Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2. (Q45868432)

17 December 2017

title

Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2. (English)

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17 December 2017

author name string

Nisa K E Renault

1

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17 December 2017

Marc P Renault

2

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17 December 2017

Emily Copeland

3

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17 December 2017

Robin E Howell

4

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17 December 2017

Wenda L Greer

5

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17 December 2017

publication date

17 March 2011

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17 December 2017

Journal of Human Genetics

published in

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17 December 2017

volume

56

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17 December 2017

issue

5

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17 December 2017

page(s)

390-397

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17 December 2017

https://scigraph.springernature.com/pub.10.1038/jhg.2011.25

exact match

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cites work

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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

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Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

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An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

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Hematopoiesis is not clonal in healthy elderly women.

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Further evidence for BRCA1 communication with the inactive X chromosome.

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Autosomal dominant mutations affecting X inactivation choice in the mouse.

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No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

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Identification and characterization of SA/Scc3p subunits in the Xenopus and human cohesin complexes

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The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

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Cohesinopathy mutations disrupt the subnuclear organization of chromatin

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Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage

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SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint

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CTCF, a candidate trans-acting factor for X-inactivation choice

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Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch.

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Tsix-mediated epigenetic switch of a CTCF-flanked region of the Xist promoter determines the Xist transcription program

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Cohesins functionally associate with CTCF on mammalian chromosome arms

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A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

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Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation.

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Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

21 January 2018

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RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation

21 January 2018

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LYONISATION OF THE X CHROMOSOME

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.25

7 January 2021

Enhanced specific-locus mutation response of 101/H male mice to single, acute X-irradiation

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https://api.crossref.org/works/10.1038%2FJHG.2011.25

7 January 2021

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

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https://api.crossref.org/works/10.1038%2FJHG.2011.25

7 January 2021

Controlling elements in the mouse X-chromosome. II. Location in the linkage map

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7 January 2021

Mapping the murine Xce locus with (CA)n repeats

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https://api.crossref.org/works/10.1038%2FJHG.2011.25

7 January 2021

Identifiers

DOI

10.1038/JHG.2011.25

1 reference

17 December 2017

Dimensions Publication ID

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1 reference

17 December 2017