TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity-Reference-Cited by-同舟云学术

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TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity

Published:2020-03-09 Issue:3 Volume:42 Page:316-321
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hem

Author:

Terada Kazuki¹²,Miyake Koichi¹,Yamaguchi Hiroki²^ORCID,Miyake Noriko¹,Yamanaka Keiichiro²,Kojima Seiji³,Ito Etsuro⁴,Inokuchi Koiti²,Okada Takashi¹⁵

Affiliation:

1. Department of Biochemistry and Molecular Biology Nippon Medical School Tokyo Japan

2. Department of Hematology Nippon Medical School Tokyo Japan

3. Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan

4. Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan

5. Division of Molecular and Medical Genetics The Institute of Medical Science,The University of Tokyo Tokyo Japan

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13176

Reference28 articles.

1. Dyskeratosis congenita: a genetic disorder of many faces

2. Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

3. Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

4. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

5. Telomeres: protecting chromosomes against genome instability

Cited by 4 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. Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review;Genetics in Medicine;2023-03

2. Relative Leukocyte Telomere Length and Telomerase Complex Regulatory Markers Association with Leber’s Hereditary Optic Neuropathy;Medicina;2022-09-07

3. Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia;Pediatric Blood & Cancer;2022-08-04

4. Dermoscopic and onychoscopic features of dyskeratosis congenita;Indian Dermatology Online Journal;2022

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