Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Habib, Raneem; Kim, Ryong; Neitzel, Heidemarie; Demuth, Ilja; Chrzanowska, Krystyna; Seemanova, Eva; Faber, Renaldo; Digweed, Martin; Voss, Reinhard; Jäger, Kathrin; Sperling, Karl; Walter, Michael

Habib, Raneem; Kim, Ryong; Neitzel, Heidemarie; Demuth, Ilja; Chrzanowska, Krystyna; Seemanova, Eva; Faber, Renaldo; Digweed, Martin; Voss, Reinhard; Jäger, Kathrin; Sperling, Karl; Walter, Michael.

Afiliação

Habib R; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
Kim R; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Neitzel H; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Demuth I; Institute of Clinical Chemistry, Red-Cross General Hospital, Pyongyang, Democratic People's Republic of Korea.
Chrzanowska K; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Seemanova E; Department of Endocrinology and Metabolism, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Germany.
Faber R; Charité - Universitätsmedizin Berlin, BCRT - Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany.
Digweed M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Voss R; Department of Clinical Genetics, Institute of Biology and Medical Genetics, Second Medical School, Charles University, Prague, Czech Republic.
Jäger K; Center for Prenatal Medicine, Leipzig, Germany.
Sperling K; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Walter M; Integrated Functional Genomics, Interdisciplinary Center for Clinical Research, University of Münster, Münster, Germany.

Aging (Albany NY) ; 12(12): 12342-12375, 2020 06 20.

Article em En | MEDLINE | ID: mdl-32564008

Assuntos

Proteínas de Ciclo Celular/genética; Síndrome de Quebra de Nijmegen/complicações; Proteínas Nucleares/genética; Progéria/genética; Homeostase do Telômero/genética; Telômero/patologia; Adolescente; Animais; Linhagem Celular Tumoral; Criança; Pré-Escolar; Modelos Animais de Doenças; Feminino; Heterozigoto; Homozigoto; Humanos; Lactente; Cariotipagem; Masculino; Camundongos; Camundongos Transgênicos; Síndrome de Quebra de Nijmegen/genética; Síndrome de Quebra de Nijmegen/patologia; Progéria/patologia; Telomerase/metabolismo; Adulto Jovem

Palavras-chave

DNA repair; alternative lengthening of telomeres; nibrin; nijmegen breakage syndrome; telomere-position effect over long distances

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Progéria / Proteínas Nucleares / Telômero / Proteínas de Ciclo Celular / Síndrome de Quebra de Nijmegen / Homeostase do Telômero Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Aging (Albany NY) Assunto da revista: GERIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha

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