Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women

Autor: Pierina Danos, Stefano Giannoni‐Luza, Alexis Germán Murillo Carrasco, Oscar Acosta, Maria Luisa Guevara‐Fujita, José Manuel Cotrina Concha, Henry Guerra Miller, Joseph Pinto Oblitas, Alfredo Aguilar Cartagena, Jhajaira M. Araujo, Ricardo Fujita, José Luis Buleje Sono

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

Abstract Background Promoter hypermethylation is one of the enabling mechanisms of hallmarks of cancer. Tumor suppressor genes like RARB and GSTP1 have been reported as hypermethylated in breast cancer tumors compared with normal tissues in several p

Externí odkaz: https://doaj.org/article/c23afe1478b04c97a1a53d3df5a70f58

Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas

Autor: Alejandro Estrada-Cuzcano, Ricardo Fujita, Maria Luisa Guevara-Fujita, Diana Rojas Málaga, Francia Huaman-Dianderas

Publikováno v: Revista Peruana de Medicina Experimental y Salud Pública, Vol 36, Iss 3, Pp 475-80 (2019)

Las distrofias musculares de Duchenne/Becker son enfermedades raras que reciben poca atención en nuestro medio. El objetivo del presente estudio fue implementar la técnica de amplificación múltiple dependiente de ligación por sondas (MLPA) y dem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac6d74d44d6ea8fb85db760ee818090
https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/4085

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

Autor: Milagros M. Dueñas-Roque, Carlos A. Castaneda, Victoria Marca, Ricardo Fujita, Hugo Abarca, Daisy Obispo, Luis Celis, Mario Cornejo-Olivas, Alejandro Estrada-Cuzcano, Milana Trubnykova, Victor Barrenechea, Francia Huaman-Dianderas, Bertha Gallardo, Ana Protzel, Diana Rojas-Málaga, Maria Luisa Guevara-Fujita, Jorge La Serna-Infantes, Rodrigo Sánchez

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

Background We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. Methods We used the combination of mul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3836a0584c5ecdcca8df50a83263a13
https://hdl.handle.net/20.500.12866/9852

