Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

DominantPRPF31Mutations Are Hypostatic to a RecessiveCNOT3Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “LinkedTrans-Acting Epistasis”

(2013) Anna M. Rose et al.   ANNALS OF HUMAN GENETICS

Analysis Tool Web Services from the EMBL-EBI

(2013) Hamish McWilliam et al.   NUCLEIC ACIDS RESEARCH

Expression of PRPF31 and TFPT: regulation in health and retinal disease

(2012) Anna M. Rose et al.   HUMAN MOLECULAR GENETICS

Mendelian Puzzles

(2012) A. Chakravarti et al.   SCIENCE

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

(2012) Giulia Venturini et al.   PLoS Genetics

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

(2010) Isabelle Audo et al.   BMC Medical Genetics

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

(2008) Thomas Rio Frio et al.   HUMAN MOLECULAR GENETICS

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

(2008) Thomas Rio Frio et al.   JOURNAL OF CLINICAL INVESTIGATION