A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant-Reference-Cited by-同舟云学术

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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant

Published:2024-03-15 Issue:5 Volume:119 Page:603-607
ISSN:0925-5710
Container-title:International Journal of Hematology
language:en
Short-container-title:Int J Hematol

Author:

Ohashi Takuma,Kunimoto Hiroyoshi,Nukui Jun,Teshigawara Haruka,Koyama Satoshi,Miyazaki Takuya,Hagihara Maki,Matsumoto Kenji,Koshimizu Eriko,Tsuchida Naomi,Hamanoue Haruka,Miyatake Satoko,Yachie Akihiro,Matsumoto Naomichi,Nakajima Hideaki

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Takeda Science Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12185-024-03751-x.pdf

Reference15 articles.

1. Cunniff C, Jennifer A, Nathan A. Bloom’s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol. 2017;8(1):4–23.

2. German J. Bloom’s syndrome. Dermatol Clin. 1995;13:7–18.

3. Enomoto T. Functions of RecQ family helicases: possible involvement of Bloom’s and Werner’s syndrome gene products in guarding genome integrity during DNA replication. J Biochem. 2001;129:501–17.

4. Seki M, Otsuki M, Ishii Y, Tada S, Enomoto T. RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells. Cell Cycle. 2008;7:2472–8.

5. Lindor M, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S. Rothmund-Thomson syndrome due to ReCQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet. 2000;90:223–8.

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