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Autor: Tina T. Wong, Yaan Fun Chong, Kathryn P. Burdon, Sancy Low, Ningli Wang, Tuan Anh Tran, Emma Rusmayani, Alexander C Day, Kei Tashiro, Tam Thi Luu, Aye Thi Han, Christine A. Kiire, Nay Lin Oo, Hiroshi Sakai, Ewa Kosior-Jarecka, Sripriya Sarangapani, Mimiwati Zahari, Widya Artini Wiyogo, Seng-Chee Loon, Rigo Daniel Reyes, Rrima Dada, Robert Ritch, E-Shyong Tai, Jin-Xin Bei, Ren-Yi Wu, Balekudaru Shantha, Leyla Al-Jasim, Giulia Consolandi, Ya Xing Wang, Saleh A. Al-Obeidan, Tomasz Zarnowski, Shazia Micheal, Maria Luisa Guevara-Fujita, Raquel Quino, Yuzhen Jiang, Monisha E. Nongpiur, Yik Y. Teo, Francesca Pasutto, Hailin Meng, Mani Baskaran, Shigeru Kinoshita, Sunee Chansangpetch, Clement C Y Tham, Eranga N. Vithana, Paul J. Foster, Greet J. Boland, Deepak P. Edward, Young Hoon Hwang, Daniel H. Su, Ricardo Fujita, Huan Nguyen Pham, Yong Ho Sohn, Mark Seielstad, Rengaraj Venkatesh, Paul Mitchell, Morio Ueno, Chaw Chaw Khaing, Thanh Thu Nguyen, Celso Tello, Anita S. Chan, Muhammad Imran Khan, Vernon Yong, Eileen Png, Takanori Mizoguchi, Nguyen Van Vinh Chau, Soo Hong Chew, Laura Dallorto, Chunyan Qiao, Donald T.H. Tan, Norlina Ramli, Mei Chin Lee, Rahat Husain, Kar Seng Sim, Sarah J. Dunstan, Kyu Hyung Park, Stephen A Vernon, Thi Nguyen, Rodolfo A. Perez-Grossmann, Jelinar Mohamed-Noor, Jeeyun Ahn, David Lozano-Giral, Tan Do, Yin Mon Aung, Prin Rojanapongpun, Naris Kitnarong, Martin L. Hibberd, Chan-Yun Kim, Mineo Ozaki, Manchima Makornwattana, Ronnie George, José Paulo Cabral de Vasconcellos, Huong T T Bui, Chona S Liao, Saw Htoo Set, Chi Pui Pang, Paul T K Chew, Aliza Jap, Naushin Waseem, Toshiaki Kubota, Tanuj Dada, Hyoung Won Bae, Tin Aung, Ricardo Y. Abe, Khin Thida Oo, Periasamy Sundaresan, Jose Maria Martinez, Visanee Tantisevi, Shomi S. Bhattacharya, Anneke I. den Hollander, Vira Wardhana Istiantoro, Rohit Shetty, Boonsong Wanichwecharungruang, Liang Xu, Seng Kheong Fang, Masakazu Nakano, E. Randy Craven, Richard P. Ebstein, Ching-Lin Ho, Arkasubhra Ghosh, Jeanne J. Ogle, Hongyan Jia, Muneeb A. Faiq, Yasuo Kurimoto, Michiko Yonahara, Richard Stead, Li Jia Chen, Satoko Nakano, Anavaj Sakuntabhai, Masako Kuroda, Thayanithi Sandragasu, Leonard W. Yip, Lerprat Mangkornkanokpong, Pancy O. S. Tam, Seang-Mei Saw, Ching-Yu Cheng, Saravanan Vijayan, Jia Nee Foo, M B Melo, Wing Lau Ho, Ahmad Tajudin Liza-Sharmini, Alex W. Hewitt, Mary Ann T Catacutan, Carlo Lavia, Curt Hartleben-Matkin, Hon-Tym Wong, Daniela Paoli, Srinivasan Kavitha, Su Nyunt Zaw, Soon Thye Lim, Owen Hee, Yee Yee Aung, Shuang Ru Goh, Chiea Chuen Khor, Maria Cecilia Aquino, Jonathan C.H. Chan, Buddha Basnyat, Zeiras Eka Djamal, Nhu Hon Do, Tuyet Bach Trinh, John H. Fingert, Z. Xie, Thi Lam Huong Dao, Urszula Lukasik, Bruno Batista de Souza, Khaled K. Abu-Amero, Yoko Ikeda, Guillermo Barreto Fong, Eng Hui Gan, Guangxian Tang, Sami Al-Shahwan, Tien Dat Tran, Jost B. Jonas, Xiao Yin Chen, Nagaswamy Soumittra, David Goh, Ramanjit Sihota, Xiao-Yu Ng, Ki Ho Park, Mona S Awadalla, Sujie Fan, Edgar U Leuenberger, Hlaing May Than, Jimmy S. M. Lai, Yi Xin Zeng, Shamira A. Perera, Bonnie Nga Kwan Choy, Jie Jin Wang, Roopam Duvesh, Antonio Maria Fea, Anita Manassakorn, Victor H. K. Yong, Abhilasha Karkey, John F Salmon, Kessara Pathanapitoon, Raheel Qamar, Juan Carlos Zenteno, Jin Wook Jeoung, Jovell Ian M Peregrino, Harm Snippe, Yaakub Azhany, Humaira Ayub, Vania Castro Tamanaja, Paolo Frezzotti, Tung S Hoan, Rajesh S. Kumar, Chelvin C A Sng, Jamie E Craig, Anuwat Prutthipongsit, Vital Paulino Costa, Subbiah. R. Krishnadas, Kuldeep Mohanty, Michael A. Hauser, Vi Huyen Doan, Irene R Felarca, Lingam Vijaya, Jennifer W. H. Shum, Farah Akhtar, R. Rand Allingham, Nuttamon Srisamran, Desmond Quek, Huaizhou Wang, Thipnapa Patthanathamrongkasem, Giulia Pignata, Suman S Thapa, Kazuhiko Mori, Jamil Miguel Neto, Tien Yin Wong, Boon-Ang Lim, Zheng Li

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (5), pp.556-562. ⟨10.1038/ng.3540⟩
Nature Genetics, 2016, 48 (5), pp.556-562. ⟨10.1038/ng.3540⟩

International audience; Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0185d28484b54cebde1cf79b10107d89
https://hal-pasteur.archives-ouvertes.fr/pasteur-02083054

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in 16 Peruvian breast cancer families by Multiplex Ligation-dependent Probe Amplification (MLPA)

Autor: Jhajaira M. Araujo, Carlos E. Vigil, Jaime Ponce, Ricardo Fujita, Alfredo Aguilar, Francia D.P. Huaman, Henry L. Gomez, José Luis Buleje Sono, Joseph A. Pinto, Maria Luisa Guevara-Fujita, Frank Lizaraso

Publikováno v: Journal of Clinical Oncology. 33:e12553-e12553

e12553 Background: The large majority of alterations identified in the BRCA1 and BRCA2 genes are point mutations and small insertions/deletions. However, an increasing number of large genomic rearr...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::50c69dc643d3a1e0edb6b8c70bc83180
https://doi.org/10.1200/jco.2015.33.15_suppl.e12553