James German and the Quest to Understand Human RECQ Helicase Deficiencies.
Cells
; 13(13)2024 Jun 21.
Article
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| 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 datos:
MEDLINE
Asunto principal:
Síndrome de Werner
/
Síndrome de Bloom
/
RecQ Helicasas
Idioma:
En
Revista:
Cells
Año:
2024
Tipo del documento:
Article