Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Claudine M Kraan"'
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0192151 (2018)
Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions support the pathogenic role of RNA gain of function toxicity in premutation (PM: 55-199 CGGs) related disorders. Real-time PCR
Externí odkaz:
https://doaj.org/article/79418e04da3743dca55b6e65c9a878d9
Autor:
Claudine M. Kraan, Minh Bui, Alison Archibald, Sonia Davison, Rachel C. Cvejic, Sylvia Metcalfe, David J. Amor, Julian N. Trollor, Jonathan Cohen, Kim Cornish
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100829- (2023)
Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an FMR1 premutation (PM) is needed for counseling and primary healthcare. Methods: A questionnaire captu
Externí odkaz:
https://doaj.org/article/e1ac862f3833491fba42b6ceedc03b4f
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:
Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promot
Externí odkaz:
https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958
Autor:
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic uti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe1aad712bb4a2e2b8f25fd39879e43
https://pubmed.ncbi.nlm.nih.gov/36349505
https://pubmed.ncbi.nlm.nih.gov/36349505
Autor:
David E. Godler, Claudine M Kraan, Kishore R. Kumar, Ellenore M Martin, Michael Field, Ying Zhu
Publikováno v:
Journal of Medical Genetics. 59:706-709
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition characterised by cerebellar ataxia and intention tremor, usually found in individuals with FMR1 premutation alleles (PM—CGG expansion of 55–199 repeats). Population stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::836a745cb9ccc667d876ba37ea4effc9
https://doi.org/10.1136/jmedgenet-2021-107758
https://doi.org/10.1136/jmedgenet-2021-107758
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 2, p e0192151 (2018)
PLoS ONE, Vol 13, Iss 2, p e0192151 (2018)
Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions support the pathogenic role of RNA gain of function toxicity in premutation (PM: 55-199 CGGs) related disorders. Real-time PCR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b7d6601b96c6c255de8cdd51690dba
https://pubmed.ncbi.nlm.nih.gov/29474364
https://pubmed.ncbi.nlm.nih.gov/29474364
Autor:
Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-13 (2019)
Abstract Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed
Externí odkaz:
https://doaj.org/article/c8c8fc51efc34be5844911b0781f350c