A novel missense mutation outside the <scp>DNAJ</scp> domain of <scp> <i>DNAJC21</i> </scp> is associated with <scp>Shwachman–Diamond</scp> syndrome-Reference-Cited by-同舟云学术

A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman–Diamond syndrome

Published:2022-03-17 Issue:6 Volume:197 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Alsavaf Mohammad Bilal¹²^ORCID,Verboon Jeffrey M.³⁴⁵^ORCID,Dogan Muhammet E.⁶^ORCID,Azizoglu Zehra Busra²⁷^ORCID,Okus Fatma Zehra¹⁸^ORCID,Ozcan Alper¹^ORCID,Dundar Munis⁶^ORCID,Eken Ahmet²⁷^ORCID,Donmez‐Altuntas Hamiyet⁷^ORCID,Sankaran Vijay G.³⁴⁵^ORCID,Unal Ekrem¹²⁹^ORCID

Affiliation:

1. Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics Erciyes University, Faculty of Medicine Kayseri Turkey

2. Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK) Erciyes University, Faculty of Medicine Kayseri Turkey

3. Division of Hematology/Oncology Boston Children's Hospital, Harvard Medical School Boston MA USA

4. Department of Pediatric Oncology Dana‐Farber Cancer Institute, Harvard Medical School Boston MA USA

5. Broad Institute of MIT and Harvard Cambridge MA USA

6. Department of Medical Genetic Erciyes University Kayseri Turkey

7. Department of Medical Biology Erciyes University, Faculty of Medicine Kayseri Turkey

8. University College of London, Institute of Immunity and Transplantation, Royal Free Hospital London UK

9. Department of Blood Banking and Transfusion Medicine Health Science Institution, Erciyes University Kayseri Turkey

Funder

Erciyes Üniversitesi

Foundation for the National Institutes of Health

National Eye Institute

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

New York Stem Cell Foundation

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18112

Reference16 articles.

1. Unraveling Hematopoiesis through the Lens of Genomics

2. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

3. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

4. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

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