RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting

Mechanisms of Ageing and Development
Junko OshimaKoutaro Yokote

Abstract

Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. The RecQ disorders Cockayne syndrome and xeroderma pigmentosum result from disease-causing DNA sequence variants in genes involved in the nucleotide excision repair pathway. RECQ2018: The International Meeting on RECQ Helicases and Related Diseases was held on February 16-18, 2018 in Chiba, Japan. The purpose of the meeting was to facilitate clinical and research collaborations for the goal of developing effective treatments for RECQ disorders and other progeroid syndromes.

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Citations

Dec 6, 2018·Current Opinion in Endocrinology, Diabetes, and Obesity·Jack BrzezinskiJonathan D Wasserman
Nov 14, 2019·Current Pharmaceutical Design·Calogero CarusoAnnibale Puca
Oct 11, 2019·International Journal of Molecular Sciences·Pauline Billard, Delphine A Poncet
Mar 16, 2021·Frontiers in Cell and Developmental Biology·Huiming Lu, Anthony J Davis
Sep 7, 2021·Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics

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