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James German and the Quest to Understand Human RECQ Helicase Deficiencies.
Monnat, Raymond J.
Afiliação
  • Monnat RJ; Departments of Laboratory Medicine/Pathology and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Cells ; 13(13)2024 Jun 21.
Article em En | MEDLINE | ID: mdl-38994931
ABSTRACT
James German's work to establish the natural history and cancer risk associated with Bloom syndrome (BS) has had a strong influence on the generation of scientists and clinicians working to understand other RECQ deficiencies and heritable cancer predisposition syndromes. I summarize work by us and others below, inspired by James German's precedents with BS, to understand and compare BS with the other heritable RECQ deficiency syndromes with a focus on Werner syndrome (WS). What we know, unanswered questions and new opportunities are discussed, as are potential ways to treat or modify WS-associated disease mechanisms and pathways.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Werner / Síndrome de Bloom / RecQ Helicases Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Werner / Síndrome de Bloom / RecQ Helicases Idioma: En Ano de publicação: 2024 Tipo de documento: Article