Results 21 to 30 of about 5,990,156 (184)

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers. [PDF]

Genes (Basel), 2022
Background: The fragile X premutation carrier state (PM) (55–200 CGG repeats in the fragile X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions, including fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor ataxia (FXTAS), with current literature largely primarily investigating older ...
Aishworiya R, Protic D, Tang SJ, Schneider A, Tassone F, Hagerman R.   +5 more
europepmc   +5 more sources

BC RNA Mislocalization in the Fragile X Premutation. [PDF]

eNeuro, 2018
AbstractFragile X premutation disorder is caused by CGG triplet repeat expansions in the 5′ untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2.
Muslimov IA, Eom T, Iacoangeli A, Chuang SC, Hukema RK, Willemsen R, Stefanov DG, Wong RKS, Tiedge H.   +8 more
europepmc   +4 more sources

The Fragile-X Premutation: A Maturing Perspective [PDF]

The American Journal of Human Genetics, 2004
Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ...
Hagerman, Paul J., Hagerman, Randi J.
openaire   +2 more sources

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion

Frontiers in Neurology, 2023
ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis, Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Tamar Kowal, Sivan David, Yonit Banet-Levi, Shahar Shefer, Daniel Gabis, Dana Mula-Topf, Michal Avrech Bar, Orit Bart, Osnat Segal   +13 more
doaj   +1 more source

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

, 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 leading to
Melissa Raspa (7534802), Emily Graves Allen (11509864), Reymundo Lozano (4533649), Katharine Shelly (17286910), Dejan B Budimirovic (17286874), Brett Dufour (17286877), Molly Losh (5120810), Federica Alice Maria Montanaro (14654654), Jessica Klusek (11526796), Peter K Todd (17286913), Marsha R Mailick (5822288), Nicola Elvassore (121419), Karen Lipworth (17286892), Ted W Brown (17286871), Deborah A Hall (16054376), Dragana Protic (5777135), Flora Tassone (207299), Robert M Miller (17286898), Veronica Martinez-Cerdeno (17286895), Jessica Ezzell Hunter (11509870), Peng Jin (216301), Abigail Hogan (5120813), Rachel Eiges (216104), R Frank Kooy (17286886), Cecilia Laterza (4821909), Marwa Zafarullah (12527002), Matthew W Mosconi (17286901), Katarzyna Tutak (17286916), Danuta Loesch-Mdzewska (9478565), Jun Yi Wang (2805190), Lidia V Gabis (17286880), Poonnada Jiraanont (12526993), Sarah Nelson Potter (17286904), Samantha J Grudzien (17286883), Apostolos Manolopoulos (6596681), Jonathan Cohen (26835), David Hessl (2805181), Yingratana McLennan (6587582), Susan M Rivera (17286907), Anna Baud (3719770), Alison D Archibald (17286868), Andrea Lee (7519388), Anne Wheeler (14514257), Tri Indah Winarni (3826342), Claudine M Kraan (17286889), Randi J Hagerman (17286919)   +45 more
core   +2 more sources

Broad Autism Spectrum and Obsessive–Compulsive Symptoms in Adults With the Fragile X Premutation [PDF]

Clinical Neuropsychologist, 2016
Randi J. Hagerman, Emilio Ferrer, David Hessl   +2 more
exaly   +2 more sources

Amygdala dysfunction in men with the fragile X premutation [PDF]

Brain, 2007
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
David, Hessl, Susan, Rivera, Kami, Koldewyn, Lisa, Cordeiro, John, Adams, Flora, Tassone, Paul J, Hagerman, Randi J, Hagerman   +7 more
openaire   +2 more sources

Fragile X Premutation With Atypical Symptoms at Onset [PDF]

Archives of Neurology, 2006
To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes.Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal
CELLINI, ELENA, FORLEO P, GINESTRONI, ANDREA, NACMIAS, BENEDETTA, TEDDE, ANDREA, BAGNOLI, SILVIA, MASCALCHI, MARIO, SORBI, SANDRO, PIACENTINI, SILVIA   +8 more
openaire   +3 more sources

Abnormal Trajectories in Cerebellum and Brainstem Volumes in Carriers of the Fragile X Premutation [PDF]

Neurobiology of Aging, 2017
Randi J. Hagerman, Emilio Ferrer, Jun Yi Wang   +2 more
exaly   +2 more sources

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
The third‐generation sequencing was used to detect the FMR1 gene, whose abnormalities are the primary causes of fragile X syndrome (FXS). Finally, a mutation database of the FMR1 gene in Shandong, China was established and provided prenatal diagnosis and genetic counseling for relevant individuals.
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +2 more sources