Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

2018/11/07 by Jennifer A. Wambach, Jennifer Wambach, Daniel Wegner +17 · 25 citations
Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #RNA Research and Splicing #RNA regulation and disease

paper · pdf · doi:10.1016/j.ajhg.2018.10.010

Citations

• Basic local alignment search tool

Cited by

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• Hereditary Syndromes with Signs of Premature Aging. [europepmc]
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• Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. [europepmc]
• Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. [europepmc]
• Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. [europepmc]
• A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset. [europepmc]
• Structure of human RNA polymerase III. [europepmc]
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• POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination? [europepmc]
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• Mechanism of RNA polymerase III termination-associated reinitiation-recycling conferred by the essential function of the N terminal-and-linker domain of the C11 subunit. [europepmc]
• Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. [europepmc]
• RNA Polymerases I and III in development and disease. [europepmc]
• MAF1, a repressor of RNA polymerase III-dependent transcription, regulates bone mass. [europepmc]
• DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies. [europepmc]
• A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing. [europepmc]
• RNA polymerase III transcription and cancer: A tale of two RPC7 subunits. [europepmc]
• Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A. [europepmc]
• The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation. [europepmc]
• Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. [europepmc]
• Macrocephaly and Finger Changes: A Narrative Review. [europepmc]