Results 71 to 80 of about 15,002 (209)
RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]
, 2009 Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core
Expression analysis of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene in FMR1-associated disorders [PDF]
, 2023 The human fragile X messenger ribonucleoprotein 1 (FMR1) gene contains an expansion-prone trinucleotide CGG repeat that alters gene expression, giving rise to various central nervous system (CNS)-centric disorders.
Randol, Jamie Leah
core
Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology
Developmental Dynamics, EarlyView.Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley +1 more source
BMC Medical Genetics, 2012 Background Fragile X syndrome (FXS), the leading cause of inherited mental retardation, is due to expansion and methylation of a CGG sequence in the FMR1 gene, which result in its silencing and consequent absence of FMRP protein. This absence causes loss
Tabolacci Elisabetta +4 more
doaj +1 more source
, 2007 Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
Pook, MA +4 more
core +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Neurobiology of Disease, 2016 Fragile-X syndrome (FXS) is caused by the transcriptional repression of the Fmr1 gene resulting in loss of the Fragile-X mental retardation protein (FMRP).
S.Y. Yau +13 more
doaj +1 more source
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Food Biomacromolecules, EarlyView.Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.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 ...
Amy Schmidmajer +6 more
wiley +1 more source
The FMR1 gene and fragile X‐associated tremor/ataxia syndrome [PDF]
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2009 AbstractThe CGG‐repeat present in the 5′UTR of the FMR1 gene is unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In fragile X patients, a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by ...
Brouwer, JR (Jaap) +2 more
openaire +3 more sources