PRPF4 mutations cause autosomal dominant retinitis pigmentosa

Structural Basis of Brr2-Prp8 Interactions and Implications for U5 snRNP Biogenesis and the Spliceosome Active Site

(2013) Thi Hoang Duong Nguyen et al.   STRUCTURE

High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita

(2012) J. Carrillo et al.   BLOOD CELLS MOLECULES AND DISEASES

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

(2012) Seema Saini et al.   EXPERIMENTAL EYE RESEARCH

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

Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

(2011) Alessandro Galan et al.   CURRENT GENOMICS

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

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

(2011) Jun Yin et al.   Molecular Neurodegeneration

Temporal and Tissue Specific Regulation of RP-Associated Splicing Factor Genes PRPF3, PRPF31 and PRPC8—Implications in the Pathogenesis of RP

(2011) Huibi Cao et al.   PLoS One

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

(2010) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

(2010) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

The differential interaction of snRNPs with pre-mRNA reveals splicing kinetics in living cells

(2010) Martina Huranová et al.   JOURNAL OF CELL BIOLOGY

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

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

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

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH