Results 81 to 90 of about 100,877 (263)

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

Molecular Cytogenetics, 2018
Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid, M. S. Zaki   +9 more
doaj   +1 more source

Natural Variation of COLD and CATECHINS REGULATOR 1 Coordinately Fine‐Tunes Cold Tolerance and Tea Quality in Tea Plants

Advanced Science, EarlyView.
Multi‐trait genome‐wide association mapping identifies a central hub regulator, COLD AND CATECHINS REGULATOR 1 (CCR1), and its excellent natural allele variation, coordinately enhancing cold tolerance and promoting catechins biosyntheis. CsCCR1 interacts with CsCBF1/3 and is transcriptionally activated by CsLUX and CsKUA1 to promote catechins ...
Yanli Wang, Wei Tong, Qiong Wu, Didi Wu, Yanrui Zhang, Qijuan Gao, Fangdong Li, Zhaoliang Zhang, Wenjie Wang, Chuankui Song, Enhua Xia   +10 more
wiley   +1 more source

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

Molecular Genetics & Genomic Medicine, 2019
Background The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc.
Jianjiang Zhu, Hong Qi, Sha Cao, Lirong Cai, Xiaohui Wen, Guodong Tang, Qian Wan, Chen Chen, Juan Wang, Wen Zeng, Yao Luo   +10 more
doaj   +1 more source

The Stress-Inducible Peroxidase TSA2 Underlies a Conditionally Beneficial Chromosomal Duplication in Saccharomyces cerevisiae

G3: Genes, Genomes, Genetics, 2017
Although chromosomal duplications are often deleterious, in some cases they enhance cells’ abilities to tolerate specific genetic or environmental challenges.
Robert A. Linder, John P. Greco, Fabian Seidl, Takeshi Matsui, Ian M. Ehrenreich   +4 more
doaj   +1 more source

Calcineurin‐Dependent Stress Adaptation Enables Caspofungin Heteroresistance Leading to Stable Resistance in Candida Glabrata

Advanced Science, EarlyView.
Caspofungin heteroresistance is prevalent in clinical Candida glabrata isolates and depends on calcineurin‐mediated stress adaptation. This transient phenotype serves as a reservoir for resistance evolution, enabling the emergence of stable resistant descendants under prolonged drug pressure.
Yanyu Su, Yi Li, Meng Xiao, Dan Guo, David S. Perlin, Erika Shor, Yingchun Xu, Yingxing Li   +7 more
wiley   +1 more source

Gene Correction Enhances Dopaminergic Cell Therapy in a Nonhuman Primate Model of Parkinson's Disease

Advanced Science, EarlyView.
LRRK2‐mutant induced pluripotent stem cells (iPSCs) were derived from a patient with Parkinson's disease (PD). Using CRISPR/Cas9–mediated gene editing, the pathogenic LRRK2 mutations were precisely corrected, and isogenic dopaminergic neural progenitor cells (DA‐NPCs) were subsequently generated.
Qing Yan, Chongchong Xu, Jiangmei Gao, Pu Wang, Qingling Wu, Ying Jin, Binyan Lu, Mu Li, Mingting Shao, Bihai Li, Zhenghui Su, Yijng Zhang, Jianhuan Chen, Haojie An, Mengyao Huang, Xiaoji Zhuang, Yuhui Shen, Fenglin Wang, Nana Xu, Yiyan Liu, Lei Tang, Xiuling Zhong, Minyan Zhong, Jiecong Chen, Zhenhuang Wang, Xingrong Luo, Sheng Liu, RuiFeng Liu, Ling Zhang, Junhua Rao   +29 more
wiley   +1 more source

Multi‐regional Organoid Biobank Reveals FAK‐ACSL1‐Driven Doxorubicin‐Resistance and Predictive Biomarkers in Breast Cancer

Advanced Science, EarlyView.
This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu, Zhijun Qin, Jiapeng Yang, Baoyuan Zhang, Manqing Cao, Peng Wang, Zaiqi Wang, Jinghui Cheng, Lei Wang, Hong Liu, Hui Yang   +10 more
wiley   +1 more source

Single‐cell Transcriptome Profiling Reveals Gene Regulatory Networks and Key Genes in the Root Epidermis and Cortical Cells Associated with Early Nodulation in Glycine Max

Advanced Science, EarlyView.
Single‐cell transcriptomics of soybean roots soon after rhizobial inoculation reveals epidermal and cortical cell‐specific programs and gene‐regulatory networks acting in symbiosis establishment. We identify an ethylene‐driven regulatory circuit involving WRKY6.3/6.4 transcription factors targeting select Nod19 genes that promotes infection‐thread ...
Yongbin Zhuang, Yu Geng, Xinyu Guo, Chen Wang, Yongjing Sun, Luqi Liu, Li Liu, QianQian Gao, XinFang Zhu, Hongxiang Cao, Gengshuo Zhang, Yunxia Liu, Guobin Zhang, Baoyin Chen, Jinfei Zhang, Xin Hou, Xiaoming Li, Dajian Zhang   +17 more
wiley   +1 more source

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion

Frontiers in Genetics
Chromosomal abnormality is a significant cause of neurodevelopmental delay and congenital malformation. Only a few cases of chromosome 7 imbalances with both duplication of the distal long arm (7q) and deletion of the distal short arm (7p) have been ...
Rongbo Lin, Rongbo Lin, Wenhui Zhang, Mingwei Huang, Yansheng Shen, Jianxiang Liao, Ping Song, Ying Qi, Jie He, Yuanxiang Xia, Jing Duan, Yuanzhen Ye, Qiuwei Yi, Pei Lan, Lingyu Kong, Zhanqi Hu   +15 more
doaj   +1 more source