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

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

(2011) Masahiro Morita et al.   EMBO JOURNAL

The Ccr4–Not complex

(2011) Martine A. Collart et al.   GENE

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

The Ccr4-Not Complex Interacts with the mRNA Export Machinery

(2011) Shana C. Kerr et al.   PLoS One

Human Ccr4–Not complexes contain variable deadenylase subunits

(2009) Nga-Chi Lau et al.   BIOCHEMICAL JOURNAL

Incomplete penetrance and variable expressivity: is there a microRNA connection?

(2009) Jasmine K. Ahluwalia et al.   BIOESSAYS

A genome-wide RNAi screen identifies a new transcriptional module required for self-renewal

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

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

(2009) Thomas Rio Frio et al.   HUMAN MUTATION

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