(Q34611497)

3 August 2017

title

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing (English)

1 reference

3 August 2017

0 references

1 reference

Simone Furini

7

0 references

Silvia Leoncini

Silvia Leoncini

10

0 references

Ilaria Meloni

Ilaria Meloni

15

0 references

Joussef Hayek

Joussef Hayek

14

0 references

Claudio De Felice

Claudio De Felice

8

0 references

Francesca Ariani

Francesca Ariani

16

0 references

Alessandra Renieri

Alessandra Renieri

18

0 references

Francesca Mari

Francesca Mari

17

0 references

Alessandra Pecorelli

11

Alessandra Pecorelli

1 reference

3 August 2017

9

Cinzia Signorini

1 reference

3 August 2017

Elisa Grillo

1

1 reference

3 August 2017

Caterina Lo Rizzo

2

1 reference

3 August 2017

Laura Bianciardi

3

1 reference

3 August 2017

Veronica Bizzarri

4

1 reference

3 August 2017

Margherita Baldassarri

5

1 reference

3 August 2017

Ottavia Spiga

6

1 reference

3 August 2017

Lucia Ciccoli

12

1 reference

3 August 2017

Maria Antonietta Mencarelli

13

1 reference

3 August 2017

language of work or name

English

0 references

publication date

28 February 2013

1 reference

3 August 2017

1 reference

3 August 2017

volume

8

1 reference

3 August 2017

issue

2

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3 August 2017

page(s)

e56599

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

28 February 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

The role of oxidative stress in Rett syndrome: an overview.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Hepatic Sirt1 deficiency in mice impairs mTorc2/Akt signaling and results in hyperglycemia, oxidative damage, and insulin resistance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Investigation of modifier genes within copy number variations in Rett syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

A circadian rhythm orchestrated by histone deacetylase 3 controls hepatic lipid metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Rett syndrome: revised diagnostic criteria and nomenclature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Correction of respiratory disorders in a mouse model of Rett syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Global gene expression analysis reveals differences in cellular responses to hydroxyl- and superoxide anion radical-induced oxidative stress in caco-2 cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Transcriptional responses to oxidative stress: pathological and toxicological implications

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Liver-specific deletion of histone deacetylase 3 disrupts metabolic transcriptional networks

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Genome-wide analyses of human perisylvian cerebral cortical patterning.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

High-throughput functional genomics identifies genes that ameliorate toxicity due to oxidative stress in neuronal HT-22 cells: GFPT2 protects cells against peroxide

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Astrocytes express functional chemokine receptors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

The Rett girls with preserved speech

7 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

7 July 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0056599

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0056599

Oxidative stress in Rett syndrome: natural history, genotype, and variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0056599

Systemic oxidative stress in classic Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0056599

Increased levels of 4HNE-protein plasma adducts in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0056599

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0056599

Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585308

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23468869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

F4-neuroprostanes mediate neurological severity in Rett syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23468869

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0056599

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference