4.7 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Analysis Tool Web Services from the EMBL-EBI

Hamish McWilliam et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Biochemistry & Molecular Biology

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

Anna M. Rose et al.

HUMAN MOLECULAR GENETICS (2012)

Editorial Material Multidisciplinary Sciences

Mendelian Puzzles

Aravinda Chakravarti et al.

SCIENCE (2012)

Article Genetics & Heredity

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

Giulia Venturini et al.

PLOS GENETICS (2012)

Article Ophthalmology

A 112 kb Deletion in Chromosome 19q13.42 Leads to Retinitis Pigmentosa

Anna M. Rose et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Article Biochemistry & Molecular Biology

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

Thomas Rio Frio et al.

HUMAN MOLECULAR GENETICS (2008)

Article Medicine, Research & Experimental

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

Thomas Rio Frio et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

Article Multidisciplinary Sciences

A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer et al.

NATURE (2007)

Article Biochemistry & Molecular Biology

STAMP: a web tool for exploring DNA-binding motif similarities

Shaun Mahony et al.

NUCLEIC ACIDS RESEARCH (2007)

Article Ophthalmology

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa

Naushin H. Waseem et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)

Article Biochemistry & Molecular Biology

The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP

Sunbin Liu et al.

Article Cell Biology

Structure and regulation of human troponin genes

ME Cullen et al.

MOLECULAR AND CELLULAR BIOCHEMISTRY (2004)

Article Biochemistry & Molecular Biology

Sequence analysis of the human kallikrein gene locus identifies a unique polymorphic minisatellite element

GM Yousef et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2001)