Sort   by:  
 Page size 
ProteomicsRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here, we report eight of these cases carrying recessive mutat...
ORGANISM(S): Homo sapiens (Human) 
2019-10-16 | PXD002154 | Pride
Leukodystrophy Human Rna polymerase iii Polr1c 
GenomicsHomo sapiens
ChIP-Seq POLR1C
PRJNA282999 | ENA
UnknownClinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Not available
S-EPMC6927361 | biostudies-literature
UnknownNovel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Not available
S-EPMC6732337 | biostudies-literature
GenomicsMus musculus
Effects of POLR1C knockout on transcriptome of MC3T3 cells
PRJNA673969 | ENA
UnknownRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Not available
S-EPMC4506509 | biostudies-literature
UnknownThe Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
Not available
S-EPMC4957770 | biostudies-literature
UnknownEndocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Not available
S-EPMC7823228 | biostudies-literature
UnknownCraniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>.
Not available
S-EPMC10579516 | biostudies-literature
UnknownNext-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease.
Not available
S-EPMC9171136 | biostudies-literature
Sort   by:  
 Page size