Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

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

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.

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

A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits

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

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

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

Identification of rare de novo epigenetic variations in congenital disorders

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,

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