Results 111 to 120 of about 54,945 (293)

Meiotic Cas9 expression mediates gene conversion in the male and female mouse germline.

PLoS Biology, 2021
Highly efficient gene conversion systems have the potential to facilitate the study of complex genetic traits using laboratory mice and, if implemented as a "gene drive," to limit loss of biodiversity and disease transmission caused by wild rodent ...
Alexander J Weitzel, Hannah A Grunwald, Ceri Weber, Rimma Levina, Valentino M Gantz, Stephen M Hedrick, Ethan Bier, Kimberly L Cooper   +7 more
doaj   +1 more source

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome [PDF]

American Journal of Medical Genetics Part A, 2017
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi.
Ekim Z. Taskiran, Beren Karaosmanoglu, Can Koşukcu, Özlem A. Doğan, Hande Taylan‐Şekeroğlu, Pelin Ö. Şimşek‐Kiper, Eda G. Utine, Koray Boduroğlu, Mehmet Alikaşifoğlu   +8 more
openaire   +2 more sources

Modulating Purothionin Accumulation and Signal Peptide Cleavage Fine‐Tunes Wheat Flour Gluten Properties to Improve Cookie‐Making Quality

Advanced Science, EarlyView.
Dual genetic strategies for improving wheat processing quality by regulating purothionin accumulation to modulate gluten quantity and quality. The first strategy involves targeting signal peptide (SP) cleavage sites (e.g., through mutation) to indirectly reduce gluten content, thereby disrupting gluten network formation.
Yijie Liu, Siyuan Chang, Zhaoheng Zhang, Tianqi Kang, Mingde Liu, Yuan Zong, Fei Ni, Yinguang Bao, Ruijie Zhang, Xiaobang Zhang, Jinkun Du, Mingming Xin, Zhaorong Hu, Jie Liu, Zhongfu Ni, Qixin Sun, Yingyin Yao   +16 more
wiley   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

TriCON: A Carbon‐Based Triple‐Modal Nanoplatform for Pancreatic Cancer Therapy

Advanced Science, EarlyView.
We developed TriCON, a triple‐modality nanotherapeutic platform, to treat pancreatic ductal adenocarcinoma (PDAC) by synergizing gene editing, chemotherapy, and immunotherapy. TriCON utilizes CRISPR/Cas9 to target the poliovirus receptor (PVR), combined with nano‐encapsulated doxorubicin and checkpoint blockade. This approach achieved significant tumor
Xinyu Peng, Jiaxing Huang, Shengnan Lv, Jian Zhang, Liangliang Zhang, Huan Liu, Yan Liu, Zhen‐An Qiao, Feng Wei, Bao‐Lian Su   +9 more
wiley   +1 more source

Proteogenomic Characterization Reveals Subtype‐Specific Therapeutic Potential for HER2‐Low Breast Cancer

Advanced Science, EarlyView.
Multiomic profiling of HER2‐low breast cancer identifies three proteomic subtypes with distinct therapeutic strategies: endocrine, antiangiogenic, and anti‐HER2 therapies. Genomic and lactate modification landscapes are detailed, providing insights for precise management.
Shouping Xu, Keda Yu, Lei Liu, Qin Wang, Xiaohui Wu, Yihai Chen, Guozheng Li, Xin Zhang, Bo Wei, Zitong Fu, Abiyasi Nanding, Zuxianglan Zhao, Lingbing Yang, Xingda Zhang, Jianyu Wang, Wantong Sun, Yi Hao, Zhongyi Cheng, Xiaojiang Cui, Hao Wu, Da Pang   +20 more
wiley   +1 more source

Isolation, genetic characterization, and pathogenicity of the porcine epidemic diarrhea virus S-INDEL strain EJS6 in China

Animal Diseases
Porcine epidemic diarrhea virus (PEDV) is a highly infectious intestinal coronavirus that poses a significant threat to the pig industry because of its strong virulence and propensity for mutation and recombination.
Yiye Zhang, Jiahui Guo, Qi Yang, Tong Zhuang, Shaobo Xiao, Liurong Fang   +5 more
doaj   +1 more source

InDel mutations within the bovine PER2 gene are significantly associated with reproductive traits

Animal Biotechnology
Functioning as a key regulator of circadian rhythms, the PER2 gene exerts a substantial impact on the reproductive traits of animals. However, the effect of the PER2 gene on ovarian development remains unclear. In order to examine the relationship between bovine reproductive trait and the PER2 gene, a total of 901 ovarian samples were collected ...
Yuanzhe Yang, Jiajun Song, Siyuan Shen, Yongsheng Wang, Chuanying Pan, Jiyao Wu, Xianyong Lan   +6 more
openaire   +3 more sources

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source

Natural Negative Feedback Loops Confer Indica‐Japonica Differentiation for Grain Size Homeostasis in Rice

Advanced Science, EarlyView.
This study reveals the genetic and molecular mechanisms controlling grain size homeostasis through fine‐tuning OsGRX8 self‐expression by two natural negative feedback loops functioning in redox‐dependent or ‐independent manners and identifies two self‐regulatory haplotypes (SRHs) for the subspecies differentiation in rice.
Xingxing Li, Meng‐en Wu, Ziqi Qiao, Junkui Huang, Juncheng Zhang, Yang Ding, Junqing Zhu, Jingyue Xu, Yuxin Huang, Wei Li, Xiaomin Su, Yue Ding, Jianwei Zhang, Yibo Li   +13 more
wiley   +1 more source