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POLR3B encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. De plus, nous expédions Polymerase (RNA) III (DNA Directed) Polypeptide B Anticorps (50) et et beaucoup plus de produits pour cette protéine.
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Novel compound heterozygous variations in POLR3B were identified in a patient with cerebellar hypoplasia with endosteal sclerosis.
The spectrum of phenotypes resulting from POLR3B mutations is wider than previously believed.
Findings suggest that AP-1 factors are regulators of RNA polymerase III (Pol III)-driven 5S rRNA and U6 snRNA expression with a potential role in cell proliferation.
Multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A (Montrer POLR3A Protéines) and POLR3B without the classic MRI (Montrer C7ORF49 Protéines) phenotype: diffuse hypomyelination is not an obligatory feature of POLR3-related disorders; two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI (Montrer C7ORF49 Protéines) presentation of POLR3-related disorders
first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A (Montrer POLR3A Protéines) or POLR3B should be investigated in patients with a compatible phenotype
Mutations in POLR3A (Montrer POLR3A Protéines) or POLR3B are rare in patients with unclassified hypomyelination.
INMAP as a model regulator of CENP-B (Montrer CENPB Protéines)
These results suggest that INMAP might function through p53 (Montrer TP53 Protéines)/p21 (Montrer CDKN1A Protéines) pathways.
Most patients with 4H leukodystrophy carried the common c.1568T>A POLR3B mutation on one allele.
MRI (Montrer C7ORF49 Protéines) in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A (Montrer POLR3A Protéines) mutations. MRI (Montrer C7ORF49 Protéines) also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A (Montrer POLR3A Protéines) mutations
The Polr3b in the hippocampus in the prefrontal cortex of the DBA (Montrer RPS19 Protéines)/2 J strain were up-regulated.
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
DNA-directed RNA polymerase III subunit RPC2
, DNA-directed RNA polymerase III 127.6 kDa polypeptide
, DNA-directed RNA polymerase III subunit B
, RNA polymerase III subunit C2
, DNA-directed RNA polymerase III B
, RNA polymerase III subunit RPC2 homolog