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Article

Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.

The Journal of allergy and clinical immunology - 1 Oct 2017

Bahrami Ehsan, Witzel Maximilian, Racek Tomas, Puchałka Jacek, Hollizeck Sebastian, Greif-Kohistani Naschla, Kotlarz Daniel, Horny Hans-Peter, Feederle Regina, Schmidt Heinrich, Sherkat Roya, Steinemann Doris, Göhring Gudrun, Schlegelbeger Brigitte, Albert Michael H, Al-Herz Waleed, Klein Christoph

Abstract excerpt

BACKGROUND: Myb-like, SWIRM, and MPN domains 1 (MYSM1) is a transcriptional regulator mediating histone deubiquitination. Its role in human immunity and hematopoiesis is poorly understood. OBJECTIVES: We sought to investigate the clinical, cellular, and molecular features in 2 siblings presenting with progressive bone marrow failure (BMF), immunodeficiency, and developmental aberrations. METHODS: We performed...

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Source

Identifiers

PMID: 28115216
DOI: 10.1016/j.jaci.2016.10.053

Genes

MYSM1
BMF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.PMID 28115216Read ↗

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