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Pesquisa : D12.776.543.750.705.852.760.347 [Categoria DeCS]
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[PMID]:26603699
[Au] Autor:Peng Q; Li J; Tan J; Yang Y; Zhang M; Wu S; Liu Y; Zhang J; Qin P; Guan Y; Jiao Y; Zhang Z; Sabeti PC; Tang K; Xu S; Jin L; Wang S
[Ad] Endereço:Chinese Academy of Sciences Key Laboratory of Computational Biology, Chinese Academy of Sciences-Max Planck Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, 200031, Shanghai, China.
[Ti] Título:EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.
[So] Source:Hum Genet;135(1):99-108, 2016 Jan.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:An adaptive variant of human Ectodysplasin receptor, EDARV370A, had undergone strong positive selection in East Asia. In mice and humans, EDARV370A was found to affect ectodermal-derived characteristics, including hair thickness, hair shape, active sweat gland density and teeth formation. Facial characteristics are also largely ectodermal derived. In this study, taking advantage of an admixed population of East Asian and European ancestry-the Uyghur, we aim to test whether EDARV370A is affecting facial characteristics and to investigate its pleiotropic nature and genetic model. In a sample of 1027 Uyghurs, we discover that EDARV370A is significantly associated with several facial characteristics, in particular shape of earlobe (P = 3.64 × 10 (-6) ) and type of chin (P = 9.23 × 10 (-5) ), with successful replication in other East Asian populations. Additionally, in this Uyghur population, we replicate previous association findings of incisors shoveling (P = 1.02 × 10 (-7) ), double incisors shoveling (P = 1.86 × 10 (-12) ) and hair straightness (P = 3.99 × 10 (-16) ), providing strong evidence supporting an additive model for the EDARV370A associations. Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARV370A mainly plays roles in early embryo development. This study extends our knowledge about the pleiotropic nature of EDARV370A and provides potential clues to its adaptation fitness in human evolution.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Grupos Étnicos/genética
Grupo com Ancestrais do Continente Europeu/genética
Facies
Receptores da Ectodisplasina/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
China
Feminino
Seres Humanos
Masculino
Fenótipo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Receptors, Ectodysplasin); 0 (ectodysplasin receptor EDARV370A, human)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151126
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-015-1618-6


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[PMID]:26354934
[Au] Autor:Cheng J; Sedlazek F; Altmüller J; Nolte AW
[Ad] Endereço:Department for Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, August-Thienemann Strasse 2, 24306 Plön, Germany Ministry of Education Key Laboratory of Marine Genetics and Breeding, College of Marine Life Sciences, Ocean University of China, Qingdao 266003, China.
[Ti] Título:Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus).
[So] Source:Proc Biol Sci;282(1815), 2015 Sep 22.
[Is] ISSN:1471-2954
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Despite their deeply conserved function among vertebrates, ectodysplasin (Eda) signalling genes are involved in microevolutionary change in humans and sticklebacks. If such a dual role is common, Eda signalling genes constitute hotspots for morphological evolution. Variation in sculpin (Cottus) skin prickling and body shape resembles patterns caused by variation in Eda signalling in sticklebacks. We mapped Eda signalling genes and performed quantitative trait locus mapping in crosses between Cottus rhenanus and Cottus perifretum. A genomic region containing the Eda receptor (Edar) was strongly associated with prickling and contributed to shape. The expression of Edar in developing prickles and skeletal elements in Cottus was confirmed by in situ hybridization. Coding sequence changes between Edar alleles in C. rhenanus and C. perifretum exceeded sequence differentiation in other vertebrates. However, it is likely that additional genetic elements besides coding changes affect the phenotypic variation. Although the phenotype in a natural hybrid lineage between C. rhenanus and C. perifretum resembles C. perifretum, the respective coding Edar alleles are not fully fixed (88.6%). Hence, our results support an involvement of Eda signalling in microevolutionary changes, but imply that the Edar gene is affected by multiple evolutionary processes that vary among freshwater sculpins.
