Rett syndrome: the complex nature of a monogenic disease. - Wikidata - awgldk - TriplyDB

Rett syndrome: the complex nature of a monogenic disease.

Rett syndrome: the complex nature of a monogenic disease.

http://www.wikidata.org/entity/Q35128931

about

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder NTNG1 mutations are a rare cause of Rett syndrome The case for well-conducted experiments to validate statistical protocols for 2D gels: different pre-processing = different lists of significant proteins Investigation of Rett syndrome using pluripotent stem cells DNA modifications: function and applications in normal and disease States Bone mineral content and density in Rett syndrome and their contributing factors.X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome Ocular MECP2 protein expression in patients with and without Rett syndrome.The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms GABA system dysfunction in autism and related disorders: from synapse to symptoms Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.DNA methylation in early development.Rett syndrome and MeCP2.Modelling Autistic Neurons with Induced Pluripotent Stem Cells.Is Rett syndrome a loss-of-imprinting disorder?Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.Rett Syndrome.p.R270X MECP2 mutation and mortality in Rett syndrome

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P2860

Rett syndrome: the complex nature of a monogenic disease.

http://www.wikidata.org/entity/Q35128931

description

2003 nî lūn-bûn

@nan

2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

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name

Rett syndrome: the complex nature of a monogenic disease.

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Rett syndrome: the complex nature of a monogenic disease.

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type

label

Rett syndrome: the complex nature of a monogenic disease.

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Rett syndrome: the complex nature of a monogenic disease.

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prefLabel

Rett syndrome: the complex nature of a monogenic disease.

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Rett syndrome: the complex nature of a monogenic disease.

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P356

S00109-003-0444-9

P1433

Journal of Molecular Medicine

P1476

Rett syndrome: the complex nature of a monogenic disease.

@en

P2093

Chiara Pescucci

http://www.w3.org/2001/XMLSchema#string

Franca Cambi

http://www.w3.org/2001/XMLSchema#string

Ilaria Longo

http://www.w3.org/2001/XMLSchema#string

Ilaria Meloni

http://www.w3.org/2001/XMLSchema#string

P2860

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

The Ski protein family is required for MeCP2-mediated transcriptional repression

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

Rett syndrome and MeCP2: linking epigenetics and neuronal function

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

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

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

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

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

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.

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s00109-003-0444-9

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346-354

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scholarly article

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10.1007/S00109-003-0444-9

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6

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81

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Alessandra Renieri

Francesca Ariani

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2003-05-16T00:00:00Z

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P698

12750821

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