Fragile X Syndrome

Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation. Discover the latest research on Fragile X syndrome here.

July 1, 2020

Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns
Q F RuanW G Xie
June 15, 2020

Factors impacting the transition to adulthood of youth with fragile X syndrome and their families: Facilitators, obstacles and needs

Research in Developmental Disabilities
Camille Gauthier-BoudreaultMélanie Couture
June 25, 2020

Advances in Human Stem Cells and Genome Editing to Understand and Develop Treatment for Fragile X Syndrome

Advances in Neurobiology
Xinyu Zhao, Anita Bhattacharyya
June 5, 2020
Open Access

Role of fragile X mental retardation protein in chronic pain

Molecular Pain
Xiangyang MeiZhiying Feng
June 2, 2020
Preprint
Open Access

Roadmap to Help Develop Personalized Targeted Treatments for Autism as a Disorder of the Nervous Systems

BioRxiv : the Preprint Server for Biology
Elizabeth B Torres
July 2, 2020
Open Access

Examining the Specificity of Forms and Functions of Aggressive Behavior in Boys With Fragile X Syndrome

American Journal on Intellectual and Developmental Disabilities
Tobias C BrittonScott S Hall
June 5, 2020

Role of acute hemodilution in blood transfusion rate in patients submmited to scoliosis surgery: observational retrospective study

Revista brasileira de anestesiologia
Layana Vieira Nobre, Luis Vicente Garcia
July 1, 2020
Open Access

Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells

Proceedings of the National Academy of Sciences of the United States of America
Lorenza GarribbaYing Liu
June 21, 2020
Open Access

Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns

Molecular Autism
Shreya Das SharmaDavid J A Wyllie
June 21, 2020

FMRP ribonucleoprotein complexes and RNA homeostasis

Advances in Genetics
Gabriela Aparecida Marcondes Suardi, Luciana Amaral Haddad
June 25, 2020
Open Access

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations

Translational Psychiatry
Andrea SchneiderRandi J Hagerman
June 7, 2020

Disentangling autism spectrum and attention-deficit/hyperactivity symptoms over development in fragile X syndrome

Research in Developmental Disabilities
Brianna Ruth DohertyGaia Scerif
May 30, 2020
Case Report
Open Access

Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series

Biomedicines
Maria Jimena Salcedo-ArellanoRandi J Hagerman

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