Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice-Reference-Cited by-同舟云学术

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Published:2018-09-27 Issue:13 Volume:132 Page:1399-1412
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Hofmann Inga¹²^ORCID,Geer Mitchell J.³^ORCID,Vögtle Timo³,Crispin Andrew²,Campagna Dean R.²,Barr Alastair⁴^ORCID,Calicchio Monica L.²,Heising Silke³,van Geffen Johanna P.⁵,Kuijpers Marijke J. E.⁵^ORCID,Heemskerk Johan W. M.⁵,Eble Johannes A.⁶,Schmitz-Abe Klaus⁷,Obeng Esther A.⁸,Douglas Michael⁹¹⁰¹¹,Freson Kathleen¹²^ORCID,Pondarré Corinne¹³¹⁴,Favier Rémi¹⁵¹⁶^ORCID,Jarvis Gavin E.¹⁷^ORCID,Markianos Kyriacos²^ORCID,Turro Ernest¹⁸¹⁹^ORCID,Ouwehand Willem H.²⁰²¹²²^ORCID,Mazharian Alexandra³^ORCID,Fleming Mark D.²^ORCID,Senis Yotis A.³^ORCID

Affiliation:

1. Division of Hematology, Oncology, and Bone Marrow Transplantation, Department of Pediatrics, University of Wisconsin, Madison, WI;

2. Department of Pathology, Boston Children’s Hospital, Boston, MA;

3. Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom;

4. Department of Biomedical Science, University of Westminster, London, United Kingdom;

5. Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands;

6. Institute of Physiological Chemistry and Pathobiochemistry, University of Münster, Münster, Germany;

7. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA;

8. Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA;

9. Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom;

10. Department of Neurology, Russells Hall Hospital, Dudley Group National Health Service (NHS) Foundation Trust, Dudley, United Kingdom;

11. School of Life and Health Sciences, Aston University, Birmingham, United Kingdom;

12. Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium;

13. Service de pédiatrie, Centre de référence de la Drépanocytose, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France;

14. INSERM Unité 955, University Paris-Est Créteil, Créteil, France;

15. Assistance Publique-Hôpitaux de Paris, A Trousseau children hospital, French reference centre for platelet disorders, Paris, France;

16. Gustave Roussy Institute, Unité Mixte de Recherche (UMR) 1170, Villejuif, France;

17. Department of Physiology, Development and Neuroscience,

18. Department of Haematology, and

19. MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom;

20. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom;

21. Department of Haematology, University of Cambridge, Cambridge, United Kingdom; and

22. NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom

Abstract

Key Points Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/132/13/1399/1467435/blood802769.pdf

Reference47 articles.

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3. Pancytopenia with myelofibrosis. An unusual presentation of childhood Hodgkin’s disease;Carroll;Clin Pediatr (Phila),1986

4. Myelofibrosis associated with severe vitamin D deficiency rickets;Balkan;J Int Med Res,2005

5. Myelofibrosis in severe combined immunodeficiency due to vitamin D deficiency rickets;al-Eissa;Acta Haematol,1994

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