Zobrazeno 1 - 10
of 2 426
pro vyhledávání: '"premutation"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and pot
Externí odkaz:
https://doaj.org/article/26bb71199b0b41e491269d343a342386
Autor:
Danuta Z. Loesch, Freddy Chafota, Minh Q. Bui, Elsdon Storey, Anna Atkinson, Nicholas G. Martin, Scott D. Gordon, Miguel E. Rentería, Randi J. Hagerman, Flora Tassone
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Premutation alleles of the FMR1 X‐linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late‐onset neurological involvements, including most severe disorder termed Fragile X‐associat
Externí odkaz:
https://doaj.org/article/de57b6e3ca4d47b9b3ab494f8af25f04
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:
Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, Paola Mandich
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved i
Externí odkaz:
https://doaj.org/article/c2fed8fc37084d1e90c4a1d7c8c7c8fe
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
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:
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
Autor:
Danuta Z. Loesch, Anna Atkinson, Deborah A. Hall, Flora Tassone, Paige Stimpson, Elsdon Storey
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundThere is evidence for a significant excess of kinetic upper limb tremor in non-FXTAS female FMR1 premutation carriers. The present study explores the possibility that this tremor is associated with various other features reminiscent of thos
Externí odkaz:
https://doaj.org/article/b7de074e7e544edba62deb799417e776
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