Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
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A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Importance of Mediator complex in the regulation and integration of diverse signaling pathways in plantsCharcot-Marie-Tooth disease and intracellular trafficStructure of the VP16 transactivator target in the MediatorWwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25Disordered proteinaceous machinesMediator and human diseaseTranscriptional regulation and its misregulation in disease.The role of nuclear bodies in gene expression and disease.The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanInfantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.Mediator complex dependent regulation of cardiac development and disease.Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variabilityExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyRedefining the MED13L syndromeMolecular genetics of charcot-marie-tooth disease: from genes to genomes.Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative diseaseHomozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.MED23-associated intellectual disability in a non-consanguineous family.Minimotifs dysfunction is pervasive in neurodegenerative disorders
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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
description
article
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im Oktober 2009 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в жовтні 2009
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ലേഖനം
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name
Identification of the variant ...... levels in CMT1A animal models
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Identification of the variant ...... levels in CMT1A animal models
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type
label
Identification of the variant ...... levels in CMT1A animal models
@en
Identification of the variant ...... levels in CMT1A animal models
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prefLabel
Identification of the variant ...... levels in CMT1A animal models
@en
Identification of the variant ...... levels in CMT1A animal models
@nl
P2093
P2860
P50
P1433
P1476
Identification of the variant ...... levels in CMT1A animal models
@en
P2093
Bernhard Neundörfer
Corinna Berghoff
Dieter Heuss
Finn Bauer
Francesca Pasutto
Gerardo Del Valle
James R Lupski
Kathrin Huehne
Lisa Santolin
Martin Berghoff
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P2888
P304
P356
10.1007/S10048-009-0183-3
P407
P50
P577
2009-10-01T00:00:00Z
P5875
P6179
1048544368