Results 11 to 20 of about 503,381 (321)

Drugs development and fragile X syndrome translational success story [PDF]

Medicinski Podmladak, 2016
nema
Budimirović Dejan, Protić Dragana
doaj   +1 more source

Repeated whole-cell patch-clamp recording from CA1 pyramidal cells in rodent hippocampal slices followed by axon initial segment labeling

STAR Protocols, 2021
Summary: This protocol allows repeated whole-cell patch-clamp recordings from individual rodent CA1 hippocampal neurons, followed by immunohistological labeling of the axon initial segment.
Laura S. Oliveira, Anna Sumera, Sam A. Booker   +2 more
doaj   +1 more source

Fragile X Premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult ...
Tassone, Flora, Hagerman, Paul J, Hagerman, Randi J   +2 more
openaire   +4 more sources

Developmental aspects of FXAND in a man with the FMR1 premutation. [PDF]

, 2020
BackgroundFragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
Emeka-Nwonovo, Chinelo, Hagerman, Paul, Hagerman, Randi, Santos, Ellery, Schneider, Andrea, Tassone, Flora, Wang, Jun Yi   +6 more
core   +1 more source

Fragile X Syndrome [PDF]

Current Genomics, 2011
Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism.
McLennan, Yingratana, Polussa, Jonathan, Tassone, Flora, Hagerman, Randi   +3 more
openaire   +4 more sources

Cardiovascular Problems in the Fragile X Premutation

Frontiers in Genetics, 2020
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. [PDF]

, 2018
To uncover the circuit-level alterations that underlie atypical sensory processing associated with autism, we adopted a symptom-to-circuit approach in the Fmr1-knockout (Fmr1-/-) mouse model of Fragile X syndrome.
A Contractor, A Estes, A Mullard, Aditi Newadkar, Anubhuti Goel, B Zupan, Barbara Todisco, BN Armbruster, BV Atallah, C He, CA Runyan, Carlos Portera-Cailliau, CD Harvey, CE Robertson, CM Niell, Craig A. Erickson, CS Kogan, CS Kogan, CX He, Daniel A. Cantu, Diego de Alba, Ernest Pedapati, F Farzin, G Fata La, Gunvant R. Chaudhari, HA Zariwala, HK Kato, IS Knoth, J Akerboom, J Poort, Janna Guilfoyle, JC Cottam, JJ LeBlanc, JM Pakan, JP Hamm, JT Gonçalves, K Juczewski, K Plaisted, L Pinto, Lauren M. Schmitt, M Dipoppa, M Rifé, MT Arnett, Nazim Kourdougli, PJ Mineault, SB Hofer, SH Lee, SR Hooper, TA Pologruto, The Dutch-Belgian Fragile X Consortium., TW Chen, Y Gonchar, Y Zhang, ZV Guo   +53 more
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A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]

, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources