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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. Guo L, et al. Among authors: musso cm. Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982609 Free PMC article.
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, de Caires LC Jr, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. Miller EE, et al. Among authors: musso cm. Hum Mol Genet. 2017 Jun 15;26(12):2177-2191. doi: 10.1093/hmg/ddx078. Hum Mol Genet. 2017. PMID: 28334780 Free PMC article.
Santos syndrome is caused by mutation in the WNT7A gene.
Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC. Alves LU, et al. Among authors: musso cm. J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31. J Hum Genet. 2017. PMID: 28855715
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, Gomes da Silva S, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Caires-Júnior LC, et al. Among authors: musso cm. Nat Commun. 2018 Feb 2;9(1):475. doi: 10.1038/s41467-017-02790-9. Nat Commun. 2018. PMID: 29396410 Free PMC article.
Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, da Silva SG, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Caires-Júnior LC, et al. Among authors: musso cm. Nat Commun. 2018 Mar 13;9(1):1114. doi: 10.1038/s41467-018-03497-1. Nat Commun. 2018. PMID: 29535311 Free PMC article.
Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β.
Goulart E, de Caires-Junior LC, Telles-Silva KA, Araujo BHS, Kobayashi GS, Musso CM, Assoni AF, Oliveira D, Caldini E, Gerstenhaber JA, Raia S, Lelkes PI, Zatz M. Goulart E, et al. Among authors: musso cm. Stem Cell Res Ther. 2019 Aug 15;10(1):258. doi: 10.1186/s13287-019-1367-x. Stem Cell Res Ther. 2019. PMID: 31416480 Free PMC article.
26 results