Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes (Q28025533)

2

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Chris T. Evelo

5

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Leopold M G Curfs

6

object named as

Leopold M G Curfs

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Elisa Cirillo

3

object named as

Elisa Cirillo

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Eric E Smeets

Orphanet Journal of Rare Diseases

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object named as

Eric Smeets

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language of work or name

English

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publication date

25 November 2016

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11 March 2019

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25 April 2019

11 December 2019

19 December 2019

20 December 2019

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published in

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11 March 2019

13 March 2019

22 April 2019

25 April 2019

11 December 2019

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20 December 2019

11

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page(s)

158

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issue

1

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copyright license

Creative Commons Attribution 4.0 International

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28 January 2019

11 March 2019

13 March 2019

22 April 2019

25 April 2019

11 December 2019

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on focus list of Wikimedia project

20 December 2019

copyright status

copyrighted

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ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s13023-016-0545-5

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cites work

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Rett Syndrome: Crossing the Threshold to Clinical Translation

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Vascular dysfunction in a mouse model of Rett syndrome and effects of curcumin treatment

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Rett syndrome: revised diagnostic criteria and nomenclature

20 March 2017

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

20 March 2017

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DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency

20 March 2017

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Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals

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

20 March 2017

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Epigenetic reprogramming in mammalian development

20 March 2017

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Dendritic anomalies in disorders associated with mental retardation

20 March 2017

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Ube3a/E6AP is involved in a subset of MeCP2 functions

20 March 2017

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Mechanisms of disease: neurogenetics of MeCP2 deficiency

20 March 2017

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Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

20 March 2017

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Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

20 March 2017

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MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively

20 March 2017

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Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

20 March 2017

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Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

20 March 2017

1 reference

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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

20 March 2017

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Alternative polyadenylation of MeCP2: Influence of cis-acting elements and trans-acting factors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MeCP2-dependent repression of an imprinted miR-184 released by depolarization

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MicroRNA in schizophrenia: genetic and expression analysis of miR-130b (22q11)

20 March 2017

1 reference

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Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome

20 March 2017

1 reference

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The transcriptional repressor Mecp2 regulates terminal neuronal differentiation

20 March 2017

1 reference

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

20 March 2017

1 reference

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Model of autism: increased ratio of excitation/inhibition in key neural systems

20 March 2017

1 reference

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

7 April 2017

1 reference

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Reversal of neurological defects in a mouse model of Rett syndrome

7 April 2017

1 reference

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Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Rett syndrome: a complex disorder with simple roots

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

5-Hydroxymethylcytosine and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

DNA methylation reader MECP2: cell type- and differentiation stage-specific protein distribution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Twenty years of surveillance in Rett syndrome: what does this tell us?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

29 September 2017

Rett syndrome and MeCP2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MeCP2 is required for activity-dependent refinement of olfactory circuits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MicroRNA-mediated epigenetic silencing of sirtuin1 contributes to impaired angiogenic responses

29 September 2017

1 reference

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Neurosteroid and neurotransmitter alterations in Parkinson's disease

29 September 2017

1 reference

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Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Activity-dependent neuronal signalling and autism spectrum disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

5-hmC-mediated epigenetic dynamics during postnatal neurodevelopment and aging

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Differential regulation of MeCP2 phosphorylation in the CNS by dopamine and serotonin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

The role of MeCP2 in the brain.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

A role for glia in the progression of Rett's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Experience-dependent retinogeniculate synapse remodeling is abnormal in MeCP2-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Synaptic signaling and aberrant RNA splicing in autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MeCP2: structure and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Ocular MECP2 protein expression in patients with and without Rett syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Ischemic preconditioning regulates expression of microRNAs and a predicted target, MeCP2, in mouse cortex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

The yin and yang of MeCP2 phosphorylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MeCP2 involvement in the regulation of neuronal alpha-tubulin production

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MECP2 genomic structure and function: insights from ENCODE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

DLX5 expression is monoallelic and Dlx5 is up-regulated in the Mecp2-null frontal cortex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Intrinsic disorder and autonomous domain function in the multifunctional nuclear protein, MeCP2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Gadd45a promotes epigenetic gene activation by repair-mediated DNA demethylation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Rett syndrome in Australia: a review of the epidemiology.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Identification of cis-regulatory elements for MECP2 expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Methyl-CpG binding proteins in the nervous system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Mice lacking methyl-CpG binding protein 1 have deficits in adult neurogenesis and hippocampal function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Expression of various genes is controlled by DNA methylation during mammalian development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Neuroimaging studies in Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Postmortem brain abnormalities of the glutamate neurotransmitter system in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Growth and nutrition in Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

On a unusual brain atrophy syndrome in hyperammonemia in childhood

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

MeCP2 regulates activity-dependent transcriptional responses in olfactory sensory neurons

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Identification of TET1 Partners That Control Its DNA-Demethylating Function.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Chronic intermittent ethanol exposure and its removal induce a different miRNA expression pattern in primary cortical neuronal cultures

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Rett syndrome: biogenic amines and metabolites in postmortem brain

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

Membrane cerebral lipids in Rett syndrome.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5123333

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study.

2 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

MeCP2-dependent transcriptional repression regulates excitatory neurotransmission.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Increased dendritic complexity and axonal length in cultured mouse cortical neurons overexpressing methyl-CpG-binding protein MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Synaptic specificity is generated by the synaptic guidepost protein SYG-2 and its receptor, SYG-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Feeding Experiences and Growth Status in a Rett Syndrome Population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0545-5

Two affected boys in a Rett syndrome family: clinical and molecular findings

21 January 2018

1 reference

12 December 2020

Visual function in Rett syndrome.

1 reference

12 December 2020

Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study

1 reference

12 December 2020

Rett Syndrome as a Rare Disease: A European Perspective

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