Results 151 to 160 of about 462,672 (344)

Induced Chromosome 5G2 Deletions Cause Hypersociability and Other Features of Williams-Beuren Syndrome in Mice

, 2009
Uta Francke
openalex   +1 more source

The canonical non-homologous end joining factor XLF promotes chromosomal deletion rearrangements in human cells [PDF]

, 2019
Ragini Bhargava, Felicia Wednesday Lopezcolorado, Linda Jillianne Tsai, Jeremy M. Stark   +3 more
openalex   +1 more source

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

Advanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei, Yu Zhou, Haitao Sun, Hang Yuan, Xinyu Pei, Jessica D. Hess, Yao Yan, Zunsong Hu, Mian Zhou, Zhaohui Gu, Li Zheng, Xiwei Wu, Binghui Shen   +12 more
wiley   +1 more source

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source

The Trichinella Super‐Pangenome Reveals the Evolution of Encapsulation and Predicted Host–Parasite Protein Interactions

Advanced Science, EarlyView.
ABSTRACT The muscle capsule of Trichinella is a critical structure that impedes immune attacks and drug penetration, yet the molecular mechanisms underlying its formation remain poorly understood. Using a high‐quality super‐pangenome comprising 12 Trichinella species, we compared extensive genomic variations between encapsulating and non‐encapsulating ...
Qingbo Lv, Yi Liu, Ning Xu, Xiao Zhang, Yaming Yang, Chengyao Li, Hanhai Mao, Mingyuan Liu, Xiaolei Liu   +8 more
wiley   +1 more source

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

Advanced Science, EarlyView.
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li, Zhongshao Chen, Qianqian Gao, Yuehan Gao, Ning Yang   +4 more
wiley   +1 more source

Mild reproductive impact of a Y chromosome deletion on a C57BL/6J substrain. [PDF]

Mamm Genome, 2017
MacBride MM, Navis A, Dasari A, Perez AV.   +3 more
europepmc   +1 more source

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

Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. [PDF]

Cent Eur J Immunol, 2018
Szaflarska A, Rutkowska-Zapała M, Gruca A, Szewczyk K, Bik-Multanowski M, Lenart M, Surman M, Kopyta I, Głuszkiewicz E, Machnikowska-Sokołowska M, Gruszczyńska K, Pituch-Noworolska A, Siedlar M.   +12 more
europepmc   +1 more source

Chromosomal Deletion [PDF]

, 2020
openaire   +1 more source