for Biomedical Neuroscience, University of Texas Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA. Electronic address: banerjees@uthscsa.edu.
[Ti] Título:A versatile genetic tool to study midline glia function in the Drosophila CNS.
[So] Source:Dev Biol;429(1):35-43, 2017 09 01.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neuron-glial interactions are crucial for growth, guidance and ensheathment of axons across species. In the Drosophila CNS midline, neuron-glial interactions underlie ensheathment of commissural axons by midline glial (MG) cells in a manner similar to mammalian oligodendrocytes. Although there has been some advance in the study of neuron-glial interactions and ensheathment of axons in the CNS midline, key aspects of axonal ensheathment are still not fully understood. One of the limitations has been the unavailability of MG membrane markers that could highlight the glial processes wrapping the axons. Previous studies have identified two key molecular players from the neuronal and glial cell types in the CNS midline. These are the neuronal transmembrane protein Neurexin IV (Nrx IV) and the membrane-anchored MG protein Wrapper, both of which interact in trans to mediate neuron-glial interactions and ensheathment of commissural axons. In the current study, we attempt to further our understanding of MG biology and try to overcome some of the technical difficulties posed by the lack of a robust MG driver that will specifically allow expression or knockdown of genes in MG. We report the generation of BAC transgenic flies of wrapper-GAL4 and demonstrate how these flies could be used as a genetic tool to understand MG biology. We have utilized the GAL4/UAS system to drive GFP-reporter lines (membrane-bound mCD8-GFP; microtubule-associated tau-GFP) and nuclear lacZ using wrapper-GAL4 to highlight the MG cells and/or their processes that surround and perform axonal ensheathment functions in the embryonic midline. We also describe the utility of the wrapper-GAL4 driver line to down-regulate known MG genes specifically in Wrapper-positive cells. Finally, we validate the functionality of the wrapper-GAL4 driver by rescue of wrapper mutant phenotypes and lethality. Together, these studies provide us with a versatile genetic tool to investigate MG functions and will aid in future investigations where genetic screens using wrapper-GAL4 could be designed to identify novel molecular players at the Drosophila midline and unravel key aspects of MG biology.
[Mh] Termos MeSH primário: Drosophila melanogaster/citologia
Técnicas Genéticas
Neuroglia/metabolismo
[Mh] Termos MeSH secundário: Animais
Contactinas/metabolismo
Proteínas de Drosophila/metabolismo
Drosophila melanogaster/metabolismo
Mutação/genética
Proteínas do Tecido Nervoso/metabolismo
Fenótipo
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Contactins); 0 (Drosophila Proteins); 0 (GAL4 protein, Drosophila); 0 (Nerve Tissue Proteins); 0 (Transcription Factors); 0 (contactin protein, Drosophila); 0 (wrapper protein, Drosophila)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171111
[Lr] Data última revisão:
171111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE


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[PMID]:28595731
[Au] Autor:Yete S; Pradhan S; Saranath D
[Ad] Endereço:Department of Biological Sciences, Sunandan Divatia School of Science, NMIMS (deemed-to-be) University, Vile Parle, Mumbai 400056, India.
[Ti] Título:Single nucleotide polymorphisms in an Indian cohort and association of CNTN4, MMP2 and SNTB1 variants with oral cancer.
[So] Source:Cancer Genet;214-215:16-25, 2017 Aug.
[Is] ISSN:2210-7762
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Oral cancer is a high incidence cancer in India primarily due to the prevalent tobacco/areca nut chewing habits and hence a major health concern. India constitutes 26% of the global oral cancer burden. Besides the well-established risk factors, the genomic constitution of an individual plays a role in oral cancer. The aim of the current study was to analyse genomic variants represented as single nucleotide polymorphisms (SNPs), analyse their prevalence and investigate risk association of allelotypes/genotypes to oral cancers. Eleven SNPs in genes associated with biological functions were analysed in an Indian cohort (n = 1000) comprising 500 oral cancer patients and 500 long term tobacco habitués as controls, using Allelic discrimination Real-Time PCR assay with SYBR Green dye. Fisher's exact test and Odds Ratio were used for statistical analysis. Increased risk was observed for rs9849237 CC [P = 0.008; OR 1.412 (1.09-1.82)] and rs243865 CT [P = 0.004; OR 1.469 (1.13-1.90)] genotypes, whereas rs9849237 CT [P = 0.034; OR 0.755 (0.58-0.97)], rs243865 CC [P = 0.002; OR 0.669 (0.51-0.86)] and rs10090787 CC [P = 0.049; OR 0.774 (0.60-0.99)] genotypes indicated decreased risk to oral cancer. The other SNPs showed equidistribution in both groups. Our data indicated genotypes and alleles in specific SNPs rs9849237, rs243865 and rs10090787 with increased/decreased risk to oral cancer.
[Mh] Termos MeSH primário: Contactinas/genética
Proteínas Associadas à Distrofina/genética
Metaloproteinase 2 da Matriz/genética
Neoplasias Bucais/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Estudos de Coortes
Contactinas/fisiologia
Proteínas Associadas à Distrofina/fisiologia
Predisposição Genética para Doença
Genótipo
Seres Humanos
Índia
Metaloproteinase 2 da Matriz/fisiologia
Razão de Chances
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNTN4 protein, human); 0 (Contactins); 0 (Dystrophin-Associated Proteins); 0 (syntrophin); EC 3.4.24.24 (MMP2 protein, human); EC 3.4.24.24 (Matrix Metalloproteinase 2)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170815
[Lr] Data última revisão:
170815
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170610
[St] Status:MEDLINE


