Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Genetic and Clinical Progression of MYSM1 Related Bone Marrow Failure into Myeloid Malignancies: Case Series and Review of Literature.
Haroon A et al.
Clinical Hematology International, 2025
Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.
de Tocqueville S et al.
British Journal of Haematology, 2024
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
Sakovich IS et al.
Journal of Clinical Immunology, 2023
A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4.
Zhan X et al.
British Journal of Biomedical Science, 2021
[A novel compound heterozygous mutation in MYSM1 gene in a 1-month-old girl: a bone marrow failure syndrome 4 family survey and literature review].
Huang J et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Miyazawa H et al.
Frontiers in Immunology, 2021
Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.
Li N et al.
Gene, 2020
Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review.
Fiore A et al.
International Journal of Molecular Sciences, 2020
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.
Bahrami E et al.
The Journal of Allergy and Clinical Immunology, 2017
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
Le Guen T et al.
The Journal of Allergy and Clinical Immunology, 2015
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