Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Alejandro Martin-Trujillo"'
Autor:
Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp
Publikováno v:
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-reg
Externí odkaz:
https://doaj.org/article/7a65eca1218d4480a5e676161b9f759c
Autor:
Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of the
Externí odkaz:
https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb2264
Autor:
Marta Sanchez-Delgado, Alejandro Martin-Trujillo, Chiharu Tayama, Enrique Vidal, Manel Esteller, Isabel Iglesias-Platas, Nandita Deo, Olivia Barney, Ken Maclean, Kenichiro Hata, Kazuhiko Nakabayashi, Rosemary Fisher, David Monk
Publikováno v:
PLoS Genetics, Vol 11, Iss 11, p e1005644 (2015)
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of and
Externí odkaz:
https://doaj.org/article/a46682f4514d4245b4fde6c861e0373a
Autor:
Jozef Gecz, Oscar L. Rodriguez, Hugh E. Olsen, R. Frank Kooy, Nihir Patel, Benedict Paten, Alejandro Martin-Trujillo, Andrew J. Sharp, Sofie Metsu, Bharati Jadhav, Paras Garg, Miten Jain, Beate Ritz
Publikováno v:
American journal of human genetics, vol 107, iss 4
The American journal of human genetics
Am J Hum Genet
The American journal of human genetics
Am J Hum Genet
There is growing recognition that epivariations, most often recognized as promoter hypermethylation events that lead to gene silencing, are associated with a number of human diseases. However, little information exists on the prevalence and distribut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730b11c282fb450a16b58c239a8f665d
https://doi.org/10.1016/j.ajhg.2020.08.019
https://doi.org/10.1016/j.ajhg.2020.08.019
Autor:
Paras Garg, Bharati Jadhav, William Lee, Oscar L. Rodriguez, Alejandro Martin-Trujillo, Andrew J. Sharp
The human genome contains tens of thousands of large tandem repeats and hundreds of genes that show common and highly variable copy number changes. Due to their large size and repetitive nature, these Variable Number Tandem Repeats (VNTRs) and multic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f75449ae7a5b69086fe2e2df2e1741a
https://doi.org/10.1101/2022.01.26.22269891
https://doi.org/10.1101/2022.01.26.22269891
Autor:
Paras Garg, Bharati Jadhav, William Lee, Oscar L. Rodriguez, Alejandro Martin-Trujillo, Andrew J. Sharp
Publikováno v:
Am J Hum Genet
The human genome contains tens of thousands of large tandem repeats and hundreds of genes that show common and highly variable copy-number changes. Due to their large size and repetitive nature, these variable number tandem repeats (VNTRs) and multic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5ca4418d3f901f0ef74b55fc1bdf8c
https://pubmed.ncbi.nlm.nih.gov/35609568
https://pubmed.ncbi.nlm.nih.gov/35609568
Autor:
Gies Sj, Paras Garg, Oscar L. Rodriguez, Bharati Jadhav, Andrew J. Sharp, Alejandro Martin-Trujillo
Variable Number Tandem Repeats (VNTRs) are composed of large tandemly repeated motifs, many of which are highly polymorphic in copy number. However, due to their large size and repetitive nature, they remain poorly studied. To investigate the regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7e24fb95ecf279934bd7e94947a78a4
https://doi.org/10.1101/2020.12.16.423078
https://doi.org/10.1101/2020.12.16.423078
Autor:
Nihir Patel, Oscar J Rodriguez, Paras Garg, Miten Jain, Jozef Gecz, Andrew J. Sharp, Bharati Jadhav, Hugh E. Olsen, Benedict Paten, R. Frank Kooy, Alejandro Martin-Trujillo, Sofie Metsu, Beate Ritz
There is growing recognition that epivariations, most often recognized as promoter hypermethylation events that lead to gene silencing, are associated with a number of human diseases. However, little information exists on the prevalence and distribut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98556e1a28d1395a6cac88ea826b2826
Autor:
Daniel Bernstein, Steven R. DePalma, George A. Porter, Alejandro Martin-Trujillo, Bruce D. Gelb, Sarah U. Morton, Nihir Patel, Bharati Jadhav, Elizabeth Goldmuntz, David M. McKean, Felix Richter, Paras Garg, Martin Tristani-Firouzi, Jonathan G. Seidman, Christine E. Seidman, Alessandro Giardini, Jane W. Newburger, Wendy K. Chung, Andrew J. Sharp, Dorota Gruber, Richard B. Kim
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9708bf4a7f6440340522e3c9440657
https://doi.org/10.1371/journal.pgen.1009189
https://doi.org/10.1371/journal.pgen.1009189
Autor:
Bruce D. Gelb, Silvia De Rubeis, Ricky S. Joshi, Nihir Patel, William S. Gibson, Han G. Brunner, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Hui Mei, Corey T. Watson, Joseph D. Buxbaum, Gabriela Soares, Mafalda Barbosa, Fátima Lopes, Patrícia Maciel, Bharati Jadhav, Lisa Edelmann, Alejandro Martin-Trujillo, Jennifer Reichert, Dorothy E. Grice, Chloe Tessereau, Paras Garg, Kelsey Chetnik, Andrew J. Sharp
Publikováno v:
Nature Communications, 9, pp.
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Communications, 9:2064. Nature Publishing Group
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
Nature Communications
Nature Communications, 9,
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Communications, 9:2064. Nature Publishing Group
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
Nature Communications
Nature Communications, 9,
Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a substantial fraction of such disorders remain unexplai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad558756670d4cf897944d188120d940
https://hdl.handle.net/1822/57785
https://hdl.handle.net/1822/57785