[Mh] Termos MeSH primário: Evolução Biológica
Padronização Corporal/genética
Ectodisplasinas/genética
Hibridização Genética
Perciformes/genética
Receptores da Ectodisplasina/genética
Transdução de Sinais
[Mh] Termos MeSH secundário: Animais
Epiderme/anatomia & histologia
Genética Populacional
Perciformes/classificação
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Nome de substância:
0 (Ectodysplasins); 0 (Receptors, Ectodysplasin)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150911
[St] Status:MEDLINE


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[PMID]:23652796
[Au] Autor:Tokonzaba E; Chen J; Cheng X; Den Z; Ganeshan R; Muller EJ; Koch PJ
[Ad] Endereço:Department of Dermatology, University of Colorado School of Medicine, Aurora, Colorado, USA.
[Ti] Título:Plakoglobin as a regulator of desmocollin gene expression.
[So] Source:J Invest Dermatol;133(12):2732-2740, 2013 Dec.
[Is] ISSN:1523-1747
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Desmosomes are cell adhesion junctions required for the normal development and maintenance of mammalian tissues and organs such as the skin, skin appendages, and the heart. The goal of this study was to investigate how desmocollins (DSCs), transmembrane components of desmosomes, are regulated at the transcriptional level. We hypothesized that differential expression of the Dsc2 and Dsc3 genes is a prerequisite for normal development of skin appendages. We demonstrate that plakoglobin (Pg) in conjunction with lymphoid enhancer-binding factor 1 (Lef-1) differentially regulates the proximal promoters of these two genes. Specifically, we found that Lef-1 acts as a switch activating Dsc2 and repressing Dsc3 in the presence of Pg. Interestingly, we also determined that NF-κB pathway components, the downstream effectors of the ectodysplasin-A (EDA)/ ectodysplasin-A receptor (EDAR)/NF-κB signaling cascade, can activate Dsc2 expression. We hypothesize that Lef-1 and EDA/EDAR/NF-κB signaling contribute to a shift in Dsc isoform expression from Dsc3 to Dsc2 in placode keratinocytes. It is tempting to speculate that this shift is required for the invasive growth of placode keratinocytes into the dermis, a crucial step in skin appendage formation.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica
Glicoproteínas de Membrana/metabolismo
gama Catenina/fisiologia
[Mh] Termos MeSH secundário: Animais
Sítios de Ligação
Adesão Celular
Cães
Ectodisplasinas/metabolismo
Queratinócitos/citologia
Fator 1 de Ligação ao Facilitador Linfoide/metabolismo
Células Madin Darby de Rim Canino
Camundongos
Camundongos Transgênicos
NF-kappa B/metabolismo
Regiões Promotoras Genéticas
Receptores da Ectodisplasina/metabolismo
Pele/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Dsc2 protein, mouse); 0 (Ectodysplasins); 0 (Lef1 protein, mouse); 0 (Lymphoid Enhancer-Binding Factor 1); 0 (Membrane Glycoproteins); 0 (NF-kappa B); 0 (Receptors, Ectodysplasin); 0 (gamma Catenin); 161026-82-0 (Dsc3 protein, mouse)
[Em] Mês de entrada:1401
[Cu] Atualização por classe:170903
[Lr] Data última revisão:
170903
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130509
[St] Status:MEDLINE


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[PMID]:23603338
[Au] Autor:Nikopensius T; Annilo T; Jagomägi T; Gilissen C; Kals M; Krjutskov K; Mägi R; Eelmets M; Gerst-Talas U; Remm M; Saag M; Hoischen A; Metspalu A
[Ad] Endereço:Institute of Molecular and Cell Biology, University of Tartu, Estonia. tiitn@ebc.ee
[Ti] Título:Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).
