SMCHD1 & Inactive X Chromosome

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.

January 17, 2020

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

Journal of the National Cancer Institute
Alejandro CáceresJuan R González
December 31, 2019

Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy

Muscle & Nerve
Johanna HamelJeffrey M Statland
June 10, 2020
Open Access

Ultra-Deep DNA Methylation Analysis of X-Linked Genes: GLA and AR as Model Genes

Giulia De RisoLorenzo Chiariotti
January 17, 2020
Open Access

The effects of the DNA Demethylating reagent, 5-azacytidine on SMCHD1 genomic localization

BMC Genetics
S MassahG G Prefontaine
December 28, 2019
Case Report

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

American Journal of Medical Genetics. Part a
Bryce A MendelsohnAnne M Slavotinek
November 19, 2019

In vivo Firre and Dxz4 deletion elucidates roles for autosomal gene regulation

Daniel AndergassenJohn L Rinn
February 6, 2020
Open Access

A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants

Molecular Syndromology
Anna SandestigMargarita Stefanova
January 27, 2020

Incontinentia pigmenti in boys: Causes and consequences

Annales de dermatologie et de vénéréologie
A ChambellandSociété française de dermatologie pédiatrique research group
November 27, 2019
Open Access

Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age

Nature Communications
Antonino ZitoKerrin S Small
February 22, 2020

SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres

The EMBO Journal
Aleksandra VančevskaJoachim Lingner
February 21, 2020
Open Access

Forged by DXZ4 , FIRRE , and ICCE : How Tandem Repeats Shape the Active and Inactive X Chromosome

Frontiers in Cell and Developmental Biology
Prakhar BansalS. F. Pinter
February 7, 2020

SPEN integrates transcriptional and epigenetic control of X-inactivation

François DossinEdith Heard
June 9, 2020
Case Report
Open Access

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

Frontiers in Immunology
Daniel C JulienPriya S Kishnani
July 3, 2020
Open Access

Chromosome Compartments on the Inactive X Guide TAD Formation Independently of Transcription during X-Reactivation

BioRxiv : the Preprint Server for Biology
M. BauerBernhard Payer
February 13, 2020
Open Access

The B-side of Xist

Asun Monfort, Anton Wutz
June 20, 2020

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Proceedings of the National Academy of Sciences of the United States of America
Eszter BaloghKálmán Tory

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