Results 41 to 50 of about 815 (125)
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
core +1 more source
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
Tyrosine Peptides Alleviates Multifaceted Toxicity Linked to Expanded CGG Repeats in Fragile X‑Associated Tremor/Ataxia Syndrome. [PDF]
ACS Pharmacol Transl SciFragile X-associated Tremor/Ataxia Syndrome (FXTAS)/Fragile X-associated Primary Ovarian Insufficiency (FXPOI) are conditions caused by an elevated level of CGG repeats in the 5\u2032 untranslated region (5\u2032-UTR) of the Fragile X Mental Retardation ...
Singh K +4 more
europepmc +2 more sources
, 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
BMC Neurology, 2020 Background Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a “premutation (PM)” in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of
Cuiping Zhao +6 more
doaj +1 more source
, 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
Frontiers in Neuroscience, 2018 We conducted a knowledge, attitude, and practice (KAP) survey of fragile X-associated disorders (FXD) in Serbia in order to obtain baseline quantitative and qualitative KAP data on fragile X mental retardation 1 gene (FMR1) pre- and full mutations (PM ...
Dejan B. Budimirovic +4 more
doaj +1 more source
Fragile X-Associated Neuropsychiatric Disorders (FXAND)
Frontiers in Psychiatry, 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.
Randi J. Hagerman +11 more
doaj +1 more source
The FEBS Journal, Volume 293, Issue 20, Page 6155-6175, October 2026.Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano +10 more
wiley +1 more source
Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia [PDF]
, 2019 Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder.
Randi J. Hagerman +17 more
core +1 more source