Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
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Genome-wide association study of Tourette's syndromeHypomyelinating leukodystrophies: translational research progress and prospectsMutations in RARS cause hypomyelinationRNA polymerase structure, function, regulation, dynamics, fidelity, and roles in gene expressionEndocrine 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.Haploinsufficiency 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.Association of brain immune genes with social behavior of inbred mouse strains.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.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.Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencingWhole exome sequencing in patients with white matter abnormalities.Hypogonadism and neurological diseases.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.Genetic Leukoencephalopathies in Adults.Epigenetic regulation of noncoding RNA transcription by mammalian RNA polymerase III.INMAP, a novel truncated version of POLR3B, represses AP-1 and p53 transcriptional activity.Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
P2860
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P2860
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
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
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@ast
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@en
type
label
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@ast
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@en
prefLabel
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@ast
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@en
P2093
P2860
P50
P1476
Recessive mutations in POLR3B, ...... ypomyelinating leukodystrophy.
@en
P2093
Karine Choquet
Martine Tétreault
Raphael Schiffmann
Simona Orcesi
P2860
P304
P356
10.1016/J.AJHG.2011.10.006
P407
P50
P577
2011-10-27T00:00:00Z