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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.
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.
Joel G. Breman, ASTMH Past President (1936-2024).
Steketee RW, Rosenthal PJ. Steketee RW, et al. Among authors: rosenthal pj. Am J Trop Med Hyg. 2024 Oct 29;112(1):242-243. doi: 10.4269/ajtmh.24-0626. Print 2025 Jan 8. Am J Trop Med Hyg. 2024. PMID: 39787613 Free PMC article. No abstract available.
Interleukin 8-CXCR2 mediated neutrophil extracellular trap (NET) formation in biliary atresia associated with NET-Induced stellate cell activation.
Luo Y, Fraser L, Jezykowski J, Gupta NA, Miethke AG, Taylor SA, Alonso EM, Horslen S, Kohli R, Molleston JP, Kamath BM, Guthery SL, Loomes KM, Magee JC, Rosenthal P, Valentino P, Sokol RJ, Mack CL; Childhood Liver Disease Research Network. Luo Y, et al. Among authors: rosenthal p. Hepatology. 2024 Dec 18. doi: 10.1097/HEP.0000000000001195. Online ahead of print. Hepatology. 2024. PMID: 39693274
Regional action needed to halt antimalarial drug resistance in Africa.
Martinez-Vega R, Ishengoma DS, Gosling R, Rosenthal PJ, Dondorp A, Barnes KI, Nsanzabana C, Djimde AA, Ochola-Oyier LI, Tibenderana J, Chimumbwa J, Golassa L, Kapologwe NA, Mbacham WF, Kamya MR, Fidock DA, Komatsu R, von Seidlein L, Dhorda M. Martinez-Vega R, et al. Among authors: rosenthal pj. Lancet. 2025 Jan 4;405(10472):7-10. doi: 10.1016/S0140-6736(24)02706-5. Epub 2024 Dec 12. Lancet. 2025. PMID: 39674185 No abstract available.
Inhibitors of malaria parasite cyclic nucleotide phosphodiesterases block asexual blood-stage development and mosquito transmission.
Gomez-Gonzalez PJ, Gupta A, Drought LG, Patel A, Okombo J, van der Watt M, Walker-Gray R, Schindler KA, Burkhard AY, Yeo T, Narwal SK, Bloxham TS, Flueck C, Walker EM, Rey JA, Fairhurst KJ, Reader J, Park H, Pollard HG, Stewart LB, Brandner-Garrod L, Kristan M, Sterk GJ, van Nuland YM, Manko E, van Schalkwyk DA, Zheng Y, Leurs R, Dechering KJ, Aguiar ACC, Guido RVC, Pereira DB, Tumwebaze PK, Nosbya SL, Rosenthal PJ, Cooper RA, Palmer M, Parkinson T, Burrows JN, Uhlemann AC, Birkholtz LM, Small-Saunders JL, Duffy J, Fidock DA, Brown A, Gardner M, Baker DA. Gomez-Gonzalez PJ, et al. Among authors: rosenthal pj. Sci Adv. 2024 Dec 6;10(49):eadq1383. doi: 10.1126/sciadv.adq1383. Epub 2024 Dec 6. Sci Adv. 2024. PMID: 39642214 Free PMC article.
Systematic in vitro evolution in Plasmodium falciparum reveals key determinants of drug resistance.
Luth MR, Godinez-Macias KP, Chen D, Okombo J, Thathy V, Cheng X, Daggupati S, Davies H, Dhingra SK, Economy JM, Edgar RCS, Gomez-Lorenzo MG, Istvan ES, Jado JC, LaMonte GM, Melillo B, Mok S, Narwal SK, Ndiaye T, Ottilie S, Palomo Diaz S, Park H, Peña S, Rocamora F, Sakata-Kato T, Small-Saunders JL, Summers RL, Tumwebaze PK, Vanaerschot M, Xia G, Yeo T, You A, Gamo FJ, Goldberg DE, Lee MCS, McNamara CW, Ndiaye D, Rosenthal PJ, Schreiber SL, Serra G, De Siqueira-Neto JL, Skinner-Adams TS, Uhlemann AC, Kato N, Lukens AK, Wirth DF, Fidock DA, Winzeler EA. Luth MR, et al. Among authors: rosenthal pj. Science. 2024 Nov 29;386(6725):eadk9893. doi: 10.1126/science.adk9893. Epub 2024 Nov 29. Science. 2024. PMID: 39607932
Remoscope: a label-free imaging cytometer for malaria diagnostics.
Lebel PM, Jeyakumar I, Khoo MWL, Charlton C, Saxena A, Jacobsen A, James E, Huynh E, Wu W, Courville G, Fu PC, Raghavan M, Puccinelli R, Peter O, Dorsey G, Rosenthal P, DeRisi J, Gomez-Sjoberg R. Lebel PM, et al. Among authors: rosenthal p. medRxiv [Preprint]. 2024 Nov 13:2024.11.12.24317184. doi: 10.1101/2024.11.12.24317184. medRxiv. 2024. PMID: 39606416 Free PMC article. Preprint.
The extended recovery ring-stage survival assay is a scalable alternative for artemisinin susceptibility phenotyping of fresh Plasmodium falciparum isolates.
Okitwi M, Shoue DA, Checkley LA, Orena S, Ceja FG, Taremwa Y, Tumwebaze PK, Katairo T, Byaruhanga O, Sievert MA, Garg S, Kreutzfeld OK, Legac J, Bailey JA, Nsobya SL, Conrad MD, Rosenthal PJ, Ferdig MT, Cooper RA. Okitwi M, et al. Among authors: rosenthal pj. Antimicrob Agents Chemother. 2024 Dec 5;68(12):e0118324. doi: 10.1128/aac.01183-24. Epub 2024 Nov 15. Antimicrob Agents Chemother. 2024. PMID: 39545737
1,187 results