[So] Source:J Dent Res;92(6):507-11, 2013 Jun.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the ectodysplasin-A (EDA) gene have been generally associated with X-linked hypohidrotic ectodermal dysplasia (XLHED). Recently, missense mutations in EDA have been reported to cause familial non-syndromic tooth agenesis. In this study, we report a novel EDA mutation in an Estonian family segregating non-syndromic tooth agenesis with variable expressivity. Affected individuals had no associated defects in other ectodermal organs. Using whole-exome sequencing, we identified a heterozygous nonsense mutation c.874G>T (p.Glu292X) in the TNF homology domain of EDA in all affected female patients. This protein-altering variant arose de novo, and the potentially causative allele was transmitted to affected offspring from the affected mother. We suggest that the dental phenotype variability described in heterozygous female carriers of EDA mutation may occur because of the differential pattern of X-chromosome inactivation, which retains reduced levels of EDA-receptor signaling in tissues involved in tooth morphogenesis. This results in selective tooth agenesis rather than XLHED phenotype. The present study broadens the mutation spectrum for this locus and demonstrates that EDA mutations may result in non-syndromic tooth agenesis in heterozygous females.
[Mh] Termos MeSH primário: Anodontia/genética
Códon sem Sentido/genética
Ectodisplasinas/genética
[Mh] Termos MeSH secundário: Alelos
Mapeamento Cromossômico
Sequência Conservada/genética
Exoma/genética
Feminino
Expressão Gênica/genética
Variação Genética/genética
Glutamina/genética
Guanina
Heterozigoto
Seres Humanos
Mutação INDEL/genética
Masculino
Odontogênese/genética
Fenótipo
Polimorfismo de Nucleotídeo Único/genética
Receptores da Ectodisplasina/genética
Análise de Sequência
Análise de Sequência de Proteína
Transdução de Sinais/genética
Homologia Estrutural de Proteína
Timina
Fatores de Necrose Tumoral/genética
Inativação do Cromossomo X/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (EDA protein, human); 0 (Ectodysplasins); 0 (Receptors, Ectodysplasin); 0 (Tumor Necrosis Factors); 0RH81L854J (Glutamine); 5Z93L87A1R (Guanine); QR26YLT7LT (Thymine)
[Em] Mês de entrada:1308
[Cu] Atualização por classe:131121
[Lr] Data última revisão:
131121
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:130423
[St] Status:MEDLINE
[do] DOI:10.1177/0022034513487210


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[PMID]:22032522
[Au] Autor:Bashyam MD; Chaudhary AK; Reddy EC; Reddy V; Acharya V; Nagarajaram HA; Devi AR; Bashyam L; Dalal AB; Gupta N; Kabra M; Agarwal M; Phadke SR; Tainwala R; Kumar R; Hariharan SV
[Ad] Endereço:Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500001, India. bashyam@cdfd.org.in
[Ti] Título:A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
[So] Source:Br J Dermatol;166(4):819-29, 2012 Apr.
[Is] ISSN:1365-2133
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare Mendelian disorder affecting ectodermal tissues. The disease is primarily caused by inactivation of any one of three genes, namely ectodysplasin A1 (EDA-A1), which encodes a ligand belonging to the tumour necrosis factor (TNF) superfamily; ectodysplasin A receptor (EDAR), encoding the EDA-A1 receptor and ectodysplasin A receptor-associated death domain (EDARADD), encoding an adaptor protein. X-linked recessive (EDA-A1), the predominant form of HED, as well as autosomal recessive and dominant (EDAR and EDARADD) inheritance patterns have been identified in affected families. OBJECTIVES: To determine the common genes causing HED in India. METHODS: We performed mutation analysis on 26 HED families from India (including 30 patients). In addition, we carried out sequence and structural analysis of missense/nonsense and insertion/deletion mutations. RESULTS: Among the 26 families analysed, disease-causing EDAR mutations were identified in 12 (46%) while EDA-A1 mutations were detected in 11 (42%). Four novel mutations in EDAR and five in EDA-A1 were identified. More importantly, a possible founder EDAR mutation, namely c.1144G>A, was identified in five independent families, thus accounting for about one-fifth of affected families in whom mutation was detected. A majority of EDA-A1 mutations localized to the TNF-like domain while the location of EDAR mutations was more widespread. CONCLUSIONS: This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED.
