Zobrazeno 1 - 10
of 1 355
pro vyhledávání: '"Fmr1 gene"'
Autor:
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets f
Externí odkaz:
https://doaj.org/article/b64a5b5b25b04463802e682d8c874118
Autor:
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge
Publikováno v:
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-7 (2024)
Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carrie
Externí odkaz:
https://doaj.org/article/3377385c90104102a02fb3c4967bb34b
Akademický článek
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Autor:
Tri Indah Winarni, Ye Hyun Hwang, Susan M. Rivera, David Hessl, Blythe P. Durbin-Johnson, Agustini Utari, Randi Hagerman, Flora Tassone
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8103 (2024)
In this study, the potential role and interaction of the APOε and KLOTHO genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and
Externí odkaz:
https://doaj.org/article/dfdada9d7fc64b4e9c8fbca47c10e69f
Autor:
Sara Milojevic, Arijit Ghosh, Vedrana Makevic, Maja Stojkovic, Maria Capovilla, Tomislav Tosti, Dejan Budimirovic, Dragana Protic
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7949 (2024)
Fragile X syndrome (FXS) is caused by the full mutation in the FMR1 gene on the Xq27.3 chromosome region. It is the most common monogenic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID). Besides ASD and ID and other
Externí odkaz:
https://doaj.org/article/ef7162aa2fa44d239b1b9c523b45fa57
Autor:
Maja Stojkovic, Milan Petrovic, Maria Capovilla, Sara Milojevic, Vedrana Makevic, Dejan B. Budimirovic, Louise Corscadden, Shuhan He, Dragana Protic
Publikováno v:
Biology, Vol 13, Iss 6, p 432 (2024)
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with
Externí odkaz:
https://doaj.org/article/1af7cf936b0f46f084fd0eb8e156dd9c
Autor:
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common como
Externí odkaz:
https://doaj.org/article/3c0b8312931542ca91a8be99b5e1acde
Autor:
Emily C. Timm, Nicollette L. Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A. Hall, Joan Ann O’Keefe
Publikováno v:
Sensors, Vol 24, Iss 8, p 2586 (2024)
FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait
Externí odkaz:
https://doaj.org/article/8fa99f7c571640f6959b12db08d7cf73
Autor:
Juan Chen, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jifeng Guo, Ranhui Duan, Beisha Tang, Qiao Yu, Zhenhua Liu
Publikováno v:
Frontiers in Aging Neuroscience, Vol 15 (2023)
ObjectiveThere is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD). We aimed to explore further the association between FMR1 CGG repeat e
Externí odkaz:
https://doaj.org/article/6e92dca6fd204f018c8beaf9dd0b7355
Akademický článek
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