Results 111 to 120 of about 244,000 (312)

EIF5A Couples Translational Control With Transcriptional Reprogramming Through Chromocenter Reorganization During Spermiogenesis

Advanced Science, EarlyView.
The translation factor Eukaryotic translation initiation factor 5A (eIF5A) is essential for male fertility in mice. It supports the translation of proteins crucial for heterochromatin organization and acrosome formation. eIF5A deficiency disrupts chromocenter integrity, increases chromatin accessibility, and causes transcriptional dysregulation ...
Yuling Cai, Tongtong Li, Qian Fang, Ziyou Bao, Feng Kong, Huitao Qi, Hanzhen Li, Mingyu Zhang, Wei Wang, Yongxia Guan, Wenbo Liu, Xiangfeng Chen, Zi‐Jiang Chen, Xiaohua Jiang, Xin Wang, Hongbin Liu   +15 more
wiley   +1 more source

Comparative Single‐Cell Transcriptomic Atlas Reveals the Genetic Regulation of Reproductive Traits

Advanced Science, EarlyView.
A cross‐species single‐cell transcriptomic atlas of reproductive and central nervous system tissues from sheep and humans reveals conserved cellular programs and regulatory networks that regulated fertility. Integration with GWAS for sheep lifetime average litter size identifies UNC5–SLIT–BMP signaling as a core pathway coordinating neuroendocrine ...
Bingru Zhao, Hanpeng Luo, Dailu Guan, Xuefeng Fu, Feng Wang, Guoming Zhang, Shanglai Li, Hua Yang, Yanli Zhang   +8 more
wiley   +1 more source

Harnessing Large Language Models to Advance Microbiome Research: From Sequence Analysis to Clinical Applications

Advanced Intelligent Discovery, EarlyView.
Large language models are transforming microbiome research by enabling advanced sequence profiling, functional prediction, and association mining across complex datasets. They automate microbial classification and disease‐state recognition, improving cross‐study integration and clinical diagnostics.
Jieqi Xing, He Wang, Yangyang Sun, Xiaoquan Su, Shunyao Wu   +4 more
wiley   +1 more source

Parent training tailored for parents with ADHD: a randomized controlled trial

BMC Psychiatry
Background Parents who themselves have Attention-Deficit/Hyperactivity Disorder (ADHD) tend to benefit less from conventional parent training (PT) interventions than parents without ADHD, reporting suboptimal effects on both parenting-related outcomes ...
Therese Lindström, Sofia Buddgård, Lena Westholm, Martin Forster, Sven Bölte, Tatja Hirvikoski   +5 more
doaj   +1 more source

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, EarlyView.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph, Hershey, Tamara, Marshall, Bess, Neyman, Olga, Park, Ki Yun, Rahn, Rachel, Samara, Ahmad, Samara, Amjad   +7 more
core   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
doaj   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +1 more source