Results 21 to 30 of about 503,381 (321)

Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses [PDF]

, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Milo Careaga, Destanie Rose, Flora Tassone, Robert F. Berman, Randi J. Hagerman, Paul Ashwood   +5 more
openalex   +5 more sources

Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome [PDF]

, 2012
Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain.
DiPatrizio, Nicholas V., Frick, Andreas, Ginger, Melanie, Henstridge, Christopher M., Jung, Kwang-Mook, Katona, Istvan, Lassalle, Olivier, Mackie, Ken, Manzoni, Olivier J., Martin, Henry, Neuhofer, Daniela, Piomelli, Daniele, Sepers, Marja   +12 more
core   +6 more sources

Fragile X syndrome: Lessons learned from the most translated neurodevelopmental disorder in clinical trials

Translational Neuroscience, 2017
Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human ...
Duy Phan Q., Budimirovic Dejan B.
doaj   +1 more source

Chloride imbalance in Fragile X syndrome

Frontiers in Neuroscience, 2022
Developmental changes in ionic balance are associated with crucial hallmarks in neural circuit formation, including changes in excitation and inhibition, neurogenesis, and synaptogenesis.
Kaleb Dee Miles, Caleb Andrew Doll
doaj   +1 more source

Manifestaciones neurológicas en el adulto con premutación X frágil [PDF]

, 2010
Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
Cabanyes-Truffin, J. (J.)
core   +1 more source

Clinical and molecular correlates in fragile X premutation females. [PDF]

, 2017
The prevalence of the fragile X premutation (55-200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
AlOlaby, Reem R, Chutabhakdikul, Nuanchan, Durbin-Johnson, Blythe, Espinal, Glenda M, Hagerman, Paul J, Hagerman, Randi J, Hessl, David, Jiraanont, Poonnada, Rivera, Susan M, Schneider, Andrea, Silva, Marisol, Sweha, Stefan R, Tang, Hiu-Tung, Tassone, Flora   +13 more
core   +2 more sources

Fragile X Syndrome Recognition

Pediatric Neurology Briefs, 1989
The clinical characteristics of 20 children younger than 7½ years of age with the fragile X syndrome were reviewed at the Cincinnati Center for Developmental Disorders, Children’s Hospital Medical Center, University of Cincinnati College of Medicine ...
J Gordon Millichap
doaj   +1 more source

A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome

Journal of Neurodevelopmental Disorders, 2019
Background Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder.
Helen Heussler, Jonathan Cohen, Natalie Silove, Nancy Tich, Marcel O. Bonn-Miller, Wei Du, Carol O’Neill, Terri Sebree   +7 more
doaj   +1 more source

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]

PLoS ONE, 2015
Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy   +11 more
doaj   +1 more source

New distal marker closely linked to the fragile X locus [PDF]

, 1991
We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466.
Broersen, A. (Alexander), Hulsebos, T. (Theo), Oost, B.A. (B.) van, Oostra, B.A. (Ben), Smits, A., Westerveld, A. (Andries)   +5 more
core   +1 more source