Zobrazeno 1 - 10
of 7 457
pro vyhledávání: '"Fmr1"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the pervasive physical and cognitive effects of FXTAS, no studies have exa
Externí odkaz:
https://doaj.org/article/d83959a113084306a5f20f25557fae8e
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
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotei
Externí odkaz:
https://doaj.org/article/f0a20d8c80fb4694875f9c08b82b7c58
Autor:
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, Aina Borras, Tamara Barcos, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga
Publikováno v:
Journal of Ovarian Research, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicti
Externí odkaz:
https://doaj.org/article/44ef6b32854c471dbfb7931ee0dc8e7a
Autor:
Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5
Externí odkaz:
https://doaj.org/article/93dab1452e8f4bcf949855cc8e25ebb7
Autor:
Mahsa Eskandari, Elham Hosseini, Zahra Zandieh, Ehsan Noori, Raheleh Kafaeinezhad, Mansour Sadeghzadeh, Ali Awsat Mellati
Publikováno v:
Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān, Vol 27, Iss 1, Pp 31-45 (2024)
Introduction: The present study was conducted with aim to investigate the expression of the CYFIP1 gene in the umbilical cord blood (UCB) of newborns and its possible relationship with different categories of pre-pregnancy maternal body mass index (B
Externí odkaz:
https://doaj.org/article/fc66c94b7c46497f93fdf8d82d7593c8
Akademický článek
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Akademický článek
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Autor:
Roslyn Harold, Bridgette Kelleher, Keisha Novak, Wei Siong Neo, Teagan Stump, Taylor Lee, Tessa Garwood, Elizabeth Berry-Kravis, Dan Foti
Publikováno v:
Journal of Mood and Anxiety Disorders, Vol 6, Iss , Pp 100068- (2024)
The etiological heterogeneity of depression poses a challenge for prevention and intervention efforts. One solution is to map unique etiological pathways for subgroups defined by a singular risk factor. A relevant population for this approach is wome
Externí odkaz:
https://doaj.org/article/fab7f5e5c4844062a2ec5c1a78c8df51