Zobrazeno 1 - 10
of 52
pro vyhledávání: '"FXAND"'
Autor:
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Publikováno v:
Cells, Vol 12, Iss 18, p 2330 (2023)
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms lead
Externí odkaz:
https://doaj.org/article/a0b6f75a833d4184b35d72147f86dffc
Autor:
Sodhi DK, Hagerman R
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 14, Pp 1689-1699 (2021)
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND I
Externí odkaz:
https://doaj.org/article/bc534780109143ca86fc1076d6451556
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Frag
Externí odkaz:
https://doaj.org/article/e0e1e4251afd4762897ab3ba9ba943e0
Autor:
Ellery Santos, Chinelo Emeka‐Nwonovo, Jun Yi Wang, Andrea Schneider, Flora Tassone, Paul Hagerman, Randi Hagerman
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall unde
Externí odkaz:
https://doaj.org/article/b78ba683a37f4c8e8d99698b7f0d320f
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 16, p 8368 (2021)
Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleio
Externí odkaz:
https://doaj.org/article/574ac3fea7954b5dad9c149f7fc2abf5
Autor:
Deepika Kour Sodhi, Randi Hagerman
Publikováno v:
Pharmacogenomics and Personalized Medicine
The fragile X premutation is characterized by 55–200 CGG repeats in the 5ʹ untranslated region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbbccf4e4ac82cf5237a946ac94eb577
http://europepmc.org/articles/PMC8721286
http://europepmc.org/articles/PMC8721286
Autor:
Randi J. Hagerman, Dragana Protic, Akash Rajaratnam, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Andrea Schneider
Publikováno v:
Frontiers in Psychiatry, Vol 9 (2018)
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism. This review focuses on neuropsychiatric di
Externí odkaz:
https://doaj.org/article/09602dd746e54bcc8cfd3f7725167ccd
Autor:
Maria Jimena Salcedo-Arellano, Wilmar Saldarriaga-Gil, Ana Maria Cabal-Herrera, Randi J Hagerman
Publikováno v:
Intractable Rare Dis Res
Intractable & rare diseases research, vol 9, iss 2
Intractable & rare diseases research, vol 9, iss 2
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the FMR1 gene. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d856a9df9650c35d12cc71ae26d2ca
https://doi.org/10.5582/irdr.2020.01028
https://doi.org/10.5582/irdr.2020.01028
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Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5'-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2636::ac41bfeaa12d253e48c9cf45ac5ced10
https://hdl.handle.net/10668/3691
https://hdl.handle.net/10668/3691
