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Page 1
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F. Lovric S, et al. Among authors: goncalves s. J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165339 Free PMC article.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Braun DA, et al. Among authors: goncalves s. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4. J Clin Invest. 2018. PMID: 30179222 Free PMC article.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M. Gonçalves S, et al. PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. PLoS Genet. 2018. PMID: 29768408 Free PMC article.
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M. Gonçalves S, et al. PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct. PLoS Genet. 2018. PMID: 30365502 Free PMC article.
Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks.
Boerries M, Grahammer F, Eiselein S, Buck M, Meyer C, Goedel M, Bechtel W, Zschiedrich S, Pfeifer D, Laloë D, Arrondel C, Gonçalves S, Krüger M, Harvey SJ, Busch H, Dengjel J, Huber TB. Boerries M, et al. Among authors: goncalves s. Kidney Int. 2013 Jun;83(6):1052-64. doi: 10.1038/ki.2012.487. Epub 2013 Jan 30. Kidney Int. 2013. PMID: 23364521 Free article.
Lacustrine sedimentation patterns at the Northern Antarctic Peninsula and surroundings as a response to late Holocene and Modern Climate changes.
Evangelista H, Verkulich S, Mavlyudov B, Souza Echer MP, Licinio MV, Dercon G, García-Rodríguez F, Neto AA, Kusch S, Abuchacra RC, Oaquim ABJ, Gonçalves SJ Jr, Pushina Z, Shimizu MH, Heiling M, Slaets J, Resch C, Castillo A, Gruber R. Evangelista H, et al. Among authors: goncalves sj jr. Sci Rep. 2024 Dec 30;14(1):32084. doi: 10.1038/s41598-024-83754-0. Sci Rep. 2024. PMID: 39739084 Free PMC article.
931 results