Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM-Reference-Cited by-同舟云学术

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Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

Published:2015-11-26 Issue:1 Volume:4 Page:106-119
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Shastri Vivek M.¹²,Schmidt Kristina H.¹³

Affiliation:

1. Department of Cell Biology, Microbiology and Molecular Biology University of South Florida Tampa Florida 33620

2. Graduate Program in Cell and Molecular Biology University of South Florida Tampa Florida 33620

3. Cancer Biology and Evolution Program H. Lee Moffitt Cancer Center and Research Institute Tampa Florida 33612

Funder

National Institute of General Medical Sciences

National Institutes of Health

University of South Florida

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.188

Reference72 articles.

1. A method and server for predicting damaging missense mutations

2. Mobile D-loops are a preferred substrate for the Bloom's syndrome helicase

3. Identification of a novelBLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome

4. The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. TRF2–RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM–DNA2-dependent 5′-end resection;Nucleic Acids Research;2024-07-31

2. Congenital Telangiectatic Erythema: Scoping Review;JMIR Dermatology;2023-10-05

3. Biochemical properties of naturally occurring human bloom helicase variants;PLOS ONE;2023-06-02

4. Congenital Telangiectatic Erythema: Scoping Review (Preprint);2023-04-22

5. Biochemical Properties of Naturally Occurring Human Bloom Helicase Variants;2023-01-26

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