Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

No abstract is available for this paper.

• Publication year

  2006

• Venue

  European Journal of Human Genetics

• Publication date

  2006-07-05

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/sj.ejhg.5201682PMID 16823396
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Predictive value of the early clinical signs in Rett disorder.

  2005cited by this paper
• Twin study of genetic and aging effects on X chromosome inactivation

  2005cited by this paper
• Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

  2005cited by this paper
• Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

  2005cited by this paper
• X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

  2004cited by this paper
• Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype

  2003cited by this paper
• Clinical manifestations and stages of Rett syndrome.

  2002cited by this paper
• Balanced X chromosome inactivation patterns in the Rett syndrome brain.

  2002cited by this paper
• Spectrum of MECP2 Mutations in Rett Syndrome

  2002cited by this paper
• Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation

  2002cited by this paper
• MeCP2 mutations in children with and without the phenotype of Rett syndrome

  2001cited by this paper
• MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features

  2001cited by this paper
• MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

  2001cited by this paper
• MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

  2001cited by this paper
• Parental origin of de novo MECP2 mutations in Rett syndrome

  2001cited by this paper
• Spectrum of MECP2 mutations in Rett syndrome.

  2001cited by this paper
• Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the disease

  2001cited by this paper
• Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

  2000cited by this paper
• Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

  2000cited by this paper
• Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

  1999cited by this paper
• Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

  1999cited by this paper
• X chromosome-inactivation patterns in patients with Rett syndrome

  1998cited by this paper
• X chromosome inactivation in carriers of Barth syndrome.

  1998cited by this paper
• Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation.

  1998cited by this paper
• Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

  1998cited by this paper
• X inactivation in females with X-linked disease.

  1998cited by this paper
• A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

  1997cited by this paper
• Heritability of X chromosome--inactivation phenotype in a large family.

  1996cited by this paper
• Genetic control of X inactivation and processes leading to X-inactivation skewing.

  1996cited by this paper
• Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

  1996cited by this paper
• X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe

  1996cited by this paper
• Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.

  1994cited by this paper
• Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

  1994cited by this paper
• Patterns of X chromosome inactivation in the Rett syndrome.

  1990cited by this paper
• Carrier detection in the Wiskott Aldrich syndrome.

  1988cited by this paper
• Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

  1970cited by this paper

• From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies

  2025cites this paper
• Siblings with Rett Syndrome: A Fatal Male Case and an Asymptomatic Female Carrier

  2025cites this paper
• Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice

  2025cites this paper
• Zebrafish in understanding molecular pathophysiology, disease modeling, and developing effective treatments for Rett syndrome

  2024cites this paper
• Rett syndrome in Ireland: a demographic study

  2023cites this paper
• Population variability in X-chromosome inactivation across 9 mammalian species

  2023cites this paper
• Taking after a parent: Phenotypic resemblance and the professional familialisation of genomics.

  2023cites this paper
• MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid

  2023cites this paper
• Random allelic expression in the adult human body

  2023cites this paper
• Health care providers should have higher suspicion for rare diseases

  2022cites this paper
• MeCP2 and transcriptional control of eukaryotic gene expression.

  2022cites this paper
• Gene Editing and Rett Syndrome: Does It Make the Cut?

  2022cites this paper
• Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

  2022influential citation
• Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

  2021influential citation
• Cell-type and fetal-sex-specific targets of prenatal alcohol exposure in developing mouse cerebral cortex

  2021cites this paper
• Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model

  2021cites this paper
• Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome

  2021cites this paper
• Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations AUTHORS

  2021cites this paper
• Altered Bone Status in Rett Syndrome

  2021cites this paper
• Wide phenotypic spectrum of human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

  2020cites this paper
• Characterizing a Novel Mutation in MECP2 using an hiPSC Model of Rett Syndrome

  2020cites this paper
• Sex differences in Mecp2-mutant Rett syndrome model mice and the impact of cellular mosaicism in phenotype development.

  2020cites this paper
• Epilepsy and genetic in Rett syndrome: A review

  2019cites this paper
• Treating Rett syndrome: from mouse models to human therapies

  2019cites this paper
• Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

  2019cites this paper
• Choline Rescues Behavioural Deficits in a Mouse Model of Rett Syndrome by Modulating Neuronal Plasticity

  2018cites this paper
• Epigenetic and Cellular Diversity in the Brain through Allele-Specific Effects.

  2018cites this paper
• Rett syndrome: a neurological disorder with metabolic components

  2018cites this paper
• Tsix–Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function

  2018cites this paper
• A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.

  2017cites this paper
• Skewed X-chromosome inactivation and XIST locus methylation levels do not contribute to the lower prevalence of Parkinson's disease in females.

  2017cites this paper
• X chromosome abnormal inactivation: a unique factor for women's diseases?

  2016cites this paper
• The Relationship betweenSkewed X-chromosome Inactivation and Neurological Disorders Development: A Review

  2016cites this paper
• X inactivation and reactivation in X-linked diseases.

  2016cites this paper
• Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues

  2015cites this paper
• Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.

  2014cites this paper
• Identification of novel therapeutic targets and evaluation of pharmacological treatments in epigenetic and chromatin diseases- the case of Rett syndrome

  2014cites this paper
• X Chromosome Skewness in Neurological Disorders

  2014cites this paper
• Recurrent CNVs in the Etiology of Epigenetic Neurodevelopmental Disorders

  2013cites this paper
• Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome

  2013cites this paper
• Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.

  2013cites this paper
• Epigenetics and Complex Traits

  2013cites this paper
• Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

  2013cites this paper
• Epigenetic mechanisms of gene expression regulation in neurological diseases.

  2013cites this paper
• Chapter 9 Rett Syndrome

  2013cites this paper
• Rett Syndrome

  2013cites this paper
• Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.

  2012cites this paper
• MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

  2011cites this paper
• Unravelling X-Inactivation through Time: Implications of X-Linked Disorders in Humans

  2011cites this paper
• DXA measurements in rett syndrome reveal small bones with low bone mass

  2011cites this paper
• Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders

  2011cites this paper
• Role of polymorphism of the androgen receptor gene and non-random X chromosome inactivation in the genesis of androgenic alopecia in women of childbearing potential

  2011cites this paper
• X Chromosome Inactivation and Autoimmunity

  2010cites this paper
• Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

  2010cites this paper
• Clinical and genetic characterization of manifesting carriers of DMD mutations.

  2010cites this paper
• X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

  2008cites this paper
• Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

  2008cites this paper
• A skewed view of X chromosome inactivation.

  2008cites this paper
• MECP2 promoter methylation and X chromosome inactivation in autism

  2008cites this paper
• X‐linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families

  2008cites this paper
• Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

  2006cites this paper