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.

September 8, 2020
Open Access

Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I)

Italian Journal of Pediatrics
Agnieszka BerendtAnna Kwaśniewska
August 21, 2020

A single-cell transcriptome atlas of marsupial embryogenesis and X inactivation

Shantha K MahadevaiahJames M A Turner
September 23, 2020
Open Access

Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis

Molecular Genetics & Genomic Medicine
María Carolina ManotasAdriana Rojas
June 10, 2020
Open Access

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

Giulia De RisoLorenzo Chiariotti
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
July 11, 2020

Epigenetic Regulation of DNA Repair Pathway Choice by MacroH2A1 Splice Variants Ensures Genome Stability

Molecular Cell
Robin SebastianPhilipp Oberdoerffer
October 23, 2020
Open Access

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

BMC Medical Genetics
Anastasiya Aleksandrovna KozinaValery Vladimirovich Ilinsky
February 22, 2020
Open Access

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

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

Independent recruitment of PRC1 and PRC2 by human XIST

BioRxiv : the Preprint Server for Biology
T. Dixon-McDougall, Carolyn J Brown
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
July 12, 2020

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome

Human Mutation
Hsiao-Jung KaoNi-Chung Lee
February 7, 2020
Open Access

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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