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[PMID]:28376881
[Au] Autor:Takeshima SN; Sasaki S; Meripet P; Sugimoto Y; Aida Y
[Ad] Endereço:Viral Infectious Diseases Unit, RIKEN, 2-1 Hirosawa, Wako, Saitama, 351-0198, Japan.
[Ti] Título:Single nucleotide polymorphisms in the bovine MHC region of Japanese Black cattle are associated with bovine leukemia virus proviral load.
[So] Source:Retrovirology;14(1):24, 2017 Apr 04.
[Is] ISSN:1742-4690
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Bovine leukemia virus (BLV) is the causative agent of enzootic bovine leukosis, a malignant B cell lymphoma that has spread worldwide and causes serious problems for the cattle industry. The BLV proviral load, which represents the BLV genome integrated into host genome, is a useful index for estimating disease progression and transmission risk. Here, we conducted a genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with BLV proviral load in Japanese Black cattle. The study examined 93 cattle with a high proviral load and 266 with a low proviral load. Three SNPs showed a significant association with proviral load. One SNP was detected in the CNTN3 gene on chromosome 22, and two (which were not in linkage disequilibrium) were detected in the bovine major histocompatibility complex region on chromosome 23. These results suggest that polymorphisms in the major histocompatibility complex region affect proviral load. This is the first report to detect SNPs associated with BLV proviral load in Japanese Black cattle using whole genome association study, and understanding host factors may provide important clues for controlling the spread of BLV in Japanese Black cattle.
[Mh] Termos MeSH primário: Leucose Enzoótica Bovina/genética
Leucose Enzoótica Bovina/virologia
Vírus da Leucemia Bovina/crescimento & desenvolvimento
Complexo Principal de Histocompatibilidade
Polimorfismo de Nucleotídeo Único
Provírus/crescimento & desenvolvimento
Carga Viral
[Mh] Termos MeSH secundário: Animais
Bovinos
Contactinas/genética
Leucose Enzoótica Bovina/imunologia
Estudo de Associação Genômica Ampla
Japão
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Contactins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170510
[Lr] Data última revisão:
170510
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1186/s12977-017-0348-3


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[PMID]:27166760
[Au] Autor:Mercati O; Huguet G; Danckaert A; André-Leroux G; Maruani A; Bellinzoni M; Rolland T; Gouder L; Mathieu A; Buratti J; Amsellem F; Benabou M; Van-Gils J; Beggiato A; Konyukh M; Bourgeois JP; Gazzellone MJ; Yuen RK; Walker S; Delépine M; Boland A; Régnault B; Francois M; Van Den Abbeele T; Mosca-Boidron AL; Faivre L; Shimoda Y; Watanabe K; Bonneau D; Rastam M; Leboyer M; Scherer SW; Gillberg C; Delorme R; Cloëz-Tayarani I; Bourgeron T
[Ad] Endereço:Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France.
[Ti] Título:CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
[So] Source:Mol Psychiatry;22(4):625-633, 2017 Apr.
[Is] ISSN:1476-5578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6 was transmitted by a mother to her two sons with ASD and one variant CNTN6 was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.
[Mh] Termos MeSH primário: Percepção Auditiva/genética
Transtorno do Espectro Autista/genética
Contactinas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Transtorno do Deficit de Atenção com Hiperatividade/genética
Transtorno do Espectro Autista/metabolismo
Criança
Contactinas/metabolismo
Variações do Número de Cópias de DNA
Feminino
Predisposição Genética para Doença
Seres Humanos
Masculino
Mutação
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNTN5 protein, human); 0 (CNTN6 protein, human); 0 (Contactins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160512
[St] Status:MEDLINE
[do] DOI:10.1038/mp.2016.61


