Advanced Genetics, Volume 2, Issue 2, June 2021., 2021 Abstract Fragile X syndrome is the most common genetic cause of intellectual disability (ID) and is also well known to have a role in primary ovarian insufficiency (POI) and fragile X‐associated tremor ataxia syndrome (FXTAS) that expresses across generations.
Indhumathi Nagarathinam +6 more
wiley +1 more source
Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
Frontiers in Psychiatry, 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 Fragile X ...
Andrea Elias-Mas +9 more
doaj +1 more source
Fragile X Premutation Associated Conditions (FXPAC)
Frontiers in Pediatrics, 2020 The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation.
Kirsten Johnson +2 more
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Metabolic Alterations in FMR1 Premutation Carriers
Frontiers in Molecular Biosciences, 2020 FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao +6 more
doaj +1 more source
A 68‐year‐old man with gait instability and T2 signal abnormality in the cerebellar peduncles
, 2023 Brain Pathology, Volume 33, Issue 5, September 2023.
Vanessa L. Smith, Shih‐Hsiu J. Wang
wiley +1 more source
Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria. [PDF]
Clin GenetOur study revealed that Nigerian doctors had limited knowledge and perceptions of FXS and FXPAC. However, those with better knowledge showed significantly improved perceptions. Encouragingly, most participants were eager to suggest ways to enhance doctors' understanding and management of these conditions.
Mbachu CNP +11 more
europepmc +2 more sources
The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based? [PDF]
, 2020 The FMR1 gene contains a polymorphic CGG trinucleotide sequence within its 5’ untranslated region. More than 200 CGG repeats (termed a full mutation) underlie the severe neurodevelopmental condition fragile X syndrome, while repeat lengths that range ...
Anderson, Richard A, Rosario, Roseanne
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Scientific Reports, 2022 The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5′ UTR. Alleles with 55–200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include ...
Ye Hyun Hwang +7 more
doaj +1 more source
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency [PDF]
, 2016 STUDY QUESTION: Does repeat-associated non-AUG (RAN) translation play a role in fragile X-associated primary ovarian insufficiency (FXPOI), leading to the presence of polyglycine containing protein (FMRpolyG)-positive inclusions in ovarian tissue ...
Visser, J. A. +29 more
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, 2018 Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages.
Stephanie L. Sherman (88360) +6 more
core +1 more source