Results 111 to 120 of about 19,445 (257)

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation of the D4Z4 repeat resulting in misexpression of the D4Z4-encoded DUX4 gene in skeletal muscle.
Darina Šikrová, Ariyurek, Y., van der Maarel, Silvère M, Yavuz Ariyurek, Šikrová, Darina, Balog, Judit, Laros, J.F.J., Judit Balog, Maarel, S.M. van der, Cadar, V.A., Vlad A. Cadar, Sikrova, D., Balog, J., Ariyurek, Yavuz, Jeroen F.J. Laros, Silvère M. van der Maarel, Cadar, Vlad A, Laros, Jeroen F J   +17 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope [PDF]

, 2020
Base editors are RNA-guided deaminases that enable site-specific nucleotide transitions. The targeting scope of these Cas-deaminase fusion proteins critically depends on the availability of a protospacer adjacent motif (PAM) at the target locus and is ...
Marquart, Kim, Schmidheini, Lukas; https://orcid.org/, Rothgangl, Tanja, Schwank, Gerald; https://orcid.org/, Villiger, Lukas, Mathis, Nicolas; https://orcid.org/   +5 more
core   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

UHPLC–MS based metabolomics study of the ErZhi formula on skeletal muscle against osteosarcopenia focusing on energy metabolism

Animal Models and Experimental Medicine, EarlyView.
ErZhi formula (EZF) is composed of Ligustri Lucidi Fructus (LLF) and Ecliptae herba (EH). Ovariectomized (OVX) and sham rats received 12‐week intragastric treatment with EZF, alendronate, and vehicle saline. Gastrocnemius tissues were harvested to systematically evaluate pharmacodynamic changes in skeletal muscle morphology, mitochondrial ...
Yuqing Pang, Ningning Li, Yujie Ding, Shuzhen Hou, Jing Liu, Xiuxue Liu, Erwei Liu, Xiaopeng Chen   +7 more
wiley   +1 more source

Adenine Base Editing in vivo with a Single Adeno-Associated Virus Vector [preprint]

, 2022
This article is a preprint. Preprints are preliminary reports of work that have not been certified by peer review.Base editors (BEs) have opened new avenues for the treatment of genetic diseases.
Xie, Jun, Xue, Wen, Sontheimer, Erik J., Gao, Guangping, Liu, Pengpeng, Zhang, Han, Cheng, Haoyang, Wolfe, Scot A., Ojelabi, Ogooluwa, Rodríguez, Tomás, Bamidele, Nathan, Gao, Xin D.   +11 more
core   +1 more source

Coiled-coil heterodimer-mediated split base editing systems enable flexible and robust nucleotide substitutions

Nature Communications
Base editors (BEs) enable precise base substitutions, but their size exceeds the packaging capacity of adeno-associated virus (AAV), impeding in vivo applications.
Shuangshuang Mu, Qianru Li, Menglong Chen, Ziqi Li, Yuke Ma, Yuqi Li, Yiran Song, Shuangying Hou, Yuting Ding, Jialu Ju, Yue Lin, Jian Zhang, Yuanxi Yang, Xue Ren, Nan Li, Qin Jin, Liangxue Lai, Kepin Wang, Hui Shi   +18 more
doaj   +1 more source

Adenine base editing with engineered virus-like particles rescues the CFTR mutation G542X in patient-derived intestinal organoids [PDF]

Cystic fibrosis (CF) is a life-shortening autosomal recessive disease, caused by loss-of-function mutations that affect the CF transmembrane conductance regulator (CFTR) anion channel.
Elise Dreano, Lucia Nicosia, Harrison, Patrick T., Kader Cavusoglu-Doran, Lisa Lonetti, Joss B. Murray, Pranke, Iwona, Costello, James P., Latorre, Roberta V., Lonetti, Lisa, Martina F. Scallan, Cavusoglu-Doran, Kader, Melotti, Paola, Dreano, Elise, Paola Melotti, Patrick T. Harrison, Sorio, Claudio, Sermet-Gaudelus, Isabelle, Isabelle Sermet-Gaudelus, Murray, Joss B., Carroll, Michael, Roberta V. Latorre, Claudio Sorio, Scallan, Martina F., Michael Carroll, Nicosia, Lucia, James P. Costello, Iwona Pranke   +27 more
core   +1 more source

Application of an efficient adenine base editing system in developing Danshen (Salvia miltiorrhiza) dinitroaniline-resistant germplasm

Horticultural Plant Journal
Chinese herbal medicine Danshen (Salvia miltiorrhiza) has suggested therapeutic effects on cardiovascular and cerebrovascular diseases, inflammatory reactions and tumors, perhaps due to secondary metabolites, such as tanshinone.
Huanan Han, Ziwen Wu, Zaijie Zhang, Yusen Qu, Yingcan Wang, Pingping Wang, Changle Ma   +6 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