Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient-Reference-Cited by-同舟云学术

Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient

Published:2024-02-28 Issue:1 Volume:25 Page:
ISSN:2090-2441
Container-title:Egyptian Journal of Medical Human Genetics
language:en
Short-container-title:Egypt J Med Hum Genet

Author:

Catapano Rosa,Russo Filippo,Rosetti Marco,Poletti Giovanni,Trombetti Silvia,Sessa Raffaele,Fasano Tommaso,Maoggi Sauro,Roperto Sante,Grosso Michela^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s43042-024-00497-3.pdf

Reference12 articles.

1. Steensma DP, Gibbons RJ, Higgs DR (2005) Acquired α-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood 105:443–452. https://doi.org/10.1182/blood-2004-07-2792

2. Stelzer G, Rosen N, Plaschkes I, Zimmerman S, Twik M, Fishilevich S et al (2016) The GeneCards suite: from gene data mining to disease genome sequence analyses. CP Bioinform 54:1–30. https://doi.org/10.1002/cpbi.5

3. Aguilera P, López-Contreras AJ (2023) ATRX, a guardian of chromatin. Trends Genet 39:505–519. https://doi.org/10.1016/j.tig.2023.02.009

4. Ratnakumar K, Duarte LF, LeRoy G, Hasson D, Smeets D, Vardabasso C et al (2012) ATRX-mediated chromatin association of histone variant macroH2A1 regulates α-globin expression. Genes Dev 26:433–438. https://doi.org/10.1101/gad.179416.111

5. Gibbons RJ, Higgs DR (2000) Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97:204–212. https://doi.org/10.1002/1096-8628(200023)97:3%3c204::AID-AJMG1038%3e3.0.CO;2-X

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1. Evolution of acquired haemoglobin H disease monitored by capillary electrophoresis: a case of a myelofibrotic patient with a novel ATRX mutation;Clinical Chemistry and Laboratory Medicine (CCLM);2024-06-12