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.

October 25, 2021

Transcriptional repression in stochastic gene expression, patterning, and cell fate specification.

Developmental Biology
Lukas Voortman, Robert J Johnston
October 23, 2021

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

European Journal of Medical Genetics
Bianca Barbosa AbdalaCíntia Barros Santos-Rebouças
October 21, 2021
Open Access

Maternal SMCHD1 controls both imprinted Xist expression and imprinted X chromosome inactivation

BioRxiv : the Preprint Server for Biology
I. WanigasuriyaQuentin Gouil
October 20, 2021

ASMdb: a comprehensive database for allele-specific DNA methylation in diverse organisms.

Nucleic Acids Research
Qiangwei ZhouGuoliang Li
October 19, 2021
Open Access

Asynchronous Replication Timing: A Mechanism for Monoallelic Choice During Development.

Frontiers in Cell and Developmental Biology
Yehudit BergmanHoward Cedar
October 19, 2021
Case Report
Open Access

Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRORF15-Associated Retinal Disorder.

Frontiers in Genetics
Aekkachai TuekprakhonLa-Ongsri Atchaneeyasakul
October 16, 2021
Open Access

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

BioRxiv : the Preprint Server for Biology
Antonino ZitoK. S. Small
October 15, 2021

Four-dimensional chromosome reconstruction elucidates the spatiotemporal reorganization of the mammalian X chromosome.

Proceedings of the National Academy of Sciences of the United States of America
Anna LappalaKarissa Y Sanbonmatsu
October 11, 2021
Open Access

X-Chromosome Inactivation and Autosomal Random Monoallelic Expression as "Faux Amis".

Frontiers in Cell and Developmental Biology
Vasco M BarretoAnne-Valerie Gendrel
October 10, 2021

Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome.

American Journal of Human Genetics
Eisa MahyariDonald F Conrad
October 8, 2021
Open Access

Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review.

Molecular Cytogenetics
Caroline MillerBin Zhang
October 7, 2021
Open Access

Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor

BioRxiv : the Preprint Server for Biology
M. A. AksitBarbara R Migeon
October 1, 2021
Open Access

interpolatedXY: a two-step strategy to normalise DNA methylation microarray data avoiding sex bias

BioRxiv : the Preprint Server for Biology
Y. WangLeonard C. Schalkwyk
October 1, 2021

Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection.

Journal of Clinical Immunology
Clément LemaigreJosé Miguel Torregrosa-Diaz
September 30, 2021
Open Access

Muscle group specific transcriptomic and DNA methylation differences related to developmental patterning in FSHD

BioRxiv : the Preprint Server for Biology
K. WilliamsAli Mortazavi

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