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[PMID]:27548383
[Au] Autor:Ortiz-Fernández L; Carmona FD; Montes-Cano MA; García-Lozano JR; Conde-Jaldón M; Ortego-Centeno N; Castillo MJ; Espinosa G; Graña-Gil G; Sánchez-Bursón J; Juliá MR; Solans R; Blanco R; Barnosi-Marín AC; Gómez de la Torre R; Fanlo P; Rodríguez-Carballeira M; Rodríguez-Rodríguez L; Camps T; Castañeda S; Alegre-Sancho JJ; Martín J; González-Escribano MF
[Ad] Endereço:Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, 41013, Spain.
[Ti] Título:Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.
[So] Source:PLoS One;11(8):e0161305, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6.82E-32, OR = 3.82). A step-wise conditional logistic regression with classical alleles identified HLA-B*57 and HLA-A*03 as additional independent markers. The amino acid model that best explained the association, includes the position 97 of the HLA-B molecule and the position 66 of the HLA-A. Among the non-HLA loci, the most significant in the discovery analysis were: IL23R (rs10889664: P = 3.81E-12, OR = 2.00), the JRKL/CNTN5 region (rs2848479: P = 5.00E-08, OR = 1.68) and IL12A (rs1874886: P = 6.67E-08, OR = 1.72), which were confirmed in the validation phase (JRKL/CNTN5 rs2848479: P = 3.29E-10, OR = 1.66; IL12A rs1874886: P = 1.62E-08, OR = 1.61). Our results confirm HLA-B*51 as a primary-association marker in predisposition to BD and suggest additional independent signals within the class I region, specifically in the genes HLA-A and HLA-B. Regarding the non-HLA genes, in addition to IL-23R, previously reported in our population; IL12A, described in other populations, was found to be a BD susceptibility factor also in Spaniards; finally, a new associated locus was found in the JRKL/CNTN5 region.
[Mh] Termos MeSH primário: Síndrome de Behçet/genética
Contactinas/genética
Predisposição Genética para Doença
Antígeno HLA-B51/genética
Subunidade p35 da Interleucina-12/genética
Receptores de Interleucina/genética
[Mh] Termos MeSH secundário: Alelos
Síndrome de Behçet/imunologia
Síndrome de Behçet/patologia
Estudos de Casos e Controles
Contactinas/imunologia
Frequência do Gene
Loci Gênicos
Antígeno HLA-A3/genética
Antígeno HLA-A3/imunologia
Antígenos HLA-B/genética
Antígenos HLA-B/imunologia
Antígeno HLA-B51/imunologia
Seres Humanos
Imunoensaio
Subunidade p35 da Interleucina-12/imunologia
Modelos Logísticos
Análise em Microsséries
Modelos Moleculares
Receptores de Interleucina/imunologia
Espanha
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNTN5 protein, human); 0 (Contactins); 0 (HLA-A3 Antigen); 0 (HLA-B Antigens); 0 (HLA-B51 Antigen); 0 (HLA-B57 antigen); 0 (IL12A protein, human); 0 (IL23R protein, human); 0 (Interleukin-12 Subunit p35); 0 (Receptors, Interleukin)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170727
[Lr] Data última revisão:
170727
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160823
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0161305


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[PMID]:27539848
[Au] Autor:Nikolaienko RM; Hammel M; Dubreuil V; Zalmai R; Hall DR; Mehzabeen N; Karuppan SJ; Harroch S; Stella SL; Bouyain S
[Ad] Endereço:From the Division of Molecular Biology and Biochemistry, School of Biological Sciences, University of Missouri-Kansas City, Kansas City, Missouri 64110.
[Ti] Título:Structural Basis for Interactions Between Contactin Family Members and Protein-tyrosine Phosphatase Receptor Type G in Neural Tissues.
[So] Source:J Biol Chem;291(41):21335-21349, 2016 Oct 07.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Protein-tyrosine phosphatase receptor type G (RPTPγ/PTPRG) interacts in vitro with contactin-3-6 (CNTN3-6), a group of glycophosphatidylinositol-anchored cell adhesion molecules involved in the wiring of the nervous system. In addition to PTPRG, CNTNs associate with multiple transmembrane proteins and signal inside the cell via cis-binding partners to alleviate the absence of an intracellular region. Here, we use comprehensive biochemical and structural analyses to demonstrate that PTPRG·CNTN3-6 complexes share similar binding affinities and a conserved arrangement. Furthermore, as a first step to identifying PTPRG·CNTN complexes in vivo, we found that PTPRG and CNTN3 associate in the outer segments of mouse rod photoreceptor cells. In particular, PTPRG and CNTN3 form cis-complexes at the surface of photoreceptors yet interact in trans when expressed on the surfaces of apposing cells. Further structural analyses suggest that all CNTN ectodomains adopt a bent conformation and might lie parallel to the cell surface to accommodate these cis and trans binding modes. Taken together, these studies identify a PTPRG·CNTN complex in vivo and provide novel insights into PTPRG- and CNTN-mediated signaling.
[Mh] Termos MeSH primário: Contactinas
Complexos Multiproteicos
Proteínas do Tecido Nervoso
Tecido Nervoso/metabolismo
Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores
Transdução de Sinais/fisiologia
[Mh] Termos MeSH secundário: Animais
Contactinas/química
Contactinas/genética
Contactinas/metabolismo
Seres Humanos
Camundongos
Modelos Biológicos
Modelos Moleculares
Complexos Multiproteicos/química
Complexos Multiproteicos/genética
Complexos Multiproteicos/metabolismo
Proteínas do Tecido Nervoso/química
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/metabolismo
Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores/química
Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores/genética
Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Contactins); 0 (Multiprotein Complexes); 0 (Nerve Tissue Proteins); EC 3.1.3.48 (Ptprg protein, mouse); EC 3.1.3.48 (Receptor-Like Protein Tyrosine Phosphatases, Class 5)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171007
[Lr] Data última revisão:
171007
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160820
[St] Status:MEDLINE



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