Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
about
Genome-wide association study of Tourette's syndromeA methods review on use of nonsense suppression to study 3' end formation and other aspects of tRNA biogenesisEndocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the LiteratureAbsence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationRecessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.The role of nuclear bodies in gene expression and disease.A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.Transcription termination by the eukaryotic RNA polymerase III.Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.Genome-wide association study identifies multiple susceptibility loci for gliomaRNA polymerase III subunit architecture and implications for open promoter complex formation.Diffuse hypomyelination is not obligate for POLR3-related disorders.RNA Polymerase III Advances: Structural and tRNA Functional Views.Next generation sequencing for neurological diseases: new hope or new hype?More than hypomyelination in Pol-III disorder.Long non-coding RNAs: novel targets for nervous system disease diagnosis and therapy.Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA.Advances in the diagnosis of leukoencephalopathies.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next-generation sequencing applied to rare diseases genomics.Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Epigenetic regulation of noncoding RNA transcription by mammalian RNA polymerase III.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Insight into the molecular genetics of myopia.Genome-wide association studies in glioma.Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
P2860
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P2860
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
description
2011 nî lūn-bûn
@nan
2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@ast
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@en
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@nl
type
label
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@ast
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@en
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@nl
prefLabel
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@ast
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@en
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@nl
P2093
P2860
P1476
Mutations in POLR3A and POLR3B ...... yelinating leukoencephalopathy
@en
P2093
Akio Yamashita
Hidehiro Shibayama
Hiroshi Doi
Hitoshi Osaka
Jun-Ichi Takanashi
Kazuhiro Ogata
Keisuke Hamada
Kiyomi Nishiyama
Masaaki Shiina
P2860
P304
P356
10.1016/J.AJHG.2011.10.003
P407
P577
2011-10-27T00:00:00Z