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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
Barbeito P, Martin-Morales R, Palencia-Campos A, Cerrolaza J, Rivas-Santos C, Gallego-Colastra L, Caparros-Martin JA, Martin-Bravo C, Martin-Hurtado A, Sánchez-Bellver L, Marfany G, Ruiz-Perez VL, Garcia-Gonzalo FR. Barbeito P, et al. Among authors: ruiz perez vl. Front Cell Dev Biol. 2023 Jul 27;11:1190258. doi: 10.3389/fcell.2023.1190258. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37576597 Free PMC article.
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. Ross AJ, et al. Nat Genet. 1998 Dec;20(4):358-61. doi: 10.1038/3828. Nat Genet. 1998. PMID: 9843207
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A. Sakuntabhai A, et al. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Ruiz-Perez VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P, Vahlquist A, Gobello T, Mazzanti C, Reggazini R, Nagy G, Munro CS, Strachan T. Ruiz-Perez VL, et al. Hum Mol Genet. 1999 Sep;8(9):1621-30. doi: 10.1093/hmg/8.9.1621. Hum Mol Genet. 1999. PMID: 10441324
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T. Hagan DM, et al. Am J Hum Genet. 2000 May;66(5):1504-15. doi: 10.1086/302899. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10749657 Free PMC article.
66 results