Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
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A methods review on use of nonsense suppression to study 3' end formation and other aspects of tRNA biogenesisHypomyelinating leukodystrophies: translational research progress and prospectsMutations in RARS cause hypomyelinationRNA polymerase structure, function, regulation, dynamics, fidelity, and roles in gene expressionAtaxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIPAbsence 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.Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathyHaploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouseTranscription 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.Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.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.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.RNA polymerase III subunit architecture and implications for open promoter complex formation.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Diffuse hypomyelination is not obligate for POLR3-related disorders.RNA Polymerase III Advances: Structural and tRNA Functional Views.More than hypomyelination in Pol-III disorder.Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencingSystematic review of autosomal recessive ataxias and proposal for a classification.Hypogonadism and neurological diseases.Advances in the diagnosis of leukoencephalopathies.Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Genetic Leukoencephalopathies in Adults.Epigenetic regulation of noncoding RNA transcription by mammalian RNA polymerase III.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association.Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.Assessment of myelination in hypomyelinating disorders by quantitative MRI.An Indian boy with a novel leukodystrophy: 4H syndrome.
P2860
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P2860
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին 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 of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@ast
Mutations of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@en
type
label
Mutations of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@ast
Mutations of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@en
prefLabel
Mutations of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@ast
Mutations of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@en
P2093
P2860
P50
P1476
Mutations of POLR3A encoding a ...... ypomyelinating leukodystrophy.
@en
P2093
André Megarbane
Diana Rodriguez
Eliane Chouery
Imen Dorboz
Isabelle Clément
Joelle Abou Ghoch
Maria Lisa Putorti
Martine Tétreault
Nadine Jalkh
Odile Boespflug-Tanguy
P2860
P304
P356
10.1016/J.AJHG.2011.07.014
P407
P50
P577
2011-09-01T00:00:00Z