Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Rosaysela Santos"'
Autor:
Daniel A. Newkirk, Yen-Yun Chen, Richard Chien, Weihua Zeng, Jacob Biesinger, Ebony Flowers, Shimako Kawauchi, Rosaysela Santos, Anne L. Calof, Arthur D. Lander, Xiaohui Xie, Kyoko Yokomori
Publikováno v:
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-20 (2017)
Abstract Background Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIPBL loads cohesin o
Externí odkaz:
https://doaj.org/article/8a7d88070ff64f7386c9876f9321991a
Autor:
Rosaysela Santos, Shimako Kawauchi, Russell E Jacobs, Martha E Lopez-Burks, Hojae Choi, Jamie Wikenheiser, Benedikt Hallgrimsson, Heather A Jamniczky, Scott E Fraser, Arthur D Lander, Anne L Calof
Publikováno v:
PLoS Biology, Vol 14, Iss 9, p e2000197 (2016)
Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here,
Externí odkaz:
https://doaj.org/article/a35153e1e5d649febbe5a6a1db5ddb10
Autor:
Shimako Kawauchi, Anne L Calof, Rosaysela Santos, Martha E Lopez-Burks, Clint M Young, Michelle P Hoang, Abigail Chua, Taotao Lao, Mark S Lechner, Jeremy A Daniel, Andre Nussenzweig, Leonard Kitzes, Kyoko Yokomori, Benedikt Hallgrimsson, Arthur D Lander
Publikováno v:
PLoS Genetics, Vol 5, Iss 9, p e1000650 (2009)
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi, orthologs of NIPBL regulate cohesin, a complex of proteins that is
Externí odkaz:
https://doaj.org/article/8dc221766cd049239fd0f865f4826205
Autor:
Alexej Abyzov, Kevin Cameron Allan, Anahita Amiri, Heather M. Brown, Anne L. Calof, Qiang Chang, Kimberly M. Christian, Benjamin L.L. Clayton, Francesca Cucinotta, Alissa M. D'Gama, Mathew Sean Elitt, L. Fernandez, R. Holly Fitch, Jeffrey A. Golden, Laura Groves, R.J. Hagerman, Eric Jaffe, B.L. Johnson-Kerner, Alexandre Jourdon, Arthur D. Lander, M.J. Leigh, Youngshin Lim, A.H. Mahnke, Jessica Mariani, Guo-li Ming, R.C. Miranda, S.M. Mooney, Jeffrey L. Neul, Zachary Scott Nevin, Lee Niswander, Christopher Oliver, Antonio M. Persico, Sofia A. Pezoa, Christina Pyrgaki, Lawrence T. Reiter, Arianna Ricciardello, Edward Rubenstein, Mustafa Sahin, Rosaysela Santos, Soraya Scuderi, E.H. Sherr, Hongjun Song, Siddharth Srivastava, Paul J. Tesar, Laura Turriziani, Flora M. Vaccarino, Christopher A. Walsh, Feinan Wu, Eunice Y. Yuen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::647b4f4ae80f0afd2ea6367a538313df
https://doi.org/10.1016/b978-0-12-814409-1.01002-8
https://doi.org/10.1016/b978-0-12-814409-1.01002-8
Cornelia de Lange syndrome (CdLS) is a multisystem birth defect disorder characterized by growth retardation, craniofacial dysmorphia and other structural abnormalities, deficits in cognition and communication, and behavioral changes. In this chapter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb78fa4f789e1078c4019f976d8c81e4
https://doi.org/10.1016/b978-0-12-814409-1.00006-9
https://doi.org/10.1016/b978-0-12-814409-1.00006-9
Autor:
Yen-Yun Chen, Rosaysela Santos, Ebony Flowers, Christopher I. Ma, Alexander R. Ball, Isaiah Mohr, Shimako Kawauchi, Chengguo Yao, Jianhuang Lin, Xiangduo Kong, Mitsuru Okuwaki, Richard Chien, Ryan Thai, Anne L. Calof, Kyoko Yokomori, Jonathan Chau, Steven M. Blue, Arthur D. Lander, Yongsheng Shi, Eric L. Van Nostrand, Gene W. Yeo
NIPBL is an essential loader of cohesin to mediate sister chromatid cohesion and chromatin loop organization. NIPBL mutations cause Cornelia de Lange Syndrome. How NIPBL’s genomic localization is specified is not fully understood. We found that NIP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::779842d20b80b44a3b6193097d7462e4
https://doi.org/10.1101/658492
https://doi.org/10.1101/658492
Investigating the Origins of Congenital Heart Defects in a Mouse Model of Cornelia de Lange Syndrome
Autor:
Rosaysela Santos, Anne L. Calof, Arthur D. Lander, Louise A Villagomez, Brian Bui, Martha E. Lopez-Burks
Publikováno v:
The FASEB Journal. 33
Autor:
Martha E. Lopez-Burks, Shimako Kawauchi, Arthur D. Lander, Rosaysela Santos, Akihiko Muto, Anne L. Calof, Thomas F. Schilling
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics, vol 172, iss 2
Kawauchi, S; Santos, R; Muto, A; Lopez-Burks, ME; Schilling, TF; Lander, AD; et al.(2016). Using Mouse and Zebrafish Models to Understand the Etiology of Developmental Defects in Cornelia de Lange Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 172(2), 138-145. doi: 10.1002/ajmg.c.31484. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/1kn4m2w9
Kawauchi, S; Santos, R; Muto, A; Lopez-Burks, ME; Schilling, TF; Lander, AD; et al.(2016). Using Mouse and Zebrafish Models to Understand the Etiology of Developmental Defects in Cornelia de Lange Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 172(2), 138-145. doi: 10.1002/ajmg.c.31484. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/1kn4m2w9
Cornelia de Lange Syndrome (CdLS) is a multisystem birth defects disorder that affects every tissue and organ system in the body. Understanding the factors that contribute to the origins, prevalence, and severity of these developmental defects provid
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:146-154
Cornelia de Lange Syndrome (CdLS) is characterized by a wide variety of structural and functional abnormalities in almost every organ system of the body. CdLS is now known to be caused by mutations that disrupt the function of the cohesin complex or
Autor:
H. Wayne Lambert, Ryan L. Cook, Matthew W. Auten, Rosaysela Santos, Joy Grise, Christina B. Herrold, Matthew J. Zdilla
Publikováno v:
The FASEB Journal. 34:1-1