Results 161 to 170 of about 236,633 (310)

Multi‐Omics Insights Into the Mechanisms of Early Muscle Fiber Difference and Transformation Between Lean‐Type and Chinese Indigenous Pigs

Advanced Science, EarlyView.
Multi‐omics analyses uncover breed‐specific cis‐regulatory landscapes and higher‐order chromatin architectural differences that underlie early postnatal muscle fiber divergence in pigs. A super‐enhancer upstream of PPP3CB recruits MEF2C to activate PPP3CB transcription, while the PPP3CB–MEF2C positive feedback loop promotes oxidative muscle fiber ...
Shuailong Zheng, Hainan Wu, Min Liu, Kunpeng Wu, Shuntao Huang, Zulfiqar Ahmed, Lenox Pius, Mengjin Zhu, Dequan Xu   +8 more
wiley   +1 more source

Introgressed Variation in TaMYB7‐A1 Drives Graded Dormancy and Climate‐Adaptive Pre‐Harvest Sprouting Resistance in Wheat

Advanced Science, EarlyView.
TaMYB7‐A1 directly activates TaABI5 to enhance ABA signaling and regulate ABA‐GA homeostasis, enforcing seed dormancy. Its superior allele, derived from wild einkorn introgression, harbors a MITE insertion that elevates expression and two amino acid substitutions that enhance transcriptional activity, collectively generating graded PHS resistance for ...
Hao Wang, Dongzhi Wang, Yafei Guo, Qi Zheng, Min Zhang, James Simmonds, Jian Hou, Xuemei Liu, Xuelei Lin, Xiaomin Bie, Xiansheng Zhang, Xiaohui Li, Yuan Chen, Xueyong Zhang, Cristobal Uauy, Fei Lu, Chengcai Chu, Zhixi Tian, Jun Xiao   +18 more
wiley   +1 more source

Fine‐Tuned Regulation of mRNA Translation and Transport by STAU2 Condensate Facilitates Neuronal Development and Plasticity

Advanced Science, EarlyView.
STAU2 undergoes phase separation to form dynamic condensates that package target mRNAs and deliver them to the distal ends of growing neuronal dendrites. STAU2 condensates stabilize embedded mRNAs and repress their translation. Synaptic activity bidirectionally remodels STAU2 condensates, coordinating local translation of STAU2‐associated mRNAs ...
Shijing Huang, Yuanyuan Chu, Ruiqian Zhao, Siyu Li, Yu Feng, Hongdan Zheng, Yunli Xie, Tong Wang, Wenyu Wen   +8 more
wiley   +1 more source

The Chromosome Disorders [PDF]

Postgraduate Medical Journal, 1966
openaire   +1 more source

SETD1A Regulates Glycolysis and Senescence of Nucleus Pulposus Cells via H3K4me3–HELZ2/PPARα‐HIF1α Axis to Drive Intervertebral Disc Degeneration

Advanced Science, EarlyView.
SETD1A is a key epigenetic regulator in NPCs during IDD. In normal NPCs, it sustains H3K4me3–HELZ2/PPARα–HIF1α signaling to maintain glycolytic energy metabolism and proliferation. In degenerated NPCs, reduced SETD1A disrupts this axis, impairing glycolysis and accelerating senescence, highlighting a promising therapeutic target for IDD.
Jiawei Fu, Xue Leng, Jiang Long, Zhengao Liao, Xiaoqin An, Xuezheng Ai, Dan Long, Changqing Li, Bo Huang, Yue Zhou, Shiwu Dong, Chencheng Feng   +11 more
wiley   +1 more source

The Landscape and Regulation of Histone Crotonylation in Mammalian Gametes and Early Embryos

Advanced Science, EarlyView.
Histone crotonylation undergoes a genome‐wide transition from broad domains to canonical narrow peaks during minor zygotic genome activation (ZGA). This remodeling is required for proper major ZGA and blastocyst formation. Disruption of this transition by transcriptional inhibition, metabolic perturbation, or HDAC1 dysfunction impairs embryonic ...
Shenli Yuan, Yelian Yan, Yalin Liang, Kanghua Zhong, Zhican Fu, Xiaobo Wang, Chao Liu, Tao Huang, Keliang Wu   +8 more
wiley   +1 more source

"Give me a name for what is wrong with him" : a case study of a rare chromosome disorder

, 2006
The case is presented of a young boy with a rare chromosome disorder involving an interstitial deletion on chromosome 16 (16q11.2q13). Background information on chromosome disorders is presented along with a review of previous findings about the ...
Gilmore, Linda, Campbell, Marilyn
core  

Seeing Clowns with a Ring 20 Chromosome

Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity.
İrem İlgezdi Kaya, Tuğba Kalaycı, Nerses Bebek, Haşim Gezegen, Betül Baykan, Birsen Karaman, Nermin Görkem Şirin   +6 more
core   +1 more source

The Polymers of Life: Exploring Cellular Function Through Polymer Concepts

Advanced Science, EarlyView.
Biomolecular phase separation reveals that a hidden layer of cellular organization is governed by the principles of polymer science. This review bridges polymer physics and cell biology, offering a primer on fundamental concepts, proposing a framework for interrogating cellular function, and synthesizing biophysical methods for decoding macromolecular ...
Mark Chen, Ashutosh Chilkoti
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source