Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Catarina Silveira"'
Autor:
Karl Lhotta, Peter J. Conlon, Daniel P. Gale, Victoria Robins, Miroslav Votruba, Kendrah Kidd, Céline Schaeffer, Dominik Steubl, Ying Maggie Chen, Catarina Silveira, Gianluca Caridi, Lauren Martin, Claudia Izzi, Antonio Amoroso, Eric Olinger, Jorge Reis Almeida, Stanislav Kmoch, Rita Raposeiro, Daniela Gianchino, Alena Vrbacká, Hannah C. Ainsworth, Martina Živná, Gian Marco Ghiggeri, Kateřina Hodaňová, Rosa J. Torres, Christine Gast, Joaquim Calado, Abbigail Taylor, Olivier Devuyst, Katherine A. Benson, Susan L. Murray, Cintia Fernandes de Souza, Eva Gombos, Emily Johnson, Francesco Scolari, Gianpiero L. Cavalleri, Petr Vylet'al, Jasmin Divers, Anthony J. Bleyer, Luca Rampoldi, Sofia C Jorge, Nelson Weller
Publikováno v:
Kidney International Reports, Vol. 5, no. 9, p. 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050
https://hdl.handle.net/2078.1/239393
https://hdl.handle.net/2078.1/239393
Autor:
Kristian Helin, Higinio Dopeso, Robert A. Soslow, Zhen Sun, Anqi Li, Wesley R Samore, Yonina Bykov, Arnaud Da Cruz Paula, Dmitriy Zamarin, Fresia Pareja, Edaise M da Silva, Sarah H. Kim, Esther Oliva, Thais Basili, Rui Bi, Anthe Stylianou, Charles W. Ashley, Achim A. Jungbluth, Lorenzo Ferrando, Rodrigo Gularte-Mérida, Ana Paula Martins Sebastiao, Britta Weigelt, Sho Fujisawa, Pier Selenica, Catarina Silveira, Nadeem R. Abu-Rustum, Jorge S. Reis-Filho, Caitlin G. Smith
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Kim, S H, Da Cruz Paula, A, Basili, T, Dopeso, H, Bi, R, Pareja, F, da Silva, E M, Gularte-Mérida, R, Sun, Z, Fujisawa, S, Smith, C G, Ferrando, L, Martins Sebastião, A P, Bykov, Y, Li, A, Silveira, C, Ashley, C W, Stylianou, A, Selenica, P, Samore, W R, Jungbluth, A A, Zamarin, D, Abu-Rustum, N R, Helin, K, Soslow, R A, Reis-Filho, J S, Oliva, E & Weigelt, B 2020, ' Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary ', Nature Communications, vol. 11, no. 1, pp. 44 . https://doi.org/10.1038/s41467-019-13806-x
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Kim, S H, Da Cruz Paula, A, Basili, T, Dopeso, H, Bi, R, Pareja, F, da Silva, E M, Gularte-Mérida, R, Sun, Z, Fujisawa, S, Smith, C G, Ferrando, L, Martins Sebastião, A P, Bykov, Y, Li, A, Silveira, C, Ashley, C W, Stylianou, A, Selenica, P, Samore, W R, Jungbluth, A A, Zamarin, D, Abu-Rustum, N R, Helin, K, Soslow, R A, Reis-Filho, J S, Oliva, E & Weigelt, B 2020, ' Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary ', Nature Communications, vol. 11, no. 1, pp. 44 . https://doi.org/10.1038/s41467-019-13806-x
Sclerosing stromal tumor (SST) of the ovary is a rare type of sex cord-stromal tumor (SCST), whose genetic underpinning is currently unknown. Here, using whole-exome, targeted capture and RNA-sequencing, we report recurrent FHL2-GLI2 fusion genes in