Zobrazeno 1 - 10
of 760
pro vyhledávání: '"Richard H Finnell"'
Publikováno v:
Reproductive and Developmental Medicine, Vol 4, Iss 2, Pp 72-77 (2020)
Objective: The purpose of this study was to examine the role of rare variants in the one-carbon metabolic pathway in the etiology of the cerebral folate deficiency (CFD) syndrome. The CFD syndrome is a neurometabolic syndrome identified by low concen
Externí odkaz:
https://doaj.org/article/5ab37128d3664ca1b9c8d8367d4e9f5d
Autor:
Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, National Birth Defects Prevention Study
Publikováno v:
PLoS Genetics, Vol 17, Iss 3, p e1009413 (2021)
Previous research on risk factors for obstructive heart defects (OHDs) focused on maternal and infant genetic variants, prenatal environmental exposures, and their potential interaction effects. Less is known about the role of paternal genetic varian
Externí odkaz:
https://doaj.org/article/9282ffc322c144a89147d812f1821ee8
Autor:
Xinyu Mei, Dashi Qi, Ting Zhang, Ying Zhao, Li Jin, Junli Hou, Jianhua Wang, Yan Lin, Yu Xue, Pingping Zhu, Zexian Liu, Lei Huang, Ji Nie, Wen Si, Jingyi Ma, Jianhong Ye, Richard H Finnell, Hexige Saiyin, Hongyan Wang, Jianyuan Zhao, Shimin Zhao, Wei Xu
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 3, Pp n/a-n/a (2020)
Abstract Hyperhomocysteinemia is a common metabolic disorder that imposes major adverse health consequences. Reducing homocysteine levels, however, is not always effective against hyperhomocysteinemia‐associated pathologies. Herein, we report the p
Externí odkaz:
https://doaj.org/article/6b50f0570cb5436ab3a125835132de2d
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92207 (2014)
Spina bifida is one of the most common neural tube defects (NTDs) with a complex etiology. Variants in planar cell polarity (PCP) genes have been associated with NTDs including spina bifida in both animal models and human cohorts. In this study, we s
Externí odkaz:
https://doaj.org/article/af74130fef6b44a7a6fbb7ddad812d93
Autor:
Carlo Donato Caiaffa, Gabriel Tukeman, Christian Zevallos Delgado, Yogeshwari S. Ambekar, Taye T. Mekonnen, Manmohan Singh, Victoria Rodriguez, Emily Ricco, Daniel Kraushaar, Salavat R. Aglyamov, Giuliano Scarcelli, Kirill V. Larin, Richard H. Finnell, Robert M. Cabrera
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
During the first month of pregnancy, the brain and spinal cord are formed through a process called neurulation. However, this process can be altered by low serum levels of folic acid, environmental factors, or genetic predispositions. In 2018, a surv
Externí odkaz:
https://doaj.org/article/0fad159c4858450ba1c8ef32989dc227
Autor:
Yunping Lei, Huiping Zhu, Cody Duhon, Wei Yang, M Elizabeth Ross, Gary M Shaw, Richard H Finnell
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69262 (2013)
Neural tube defects (NTDs) (OMIM #182940) including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect 0.5-1 in 1,000 live births in the United States, with varying prevalence around the world. Mutations
Externí odkaz:
https://doaj.org/article/83129a6d3bf04ad9993699b99d5a5199
Autor:
Marie Paschaki, Song-Chang Lin, Rebecca Lee Yean Wong, Richard H Finnell, Pascal Dollé, Karen Niederreither
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32447 (2012)
Studies in avian models have demonstrated an involvement of retinoid signaling in early neural tube patterning. The roles of this signaling pathway at later stages of spinal cord development are only partly characterized. Here we use Raldh2-null mous
Externí odkaz:
https://doaj.org/article/cdf8534bd33245dca26745fe08f65d71
Autor:
Zichao Zhang, Bogdan J Wlodarczyk, Karen Niederreither, Shankar Venugopalan, Sergio Florez, Richard H Finnell, Brad A Amendt
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24608 (2011)
The planar cell polarity effector gene Fuz regulates ciliogenesis and Fuz loss of function studies reveal an array of embryonic phenotypes. However, cilia defects can affect many signaling pathways and, in humans, cilia defects underlie several crani
Externí odkaz:
https://doaj.org/article/fab23b385abe45be9388a7b998c319ff
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 11 (2023)
Externí odkaz:
https://doaj.org/article/2ad85e8b832e4ac49786259528a894f4
Autor:
Dania María Pastora Bucardo, Fredman González, María Montes Pastora, Paula Andrea Pimienta Ramirez, Indiana López Bonilla, Nadja A Vielot, Richard H. Finnell
Publikováno v:
Birth Defects Research. 115:945-953