[Mh] Termos MeSH primário: Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva/genética
Mutação/genética
Receptores da Ectodisplasina/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Análise Mutacional de DNA
Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva/epidemiologia
Éxons
Feminino
Efeito Fundador
Heterozigoto
Homozigoto
Seres Humanos
Índia/epidemiologia
Lactente
Recém-Nascido
Masculino
Meia-Idade
Linhagem
Polimorfismo de Nucleotídeo Único/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Receptors, Ectodysplasin)
[Em] Mês de entrada:1209
[Cu] Atualização por classe:120328
[Lr] Data última revisão:
120328
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:111029
[St] Status:MEDLINE
[do] DOI:10.1111/j.1365-2133.2011.10707.x


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[PMID]:21933554
[Au] Autor:Cai S; Pan Y; Han B; Sun TZ; Sheng ZY; Fu XB
[Ad] Endereço:Department of Histology and Embryology, School of Medicine, Shenzhen University, Shenzhen, Guangdong 518060, China. cai_sa@sina.com.cn
[Ti] Título:Transplantation of human bone marrow-derived mesenchymal stem cells transfected with ectodysplasin for regeneration of sweat glands.
[So] Source:Chin Med J (Engl);124(15):2260-8, 2011 Aug.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with severe full-thickness burn injury suffer from their inability to maintain body temperature through perspiration because the complete destructed sweat glands can not be regenerated. Bone marrow-derived mesenchymal stem cells (BM-MSCs) represent an ideal stem-cell source for cell therapy because of their easy purification and multipotency. In this study, we attempted to induce human BM-MSCs to differentiate into sweat gland cells for sweat gland regeneration through ectodysplasin (EDA) gene transfection. METHODS: The dynamic expression of EDA and EDA receptor (EDAR) were firstly observed in the sweat gland formation during embryological development. After transfection with EDA expression vector, human BM-MSCs were transplanted into the injured areas of burn animal models. The regeneration of sweat glands was identified by perspiration test and immunohistochemical analysis. RESULTS: Endogenous expression of EDA and EDAR correlated with sweat gland development in human fetal skin. After EDA transfection, BM-MSC acquired a sweat-gland-cell phenotype, evidenced by their expression of sweat gland markers by flow cytometry analysis. Immunohistochemical staining revealed a markedly contribution of EDA-transfected BM-MSCs to the regeneration of sweat glands in the scalded paws. Positive rate for perspiration test for the paws treated with EDA-transfected BM-MSCs was significantly higher than those treated with BM-MSCs or EDA expression vector (P < 0.05). CONCLUSIONS: Our results confirmed the important role of EDA in the development of sweat gland. BM-MSCs transfected with EDA significantly improved the sweat-gland regeneration. This study suggests the potential application of EDA-modified MSCs for the repair and regeneration of injured skin and its appendages.
[Mh] Termos MeSH primário: Células da Medula Óssea/citologia
Ectodisplasinas/metabolismo
Transplante de Células-Tronco Mesenquimais/métodos
Células Mesenquimais Estromais/citologia
Células Mesenquimais Estromais/metabolismo
Glândulas Sudoríparas/citologia
Glândulas Sudoríparas/metabolismo
[Mh] Termos MeSH secundário: Adulto
Animais
Western Blotting
Proliferação Celular
Células Cultivadas
Ectodisplasinas/genética
Feminino
Citometria de Fluxo
Seres Humanos
Imuno-Histoquímica
Masculino
Camundongos
Camundongos Endogâmicos BALB C
Camundongos Nus
Gravidez
Receptores da Ectodisplasina
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Transfecção
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ectodysplasins); 0 (Receptors, Ectodysplasin)
[Em] Mês de entrada:1205
[Cu] Atualização por classe:121115
[Lr] Data última revisão:
121115
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110922
[St] Status:MEDLINE


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[PMID]:21730053
[Au] Autor:Kowalczyk C; Dunkel N; Willen L; Casal ML; Mauldin EA; Gaide O; Tardivel A; Badic G; Etter AL; Favre M; Jefferson DM; Headon DJ; Demotz S; Schneider P
[Ad] Endereço:Department of Biochemistry, University of Lausanne, CH-1066 Epalinges, Switzerland.
