Results 161 to 170 of about 152,200 (329)

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

Chromosome 22 Loss of Heterozygosity

Definitions, 2020

semanticscholar   +1 more source

On the accumulation of deleterious mutations during range expansions

, 2013
We investigate the effect of spatial range expansions on the evolution of fitness when beneficial and deleterious mutations co-segregate. We perform individual-based simulations of a uniform linear habitat and complement them with analytical ...
Dupanloup, Isabelle, Excoffier, Laurent, Kirkpatrick, Mark, Peischl, Stephan   +3 more
core   +1 more source

Igfbp2 Downregulation in PVT‐CeA Glutamatergic Circuits Drives Neonatal Anesthesia‐Induced Fear Memory Deficits

Advanced Science, EarlyView.
Repeated neonatal sevoflurane exposure impairs adolescent fear memory through Igfbp2 downregulation in paraventricular thalamus‐central amygdala glutamatergic projections. Restoring Igfbp2 or activating this circuit rescues memory deficits, neuronal excitability, and spine density, identifying a precise molecular target for preventing anesthesia ...
Weiming Zhao, Ke Peng, Baojian Zhao, Xiaowen Meng, Gang Wang, Hanbing Xu, Li Deng, Xisheng Shan, Yichan Wang, Qiya Xu, Yanan Gao, Ruixia Weng, Hong Liu, Jin Tao, Huayue Liu, Shaoyong Song, Fuhai Ji   +16 more
wiley   +1 more source

Chromosome 11 Loss of Heterozygosity

Definitions, 2020

semanticscholar   +1 more source

Co‐Selection of Low Cadmium Accumulation and High Yield During Tomato Improvement

Advanced Science, EarlyView.
This study finds that large‐fruited tomatoes accumulate less cadmium (Cd) compared to wild tomatoes and cherry tomatoes. This is because, during the improvement process of tomato, the low‐Cd allele LCT1A and the large fruit allele fw3.2T are closely linked, leading to a co‐selection event.
Xingyu Zhang, Mei Qing, Haobo Xu, Jinbao Tao, Fangman Li, Pingfei Ge, Yang Yang, Wenqian Wang, Yongen Lu, Donald Grierson, Zhibiao Ye, Yuyang Zhang   +11 more
wiley   +1 more source

BRCA1 gene mutation and loss of heterozygosity on chromosome 17q21 in primary prostate cancer [PDF]

, 1999
Τοyoaki Uchida, Xue Wang, T. Sato, Jiangping Gao, Rikiya Takashima, Akira Irie, Makoto Ohori, Ken Koshiba   +7 more
openalex   +1 more source

BRD4 Signaling Maintains the Differentiated State of β Cells

Advanced Science, EarlyView.
The comprehensive exploration revealed the critical role of BRD4 in β cells. BRD4 plays a fundamental role in maintaining β cell differentiation because both long‐term and acute BRD4 deficiency result in a reduction in insulin secretion and downregulation of differentiation markers.
Fuqiang Liu, Guang Liu, Jia Song, Yujing Sun, Mengmeng Yang, Hualin Liu, Hongkai Zhao, Jiamu Chen, Qincheng Qiao, Siyue Li, Chenglong Yu, Jingru Qu, Ying Zou, Tixiao Wang, Jidong Liu, Lei Zhao, Huihui Tian, Tao Huang, Manna Zhang, Li Chen, Ruxing Zhao, Yuanyuan Du, Xinguo Hou   +22 more
wiley   +1 more source

Frequent clonal loss of heterozygosity but scarcity of microsatellite instability at chromosomal breakpoint cluster regions in adult leukemias [PDF]

, 1996
T Pabst, J Schwaller, MJ Bellomo, M Oestreicher, Dominique Mühlematter, André Tichelli, A Tobler, MF Fey   +7 more
openalex   +1 more source

Engineering Adenine Deaminase TadA for Precise and PAM‐Flexible Point Mutagenesis and Gradient‐Tuning Endogenous Protein Design

Advanced Science, EarlyView.
Base editing enables precise nucleotide substitutions but limited by bystander editing. This study engineers plant base editors by fusing optimized TadA variants with PAM‐flexible SpRY nickase, enabling A‐to‐G, C‐to‐T, and dual‐base conversions in a highly condensed window (≤3 nucleotides). Additionally, TadDBE (TadA Dual‐Base Editor)‐mediated directed
Kangli Sun, Si Cheng, Nan Chai, Jianing Mi, Ruixiang Zhang, Qian Qian, Zhiye Zheng, Ke Chen, Dongchang Zeng, Xin Peng, Mengyuan Shen, Degui Zhou, Qinlong Zhu, Qi Liu, Jiantao Tan   +14 more
wiley   +1 more source