BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
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Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionTranscribing RNA polymerase III observed by electron cryomicroscopyTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsThe genetics of cerebellar malformationsAbsence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationGenetic Drivers of Kidney Defects in the DiGeorge Syndrome.Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Comparative Methylome Analyses Identify Epigenetic Regulatory Loci of Human Brain Evolution.Gene expression elucidates functional impact of polygenic risk for schizophrenia.Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Minimal immune determinants connect Zika virus, human Cytomegalovirus, and Toxoplasma gondii to microcephaly-related human proteins.Genetics of Short Stature.De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.The Maize Imprinted Gene Floury3 Encodes a PLATZ Protein Required for tRNA and 5S rRNA Transcription through Interaction with RNA Polymerase III.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.Novel CASK mutations in cases with syndromic microcephaly.A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.Defective RNA polymerase III is negatively regulated by the SUMO-Ubiquitin-Cdc48 pathway
P2860
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P2860
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
BRF1 mutations alter RNA polym ...... neurodevelopmental anomalies.
@en
type
label
BRF1 mutations alter RNA polym ...... neurodevelopmental anomalies.
@en
prefLabel
BRF1 mutations alter RNA polym ...... neurodevelopmental anomalies.
@en
P2093
P2860
P50
P356
P1433
P1476
BRF1 mutations alter RNA polym ...... neurodevelopmental anomalies.
@en
P2093
Ana Medeira
Antonio Radicioni
Barbara Mandriani
Friederike Hög
Giuseppe Merla
Guntram Borck
Holger Thiele
Ian Blumenthal
Janine Altmüller
Larissa Wenzeck
P2860
P304
P356
10.1101/GR.176925.114
P50
P577
2015-01-05T00:00:00Z