Results 121 to 130 of about 19,262 (234)

Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene

Stem Cell Research
Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced
Xihao Sun, Yuqin Liang, Chunwen Duan, Xujie Liu, Yalan Zhou, Shengru Mao, Zekai Cui, Jianing Gu, Chengcheng Ding, Jiansu Chen, Shibo Tang   +10 more
doaj   +1 more source

Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)

Stem Cell Research
Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an ...
Sudipta Mahato, Savitri Maddileti, Trupti Agrawal, Sundaram Acharya, Chitra Kannabiran, Subhadra Jalali, Debojyoti Chakraborty, Indumathi Mariappan   +7 more
doaj   +1 more source

PhieABEs: a PAM-less/free high-efficiency adenine base editor toolbox with wide target scope in plants. [PDF]

Plant Biotechnol J, 2022
Tan J, Zeng D, Zhao Y, Wang Y, Liu T, Li S, Xue Y, Luo Y, Xie X, Chen L, Liu YG, Zhu Q.   +11 more
europepmc   +1 more source

Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model

Nature Communications
Duchenne muscular dystrophy (DMD) affecting 1 in 3500–5000 live male newborns is the frequently fatal genetic disease resulted from various mutations in DMD gene encoding dystrophin protein. About 70% of DMD-causing mutations are exon deletion leading to
Jiajia Lin, Ming Jin, Dong Yang, Zhifang Li, Yu Zhang, Qingquan Xiao, Yin Wang, Yuyang Yu, Xiumei Zhang, Zhurui Shao, Linyu Shi, Shu Zhang, Wan-jin Chen, Ning Wang, Shiwen Wu, Hui Yang, Chunlong Xu, Guoling Li   +17 more
doaj   +1 more source

Development of a high-fidelity Cas9-dependent adenine base editor (ABE) system for genome editing with high-fidelity Cas9 variants. [PDF]

Genes Dis, 2023
Hong R, He X.
europepmc   +1 more source

An innovative approach using CRISPR-ribonucleoprotein packaged in virus-like particles to generate genetically engineered mouse models

Nature Communications
Genetically engineered mouse models (GEMMs) are crucial for investigating disease mechanisms, developing therapeutic strategies, and advancing fundamental biological research. While CRISPR gene editing has greatly facilitated the creation of these models,
Tae Yeong Jeong, Da Eun Yoon, Sol Pin Kim, Jiyun Yang, Soo-Yeon Lim, Sungjin Ok, Sungjin Ju, Jeongeun Park, Su Bin Lee, Soo-Ji Park, Sanghun Kim, Hyunji Lee, Daekee Lee, Soo Kyung Kang, Seung Eun Lee, Hyeon Soo Kim, Je Kyung Seong, Kyoungmi Kim   +17 more
doaj   +1 more source

UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, EarlyView.
Abstract Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.
Dharmisha Chauhan, Cinzia Dello Russo, Jack Thompson, Dyfrig A. Hughes, Katherine Payne, Maria Tsakiroglou, Paul Ross, Rena Chauhan, Simon Jenkinson, Jessica Keen, Sophie Harding, Eleanor Lau, Michael Braun, Roshan Agarwal, Richard Adams, Elisabeth Rolf, Farah Al‐Sheikhli, Sarah Mitchell, Ruth Hammond, Rosie Roberts, Lorna Cairns, Shirley Heggarty, Janet Graham, Justin Mencel, Munir Pirmohamed   +24 more
wiley   +1 more source

Translating Blue Light Stimulation From Batch to Perfusion: Process and Intracellular Metabolic Analysis

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Improving cell‐specific productivity remains a central objective in biopharmaceutical manufacturing. In this study, the effect of blue light illumination on IgG1‐producing CHO DP‐12 cells was systematically evaluated across batch, fed‐batch, and perfusion cultivations in controlled 3 L bioreactor systems.
Stefanie Föller, Attila Teleki, Ralf Takors   +2 more
wiley   +1 more source

In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression

Genome Medicine
Background Krabbe disease (KD) is caused by mutation of the galactosylceramidase (GALC) gene, leading to deficient sphingolipid metabolism, which is essential for functional myelination.
Bae-Geun Nam, Jung Hwa Seo, Sung-Ah Hong, Ju-Hee Kim, Minju Kang, Geneva Rose Notario, Yoontaik Hong, Seunghee Cho, Sangsu Bae, Sung-Rae Cho   +9 more
doaj   +1 more source

Development of an efficient and precise adenine base editor (ABE) with expanded target range in allotetraploid cotton (Gossypium hirsutum). [PDF]

BMC Biol, 2022
Wang G, Xu Z, Wang F, Huang Y, Xin Y, Liang S, Li B, Si H, Sun L, Wang Q, Ding X, Zhu X, Chen L, Yu L, Lindsey K, Zhang X, Jin S.   +16 more
europepmc   +1 more source