Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Uirá Souto Melo"'
Autor:
Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian disea
Externí odkaz:
https://doaj.org/article/973ce46b9b9a4d84b5710238b42950a4
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Autor:
Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ and WNT are known key players in driving ectopic bone formation. Identifying novel genes and pathways rel
Externí odkaz:
https://doaj.org/article/4848e7ed684e495f8ace27fcba8b8f77
Autor:
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and
Externí odkaz:
https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd
Autor:
Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/81fd3b11d7934ebcb13c04401024e74d
Autor:
Allysson Allan de Farias, Kelly Nunes, Renan Barbosa Lemes, Ronald Moura, Gustavo Ribeiro Fernandes, Uirá Souto Melo, Mayana Zatz, Fernando Kok, Silvana Santos
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Abstract The mutation age and local ancestry of chromosomal segments harbouring mutations associated with autosomal recessive (AR) disorders in Brazilian admixed populations remain unknown; additionally, inbreeding levels for these affected individua
Externí odkaz:
https://doaj.org/article/d723e7e4b3614cfe81131cb8fa90adec
Autor:
Luiz Carlos Caires-Júnior, Ernesto Goulart, Uirá Souto Melo, Bruno Henrique Silva Araujo, Lucas Alvizi, Alessandra Soares-Schanoski, Danyllo Felipe de Oliveira, Gerson Shigeru Kobayashi, Karina Griesi-Oliveira, Camila Manso Musso, Murilo Sena Amaral, Lucas Ferreira daSilva, Renato Mancini Astray, Sandra Fernanda Suárez-Patiño, Daniella Cristina Ventini, Sérgio Gomes da Silva, Guilherme Lopes Yamamoto, Suzana Ezquina, Michel Satya Naslavsky, Kayque Alves Telles-Silva, Karina Weinmann, Vanessa van der Linden, Helio van der Linden, João Ricardo Mendes de Oliveira, Nivia Maria Rodrigues Arrais, Adriana Melo, Thalita Figueiredo, Silvana Santos, Joanna Goes Castro Meira, Saulo Duarte Passos, Roque Pacheco de Almeida, Ana Jovina Barreto Bispo, Esper Abrão Cavalheiro, Jorge Kalil, Edécio Cunha-Neto, Helder Nakaya, Robert Andreata-Santos, Luis Carlos de Souza Ferreira, Sergio Verjovski-Almeida, Paulo Lee Ho, Maria Rita Passos-Bueno, Mayana Zatz
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Zika virus (ZIKV) infection can cause congenital Zika syndrome (CZS), but the underlying mechanisms are poorly understood. Here, the authors generate neural progenitor cells from dizygotic twins with a discordant phenotype regarding CZS and study the
Externí odkaz:
https://doaj.org/article/2fae1218b8954f70ace6659a61a3d04f
Publikováno v:
Stem Cell Research, Vol 31, Iss , Pp 52-54 (2018)
An efficient one-step procedure to reprogram fibroblasts into human induced pluripotent stem cells (hiPSC) and perform CRISPR/Cas9 gene editing simultaneously was recently reported. Here we show that such simultaneous reprogramming and gene editing c
Externí odkaz:
https://doaj.org/article/42f03e3b02b04193b623f1a6ef3912c4
Autor:
Luiz Carlos Caires-Júnior, Ernesto Goulart, Uirá Souto Melo, Bruno Henrique Silva Araujo, Lucas Alvizi, Alessandra Soares-Schanoski, Danyllo Felipe de Oliveira, Gerson Shigeru Kobayashi, Karina Griesi-Oliveira, Camila Manso Musso, Murilo Sena Amaral, Lucas Ferreira daSilva, Renato Mancini Astray, Sandra Fernanda Suárez-Patiño, Daniella Cristina Ventini, Sérgio Gomes da Silva, Guilherme Lopes Yamamoto, Suzana Ezquina, Michel Satya Naslavsky, Kayque Alves Telles-Silva, Karina Weinmann, Vanessa van der Linden, Helio van der Linden, João Ricardo Mendes de Oliveira, Nivia Maria Rodrigues Arrais, Adriana Melo, Thalita Figueiredo, Silvana Santos, Joanna Goes Castro Meira, Saulo Duarte Passos, Roque Pacheco de Almeida, Ana Jovina Barreto Bispo, Esper Abrão Cavalheiro, Jorge Kalil, Edécio Cunha-Neto, Helder Nakaya, Robert Andreata-Santos, Luis Carlos de Souza Ferreira, Sergio Verjovski-Almeida, Paulo Lee Ho, Maria Rita Passos-Bueno, Mayana Zatz
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-2 (2018)
The original PDF version of this Article contained errors in the spelling of Luiz Carlos Caires-Júnior, Uirá Souto Melo, Bruno Henrique Silva Araujo, Alessandra Soares-Schanoski, Murilo Sena Amaral, Kayque Alves Telles-Silva, Vanessa van der Linden
Externí odkaz:
https://doaj.org/article/9203f91a5d55493495ac4983488712a1
Autor:
Uirá Souto Melo
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
A síndrome SPOAN (acrônimo do inglês spastic paraplegia, optic atrophy and neuropathy) é uma doença neurodegenerativa de herança autossômica recessiva que tem como achados clínicos a atrofia ótica congênita não progressiva, paraplegia esp
Autor:
Uirá Souto Melo
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
Os estados do Nordeste brasileiro concentram elevadas taxas de pessoas com deficiências, mas pouco se estudou a respeito de suas causas. O objetivo desse estudo foi determinar a prevalência da deficiência auditiva e estimar a contribuição dos fa