(Q30453156)

17 August 2017

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome (English)

1 reference

17 August 2017

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Kunio Miyake

1

1 reference

17 August 2017

Chunshu Yang

2

1 reference

17 August 2017

Yohei Minakuchi

3

1 reference

17 August 2017

Kenta Ohori

4

1 reference

17 August 2017

Masaki Soutome

5

1 reference

17 August 2017

Takae Hirasawa

6

1 reference

17 August 2017

Yasuhiro Kazuki

7

1 reference

17 August 2017

Noboru Adachi

8

1 reference

17 August 2017

Seiko Suzuki

9

1 reference

17 August 2017

Masayuki Itoh

10

1 reference

17 August 2017

Yu-Ichi Goto

11

1 reference

17 August 2017

Tomoko Andoh

12

1 reference

17 August 2017

Hiroshi Kurosawa

13

1 reference

17 August 2017

Mitsuo Oshimura

14

1 reference

17 August 2017

Masayuki Sasaki

15

1 reference

17 August 2017

Atsushi Toyoda

16

1 reference

17 August 2017

Takeo Kubota

17

1 reference

17 August 2017

language of work or name

English

0 references

publication date

21 June 2013

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17 August 2017

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17 August 2017

8

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17 August 2017

6

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17 August 2017

e66729

1 reference

Creative Commons Attribution 4.0 International

17 August 2017

start time

21 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Genome-wide DNA methylation and gene expression analyses of monozygotic twins discordant for intelligence levels

20 June 2018

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Evidence that the methylation state of the monoamine oxidase A (MAOA) gene predicts brain activity of MAO A enzyme in healthy men.

20 June 2018

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Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins.

20 June 2018

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Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems

20 June 2018

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Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model.

20 June 2018

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Epigenetic discordance at imprinting control regions in twins

20 June 2018

1 reference

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Therapeutic implications for striatal-enriched protein tyrosine phosphatase (STEP) in neuropsychiatric disorders.

20 June 2018

1 reference

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Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Impact of the genome on the epigenome is manifested in DNA methylation patterns of imprinted regions in monozygotic and dizygotic twins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Regulation of NMDA receptors by the tyrosine kinase Fyn

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

De novo deletion in MECP2 in a monozygotic twin pair: a case report

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Besides Huntington's disease, does brain-type creatine kinase play a role in other forms of hearing impairment resulting from a common pathological cause?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Tobacco-smoking-related differential DNA methylation: 27K discovery and replication

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Rett syndrome: revised diagnostic criteria and nomenclature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

The atypical homeodomain transcription factor Mohawk controls tendon morphogenesis

20 June 2018

1 reference

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Conserved role of intragenic DNA methylation in regulating alternative promoters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

The Mohawk homeobox gene is a critical regulator of tendon 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=3689680

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

The Sequence Alignment/Map format and SAMtools

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Brain-type creatine kinase activates neuron-specific K+-Cl- co-transporter KCC2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

MeCP2 dysfunction in humans and 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=3689680

Epigenetic differences arise during the lifetime of monozygotic twins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Guidelines for reporting clinical features in cases with MECP2 mutations.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Parental origin of de novo MECP2 mutations in 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=3689680

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

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=3689680

Mouse A9 cells containing single human chromosomes for analysis of genomic imprinting

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Japanese monozygotic twins with 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=3689680

Methylation-specific PCR simplifies imprinting analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Rett syndrome in monozygotic twins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

Difference in early development of presumed monozygotic twins with 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=3689680

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

20 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

The value of twins in epigenetic epidemiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Droplet Digital™ PCR quantitation of HER2 expression in FFPE breast cancer samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Oxidative modification of creatine kinase BB in Alzheimer's disease brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Creatine kinase BB in brain in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Brain-type creatine kinase has a crucial role in osteoclast-mediated bone resorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0066729

Aberrant DNA methylation associated with bipolar disorder identified from discordant monozygotic twins

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689680

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

26 November 2018

1 reference

12 December 2020

DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

1 reference

12 December 2020

The incidence of Rett syndrome in France

1 reference

12 December 2020

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

1 reference

12 December 2020

X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin

1 reference

12 December 2020

A monozygotic twin pair with Rett syndrome

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0066729

Identifiers

DOI

1 reference

17 August 2017

0 references

1 reference

17 August 2017

PubMed publication ID

23805272

1 reference