From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.

Dodson, Lois M; Baldan, Alessandro; Nissbeck, Mikael; Gunja, Sethu M R; Bonnen, Penelope E; Aubert, Geraldine; Birchansky, Sherri; Virtanen, Anders; Bertuch, Alison A

Dodson, Lois M; Baldan, Alessandro; Nissbeck, Mikael; Gunja, Sethu M R; Bonnen, Penelope E; Aubert, Geraldine; Birchansky, Sherri; Virtanen, Anders; Bertuch, Alison A.

Afiliação

Dodson LM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Baldan A; Department of Pediatrics, Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
Nissbeck M; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
Gunja SMR; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Aubert G; Repeat Diagnostics Inc., North Vancouver, British Columbia, Canada.
Birchansky S; Department of Radiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
Virtanen A; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
Bertuch AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Hum Mutat ; 40(12): 2414-2429, 2019 12.

Article em En | MEDLINE | ID: mdl-31448843

Assuntos

Disceratose Congênita/genética; Exorribonucleases/genética; Retardo do Crescimento Fetal/genética; Deficiência Intelectual/genética; MicroRNAs/genética; Microcefalia/genética; Mutagênese Insercional; Mutação de Sentido Incorreto; Adolescente; Linhagem Celular; Pré-Escolar; Regulação para Baixo; Exorribonucleases/metabolismo; Feminino; Humanos; Masculino; Linhagem; Penetrância; Encurtamento do Telômero

Palavras-chave

MIR202; PARN; idiopathic pulmonary fibrosis; incomplete penetrance; poly(A)-specific ribonuclease; telomere biology disorder

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutagênese Insercional / Disceratose Congênita / Mutação de Sentido Incorreto / MicroRNAs / Exorribonucleases / Retardo do Crescimento Fetal / Deficiência Intelectual / Microcefalia Limite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article

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