Results 61 to 70 of about 109,973,714 (148)

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

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Initial Review of Government‐Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome

Prenatal Diagnosis, EarlyView.
Paul A. Scuffham, Edwin P. Kirk, Martin B. Delatycki, Martin Downes, Nigel G. Laing   +4 more
wiley   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, Volume 3, Issue 3, September 2026.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj   +1 more source

RNA‐Protein Assemblies: A Review of Biophysical Principles and Coarse‐Grained Modeling Approaches

WIREs RNA, Volume 17, Issue 5, September/October 2026.
RNA‐protein assemblies in the nucleolus, nuclear speckles, and viral ribonucleoprotein complexes are governed by multivalent IDR‐RNA interactions that drive liquid–liquid phase separation. This review examines the molecular grammar underlying these systems and critically evaluates coarse‐grained computational frameworks for modeling their sequence ...
Muhammad Waleed Iqbal, Patrick R. Onck
wiley   +1 more source

Targeting m6A Modifications Regulating Ferroptosis Offers Novel Therapy in Diseases

Cell Proliferation, Volume 59, Issue 9, September 2026.
m6A RNA modification regulates ferroptosis by balancing iron metabolism, lipid peroxidation, and antioxidant defenses. Dysregulated m6A signaling disrupts pro‐ and anti‐ferroptotic factors, leading to excess ROS, Fe3+ accumulation, and lipid peroxidation–driven cell death. Targeting m6A‐mediated ferroptotic regulation represents a promising therapeutic
Lida Du, Joshua S. Fleishman, Shuang Wu, Yuan Zhou, Clara X. Wang, Haitong Wang, Yumin Wang, Hongquan Wang   +7 more
wiley   +1 more source

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome [PDF]

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 ...
Randi J. Hagerman, Ellery Santos, Flora Tassone, Schneider, Andrea, Santos, Ellery, YeEun Tak, Randol, Jamie Leah, Tak, YeEun, Hagerman, Randi J, Tassone, Flora, Hagerman, Paul, Andrea Schneider, Jamie Leah Randol, Paul Hagerman   +13 more
core   +1 more source

A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice

Scientific Data
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. FXS patients exhibit autistic behaviors and abnormal brain structures, with notable sex differences.
Sara Ebrahimiazar, Takako Kikkawa, Yohei Minakuchi, Satoshi Miyashita, Shyu Manabe, Mikio Hoshino, Atsushi Toyoda, Noriko Osumi   +7 more
doaj   +1 more source

Aberrant Neural Entrainment to Word‐Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit

Autism Research, Volume 19, Issue 8, August 2026.
ABSTRACT Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder, causes significant language and cognitive impairments. Statistical learning refers to the ability to extract patterns from sensory input through mere exposure and plays a central role in language acquisition.
Laura J. Batterink, Yanchen Liu, Grace Westerkamp, Jae Citarella, Peyton Siekierski, Lynxie Voorhees, Lauren E. Ethridge, Elizabeth Smith, Rana Elmaghraby, Craig A. Erickson, Zag ElSayed, Anubhuti Goel, Steve W. Wu, Ernest V. Pedapati   +13 more
wiley   +1 more source