Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor GenePRPF31(RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

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

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

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

(2012) Giulia Venturini et al.   PLoS Genetics

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

(2011) Goranka Tanackovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

(2011) Goranka Tanackovic et al.   HUMAN MOLECULAR GENETICS

Ordered and Dynamic Assembly of Single Spliceosomes

(2011) A. A. Hoskins et al.   SCIENCE

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

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

(2009) Chen Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

(2009) Thomas Rio Frio et al.   HUMAN MUTATION

PRPF31Alternative Splicing and Expression in Human Retina

(2009) Goranka Tanackovic et al.   OPHTHALMIC GENETICS

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

(2008) Jing Yu Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

(2008) Linda Köhn et al.   EUROPEAN JOURNAL OF HUMAN 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