Literature DB >> 24288411

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.

Abdulrahman Alsultan1, Hanan E Shamseldin, Mohamed Elfaki Osman, Mansour Aljabri, Fowzan S Alkuraya.   

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Year:  2013        PMID: 24288411     DOI: 10.1182/blood-2013-09-527127

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  14 in total

1.  The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:  Jacob C Ulirsch; Jeffrey M Verboon; Shideh Kazerounian; Michael H Guo; Daniel Yuan; Leif S Ludwig; Robert E Handsaker; Nour J Abdulhay; Claudia Fiorini; Giulio Genovese; Elaine T Lim; Aaron Cheng; Beryl B Cummings; Katherine R Chao; Alan H Beggs; Casie A Genetti; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Adrianna Vlachos; Jeffrey M Lipton; Eva Atsidaftos; Bertil Glader; Anupama Narla; Pierre-Emmanuel Gleizes; Marie-Françoise O'Donohue; Nathalie Montel-Lehry; David J Amor; Steven A McCarroll; Anne H O'Donnell-Luria; Namrata Gupta; Stacey B Gabriel; Daniel G MacArthur; Eric S Lander; Monkol Lek; Lydie Da Costa; David G Nathan; Andrei A Korostelev; Ron Do; Vijay G Sankaran; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2018-11-29       Impact factor: 11.025

2.  A role for the histone H2A deubiquitinase MYSM1 in maintenance of CD8+ T cells.

Authors:  Michael Förster; Rupinder K Boora; Jessica C Petrov; Nassima Fodil; Isabella Albanese; Jamie Kim; Philippe Gros; Anastasia Nijnik
Journal:  Immunology       Date:  2017-02-20       Impact factor: 7.397

3.  MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.

Authors:  Jad I Belle; HanChen Wang; Amanda Fiore; Jessica C Petrov; Yun Hsiao Lin; Chu-Han Feng; Thi Tuyet Mai Nguyen; Jacky Tung; Philippe M Campeau; Uta Behrends; Theresa Brunet; Gloria Sarah Leszinski; Philippe Gros; David Langlais; Anastasia Nijnik
Journal:  JCI Insight       Date:  2020-07-09

4.  Genetics and genomic medicine in Saudi Arabia.

Authors:  Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2014-07-30       Impact factor: 2.183

5.  Deubiquitinase MYSM1 Is Essential for Normal Bone Formation and Mesenchymal Stem Cell Differentiation.

Authors:  Ping Li; Yan-Mei Yang; Suzi Sanchez; Dian-Chao Cui; Rui-Jie Dang; Xiao-Yan Wang; Qiu-Xia Lin; Yan Wang; Changyong Wang; Da-Fu Chen; Si-Yi Chen; Xiao-Xia Jiang; Ning Wen
Journal:  Sci Rep       Date:  2016-02-26       Impact factor: 4.379

6.  Mysm1 is required for interferon regulatory factor expression in maintaining HSC quiescence and thymocyte development.

Authors:  X F Huang; V Nandakumar; G Tumurkhuu; T Wang; X Jiang; B Hong; L Jones; H Won; H Yoshii; K Ozato; A Masumi; S-Y Chen
Journal:  Cell Death Dis       Date:  2016-06-09       Impact factor: 8.469

Review 7.  Fine-tuning the ubiquitin code at DNA double-strand breaks: deubiquitinating enzymes at work.

Authors:  Elisabetta Citterio
Journal:  Front Genet       Date:  2015-09-08       Impact factor: 4.599

8.  Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.

Authors:  Kifayathullah Liakath-Ali; Valerie E Vancollie; Emma Heath; Damian P Smedley; Jeanne Estabel; David Sunter; Tia Ditommaso; Jacqueline K White; Ramiro Ramirez-Solis; Ian Smyth; Karen P Steel; Fiona M Watt
Journal:  Nat Commun       Date:  2014-04-11       Impact factor: 14.919

9.  Repression of p53-target gene Bbc3/PUMA by MYSM1 is essential for the survival of hematopoietic multipotent progenitors and contributes to stem cell maintenance.

Authors:  J I Belle; J C Petrov; D Langlais; F Robert; R Cencic; S Shen; J Pelletier; P Gros; A Nijnik
Journal:  Cell Death Differ       Date:  2016-01-15       Impact factor: 15.828

10.  MYSM1 Is Essential for Maintaining Hematopoietic Stem Cell (HSC) Quiescence and Survival.

Authors:  Yi Huo; Bing-Yi Li; Zhi-Feng Lin; Wei Wang; Xiao-Xia Jiang; Xu Chen; Wen-Jin Xi; An-Gang Yang; Si-Yi Chen; Tao Wang
Journal:  Med Sci Monit       Date:  2018-04-25
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