Zobrazeno 1 - 10
of 1 010
pro vyhledávání: '"Richard H Finnell"'
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:
Salvatore Vaiasicca, Gianmarco Melone, David W. James, Marcos Quintela, Alessandra Preziuso, Richard H. Finnell, Robert Steven Conlan, Lewis W. Francis, Bruna Corradetti
Publikováno v:
Stem Cell Research & Therapy, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Background Down syndrome (DS) clinical multisystem condition is generally considered the result of a genetic imbalance generated by the extra copy of chromosome 21. Recent discoveries, however, demonstrate that the molecular mechanisms activ
Externí odkaz:
https://doaj.org/article/893ffeab788f49c1b46c45eede2c8f52
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 11 (2023)
Externí odkaz:
https://doaj.org/article/2ad85e8b832e4ac49786259528a894f4
Autor:
Xuanye Cao, Jianfeng Xu, Ying L. Lin, Robert M. Cabrera, Qiuying Chen, Chaofan Zhang, John W. Steele, Xiao Han, Steven S. Gross, Bogdan J. Wlodarczyk, James R. Lupski, Wei Li, Hongyan Wang, Richard H. Finnell, Yunping Lei
Publikováno v:
Cell Discovery, Vol 9, Iss 1, Pp 1-5 (2023)
Externí odkaz:
https://doaj.org/article/cac18d4dab7a40cb90efaf4b8f0c2cda
Autor:
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen
Publikováno v:
iScience, Vol 26, Iss 5, Pp 106663- (2023)
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in t
Externí odkaz:
https://doaj.org/article/b0b794d7b77446b69693c5142be7b3e9
Autor:
Tian Tian, Xinyuan Lai, Kuanhui Xiang, Xiao Han, Shengju Yin, Robert M. Cabrera, John W. Steele, Yunping Lei, Xuanye Cao, Richard H. Finnell, Linlin Wang, Aiguo Ren
Publikováno v:
Epigenetics, Vol 17, Iss 2, Pp 133-146 (2022)
Neural tube defects (NTDs) are a group of common and severe congenital malformations. The PI3K-AKT signalling pathway plays a crucial role in the neural tube development. There is limited evidence concerning any possible association between aberrant
Externí odkaz:
https://doaj.org/article/b4ad165030fe41eeb2c7a7ef1707b370
Autor:
John W. Steele, Ying Linda Lin, Nellie Chen, Bogdan J. Wlodarczyk, Qiuying Chen, Nabeel Attarwala, Madhu Venkatesalu, Robert M. Cabrera, Steven S. Gross, Richard H. Finnell
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Valproic acid (VPA, valproate, Depakote) is a commonly used anti-seizure medication (ASM) in the treatment of epilepsy and a variety of other neurological disorders. While VPA and other ASMs are efficacious for management of seizures, they also incre
Externí odkaz:
https://doaj.org/article/6faac93a50304eb38ab9cdafe391c47f
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:
Ainara Cano, Mercedes Vazquez-Chantada, Javier Conde-Vancells, Aintzane Gonzalez-Lahera, David Mosen-Ansorena, Francisco J. Blanco, Karine Clément, Judith Aron-Wisnewsky, Albert Tran, Philippe Gual, Carmelo García-Monzón, Joan Caballería, Azucena Castro, María Luz Martínez-Chantar, José M. Mato, Huiping Zhu, Richard H. Finnell, Ana M. Aransay
Publikováno v:
Biomedicines, Vol 11, Iss 2, p 337 (2023)
Low serum folate levels are inversely related to metabolic associated fatty liver disease (MAFLD). The role of the folate transporter gene (SLC19A1) was assessed to clarify its involvement in lipid accumulation during the onset of MAFLD in humans and
Externí odkaz:
https://doaj.org/article/604e1f5cef3f4e0f877c63c8750f776b
Autor:
Zhongzhong Chen, Xiaoling Lin, Yunping Lei, Haitao Chen, Richard H. Finnell, Yaping Wang, Jianfeng Xu, Daru Lu, Hua Xie, Fang Chen
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-10 (2019)
Abstract Background Hypospadias risk–associated gene variants have been reported in populations of European descent using genome-wide association studies (GWASs). There is little known at present about any possible hypospadias risk associations in
Externí odkaz:
https://doaj.org/article/a246645d430746dc9efc247d776dbc45