[Ti] Título:Molecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodies.
[So] Source:J Biol Chem;286(35):30769-79, 2011 Sep 02.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The TNF family ligand ectodysplasin A (EDA) and its receptor EDAR are required for proper development of skin appendages such as hair, teeth, and eccrine sweat glands. Loss of function mutations in the Eda gene cause X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition that can be ameliorated in mice and dogs by timely administration of recombinant EDA. In this study, several agonist anti-EDAR monoclonal antibodies were generated that cross-react with the extracellular domains of human, dog, rat, mouse, and chicken EDAR. Their half-life in adult mice was about 11 days. They induced tail hair and sweat gland formation when administered to newborn EDA-deficient Tabby mice, with an EC(50) of 0.1 to 0.7 mg/kg. Divalency was necessary and sufficient for this therapeutic activity. Only some antibodies were also agonists in an in vitro surrogate activity assay based on the activation of the apoptotic Fas pathway. Activity in this assay correlated with small dissociation constants. When administered in utero in mice or at birth in dogs, agonist antibodies reverted several ectodermal dysplasia features, including tooth morphology. These antibodies are therefore predicted to efficiently trigger EDAR signaling in many vertebrate species and will be particularly suited for long term treatments.
[Mh] Termos MeSH primário: Anticorpos Monoclonais/química
Receptores da Ectodisplasina/química
[Mh] Termos MeSH secundário: Animais
Separação Celular
Galinhas
Cães
Ensaio de Imunoadsorção Enzimática/métodos
Mapeamento de Epitopos/métodos
Citometria de Fluxo
Seres Humanos
Ligantes
Camundongos
Dados de Sequência Molecular
Mutação
Fenótipo
Plasmídeos/metabolismo
Ratos
Receptores da Ectodisplasina/imunologia
Ressonância de Plasmônio de Superfície
Dente/embriologia
Fator de Necrose Tumoral alfa/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 (Antibodies, Monoclonal); 0 (Ligands); 0 (Receptors, Ectodysplasin); 0 (Tumor Necrosis Factor-alpha)
[Em] Mês de entrada:1110
[Cu] Atualização por classe:161202
[Lr] Data última revisão:
161202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110707
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M111.267997


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[PMID]:21712187
[Au] Autor:Baye TM
[Ad] Endereço:Cincinnati Children's Hospital Medical Center, Division of Asthma Research, Department of Pediatrics, University of Cincinnati, OH 45229, USA. tesfaye.mersha@cchmc.org
[Ti] Título:Inter-chromosomal variation in the pattern of human population genetic structure.
[So] Source:Hum Genomics;5(4):220-40, 2011 May.
[Is] ISSN:1479-7364
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Emerging technologies now make it possible to genotype hundreds of thousands of genetic variations in individuals, across the genome. The study of loci at finer scales will facilitate the understanding of genetic variation at genomic and geographic levels. We examined global and chromosomal variations across HapMap populations using 3.7 million single nucleotide polymorphisms to search for the most stratified genomic regions of human populations and linked these regions to ontological annotation and functional network analysis. To achieve this, we used five complementary statistical and genetic network procedures: principal component (PC), cluster, discriminant, fixation index (FST) and network/pathway analyses. At the global level, the first two PC scores were sufficient to account for major population structure; however, chromosomal level analysis detected subtle forms of population structure within continental populations, and as many as 31 PCs were required to classify individuals into homogeneous groups. Using recommended population ancestry differentiation measures, a total of 126 regions of the genome were catalogued. Gene ontology and networks analyses revealed that these regions included the genes encoding oculocutaneous albinism II (OCA2), hect domain and RLD 2 (HERC2), ectodysplasin A receptor (EDAR) and solute carrier family 45, member 2 (SLC45A2). These genes are associated with melanin production, which is involved in the development of skin and hair colour, skin cancer and eye pigmentation. We also identified the genes encoding interferon-γ (IFNG) and death-associated protein kinase 1 (DAPK1), which are associated with cell death, inflammatory and immunological diseases. An in-depth understanding of these genomic regions may help to explain variations in adaptation to different environments. Our approach offers a comprehensive strategy for analysing chromosome-based population structure and differentiation, and demonstrates the application of complementary statistical and functional network analysis in human genetic variation studies.
