Results 31 to 40 of about 40,130 (258)

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

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, Jin-Man Cho, Dong-Hee Kim, Chang-Bum Park, Chong-Jin Kim   +4 more
doaj   +1 more source

Auditory Processing in Fragile X Syndrome

Frontiers in Cellular Neuroscience, 2014
Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication.
Sarah E Rotschafer, Khaleel A Razak
doaj   +1 more source

Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome

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, P.A. Orlova, J.M. Minina, E.M. Shitik, N.A. Lemskaya, I.V. Grishchenko, A.A. Dolskiy, A.R. Shorina, Y.V. Maksimova, D.V. Yudkin, O.L. Serov   +10 more
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Soft, Multi‐Wavelength Photoplethysmography Enables Reliable Neonatal Blood Pressure Monitoring Via Error Stratification

Advanced Science, EarlyView.
A soft hybrid multi‐wavelength PPG wearable acquires neonatal signals. Synchronized PPG and invasive ABP data are segmented into fixed windows. A 1D‐EfficientNet model predicts segment‐level SBP and DBP. Model performance is examined with retrospective subgroup analysis across acquisition conditions.
Wenqi Shi, Lanlan Mi, Jiarong Chen, Biao Liu, Min Wang, Zisheng Dai, Bin Liu, Ruize Gao, Yunfeng Lin, Weiwei Guo, Guoxing Wang, Wenyi Luo, Cheng Chen   +12 more
wiley   +1 more source

Aging in fragile X syndrome [PDF]

Journal of Neurodevelopmental Disorders, 2010
Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women ...
Utari, Agustini, Adams, Evan, Berry-Kravis, Elizabeth, Chavez, Alyssa, Scaggs, Felicia, Ngotran, Lily, Boyd, Antoniya, Hessl, David, Gane, Louise W., Tassone, Flora, Tartaglia, Nicole, Leehey, Maureen A., Hagerman, Randi J.   +12 more
openaire   +4 more sources

Channelopathies in fragile X syndrome

Nature Reviews Neuroscience, 2021
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism. The condition stems from loss of fragile X mental retardation protein (FMRP), which regulates a wide range of ion channels via translational control, protein-protein interactions and second messenger pathways.
Pan-Yue Deng, Vitaly A. Klyachko
openaire   +3 more sources

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
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Dysregulation of the MACF1‐Rab14/KIF16B‐FGFR Vesicular Trafficking Axis Skews MSC Lineage Commitment in Glucocorticoid‐Induced Osteoporosis

Advanced Science, EarlyView.
Under normal conditions, MACF1 interacts with Rab14 and facilitates KIF16B‐mediated FGFR vesicle trafficking along microtubules to the plasma membrane, thereby supporting BMSC differentiation. In contrast, chronic GC exposure suppresses MACF1 expression, disrupting this transport and causing intracellular FGFR retention, which blunts osteogenic ...
Peihong Su, Ye Tian, Fan Zhao, Jing Li, Suryaji Patil, Chunyu Zhu, Yujia Tian, Junrong Wang, Jiating Liu, Aoqi Xiang, Hua Guan, Lusha Zhang, Xiaochang Chen, Airong Qian, Qi Yu   +14 more
wiley   +1 more source

Fragile X Syndrome

Journal of Health Science and Medical Research (JHSMR), 2012
Fragile X syndrome (FXS) is the most common X-linked mental retardation disorder. Most patients are males. In Thailand, the incidence of FXS in boys with mental retardation or delayed development is approximately 7%.
Ninlapa Pruksanusak, Pornprot Limprasert
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