Syndromic inherited poikiloderma due to a de novo mutation in FAM 111B-Reference-Cited by-同舟云学术

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Syndromic inherited poikiloderma due to a de novo mutation in FAM 111B

Published:2016-12-22 Issue:2 Volume:176 Page:534-536
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takeichi T.¹²,Nanda A.³,Yang H.‐S.⁴,Hsu C.‐K.⁴⁵,Lee J.Y.‐Y.⁴,Al‐Ajmi H.³,Akiyama M.²,Simpson M.A.⁶,McGrath J.A.¹

Affiliation:

1. St John's Institute of Dermatology King's College London Guy's Hospital London U.K

2. Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan

3. As'ad Al‐Hamad Dermatology Center Al‐Sabah Hospital Kuwait

4. Department of Dermatology National Cheng Kung University Hospital National Cheng Kung University Tainan Taiwan

5. Institute of Clinical Medicine College of Medicine National Cheng Kung University Tainan Taiwan

6. Department of Genetics and Molecular Medicine King's College London Guy's Hospital London U.K

Funder

National Institute for Health Research

Great Britain Sasakawa Foundation

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.14845

Reference6 articles.

1. Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

2. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

3. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction

4. Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese

Cited by 22 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. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29

2. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length;Frontiers in Cell and Developmental Biology;2023-06-05

3. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere length;2023-01-23

4. FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening;Cancer Treatment and Research Communications;2023

5. A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype;Calcified Tissue International;2022-12-27

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