Results 81 to 90 of about 2,751,167 (169)

Single‐Cell Integration of Mouse Models of Autism Reveals Conserved Transcriptomic Signatures of Excitatory‐Inhibitory Imbalance and Glial Dysfunction

Glia, Volume 74, Issue 12, December 2026.
Integrated scRNA‐seq from 11 ASD models reveals convergent E/I imbalance and glial dysfunction. Conserved astrocyte and oligodendrocyte dysregulation transcend model‐specific variability. Validated by human datasets. ABSTRACT The etiological heterogeneity of autism spectrum disorder (ASD) complicates identifying core molecular mechanisms.
João V. Nani, Victor J. Duque, Alysson R. Muotri, André S. Mecawi   +3 more
wiley   +1 more source

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

Cell Reports, 2015
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park, Tomer Halevy, Dongjin R. Lee, Jin Jea Sung, Jae Souk Lee, Ofra Yanuka, Nissim Benvenisty, Dong-Wook Kim   +7 more
doaj   +1 more source

BOULE is Essential for the Dynamic Disassembly of Heat Shock Granules in Male Germ Cells

Advanced Science, Volume 13, Issue 61, 3 November 2026.
BOULE orchestrates stress granule disassembly in germ cells via a two‐pronged mechanism: it promotes G3BP1 ubiquitination by upregulating TRIM27, generating a signal for VCP/FAF2 recruitment, and it maintains G3BP1 and FAF2 protein levels. BOULE deficiency disrupts disassembly complex formation, leading to impaired heat shock granule clearance ...
Xin Li, Nana Zhang, Zexin Bian, Baobao Geng, Liyun Cao, Peipei Liu, Zengming Li, Yan Zhao, Jun Tan   +8 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Alternative splicing of the FMR1 gene in human tissues of fetal and adult

, 1999
To study the time- and tissue-specificity of alternative splicing of the FMR1 gene, we analyzed the alternative splicing pattern of the FMR1 gene in human tissues from adult and fetus using RT-PCR coupled with capillary electrophoresis. Seven alternative
Li, LY, Zhu, NN, Liu, EL, Shen, Y, Kan, D, Xu, Q, Fan, Y, Han, FT, Wu, GY, Lin, BC   +9 more
core  

Circular RNA SMAD4 coordinates with m6A‐dependent IGF2BP2 to promote gallbladder cancer development

Clinical and Translational Medicine, Volume 16, Issue 11, November 2026.
• circSMAD4 is upregulated in GBC and is associated with poor survival. • IGF2BP2 promotes circSMAD4 biogenesis through m6A‐dependent recognition mediated by its KH3‐KH4 domains. • circSMAD4 and IGF2BP2 reciprocally stabilize each other, forming a positive feedback loop that activates JAK2/STAT3 signalling and EMT.
Yiming Li, Yayun Xu, Yuan Zhang, Si Gao, Lili Gao, Zhiqing Yuan, Ziyi Wang, Shimei Qiu, Peipei Xu, Yuanding Liu, Zhaonan Liu, Huijie Miao, Hang Xu, Maolan Li, Rong Shao, Yingbin Liu   +15 more
wiley   +1 more source

Are UK Research Priorities Aligned? Comparing the Research Priorities of the Down Syndrome, Fragile X Syndrome and Williams Syndrome Communities, With the Research and Funding Landscape

Mind, Brain, and Education, Volume 20, Issue 4, November 2026.
ABSTRACT There is a lack of understanding of how research activity in learning disability compares with community research priorities in the United Kingdom, where an estimated 1.5 million people live with a learning disability. Using Down syndrome (DS), Fragile X syndrome (FXS) and Williams syndrome (WS) as model conditions with learning disability, we
Laura Cristescu, Elizabeth Pellicano, Gaia Scerif, Jo Van Herwegen, Emily K. Farran   +4 more
wiley   +1 more source

Additional file 1 of Connecting DCX, COMT and FMR1 in social behavior and cognitive impairment

, 2022
Additional file 1: Workbook S1.
Anna Delprato (12572068), Emily Xiao (10703239), Devika Manoj (12572071)   +2 more
core   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family. [PDF]

Front Genet, 2023
Jin C, Zhang X, Lei Q, Chen P, Hu H, Shen S, Liu J, Ye S.   +7 more
europepmc   +1 more source

Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome

Brain Sciences, 2019
More than ~200 CGG repeats in the 5′ untranslated region of the FMR1 gene results in transcriptional silencing and the absence of the FMR1 encoded protein, FMRP.
Daman Kumari, Inbal Gazy, Karen Usdin
doaj   +1 more source