Dissection of epistasis in oligogenic Bardet–Biedl syndrome

Autor: Stephen J. Ansley, Richard A. Lewis, Jose L. Badano, Helen May-Simera, Philip L. Beales, Nicholas Katsanis, Harry C. Dietz, Shaneka S. Lawson, Shannon Fisher, Carmen C. Leitch

Publikováno v: Nature. 439:326-330

Epistasis, a phenomenon in which one gene influences the expression of a second gene at a different locus, is a major source of genetic variation, but the mechanisms involved have not been analysed in detail. Now Badano et al. have succeeded in demon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ec40293ffec25674b6774d794d1fa7
https://doi.org/10.1038/nature04370

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Autor: Philip L. Beales, Nicholas Katsanis, Oliver E. Blacque, Richard A. Lewis, Alison Ross, Stephen J. Ansley, Bethan E. Hoskins, John C. Cavender, Michel R. Leroux, Tanya M. Teslovich, Jose L. Badano, Erica R. Eichers, Allan K. Mah, Robert C. Johnsen, Jun Chul Kim, Carmen C. Leitch, Josephine Hill

Publikováno v: Nature. 425:628-633

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db1b9e9a0413bdfdc6e7ea2a8b7dce6
https://doi.org/10.1038/nature02030

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Autor: Keith A. Boroevich, David L. Baillie, William S. Davidson, Susan J Moore, Jane Green, Mieke M. van Haelst, Patrick S. Parfrey, Jose L. Badano, Richard A. Lewis, Michel R. Leroux, Helen May-Simera, Philip L. Beales, Nicholas Katsanis, Alison Ross, Stephen J. Ansley, Deanna S Compton, Muneer A. Esmail, Yanli Fan, Oliver E. Blacque

Publikováno v: Nature Genetics, 36(9), 989-93. Nature Publishing Group
Fan, Y, Esmail, M A, Ansley, S J, Blacque, O E, Boroevich, K, Ross, A J, Moore, S J, Badano, J L, May-Simera, H, Compton, D S, Green, J S, Lewis, R A, van Haelst, M M, Parfrey, P S, Baillie, D L, Beales, P L, Katsanis, N, Davidson, W S & Leroux, M R 2004, ' Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome ', Nature Genetics, vol. 36, no. 9, pp. 989-93 . https://doi.org/10.1038/ng1414

RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the approximately 50 known mem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1801b022c23bb03cf2da3417fe2e751
https://research.vumc.nl/en/publications/1b1bced2-4772-481e-bcd6-72b46b664bc3

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

Autor: James R. Lupski, Erica R. Eichers, Richard A. Lewis, Bethan E. Hoskins, Philip L. Beales, Nicholas Katsanis, Peter J. Scambler, Hülya Kayserili, Stephen J. Ansley

Publikováno v: American journal of human genetics. 71(1)

Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c4d3d1bf80743207939b728644435a
https://pubmed.ncbi.nlm.nih.gov/12016587

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

Autor: Nursel Elcioglu, Michael O. Woods, Patrick S. Parfrey, James R. Lupski, Richard A. Lewis, William S. Davidson, Stephen J. Ansley, Jamal Raza, Jane Green, Philip L. Beales, Nicholas Katsanis

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical heterogeneity of this condition have substantially hindered

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34dc2357bc03271f31748901a3bcd519
https://europepmc.org/articles/PMC1274474/