Results 21 to 30 of about 40,130 (258)

Screening for fragile X syndrome.

Health Technology Assessment, 1997
: BACKGROUND AND AIM OF REVIEW. In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood.
Murray, Cuckle, Taylor, Hewison
doaj   +1 more source

Developmental studies in fragile X syndrome

Journal of Neurodevelopmental Disorders, 2020
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak, Kelli C. Dominick, Craig A. Erickson   +2 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

Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

Nature Communications, 2022
Dysregulated protein synthesis is key contributor to Fragile X syndrome. Here the authors identify a relationship between ribosome expression and the translation of long mRNAs that contributes to synaptic weakening in a model of Fragile X syndrome.
Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil   +11 more
doaj   +1 more source

Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

Genetics and Molecular Biology, 2002
Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain.
Yolanda de Diego, Abdelkrim Hmadcha, Francisco Moron, Miguel Lucas, Mercedes Carrasco, Elizabeth Pintado   +5 more
doaj   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Frontiers in Genetics, 2023
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

A Printed Hydrogel Hybrid Electronic System With Thermoresponsive Adhesion for Neurophysiological Monitoring

Advanced Science, EarlyView.
This work develops a soft hybrid electronic system with printed thermoresponsive hydrogel electrodes, which enables high‐fidelity neural signal acquisition and stimulation. The system precisely assesses median and ulnar nerve injuries in clinical cases, realizing accurate diagnosis of neural impairment while ensuring customized adhesion regulation ...
Bo Pang, Ganguang Yang, Jiacheng Wen, Hangyu Gong, Caixin Gong, Yuqi Qiu, Zhixin Wang, Qingyang Zheng, Sen Zhou, Tianzhao Bu, Jia Tian, Zhouping Yin, Yutian Liu, Hao Wu   +13 more
wiley   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source