Germline ERCC excision repair 6 like 2 ( <scp> <i>ERCC6L2</i> </scp> ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment-Reference-Cited by-同舟云学术

Germline ERCC excision repair 6 like 2 ( ERCC6L2 ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

Published:2022-09-26 Issue:5 Volume:199 Page:754-764
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Armes Hannah¹^ORCID,Bewicke‐Copley Findlay¹^ORCID,Rio‐Machin Ana¹^ORCID,Di Bella Doriana²,Philippe Céline²^ORCID,Wozniak Anna¹,Tummala Hemanth³,Wang Jun¹,Ezponda Teresa⁴,Prosper Felipe⁴⁵,Dokal Inderjeet³,Vulliamy Tom³,Kilpivaara Outi⁶⁷⁸^ORCID,Wartiovaara‐Kautto Ulla⁶⁹,Fitzgibbon Jude¹^ORCID,Rouault‐Pierre Kevin²^ORCID

Affiliation:

1. Centre for Genomics and Computational Biology Barts Cancer Institute, Queen Mary University of London London UK

2. Centre for Haemato‐Oncology Barts Cancer Institute, Queen Mary University of London London UK

3. Centre for Genomics and Child Health Blizard Institute, Queen Mary University of London London UK

4. Área de Hemato‐Oncología CIMA Universidad de Navarra, Instituto de Investigación Sanitaria de Navarra (IDISNA), Centro de Investigación Biomédica en Red de Cáncer, CIBERONC Pamplona Spain

5. Clínica Universidad de Navarra Pamplona Spain

6. Applied Tumor Genomics Research Program, Faculty of Medicine University of Helsinki Helsinki Finland

7. HUSLAB Laboratory of Genetics, HUS Diagnostic Center Helsinki University Hospital Helsinki Finland

8. Department of Medical and Clinical Genetics, Medicum, Faculty of Medicine University of Helsinki Helsinki Finland

9. Department of Hematology Helsinki University Hospital Comprehensive Cancer Center Helsinki Finland

Funder

Blood Cancer UK

Cancer Research UK

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18466

Reference32 articles.

1. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

2. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

3. ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

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

5. Germline variants drive myelodysplastic syndrome in young adults

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1. First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene;British Journal of Haematology;2023-09-11

2. Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle;Frontiers in Oncology;2023-04-06

3. The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute Leukemia;Blood;2023-03-23