Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

Panagiotis Douvaras; Weijia Liu; Richard L Mort; Lisa McKie; Katrine M West; Sally H Cross; Steven D Morley; John D West

doi:10.1186/1756-0500-5-122

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

Panagiotis Douvaras, Weijia Liu, Richard L Mort, Lisa McKie, Katrine M West, Sally H Cross, Steven D Morley, John D West

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.

Original language	English
Pages (from-to)	122
Journal	BMC Research Notes
Volume	5
DOIs	https://doi.org/10.1186/1756-0500-5-122
Publication status	Published - 2012

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10.1186/1756-0500-5-122

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases
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@article{2e50700409ee424a99fd4c15a8cd40b2,

title = "Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases",

abstract = "Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.",

author = "Panagiotis Douvaras and Weijia Liu and Mort, {Richard L} and Lisa McKie and West, {Katrine M} and Cross, {Sally H} and Morley, {Steven D} and West, {John D}",

note = "Douvaras P, Liu W, Mort RL, et al. Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases. BMC research notes 2012;5:122.",

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doi = "10.1186/1756-0500-5-122",

language = "English",

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T1 - Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

AU - Douvaras, Panagiotis

AU - Liu, Weijia

AU - Mort, Richard L

AU - McKie, Lisa

AU - West, Katrine M

AU - Cross, Sally H

AU - Morley, Steven D

AU - West, John D

N1 - Douvaras P, Liu W, Mort RL, et al. Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases. BMC research notes 2012;5:122.

PY - 2012

Y1 - 2012

N2 - Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.

AB - Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.

U2 - 10.1186/1756-0500-5-122

DO - 10.1186/1756-0500-5-122

M3 - Article

C2 - 22369496

SN - 1756-0500

VL - 5

SP - 122

JO - BMC Research Notes

JF - BMC Research Notes

ER -

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

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