Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome (Q30575472)

22 August 2017

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome (English)

1 reference

22 August 2017

0 references

11

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11 June 2020

Janine M. LaSalle

12

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11 June 2020

author name string

Dag H Yasui

1

1 reference

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11 June 2020

Michael L Gonzales

2

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11 June 2020

Justin O Aflatooni

3

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11 June 2020

Florence K Crary

4

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11 June 2020

Daniel J Hu

5

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11 June 2020

Bryant J Gavino

6

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11 June 2020

Mari S Golub

7

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11 June 2020

John B Vincent

8

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11 June 2020

N Carolyn Schanen

9

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11 June 2020

Carl O Olson

10

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11 June 2020

publication date

18 December 2013

1 reference

22 August 2017

Human Molecular Genetics

1 reference

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11 June 2020

volume

23

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11 June 2020

issue

9

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11 June 2020

page(s)

2447-2458

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Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Novel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes

20 June 2018

1 reference

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Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

20 June 2018

1 reference

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Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

20 June 2018

1 reference

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Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

20 June 2018

1 reference

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Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Identifying functional neighborhoods within the cell nucleus: proximity analysis of early S-phase replicating chromatin domains to sites of transcription, RNA polymerase II, HP1gamma, matrin 3 and SAF-A.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Spatio-temporal dynamics of replication and transcription sites in the mammalian cell nucleus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

The story of Rett syndrome: from clinic to neurobiology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Reversal of neurological defects in a mouse model of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

SATB1 targets chromatin remodelling to regulate genes over long distances

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

The nuclear matrix: a structural milieu for genomic function.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Nonrandom distribution of repeated DNA sequences with respect to supercoiled loops and the nuclear matrix

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976336

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT640

Deleterious mutations in exon 1 of MECP2 in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT640

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT640

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT640

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT640

Movement disorders in the Hfe knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT640

The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24352790

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352790%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352790%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

24352790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352790%20AND%20SRC:MED&resulttype=core&format=json