X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome (Q33911020)

30 July 2017

title

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome (English)

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30 July 2017

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Huda Y Zoghbi

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author name string

Juan I Young

series ordinal

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30 July 2017

language of work or name

English

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publication date

17 February 2004

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American Journal of Human Genetics

30 July 2017

published in

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30 July 2017

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30 July 2017

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30 July 2017

page(s)

511-520

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Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain

30 July 2017

cites work

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5 July 2018

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5 July 2018

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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

5 July 2018

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5 July 2018

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The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome

5 July 2018

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Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

5 July 2018

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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

5 July 2018

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

5 July 2018

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Balanced X chromosome inactivation patterns in the Rett syndrome brain

29 October 2018

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29 October 2018

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29 October 2018

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29 October 2018

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The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome

29 October 2018

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Primary non-random X inactivation associated with disruption of Xist promoter regulation.

29 October 2018

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29 October 2018

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

29 October 2018

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

29 October 2018

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12 December 2020

Two affected boys in a Rett syndrome family: clinical and molecular findings

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12 December 2020

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

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12 December 2020

MeCP2 mutations in children with and without the phenotype of Rett syndrome

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12 December 2020

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

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12 December 2020

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

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12 December 2020

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation

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12 December 2020

Sexing of mouse preimplantation embryos by detection of Y chromosome-specific sequences using polymerase chain reaction

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12 December 2020

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

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12 December 2020

Controlling elements in the mouse X-chromosome. I. Interaction with the X-linked genes

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12 December 2020

X-chromosome activity in female mouse embryos heterozygous for Pgk-1 and Searle's translocation, T(X; 16) 16H

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12 December 2020

Primary non-random X-inactivation caused by controlling elements in the mouse demonstrated at the cellular level

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12 December 2020

Clinical delineation of Rett syndrome variants

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12 December 2020

Identifiers

DOI

10.1086/382228

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30 July 2017

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30 July 2017

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