Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

Guo, Yiran; Kartawinata, Melissa; Li, Jiankang; Pickett, Hilda A; Teo, Juliana; Kilo, Tatjana; Barbaro, Pasquale M; Keating, Brendan; Chen, Yulan; Tian, Lifeng; Al-Odaib, Ahmad; Reddel, Roger R; Christodoulou, John; Xu, Xun; Hakonarson, Hakon; Bryan, Tracy M

Guo, Yiran; Kartawinata, Melissa; Li, Jiankang; Pickett, Hilda A; Teo, Juliana; Kilo, Tatjana; Barbaro, Pasquale M; Keating, Brendan; Chen, Yulan; Tian, Lifeng; Al-Odaib, Ahmad; Reddel, Roger R; Christodoulou, John; Xu, Xun; Hakonarson, Hakon; Bryan, Tracy M.

Afiliação

Guo Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA;
Kartawinata M; Children's Medical Research Institute, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia;
Li J; Beijing Genomics Institute-Shenzhen, Shenzhen, China;
Pickett HA; Children's Medical Research Institute, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia;
Teo J; Haematology Department, Children's Hospital Westmead, Westmead, NSW, Australia;
Kilo T; Haematology Department, Children's Hospital Westmead, Westmead, NSW, Australia;
Barbaro PM; Children's Medical Research Institute, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia; Haematology Department, Children's Hospital Westmead, Westmead, NSW, Australia;
Keating B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;
Chen Y; Beijing Genomics Institute-Shenzhen, Shenzhen, China;
Tian L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA;
Al-Odaib A; University of Sydney, Sydney, NSW, Australia; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; and Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia.
Reddel RR; Children's Medical Research Institute, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia;
Christodoulou J; University of Sydney, Sydney, NSW, Australia; Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia.
Xu X; Beijing Genomics Institute-Shenzhen, Shenzhen, China;
Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;
Bryan TM; Children's Medical Research Institute, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia;

Blood ; 124(18): 2767-74, 2014 Oct 30.

Article em En | MEDLINE | ID: mdl-25205116

Assuntos

Doenças da Medula Óssea/genética; Medula Óssea/patologia; Mutação em Linhagem Germinativa/genética; Padrões de Herança/genética; Serina Proteases/genética; Telomerase/genética; Telômero/metabolismo; Adulto; Alelos; Anemia/genética; Criança; Exoma/genética; Feminino; Genoma Humano/genética; Humanos; Masculino; Pessoa de Meia-Idade; Dados de Sequência Molecular; Proteínas Mutantes/metabolismo; Neoplasias/genética; Linhagem; Fenótipo; RNA Mensageiro/genética; RNA Mensageiro/metabolismo; Complexo Shelterina; Telomerase/metabolismo; Homeostase do Telômero/genética; Proteínas de Ligação a Telômeros

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Medula Óssea / Doenças da Medula Óssea / Telômero / Mutação em Linhagem Germinativa / Telomerase / Padrões de Herança / Serina Proteases Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2014 Tipo de documento: Article

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