Literature DB >> 28138148

Many faces of SMCHD1.

Andrew O M Wilkie1.   

Abstract

The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.

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Year:  2017        PMID： 28138148     DOI： 10.1038/ng.3776

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  8 in total

1.  Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.

Authors:  Chen-Yu Wang; Harrison Brand; Natalie D Shaw; Michael E Talkowski; Jeannie T Lee
Journal:  Genetics       Date:  2019-08-16       Impact factor: 4.562

Review 2.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

Review 3.  Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine.

Authors:  Brian W Basinski; Daniel A Balikov; Michael Aksu; Qiang Li; Rajesh C Rao
Journal:  Trends Mol Med       Date:  2021-02-08       Impact factor: 11.951

4.  Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.

Authors:  Rajkumar Dorajoo; Xuling Chang; Resham Lal Gurung; Zheng Li; Ling Wang; Renwei Wang; Kenneth B Beckman; Jennifer Adams-Haduch; Yiamunaa M; Sylvia Liu; Wee Yang Meah; Kar Seng Sim; Su Chi Lim; Yechiel Friedlander; Jianjun Liu; Rob M van Dam; Jian-Min Yuan; Woon-Puay Koh; Chiea Chuen Khor; Chew-Kiat Heng
Journal:  Nat Commun       Date:  2019-06-06       Impact factor: 14.919

5.  A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1.

Authors:  Lars C Pedersen; Kaoru Inoue; Susan Kim; Lalith Perera; Natalie D Shaw
Journal:  Commun Biol       Date:  2019-07-10

6.  The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

Authors:  Claudia Strafella; Valerio Caputo; Rosaria Maria Galota; Giulia Campoli; Cristina Bax; Luca Colantoni; Giulietta Minozzi; Chiara Orsini; Luisa Politano; Giorgio Tasca; Giuseppe Novelli; Enzo Ricci; Emiliano Giardina; Raffaella Cascella
Journal:  Hum Mol Genet       Date:  2019-12-01       Impact factor: 6.150

Review 7.  Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.

Authors:  Teresa Schätzl; Lars Kaiser; Hans-Peter Deigner
Journal:  Orphanet J Rare Dis       Date:  2021-03-12       Impact factor: 4.123

8.  A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.

Authors:  Remko Goossens; Mara S Tihaya; Anita van den Heuvel; Klorane Tabot-Ndip; Iris M Willemsen; Stephen J Tapscott; Román González-Prieto; Jer-Gung Chang; Alfred C O Vertegaal; Judit Balog; Silvère M van der Maarel
Journal:  Sci Rep       Date:  2021-12-08       Impact factor: 4.996
  8 in total

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