Results 141 to 150 of about 83,578 (286)

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting. [PDF]

J Clin Immunol, 2022
Dirks J, Haase G, Cantaert T, Frey L, Klaas M, Rickert CH, Girschick H, Meffre E, Morbach H.   +8 more
europepmc   +1 more source

Accounting for ALA Natural Mutations Enhances the Efficiency of Graphene Oxide Nanopriming in Bar‐Modified Arabidopsis

Advanced Science, EarlyView.
Nanopriming enhances plant resilience to environmental challenges; however, its effectiveness across diverse genetic backgrounds, including genetic modifications and natural variations, remains uncertain. These findings demonstrate that nanopriming improves efficacy when natural genetic variations are considered, particularly in genetically modified ...
Yining Wu, Rui Sun, Yueting Cui, Jun Qiao, Chengdong Zhang   +4 more
wiley   +1 more source

Case Report: A Case of Hailey-Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene. [PDF]

Front Genet, 2021
Dai Y, Yu L, Wang Y, Gao M, Wang P.
europepmc   +1 more source

COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome

, 1993
Kai-Olaf Netzer, Oliver Pullig, Ulrich Frei, Jing Zhou, Karl Tryggvason, Manfred Weber   +5 more
openalex   +1 more source

Novel Point Mutation in the Splice Donor Site of Exon-Intron Junction 6 of the Androgen Receptor Gene in a Patient with Partial Androgen Insensitivity Syndrome* [PDF]

, 2000
Innocenzo Sammarco, Paola Grimaldi, Pellegrino Rossi, Marco Cappa, Costanzo Moretti, Gaetano Frajese, Raffaele Geremia   +6 more
openalex   +1 more source

Single‐Cell and Spatial Transcriptomic Profiling of Penile Squamous Cell Carcinoma Reveals Dynamics of Tumor Differentiation and Immune Microenvironment

Advanced Science, EarlyView.
This study uses single‐nucleus RNA sequencing and spatial transcriptomics to investigate penile squamous cell carcinoma (PSCC). It reveals that PSCC tumor cells mimic normal penile epithelium differentiation, independent of HPV status. The Tum_1 subtype shows basal stem‐like characteristics and promotes invasiveness. HPV‐positive basal stem‐like tumors
Hongjian Song, Zhichao Tong, Guixiang Xie, Yaowei Li, Yubo Zhao, Fengpu Fan, Zongzheng Yang, Qing Shi, Qian Zhang, Feng Wen, Hongxue Meng, Haonan Li, Pengyu Guo, Dayong Hou, Zhenwei Zhang, Zhihao Yin, Ziyi Liu, Jianwei Wang, Peng Zhang, Peng Dai, Changfu Li, Lichen Teng, Yangyang Xu, Dexin Ding, Tao Xu, Jianzhang Li, Yongsheng Chen, Yu Qiu, XiaoWei Hu, Wentao Liu, Liang Wu, Roman Nawroth, Guibo Li, Hang Su, Ziqing Deng, Ziqi Wang, Di Wang, Wanhai Xu   +37 more
wiley   +1 more source

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms [PDF]

Genes (Basel), 2022
Weronska A, Potaczek DP, Oto J, Medina P, Undas A, Wypasek E.   +5 more
europepmc   +1 more source

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

, 1993
E C Landels, P.M. Green, I H Ellis, Anthony H. Fensom, Michael M. Kaback, J. S. T. Lim-Steele, Karen Zeiger, N. Lévy, Martin Bobrow   +8 more
openalex   +1 more source

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Correction to: Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report. [PDF]

BMC Infect Dis, 2021
Ito Y, Takazono T, Koga S, Nakano Y, Ashizawa N, Hirayama T, Tashiro M, Saijo T, Yamamoto K, Imamura Y, Miyazaki T, Yanagihara K, Izumikawa K, Mukae H.   +13 more
europepmc   +1 more source