Atenção: Todas as denúncias são sigilosas e sua identidade será preservada.
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Metadados | Descrição | Idioma |
---|---|---|
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | BMC, Medical Scientist Training Program | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Texas Children's Hospital, Houston | - |
Autor(es): dc.contributor | University of Brasilia | - |
Autor(es): dc.contributor | Robinow Syndrome Foundation, Anoka | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | BMC, Medical Scientist Training Program | - |
Autor(es): dc.contributor | BCM, Human Genome Sequencing Center | - |
Autor(es): dc.contributor | GeneDx Inc., Gaithersburg | - |
Autor(es): dc.contributor | University of Brasilia | - |
Autor(es): dc.contributor | University of Brasilia | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, UTHealth | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Oxford University Hospitals NHS Foundation Trust, Oxford Centre for Genomic Medicine, | - |
Autor(es): dc.contributor | Oxford University Hospitals NHS Foundation Trust, Cardiothoracic Surgery | - |
Autor(es): dc.contributor | NHS Lothian, Edinburgh | - |
Autor(es): dc.contributor | Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust | - |
Autor(es): dc.contributor | Oxford University Hospitals NHS Foundation Trust, Pediatric Rheumatology, Nuffield Orthopedic Centre | - |
Autor(es): dc.contributor | Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences | - |
Autor(es): dc.contributor | Oxford University Hospitals NHS Foundation Trust, Oxford Regional Genetics Laboratories | - |
Autor(es): dc.contributor | Oxford University Hospitals NHS Foundation Trust, Oxford Regional Genetics Laboratories | - |
Autor(es): dc.contributor | Great Ormond Street Hospital NHS Foundation Trust, Radiology Department | - |
Autor(es): dc.contributor | University Clinical Center Zagreb, Department of Pediatric Endocrinology and Diabetes | - |
Autor(es): dc.contributor | The University of Manchester, School of Biological Sciences, Faculty of Biology, Medicine and Health, Division of Evolution, Infection and Genomics | - |
Autor(es): dc.contributor | Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester Center for Genomic Medicine, Health Innovation Manchester | - |
Autor(es): dc.contributor | Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester Center for Genomic Medicine, Health Innovation Manchester | - |
Autor(es): dc.contributor | BCM, Human Genome Sequencing Center | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Texas Children's Hospital, Houston | - |
Autor(es): dc.contributor | Columbia University, Department of Pediatrics and Medicine | - |
Autor(es): dc.contributor | GeneDx Inc., Gaithersburg | - |
Autor(es): dc.contributor | University of Texas Health Science Center at Houston, McGovern Medical School,Department of Pediatrics | - |
Autor(es): dc.contributor | Children’s Memorial Hermann Hospital | - |
Autor(es): dc.contributor | University of Texas Health Science Center at Houston, McGovern Medical School,Department of Pediatrics | - |
Autor(es): dc.contributor | Children’s Memorial Hermann Hospital | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | GeneDx Inc., Gaithersburg | - |
Autor(es): dc.contributor | Arnold Palmer Hospital for Children, Orlando | - |
Autor(es): dc.contributor | Duke University Medical Center, Division of Medical Genetics, Durham | - |
Autor(es): dc.contributor | Duke University Medical Center, Division of Medical Genetics, Durham | - |
Autor(es): dc.contributor | Duke University Medical Center, Division of Medical Genetics, Durham | - |
Autor(es): dc.contributor | Inova Fairfax Hospital, Medical Genetics, Falls Church | - |
Autor(es): dc.contributor | Cook Children's Hospital, Fort Worth | - |
Autor(es): dc.contributor | University of North Carolina at Chapel Hill School of Medicine, Division of Pediatric Genetics and Metabolism | - |
Autor(es): dc.contributor | State University of Rio de Janeiro | - |
Autor(es): dc.contributor | University of Sao Paulo, Faculdade de Medicina, Instituto da Criança - Hospital das Clinicas HCFMUSP, Unidade de Genética | - |
Autor(es): dc.contributor | Mendelics Análise Genômica, São Paulo | - |
Autor(es): dc.contributor | University of Sao Paulo, Ribeirao Preto Medical School, Department of Genetics | - |
Autor(es): dc.contributor | São Paulo University, Instituto de Tratamento do Câncer Infantil | - |
Autor(es): dc.contributor | Hospital Israelita Albert Einstein, Medical School | - |
Autor(es): dc.contributor | Queen Mary University of London, Genomics England and William Harvey Research Institute | - |
Autor(es): dc.contributor | BCM, Human Genome Sequencing Center | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | BCM, Human Genome Sequencing Center | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Baylor Genetics, Houston | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Texas Children's Hospital, Houston | - |