[Mh] Termos MeSH primário: Cromossomos Humanos/genética
Variação Genética
Genoma Humano/genética
[Mh] Termos MeSH secundário: Antígenos de Neoplasias/genética
Proteínas Reguladoras de Apoptose/genética
Proteínas Quinases Dependentes de Cálcio-Calmodulina/genética
Análise por Conglomerados
Proteínas Quinases Associadas com Morte Celular
Análise Discriminante
Redes Reguladoras de Genes
Fatores de Troca do Nucleotídeo Guanina/genética
Seres Humanos
Interferon gama/genética
Melaninas/genética
Melaninas/metabolismo
Proteínas de Membrana Transportadoras/genética
Redes e Vias Metabólicas/genética
Polimorfismo de Nucleotídeo Único
População/genética
Análise de Componente Principal
Receptores da Ectodisplasina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Antigens, Neoplasm); 0 (Apoptosis Regulatory Proteins); 0 (Guanine Nucleotide Exchange Factors); 0 (HERC2 protein, human); 0 (Melanins); 0 (Membrane Transport Proteins); 0 (OCA2 protein, human); 0 (Receptors, Ectodysplasin); 0 (SLC45A2 protein, human); 82115-62-6 (Interferon-gamma); EC 2.7.11.1 (DAPK1 protein, human); EC 2.7.11.1 (Death-Associated Protein Kinases); EC 2.7.11.17 (Calcium-Calmodulin-Dependent Protein Kinases)
[Em] Mês de entrada:1110
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110630
[St] Status:MEDLINE


  9 / 45 MEDLINE  
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[PMID]:22572181
[Au] Autor:Atukorala AD; Inohaya K; Baba O; Tabata MJ; Ratnayake RA; Abduweli D; Kasugai S; Mitani H; Takano Y
[Ad] Endereço:Section of Biostructural Science, Graduate School of Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, Japan.
[Ti] Título:Scale and tooth phenotypes in medaka with a mutated ectodysplasin-A receptor: implications for the evolutionary origin of oral and pharyngeal teeth.
[So] Source:Arch Histol Cytol;73(3):139-48, 2010.
[Is] ISSN:1349-1717
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Ectodermal contribution to the induction of pharyngeal teeth that form in the endodermal territory of the oropharyngeal cavity in some teleost fishes has been a matter of considerable debate. To determine the role of ectodermal cell signaling in scale and tooth formation and thereby to gain insights in evolutionary origin of teeth, we analyzed scales and teeth in rs-3 medaka mutants characterized by reduced scale numbers due to aberrant splicing of the ectodysplasin-A receptor (edar). Current data show that, in addition to a loss of scales (83% reduction), a drastic loss of teeth occurred in both oral (43.5% reduction) and pharyngeal (73.5% reduction) dentitions in rs-3. The remaining scales of rs-3 were irregular in shape and nearly 3 times larger in size relative to those of the wild-type. In contrast, there was no abnormality in size and shape in the remaining teeth of rs-3. In wild-type medaka embryos, there was a direct contact between the surface ectoderm and rostral endoderm in pharyngeal regions before the onset of pharyngeal tooth formation. However, there was no sign of ectodermal cell migration in the pharyngeal endoderm and hence no direct evidence of any ectodermal contribution to pharyngeal odontogenesis. These data suggest differential roles for Eda-Edar signaling in the induction and growth of scales and teeth and support the intrinsic odontogenic competence of the rostral endoderm in medaka.
[Mh] Termos MeSH primário: Estruturas Animais/anatomia & histologia
Evolução Biológica
Oryzias/anatomia & histologia
Oryzias/genética
Faringe/anatomia & histologia
Receptores da Ectodisplasina/genética
Dente/anatomia & histologia
[Mh] Termos MeSH secundário: Animais
Ectoderma/anatomia & histologia
Ectoderma/ultraestrutura
Embrião não Mamífero/ultraestrutura
Endoderma/anatomia & histologia
Endoderma/ultraestrutura
Feminino
Masculino
Mutação/genética
Oryzias/embriologia
Faringe/diagnóstico por imagem
Fenótipo
Tomografia Computadorizada por Raios X
Dente/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Receptors, Ectodysplasin)
[Em] Mês de entrada:1303
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120511
[St] Status:MEDLINE


  10 / 45 MEDLINE  
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[PMID]:19657145
[Au] Autor:Swee LK; Ingold-Salamin K; Tardivel A; Willen L; Gaide O; Favre M; Demotz S; Mikkola M; Schneider P
[Ad] Endereço:Department of Biochemistry, University of Lausanne, CH-1066 Epalinges, Switzerland.
[Ti] Título:Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains.
[So] Source:J Biol Chem;284(40):27567-76, 2009 Oct 02.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the TNF family ligand EDA1 cause X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by defective development of skin appendages. The EDA1 protein displays a proteolytic processing site responsible for its conversion to a soluble form, a collagen domain, and a trimeric TNF homology domain (THD) that binds the receptor EDAR. In-frame deletions in the collagen domain reduced the thermal stability of EDA1. Removal of the collagen domain decreased its activity about 100-fold, as measured with natural and engineered EDA1-responsive cell lines. The collagen domain could be functionally replaced by multimerization domains or by cross-linking antibodies, suggesting that it functions as an oligomerization unit. Surprisingly, mature soluble EDA1 containing the collagen domain was poorly active when administered in newborn, EDA-deficient (Tabby) mice. This was due to a short stretch of basic amino acids located at the N terminus of the collagen domain that confers EDA1 with proteoglycan binding ability. In contrast to wild-type EDA1, EDA1 with mutations in this basic sequence was a potent inducer of tail hair development in vivo. Thus, the collagen domain activates EDA1 by multimerization, whereas the proteoglycan-binding domain may restrict the distribution of endogeneous EDA1 in vivo.
[Mh] Termos MeSH primário: Colágeno/metabolismo
Ectodisplasinas/química
Ectodisplasinas/metabolismo
Proteoglicanas de Heparan Sulfato/metabolismo
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Anticorpos/farmacologia
Morte Celular
Linhagem Celular
Reagentes para Ligações Cruzadas/farmacologia
Ectodisplasinas/deficiência
Desenvolvimento Embrionário
Regulação da Expressão Gênica
Engenharia Genética
Cabelo/crescimento & desenvolvimento
Seres Humanos
Queratinócitos/citologia
Queratinócitos/metabolismo
Camundongos
NF-kappa B/metabolismo
Multimerização Proteica
Estrutura Quaternária de Proteína
Estrutura Terciária de Proteína
Receptores da Ectodisplasina/metabolismo
Cauda
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Antibodies); 0 (Cross-Linking Reagents); 0 (Ectodysplasins); 0 (Heparan Sulfate Proteoglycans); 0 (NF-kappa B); 0 (Receptors, Ectodysplasin); 9007-34-5 (Collagen)
[Em] Mês de entrada:0910
[Cu] Atualização por classe:141207
[Lr] Data última revisão:
141207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:090807
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M109.042259



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