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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. Gorden NT, et al. Among authors: rosenthal p. Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950740 Free PMC article.
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Doherty D, et al. Among authors: rosenthal p. J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574260 Free PMC article.
Urgent action is needed to confront artemisinin partial resistance in African malaria parasites.
Ishengoma DS, Gosling R, Martinez-Vega R, Beshir KB, Bailey JA, Chimumbwa J, Sutherland C, Conrad MD, Tadesse FG, Juliano JJ, Kamya MR, Mbacham WF, Ménard D, Rosenthal PJ, Raman J, Tatarsky A, Tessema SK, Fidock DA, Djimde AA. Ishengoma DS, et al. Among authors: rosenthal pj. Nat Med. 2024 Apr 25. doi: 10.1038/d41591-024-00028-y. Online ahead of print. Nat Med. 2024. PMID: 38710833 No abstract available.
Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial.
Ovchinsky N, Aumar M, Baker A, Baumann U, Bufler P, Cananzi M, Czubkowski P, Durmaz Ö, Fischer R, Indolfi G, Karnsakul WW, Lacaille F, Lee WS, Maggiore G, Rosenthal P, Ruiz M, Sokal E, Sturm E, van der Woerd W, Verkade HJ, Wehrman A, Clemson C, Yu Q, Ni Q, Ruvido J, Manganaro S, Mattsson JP. Ovchinsky N, et al. Among authors: rosenthal p. Lancet Gastroenterol Hepatol. 2024 Apr 23:S2468-1253(24)00074-8. doi: 10.1016/S2468-1253(24)00074-8. Online ahead of print. Lancet Gastroenterol Hepatol. 2024. PMID: 38670135 Free article.
Sofosbuvir-velpatasvir in children 3-17 years old with hepatitis C virus infection.
Jonas MM, Romero R, Rosenthal P, Lin CH, Verucchi G, Wen J, Balistreri WF, Whitworth S, Bansal S, Leung DH, Narkewicz MR, Gonzalez-Peralta RP, Mangia A, Karnsakul W, Rao GS, Shao J, de Jong J, Parhy B, Osinusi A, Kersey K, Murray KF, Sokal EM, Schwarz KB. Jonas MM, et al. Among authors: rosenthal p. J Pediatr Gastroenterol Nutr. 2024 Apr 21. doi: 10.1002/jpn3.12045. Online ahead of print. J Pediatr Gastroenterol Nutr. 2024. PMID: 38644678
Dramatic resurgence of malaria after 7 years of intensive vector control interventions in Eastern Uganda.
Kamya MR, Nankabirwa JI, Arinaitwe E, Rek J, Zedi M, Maiteki-Sebuguzi C, Opigo J, Staedke SG, Oruni A, Donnelly MJ, Greenhouse B, Briggs J, Krezanoski PJ, Bousema T, Rosenthal PJ, Olwoch P, Jagannathan P, Rodriguez-Barraquer I, Dorsey G. Kamya MR, et al. Among authors: rosenthal pj. medRxiv [Preprint]. 2024 Mar 16:2024.03.15.24304352. doi: 10.1101/2024.03.15.24304352. medRxiv. 2024. PMID: 38559091 Free PMC article. Preprint.
The emergence of artemisinin partial resistance in Africa: how do we respond?
Rosenthal PJ, Asua V, Bailey JA, Conrad MD, Ishengoma DS, Kamya MR, Rasmussen C, Tadesse FG, Uwimana A, Fidock DA. Rosenthal PJ, et al. Lancet Infect Dis. 2024 Mar 26:S1473-3099(24)00141-5. doi: 10.1016/S1473-3099(24)00141-5. Online ahead of print. Lancet Infect Dis. 2024. PMID: 38552654 Review.
1,161 results