Results 21 to 30 of about 5,818,395 (361)

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

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

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

The fragile X syndrome

Clinical Science, 1992
An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through the methylation of the FMR-1 HTF island and the region of cytogenetic fragility. The direct analysis of
Hirst, M, Knight, S, Bell, M, Super, M, Davies, K   +4 more
  +11 more sources

A native function for RAN translation and CGG repeats in regulating Fragile X protein synthesis

Nature Neuroscience, 2020
Repeat-associated non-AUG-initiated translation of expanded CGG repeats (CGG RAN) from the FMR1 5′-leader produces toxic proteins that contribute to neurodegeneration in fragile X-associated tremor/ataxia syndrome.
Caitlin M. Rodriguez, Shannon E Wright, Michael G. Kearse, Jill M. Haenfler, Brittany N. Flores, Yu Liu, Marius F Ifrim, M. R. Glineburg, Amy Krans, P. Jafar‐nejad, M. A. Sutton, G. Bassell, J. Parent, F. Rigo, S. Barmada, Peter K. Todd   +15 more
semanticscholar   +1 more source

Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome

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, Laura J Stoppel, R. Senter, Michael C. Lewis, A. Heynen, David C. Stoppel, V. Sridhar, K. A. Collins, Xi Shi, Jen Q. Pan, J. Madison, Jeffrey R. Cottrell, K. Huber, E. Scolnick, E. Holson, F. Wagner, M. Bear   +16 more
semanticscholar   +1 more source

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

Fragile X syndrome [PDF]

European Journal of Human Genetics, 2008
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B. Garber, Jeannie Visootsak, Stephen T. Warren   +2 more
openaire   +2 more sources

The fragile X syndrome. [PDF]

Journal of Medical Genetics, 1998
The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis.
Ben A. Oostra, B. B. A. De Vries, M. F. Niermeijer, D. J. J. Halley   +3 more
openaire   +3 more sources

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]

, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Aydin, Elber Yuksel, Hagerman, Randi J, Martínez-Cerdeño, Veronica, Perlman, Susan, Protic, Dragana, Schneider, Andrea, Tang, Hiu-Tung, Tassone, Flora, Wang, Jun Yi   +8 more
core   +2 more sources

Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development [PDF]

, 1998
The fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and expanding trinucleotide CGG repeat located in the 5'-untranslated region ...
Bakker, C.E. (Cathy), Grootegoed, J.A. (Anton), Kant, H.J.G. (Henk) van de, Oostra, B.A. (Ben), Rooij, D.G. de, Slegtenhorst-Eegdeman, K.E., Themmen, A.P.N. (Axel), Verhoef-Post, M. (Miriam)   +7 more
core   +6 more sources