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ProteomicsDe novo heterozygous variants in POLR2A cause a neurodevelopmental syndrome with infantile-onset hypotonia
  ABSTRACT POLR2A encodes RPB1, the largest subunit of the RNA polymerase II (pol II) complex, which is responsible for transcription of all ~21,000 protein-encoding genes. Here we describe the first fifteen patients harboring de novo heterozygous variants in POLR2A. The majority presents with profo...
ORGANISM(S): Homo sapiens (Human) 
2019-09-02 | PXD011355 | Pride
Rpb1 De novo heterozygous variants Polr2a Rna polymerase ii 
GenomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC5 variants.
Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC5 variants.
PRJNA1312427 | ENA
GenomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMD11 variants
Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMD11 variants
PRJNA1094860 | ENA
GenomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.
Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.
PRJNA950994 | ENA
UnknownDe Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Not available
S-EPMC6699192 | biostudies-literature
ProteomicsDe novo heterozygous variants in EHMT2 cause a novel Kleefstra related syndrome via loss of G9a methyltransferase activity
EHMT1 and EHMT2 genes encode human euchromatin histone lysine methyltransferase 1 and 2 (EHMT1 alias GLP; EHMT2 alias G9a) that form heteromeric GLP/G9a complexes with essential roles in epigenetic regulation of gene expression. While EHMT1 haploinsufficiency has been established as the cause of Kle...
ORGANISM(S): Homo sapiens (Human) 
2026-07-03 | PXD076523 | Pride
Ehmt2 Kleefstra syndrome 1 G9a proteins Ehmt1 
GenomicsExome insight of de novo variant in a Chinese sporadic NSHL
Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss
PRJEB41467 | ENA
UnknownDe novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Not available
S-EPMC7820722 | biostudies-literature
UnknownDe novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Not available
S-EPMC11324310 | biostudies-literature
UnknownDe novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
Not available
S-EPMC9484203 | biostudies-literature
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