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Page 1
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: sandoval r. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
Ragamin A, Gomes CC, Bindels-de Heus K, Sandoval R, Bassenden AV, Dib L, Kok F, Alves J, Mathijssen I, Medici-Van den Herik E, Eveleigh R, Gayden T, Pullens B, Berghuis A, van Slegtenhorst M, Wilke M, Jabado N, Mancini GMS, Gomez RS. Ragamin A, et al. Among authors: sandoval r. J Med Genet. 2022 Mar;59(3):305-312. doi: 10.1136/jmedgenet-2020-107427. Epub 2021 Mar 8. J Med Genet. 2022. PMID: 33685999 Free PMC article.
Breast metastasis around dental implants: a case report.
Dib LL, Soares AL, Sandoval RL, Nannmark U. Dib LL, et al. Clin Implant Dent Relat Res. 2007 Jun;9(2):112-5. doi: 10.1111/j.1708-8208.2007.00033.x. Clin Implant Dent Relat Res. 2007. PMID: 17535335
Renal Proximal Tubule Cell-Specific Megalin Deletion Does Not Affect Atherosclerosis But Induces Tubulointerstitial Nephritis in Mice Fed a Western Diet.
Amioka N, Franklin MK, Kukida M, Zhu L, Moorleghen JJ, Howatt DA, Katsumata Y, Mullick AE, Yanagita M, Martinez-Irizarry MM, Sandoval RM Jr, Dunn KW, Sawada H, Daugherty A, Lu HS. Amioka N, et al. Among authors: sandoval rm jr. Arterioscler Thromb Vasc Biol. 2025 Jan;45(1):74-89. doi: 10.1161/ATVBAHA.124.321366. Epub 2024 Nov 21. Arterioscler Thromb Vasc Biol. 2025. PMID: 39569521
Cemented versus cementless unicompartmental knee arthroplasty.
Iñiguez C M, Anastasiadis Z, Nazer MI, Sandoval R. Iñiguez C M, et al. Among authors: sandoval r. J ISAKOS. 2024 Dec;9(6):100340. doi: 10.1016/j.jisako.2024.100340. Epub 2024 Oct 18. J ISAKOS. 2024. PMID: 39427817 Free article. Review.
Neutron imaging of the deuterium-tritium tamping gas volume in an inertial confinement fusion hohlraum.
Izumi N, Higginson DP, Rosen MD, Riedel WM, Haines BM, Fittinghoff DN, Volegov P, Youmans AE, Kemp A, Chapman T, Hardy C, Gjemso J, Waltz C, Rogers SM, Woodworth BN, Sarginson T, Cheung R, Masters N, Sandoval R, Cunningham T, Ramirez R, Holder JP, Reynolds RL, Holunga DM, Briggs TM, Vonhof S, Roskopf NT, Schlossberg D, Moore AS, Kerr S, Hahn KD, Reichelt BL, Mackinnon AJ, Moody JD, Ross JS, Hinkel D. Izumi N, et al. Among authors: sandoval r. Rev Sci Instrum. 2024 Oct 1;95(10):103510. doi: 10.1063/5.0219564. Rev Sci Instrum. 2024. PMID: 39365111
Sulfotransferase 1C2 Increases Mitochondrial Respiration by Converting Mitochondrial Membrane Cholesterol to Cholesterol Sulfate.
Kolb AJ, Corridon P, Ullah M, Pfaffenberger ZJ, Xu WM, Winfree S, Sandoval RH, Hato T, Witzmann FA, Mohallem R, Franco J, Aryal UK, Atkinson SJ, Basile DP, Bacallao RL. Kolb AJ, et al. Among authors: sandoval rh. Biochemistry. 2024 Sep 17;63(18):2310-2322. doi: 10.1021/acs.biochem.3c00344. Epub 2024 Aug 28. Biochemistry. 2024. PMID: 39194960 Free PMC article.
337 results