(Q34955419)

5 August 2017

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation (English)

1 reference

5 August 2017

1 reference

0 references

James Ellis

8

0 references

Akitsu Hotta

object named as

Akitsu Hotta

6

0 references

author name string

Aaron Y L Cheung

1

1 reference

5 August 2017

Lindsay M Horvath

2

1 reference

5 August 2017

Daria Grafodatskaya

3

1 reference

5 August 2017

Peter Pasceri

4

1 reference

5 August 2017

Rosanna Weksberg

5

1 reference

5 August 2017

Laura Carrel

7

1 reference

5 August 2017

3 March 2011

1 reference

5 August 2017

Human Molecular Genetics

1 reference

5 August 2017

20

1 reference

5 August 2017

2103-2115

1 reference

5 August 2017

11

1 reference

Modelling the long QT syndrome with induced pluripotent stem cells

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

A human iPSC model of Hutchinson Gilford Progeria reveals vascular smooth muscle and mesenchymal stem cell defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Female human iPSCs retain an inactive X chromosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Patient-specific induced pluripotent stem-cell models for long-QT syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Coordination of sonic hedgehog and Wnt signaling determines ventral and dorsal telencephalic neuron types from human embryonic stem cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Induced pluripotent stem cells from a spinal muscular atrophy patient

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Small deletion variants have stable breakpoints commonly associated with alu elements.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Disease-specific induced pluripotent stem cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

MeCP2, a key contributor to neurological disease, activates and represses transcription

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Directly reprogrammed fibroblasts show global epigenetic remodeling and widespread tissue contribution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Marked differences in differentiation propensity among human embryonic stem cell lines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Rett syndrome: North American database

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Reprogramming of human somatic cells to pluripotency with defined factors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Induced pluripotent stem cell lines derived from human somatic cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

The story of Rett syndrome: from clinic to neurobiology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Functional neural development from human embryonic stem cells: accelerated synaptic activity via astrocyte coculture.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

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.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Human genomic deletions mediated by recombination between Alu elements.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Role of histone H3 lysine 27 methylation in X inactivation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Functional consequences of Rett syndrome mutations on human MeCP2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090191

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR093

Balanced X chromosome inactivation patterns in the Rett syndrome brain.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR093

EOS lentiviral vector selection system for human induced pluripotent stem cells.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR093

Neuropathology of Rett syndrome

21 January 2018

1 reference

12 December 2020

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

1 reference

12 December 2020

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

1 reference

12 December 2020

Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome

1 reference

12 December 2020

Xist-deficient mice are defective in dosage compensation but not spermatogenesis

1 reference

12 December 2020

Large genomic rearrangements in MECP2

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR093

1 reference

5 August 2017

1 reference

5 August 2017

1 reference