Variant haploinsufficiency and phenotypic non-penetrance inPRPF31-associated retinitis pigmentosa

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

(2016) Anna M. Rose et al.   Scientific Reports

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

(2015) Xiangyu Ma et al.   Scientific Reports

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

(2015) Yuan Liu et al.   Scientific Reports

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

(2014) Xue Chen et al.   HUMAN MOLECULAR GENETICS

Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

(2014) Bastian Linder et al.   PLoS One

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

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

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

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Obesity resistance and increased hepatic expression of catabolism-related mRNAs inCnot3+/−mice

(2011) Masahiro Morita et al.   EMBO JOURNAL

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

(2011) Sara J Bowne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23

(2011) Chitra Kannabiran et al.   HUMAN 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

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

(2009) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

(2009) James S. Friedman et al.   AMERICAN JOURNAL OF HUMAN 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 genome-wide RNAi screen identifies a new transcriptional module required for self-renewal

(2009) G. Hu et al.   GENES & DEVELOPMENT

Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa

(2008) John H. Fingert   ARCHIVES OF OPHTHALMOLOGY

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