Results 21 to 30 of about 815 (125)

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders [PDF]

Frontiers in Genetics, 2014
The Fragile X-related disorders are a group of genetic conditions that include the neurodegenerative disorder, Fragile X-associated tremor and ataxia syndrome (FXTAS), the fertility disorder, Fragile X-associated primary ovarian insufficiency (FXPOI) and
Karen eUsdin, Bruce Eliot Hayward, Daman eKumari, Rachel Adihe Lokanga, Rachel Adihe Lokanga, Nicolas eSciascia, Xiao-Nan eZhao   +6 more
doaj   +2 more sources

Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations [PDF]

Frontiers in Molecular Neuroscience, 2017
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism.
Limor Man, Jovana Lekovich, Zev Rosenwaks, Jeannine Gerhardt   +3 more
doaj   +2 more sources

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy [PDF]

Orphanet Journal of Rare Diseases
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.
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari   +8 more
doaj   +2 more sources

Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI)

Apollo Medicine, 2023
Anitha Saminathan, Kalpana Gowrishankar, Indhumathi Nagarathinam   +2 more
doaj   +2 more sources

FXTAS and the Spectrum of FMR1 Premutation-Associated Phenotypes in Latin America: A Scoping Review. [PDF]

Mov Disord Clin Pract
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Schmidmajer A, Páez-García S, Martínez S, Ramírez-Triana J, O'Hara-Veintimilla K, Ricaurte-Fajardo A, Cerquera-Cleves C.   +6 more
europepmc   +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

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System. [PDF]

Neuropathology
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Shioya A, Ishii K, Sato T, Noguchi M, Tamaoka A, Saito Y.   +5 more
europepmc   +2 more sources

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age. [PDF]

Am J Med Genet B Neuropsychiatr Genet
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Klusek J, Jenner L, Hogan AL, Friedman L, Berry-Kravis E, Tassone F, Adayev T, Fairchild AJ, Roberts JE.   +8 more
europepmc   +2 more sources

Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation

Frontiers in Psychiatry, 2021
Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS ...
Emily Graves Allen, Krista Charen, Heather S. Hipp, Lisa Shubeck, Ashima Amin, Weiya He, Jessica Ezzell Hunter, Katharine E. Shelly, Stephanie L. Sherman   +8 more
doaj   +1 more source

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation [PDF]

, 2021
Objective: To identify modifying genes that explains the risk of fragile X-associated primary ovarian insufficiency (FXPOI). Design: Gene-based, case/control association study, followed by a functional screen of highly ranked genes using a Drosophila ...
DA Hall (17798570), SL Sherman (14647160), ST Warren (21935624), P Jin (13497208), L Shubeck (21935591), C Welt (21935621), DJ Cutler (21935603), M Mila (21935609), Y Liu (4702669), JN Macpherson (21825977), HS Hipp (21935594), EG Allen (21935627), MA Leehey (21935618), K Charen (21935588), JC Rounds (21935585), MP Epstein (10646804), CE Trevino (21935582), HR Johnston (21935600), A Murray (7690343), ME Zwick (21935606), L Rodriguez-Revenga (21935612), JB Spencer (21935597), E Berry-Kravis (21935615)   +22 more
core   +2 more sources