James German and the Quest to Understand Human RECQ Helicase Deficiencies-Reference-Cited by-同舟云学术

James German and the Quest to Understand Human RECQ Helicase Deficiencies

Published:2024-06-21 Issue:13 Volume:13 Page:1077
ISSN:2073-4409
Container-title:Cells
language:en
Short-container-title:Cells

Author:

Monnat Raymond J.¹^ORCID

Affiliation:

1. Departments of Laboratory Medicine/Pathology and Genome Sciences, University of Washington, Seattle, WA 98195, USA

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.

Funder

US NIH

Nippon Boehringer Ingelheim Virtual Research Institute of Aging Research Program

“RECQ2016—Partnering for Progress”

Seattle Cancer and Aging Program Pilot grant program

UW NIA-funded Nathan Shock Center

Publisher

MDPI AG

Link

https://www.mdpi.com/2073-4409/13/13/1077/pdf

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