Bibliography
Vithana, E. N., Abu-Safieh, L., Allen, M. J., Carey, A., Papaioannou, M., Chakarova, C., Al-Maghtheh, M., Ebenezer, N. D., Willis, C., Moore, A. T., Bird, A. C., Hunt, D. M., & Bhattacharya, S. S. (2001). A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11). Molecular Cell, 8(2), 375â381.
Authors
13
- Eranga N. Vithana (first)
- Leen Abu-Safieh (additional)
- Maxine J. Allen (additional)
- Alisoun Carey (additional)
- Myrto Papaioannou (additional)
- Christina Chakarova (additional)
- Mai Al-Maghtheh (additional)
- Neil D. Ebenezer (additional)
- Catherine Willis (additional)
- Anthony T. Moore (additional)
- Alan C. Bird (additional)
- David M. Hunt (additional)
- Shomi S. Bhattacharya (additional)
References
33
Referenced
233
10.1093/hmg/3.2.351
/ Hum. Mol. Genet. / Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19 by Al-Maghtheh (1994){'key': '10.1016/S1097-2765(01)00305-7_BIB2', 'first-page': '864', 'article-title': 'Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype', 'volume': '59', 'author': 'Al-Maghtheh', 'year': '1996', 'journal-title': 'Am. J. Hum. Genet.'}
/ Am. J. Hum. Genet. / Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype by Al-Maghtheh (1996)10.1086/301819
/ Am. J. Hum. Genet. / Segregation of a PRKCG mutation in two RP11 families by Al-Maghtheh (1998)10.1093/nar/28.1.263
/ Nucleic Acids Res. / The Pfam protein families database by Bateman (2000)10.1038/7678
/ Nat. Genet. / A mutation in NRL is associated with autosomal dominant retinitis pigmentosa by Bessant (1999)10.1093/nar/28.11.2214
/ Nucleic Acids Res. / Isolation of an essential Schizosaccharomyces pombe gene, prp31(+), that links splicing and meiosis by Bishop (2000)10.1146/annurev.bi.50.070181.002025
/ Annu. Rev. Biochem. / Organization and expression of eucaryotic split genes coding for proteins by Breathnach (1981)10.1002/j.1460-2075.1992.tb05457.x
/ EMBO J. / Roles of PRP8 protein in the assembly of splicing complexes by Brown (1992){'key': '10.1016/S1097-2765(01)00305-7_BIB9', 'series-title': 'The RNA World', 'article-title': 'Splicing of precursors to mRNAs by the spliceosomes', 'author': 'Burge', 'year': '1999'}
/ The RNA World / Splicing of precursors to mRNAs by the spliceosomes by Burge (1999){'key': '10.1016/S1097-2765(01)00305-7_BIB10', 'first-page': '2487', 'article-title': 'Sequence requirements for synthetic peptide-mediated translocation to the nucleus', 'volume': '9', 'author': 'Chelsky', 'year': '1989', 'journal-title': 'Mol. Cell. Biol.'}
/ Mol. Cell. Biol. / Sequence requirements for synthetic peptide-mediated translocation to the nucleus by Chelsky (1989)10.1056/NEJM199011083231903
/ N. Engl. J. Med. / Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa by Dryja (1990)10.1136/bjo.79.9.841
/ Br. J. Ophthalmol. / Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q by Evans (1995)10.1038/354478a0
/ Nature / A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa by Farrar (1991)10.1128/MCB.17.12.7088
/ Mol. Cell. Biol. / Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis by Gautier (1997)10.1021/bi00364a010
/ Biochemistry. / Protein complement of rod outer segments of frog retina by Hamm (1986)10.1038/ng0297-216
/ Nat. Genet. / Retinopathy induced in mice by targeted disruption of the rhodopsin gene by Humphries (1997)- Ioannou, P.A., and de Jong, P.J. (1996). Construction of bacterial artificial chromosome libraries using the modified P1 (PAC) system. In Current Protocols in Human Genetics, N.C. Dracopoli et al., eds. (New York: John Wiley and Sons).
