Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Sarah A. Curtis"'
Autor:
Caroline Caetano da Silva, Claudio Macias Trevino, Jason Mitchell, Hemma Murali, Casey Tsimbal, Eileen Dalessandro, Shannon H. Carroll, Simren Kochhar, Sarah W. Curtis, Ching Hsun Eric Cheng, Feng Wang, Eric Kutschera, Russ P. Carstens, Yi Xing, Kai Wang, Elizabeth J. Leslie, Eric C. Liao
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their disruption result in OFC in zebrafish, mouse and humans. Using esrp1/2 muta
Externí odkaz:
https://doaj.org/article/d34d269b32354c1e9fa1ec00b6085b6b
Autor:
Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105404- (2024)
Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and pheno
Externí odkaz:
https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1
Autor:
Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W. Curtis, Elizabeth J. Leslie, Lukas M. Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100313- (2024)
Summary: Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de n
Externí odkaz:
https://doaj.org/article/d1da2bc8f18746018552c2282332f15a
Autor:
Alan J M Brnabic, Sarah E Curtis, Joseph A Johnston, Albert Lo, Anthony J Zagar, Ilya Lipkovich, Zbigniew Kadziola, Megan H Murray, Timothy Ryan
Publikováno v:
PLoS ONE, Vol 19, Iss 3, p e0300708 (2024)
Researchers are increasingly using insights derived from large-scale, electronic healthcare data to inform drug development and provide human validation of novel treatment pathways and aid in drug repurposing/repositioning. The objective of this stud
Externí odkaz:
https://doaj.org/article/0d5a1ab4d7554a9784f75d42f490719a
Autor:
Kelsey Robinson, Trenell J. Mosley, Kenneth S. Rivera-González, Christopher R. Jabbarpour, Sarah W. Curtis, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, David J. Cutler, Michael P. Epstein, Lord J.J. Gowans, Jacqueline T. Hecht, Jeffrey C. Murray, Gary M. Shaw, Lina Moreno Uribe, Seth M. Weinberg, Harrison Brand, Mary L. Marazita, Robert J. Lipinski, Elizabeth J. Leslie
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100234- (2023)
Summary: Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a singl
Externí odkaz:
https://doaj.org/article/d701a794d6d64abda81ebac6e8be9898
Autor:
Karen L. Oliver, Colin A. Ellis, Ingrid E. Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir, Erin L. Heinzen, Heather C. Mefford, Andrew J. Bass, Sarah W. Curtis, Rebekah V. Harris, David C. Whiteman, Ingo Helbig, Ruth Ottman, Michael P. Epstein, Melanie Bahlo, Samuel F. Berkovic
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104079- (2022)
Summary: Background: The epilepsies are highly heritable conditions that commonly follow complex inheritance. While monogenic causes have been identified in rare familial epilepsies, most familial epilepsies remain unsolved. We aimed to determine (1)
Externí odkaz:
https://doaj.org/article/e6ab89744c3c49e6bb0fbb1187c051fd
Autor:
Sarah W. Curtis, Dawayland O. Cobb, Varun Kilaru, Metrecia L. Terrell, M. Elizabeth Marder, Dana Boyd Barr, Carmen J. Marsit, Michele Marcus, Karen N. Conneely, Alicia K. Smith
Publikováno v:
Epigenetics, Vol 16, Iss 3, Pp 338-352 (2021)
Exposure to polychlorinated biphenyls (PCBs), an endocrine-disrupting compound, is ubiquitous despite decades-old bans on the manufacture and use of PCBs. Increased exposure to PCBs is associated with adverse health consequences throughout life, incl
Externí odkaz:
https://doaj.org/article/7398b175a31b41458701e21d9175945e
Autor:
Michael F. Neblett, Sarah W. Curtis, Sabrina A. Gerkowicz, Jessica B. Spencer, Metrecia L. Terrell, Victoria S. Jiang, M. Elizabeth Marder, Dana Boyd Barr, Michele Marcus, Alicia K. Smith
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Abstract In 1973, accidental contamination of Michigan livestock with polybrominated biphenyls (PBBs) led to the establishment of a registry of exposed individuals that have been followed for > 40 years. Besides being exposed to PBBs, this cohort has
Externí odkaz:
https://doaj.org/article/dc330d19be15425e823361ee3d4e2f33
Autor:
Sarah W. Curtis, Dawayland O. Cobb, Varun Kilaru, Metrecia L. Terrell, M. Elizabeth Marder, Dana Boyd Barr, Carmen J. Marsit, Michele Marcus, Karen N. Conneely, Alicia K. Smith
Publikováno v:
Epigenetics, Vol 14, Iss 10, Pp 1003-1018 (2019)
Endocrine-disrupting compounds are associated with altered epigenetic regulation and adverse health outcomes, although inconsistent results suggest that people have varied responses to the same exposure. Interpersonal variation in response to environ
Externí odkaz:
https://doaj.org/article/ba43a83a42e143348b7690df8d722482
Autor:
Louise Newton, Jason A. Randall, Theresa Hunter, Shannon Keith, Tara Symonds, Roberta J. Secrest, Wendy J. Komocsar, Sarah E. Curtis, Linda Abetz-Webb, Michael Kappelman, April N. Naegeli
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 3, Iss 1, Pp 1-13 (2019)
Abstract Background Ulcerative colitis (UC) often first presents during adolescence and early adulthood. Primary symptoms of UC are well known, yet similarities and differences of disease experience in adults and adolescents are not well characterize
Externí odkaz:
https://doaj.org/article/edce99cbb88d4ed2871697ee8cf155ca