Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Carolyn M. Yrigollen"'
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:
Brain Sciences, Vol 9, Iss 1, p 17 (2019)
Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders. CRISPR-based therapies are already being assessed in clinical trials, and evaluation of
Externí odkaz:
https://doaj.org/article/3be5225f2736471dbeea35fdaeb05b3d
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy.
CRISPR/Cas9 gene editing is an emerging therapeutic modality that shows promise in Huntington's disease (HD) and spinocerebellar ataxia (SCA) mouse models. However, advancing CRISPR-based therapies requires methods to fully define in vivo editing out
Autor:
Pedro Gonzalez-Alegre, Yong Hong Chen, Geary R. Smith, Enrico Radaelli, Joel M. Stein, Timothy J. Lucas, Megan S. Keiser, Beverly L. Davidson, Ellie M. Carrell, Ronald L. Wolf, Amy Muehlmatt, Carolyn M. Yrigollen, Paul T. Ranum
Publikováno v:
Nat Med
RNA interference (RNAi) for spinocerebellar ataxia type 1 can prevent and reverse behavioral deficits and neuropathological readouts in mouse models, with safety and benefit lasting over many months. The RNAi trigger, expressed from adeno-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98a56cafb5ddb46197fe5fbde1961fc
https://europepmc.org/articles/PMC8605996/
https://europepmc.org/articles/PMC8605996/
Publikováno v:
Clinical Chemistry. 61:182-190
BACKGROUND The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health
Autor:
Randi J Hagerman, Marisol Silva, Blythe Durbin-Johnson, Dalyir I. Pretto, Carolyn M. Yrigollen, Reem Rafik AlOlaby, Stefan R. Sweha, Flora Tassone
Publikováno v:
Brain & development, vol 39, iss 6
ObjectivesSeveral neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86644b2a71c08fe49ca40e09b646d66
https://escholarship.org/uc/item/2fn4f906
https://escholarship.org/uc/item/2fn4f906
Autor:
Hiu Tung Tang, Blythe Durbin-Johnson, Carolyn M. Yrigollen, John Eid, Paul J. Hagerman, Chris Raske, Erick Loomis, Dalyir I. Pretto, Flora Tassone
Publikováno v:
Journal of Medical Genetics. 52:42-52
Background Over 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55–200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will
Autor:
Maria Lee, Daniel Campbell, Johanna Bick, Carolyn M. Yrigollen, Antony Joseph, Jin Chang, Elena L. Grigorenko
Publikováno v:
Journal of Child Psychology and Psychiatry. 54:1056-1065
It seems obvious to state that schooling makes a difference in individual developmental and life outcomes, and that it strongly influences who will contribute to society at large and what kind of contributions will be made (Lutz & KC, 2011). In devel
Publikováno v:
Journal of Human Genetics. 58:553-559
The CGG repeat within the premutation range in the fragile X mental retardation 1 (FMR1) gene can lead to neurodegenerative disorders and intellectual disabilities. An increase in size upon the transmission from parent to child is more likely to occu
Autor:
Duaa Sharfi, Maria Lee, Oksana Naumova, Elena L. Grigorenko, Tara M. Thompson, Carolyn M. Yrigollen
Publikováno v:
Behavior Genetics. 43:168-176
Epigenetic mechanisms, including DNA methylation, that underlie neuropsychiatric conditions have become a promising area of research. Most commonly used DNA sources in such studies are peripheral (whole) blood (WB), saliva (SL), and lymphoblastoid ce