10.1136/bjo.79.1.23
/ Br. J. Ophthalmol. / Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression by Kim (1995)10.1038/337454a0
/ Nature / Circadian rhythm and light regulate opsin mRNA in rod photoreceptors by Korenbrot (1989)10.1146/annurev.bi.65.070196.002055
/ Annu. Rev. Biochem. / The structure and function of proteins involved in mammalian pre-mRNA splicing by Kramer (1996)10.1073/pnas.96.2.736
/ Proc. Natl. Acad. Sci. USA / Morphological, physiological, and biochemical changes in rhodopsin knockout mice by Lem (1999)10.1086/301614
/ Am. J. Hum. Genet. / Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele by McGee (1997)10.1093/hmg/10.15.1555
/ Hum. Mol. Genet. / Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) by McKie (2001)10.1136/bjo.77.8.473
/ Br. J. Ophthalmol. / Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance by Moore (1993)10.1073/pnas.96.20.11167
/ Proc. Natl. Acad. Sci. USA / SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins by Pellizzoni (1999)10.1136/jmg.35.2.174-a
/ J. Med. Genet. / RP11 is the second most common locus for dominant retinitis pigmentosa by Vithana (1998){'key': '10.1016/S1097-2765(01)00305-7_BIB27', 'first-page': '2390', 'article-title': 'Physical map of the RP11 locus for autosomal dominant retinitis pigmentosa and investigation of a candidate gene', 'volume': '65', 'author': 'Vithana', 'year': '1999', 'journal-title': 'Am. J. Hum. Genet.'}
/ Am. J. Hum. Genet. / Physical map of the RP11 locus for autosomal dominant retinitis pigmentosa and investigation of a candidate gene by Vithana (1999)10.1016/S0169-328X(99)00209-0
/ Brain Res. Mol. Brain Res. / Circadian oscillation of photopigment transcript levels in the mouse retina by von Schantz (1999)10.1093/nar/24.6.1164
/ Nucleic Acids Res. / The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae by Weidenhammer (1996)10.1128/MCB.17.7.3580
/ Mol. Cell. Biol. / Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae by Weidenhammer (1997)10.1073/pnas.89.1.411
/ Proc. Natl. Acad. Sci. USA / Phosphoglucomutase 1 by Whitehouse (1992)10.1074/jbc.273.26.16453
/ J. Biol. Chem. / Nop5p is a small nucleolar ribonucleoprotein component required for pre-18S rRNA processing in yeast by Wu (1998)10.1136/jmg.32.11.915
/ J. Med. Genet. / Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family by Xu (1995)
Dates
Type | When |
---|---|
Created | 21 years, 4 months ago (April 21, 2004, 2:04 a.m.) |
Deposited | 2 years, 6 months ago (Feb. 13, 2023, 8:12 p.m.) |
Indexed | 16 hours, 24 minutes ago (Aug. 30, 2025, 1:16 p.m.) |
Issued | 24 years ago (Aug. 1, 2001) |
Published | 24 years ago (Aug. 1, 2001) |
Published Print | 24 years ago (Aug. 1, 2001) |
@article{Vithana_2001, title={A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)}, volume={8}, ISSN={1097-2765}, url={http://dx.doi.org/10.1016/s1097-2765(01)00305-7}, DOI={10.1016/s1097-2765(01)00305-7}, number={2}, journal={Molecular Cell}, publisher={Elsevier BV}, author={Vithana, Eranga N. and Abu-Safieh, Leen and Allen, Maxine J. and Carey, Alisoun and Papaioannou, Myrto and Chakarova, Christina and Al-Maghtheh, Mai and Ebenezer, Neil D. and Willis, Catherine and Moore, Anthony T. and Bird, Alan C. and Hunt, David M. and Bhattacharya, Shomi S.}, year={2001}, month=aug, pages={375–381} }