Autor(es): dc.contributor | BCM, Human Genome Sequencing Center | - |
Autor(es): dc.contributor | BCM, Department of Pediatrics | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Texas Children's Hospital, Houston | - |
Autor(es): dc.contributor | BCM, Department of Molecular and Human Genetics | - |
Autor(es): dc.contributor | Pacific Northwest Research Institute | - |
Autor(es): dc.creator | Chaofan Zhang | - |
Autor(es): dc.creator | Jolly, Angad | - |
Autor(es): dc.creator | Shayota, Brian J. | - |
Autor(es): dc.creator | Araújo, Juliana Forte Mazzeu de | - |
Autor(es): dc.creator | Haowei Du | - |
Autor(es): dc.creator | Dawood, Moez | - |
Autor(es): dc.creator | Soper, Patricia Celestino | - |
Autor(es): dc.creator | Lima, Ariadne Ramalho de | - |
Autor(es): dc.creator | Ferreira, Bárbara Merfort | - |
Autor(es): dc.creator | Coban-Akdemir, Zeynep | - |
Autor(es): dc.creator | White, Janson | - |
Autor(es): dc.creator | Shears, Deborah | - |
Autor(es): dc.creator | Thomson, Fraser Robert | - |
Autor(es): dc.creator | Douglas, Sarah Louise | - |
Autor(es): dc.creator | Wainwright, Andrew | - |
Autor(es): dc.creator | Bailey, Kathryn | - |
Autor(es): dc.creator | Wordsworth, Paul | - |
Autor(es): dc.creator | Oldridge, Mike | - |
Autor(es): dc.creator | Lester, Tracy | - |
Autor(es): dc.creator | Calder, Alistair D. | - |
Autor(es): dc.creator | Dumic, Katja | - |
Autor(es): dc.creator | Banka, Siddharth | - |
Autor(es): dc.creator | Donnai, Dian | - |
Autor(es): dc.creator | Jhangiani, Shalini N. | - |
Autor(es): dc.creator | Potocki, Lorraine | - |
Autor(es): dc.creator | Chung, Wendy K. | - |
Autor(es): dc.creator | Mora, Sara | - |
Autor(es): dc.creator | Northrup, Hope | - |
Autor(es): dc.creator | Ashfaq, Myla | - |
Autor(es): dc.creator | Rosenfeld, Jill A. | - |
Autor(es): dc.creator | Mason, Kati | - |
Autor(es): dc.creator | Pollack, Lynda C. | - |
Autor(es): dc.creator | McConkie-Rosell, Allyn | - |
Autor(es): dc.creator | Wei Kelly | - |
Autor(es): dc.creator | McDonald, Marie | - |
Autor(es): dc.creator | Hauser, Natalie S. | - |
Autor(es): dc.creator | Leahy, Peter | - |
Autor(es): dc.creator | Powell, Cynthia M. | - |
Autor(es): dc.creator | Boy, Raquel | - |
Autor(es): dc.creator | Honjo, Rachel Sayuri | - |
Autor(es): dc.creator | Kok, Fernando | - |
Autor(es): dc.creator | Martelli, Lucia R. | - |
Autor(es): dc.creator | Odone Filho, Vicente | - |
Autor(es): dc.creator | Genomics England Research Consortium | - |
Autor(es): dc.creator | Muzny, Donna M. | - |
Autor(es): dc.creator | Gibbs, Richard A. | - |
Autor(es): dc.creator | Posey, Jennifer E. | - |
Autor(es): dc.creator | Pengfei Liu | - |
Autor(es): dc.creator | Lupski, James R. | - |
Autor(es): dc.creator | Sutton, V. Reid | - |
Autor(es): dc.creator | Carvalho, Claudia M. B. | - |
Data de aceite: dc.date.accessioned | 2024-10-23T16:19:59Z | - |
Data de disponibilização: dc.date.available | 2024-10-23T16:19:59Z | - |
Data de envio: dc.date.issued | 2024-10-08 | - |
Data de envio: dc.date.issued | 2024-10-08 | - |
Data de envio: dc.date.issued | 2021 | - |
Fonte completa do material: dc.identifier | http://repositorio.unb.br/handle/10482/50523 | - |
Fonte: dc.identifier.uri | http://educapes.capes.gov.br/handle/capes/905711 | - |
Descrição: dc.description | Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families. Pathogenic or likely pathogenic var iants in genes associated with RS or RS phenocopies were identified in all 22 individuals, including the first variant to be reported in DVL2. We retrospectively collected medical records of 16 individuals from this cohort and extracted clinical descriptions from 52 pre viously published cases. We performed Human Phenotype Ontology (HPO) based quantitative phenotypic analyses to dissect allele-spe cific phenotypic differences. Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of pro bands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs. Through human phenotype analyses of this RS cohort and OMIM clinical synopses of Mendelian disease, this study begins to tease apart specific biologic roles for non-canonical WNT-pathway proteins. | - |
Descrição: dc.description | Faculdade de Medicina (FM) | - |
Formato: dc.format | application/pdf | - |
Idioma: dc.language | en | - |
Publicador: dc.publisher | Cell Press | - |
Direitos: dc.rights | Acesso Aberto | - |
Direitos: dc.rights | 2021 The Author(s). This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). | - |
Palavras-chave: dc.subject | Robinow, Síndrome de | - |
Palavras-chave: dc.subject | Displasia esquelética | - |
Palavras-chave: dc.subject | Mutação genética | - |
Título: dc.title | Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability | - |
Tipo de arquivo: dc.type | livro digital | - |
Aparece nas coleções: | Repositório Institucional – UNB |
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