Results 61 to 70 of about 225,713 (333)
Science Translational Medicine, 2020 Selective inhibition of GSK3α corrects diverse impairments in the Fmr1−/y mouse model of fragile X syndrome. Blocking GSK3α in a fragile X mouse model Fragile X syndrome is a heritable cause of autism and intellectual disability.
Patrick K. McCamphill +16 more
semanticscholar +1 more source
Advanced Materials Technologies, EarlyView.This review explores the integration of microfluidic technology with organoid systems as an innovative platform for studying menopausea complex multi‐organ condition. By enabling precise simulation of inter‐organ communication and hormone responses, microfluidic organoids offer a physiologically relevant model for investigating menopausal syndrome and ...
Qianyi Zhang +4 more
wiley +1 more source
Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
Frontiers in Genetics, 2023 Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin +7 more
doaj +1 more source
Ovarian Matrisome Dynamics and αvβ3‐Mediated Regulation in Early Follicular Development
Advanced Science, EarlyView.The matrisome undergoes dynamic remodeling during early follicular development. Integrin αvβ3 mediates matrisome signals, regulating primordial follicle activation/atresia and secondary follicle growth via Hippo/mTOR pathways, with conserved roles in human ovaries, offering therapeutic targets for ovarian disorders.
Tong Wu +12 more
wiley +1 more source
Narrative language competence in children and adolescents with Down syndrome [PDF]
, 2015 This study was designed to examine the narrative language abilities of children and adolescents with Down syndrome in comparison to same-age peers with fragile X syndrome and younger typically developing children matched by nonverbal cognitive ability ...
Andrea S McDuffie +4 more
core +2 more sources
Advanced Science, EarlyView.This research deciphers the m6A transcriptome by profiling its sites and functional readout effects: from mRNA stability, translation to alternative splicing, across five different cell types. Machine learning model identifies novel m6A‐binding proteins DDX6 and FXR2 and novel m6A reader proteins FUBP3 and L1TD1.
Zhou Huang +11 more
wiley +1 more source
Astrocytes in fragile X syndrome
Frontiers in Cellular NeuroscienceAstrocytes have an important role in neuronal maturation and synapse function in the brain. The interplay between astrocytes and neurons is found to be altered in many neurodevelopmental disorders, including fragile X syndrome (FXS) that is the most ...
Karo Talvio, Maija L. Castrén
doaj +1 more source
Early Diagnosis of Fragile X Syndrome
Pediatric Neurology Briefs, 2003 Surveys from 274 families with at least one child with fragile X syndrome (FXS) were used to determine factors associated with the discovery of the diagnosis in a study at the University of North Carolina, Chapel Hill, NC.
J Gordon Millichap
doaj +1 more source
Stem Cell Research, 2020 Expansion over 200 CGG repeats in FMR1 gene causes inherited intellectual disability or autism spectrum disorder named as fragile X syndrome. Despite the known cause fragile X syndrome pathogenesis has not been specified yet. The ICGi026-A iPSCs line was
M.M. Gridina +10 more
doaj +1 more source
Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome [PDF]
Kosin Medical Journal, 2017 We report a case of Spontaneous coronary artery dissection associated with fragile X syndrome. The relationship between fragile X syndrome and Spontaneous coronary artery dissection is unclear.
Hyun-Young Park +4 more
doaj +1 more source