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SMCHD1 & Inactive X Chromosome

SMCHD1 & Inactive X Chromosome diagram by Lilymclaughlin01, Wikimedia
Lilymclaughlin01, Wikimedia

Mutations in SMCHD1 are associated with several human diseases including a severe form of muscular dystrophy. Recent studies have found this protein to be essential for X chromosome inactivation. Here is the latest research.

Top 20 most recent papers
F1000Research

The B-side of Xist

F1000ResearchFebruary 13, 2020
Asun Monfort, Anton Wutz
bioRxiv

UHRF1-SRA recognizes symmetric non-CG methylated DNA through dual-flip out of 5-methyl cytosines

bioRxivDecember 19, 2019
Naveen Kumar NakarakantiEerappa Rajakumara
5
33
19
bioRxiv

Smchd1 is a maternal effect gene required for autosomal imprinting

bioRxivJanuary 21, 2020
Iromi WanigasuriyaMarnie E. Blewitt
31
Developmental Cell

Silencing Trisomy 21 with XIST in Neural Stem Cells Promotes Neuronal Differentiation

Developmental CellJanuary 25, 2020
Jan Tomasz Czermiński, Jeanne Bentley Lawrence
12
1
Journal of the National Cancer Institute

Extreme down-regulation of chromosome Y and cancer risk in men

Journal of the National Cancer InstituteJanuary 17, 2020
Alejandro CáceresJuan R González
35
33
2
bioRxiv

Structural modularity of the XIST ribonucleoprotein complex

bioRxivNovember 24, 2019
Zhipeng LuHoward Chang
24
Continuum : Lifelong Learning in Neurology

Facioscapulohumeral Muscular Dystrophies

Continuum : Lifelong Learning in NeurologyDecember 4, 2019
Kathryn R Wagner
5
1
European Journal of Human Genetics : EJHG

Novel clinical and genetic insight into CXorf56-associated intellectual disability

European Journal of Human Genetics : EJHGDecember 12, 2019
Maria Eugenia RochaAida M Bertoli-Avella
6
Open Biology

Localized accumulation of Xist RNA in X chromosome inactivation

Open BiologyDecember 5, 2019
Neil Brockdorff
16

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