Investigation of the molecular causes underlying physical abnormalities in Diamond‐Blackfan anemia patients with RPL5 haploinsufficiency-Reference-Cited by-同舟云学术

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Investigation of the molecular causes underlying physical abnormalities in Diamond‐Blackfan anemia patients with RPL5 haploinsufficiency

Published:2021-09-29 Issue:12 Volume:71 Page:803-813
ISSN:1320-5463
Container-title:Pathology International
language:en
Short-container-title:Pathology International

Author:

Fukui Yuko¹,Hayano Satoru¹²^ORCID,Kawanabe Noriaki¹,Wang Ziyi¹³,Shimada Akira⁴⁵,Saito Megumu K.⁶,Asaka Isao⁷,Kamioka Hiroshi¹

Affiliation:

1. Department of Orthodontics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Okayama University Okayama Japan

2. Department of Orthodontics Okayama University Hospital Okayama Japan

3. Research Fellow of Japan Society for the Promotion of Science Tokyo Japan

4. Department of Pediatric Hematology/Oncology Okayama University Hospital Okayama Japan

5. Department of Pediatrics Jichi Medical University Tochigi Japan

6. Department of Clinical Application, Center for iPS Cell Research and Application Kyoto University Kyoto Japan

7. Department of Fundamental Cell Technology, Center for iPS Cell Research and Application Kyoto University Kyoto Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pin.13168

Reference41 articles.

1. Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis

2. Diamond‐Blackfan anaemia in the U.K.: analysis of 80 cases from a 20‐year birth cohort

3. Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients

4. The Genetic Landscape of Diamond-Blackfan Anemia

5. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

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