ArticleHuman genetics2017
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
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Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Genetically modified pigs: Emerging animal models for hereditary hearing loss.Zoological research · 2024Review
- Intranasal vs. intramuscular administration of azaperone, midazolam and ketamine in pigs.Frontiers in veterinary science · 2024Article
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Ontogeny of cellular organization and LGR5 expression in porcine cochlea revealed using tissue clearing and 3D imaging.iScience · 2022Article
- Advances in pig models of human diseases.Animal models and experimental medicine · 2022Review
- Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Molecular genetics & genomic medicine · 2021Article
- Current status of the application of gene editing in pigs.The Journal of reproduction and development · 2021Review
- CRISPR/Cas9-mediated correction ofMolecular therapy. Nucleic acids · 2021Article
- Viewing the current situation of pig model application in China's medical field from the application and funding of NSFC.Journal of otology · 2021Review
- Genome and base editing for genetic hearing loss.Hearing research · 2020Review
- Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome.Neural plasticity · 2020Article
- Improvements in Gene Editing Technology Boost Its Applications in Livestock.Frontiers in genetics · 2020Review
- A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.Journal of molecular cell biology · 2019Article
- Screening for Antiviral Medaka Haploid Embryonic Stem Cells by Genome Wide Mutagenesis.Marine biotechnology (New York, N.Y.) · 2019Article
- Rescuing ocular development in an anophthalmic pig by blastocyst complementation.EMBO molecular medicine · 2018Article
- Potential of Gene and Cell Therapy for Inner Ear Hair Cells.BioMed research international · 2018Review
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Authors and funding
28 authors at 7 institutions in 2 countries.
Tang HaiState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Weiwei GuoDepartment of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Jing YaoState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Chunwei CaoState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Ailing LuoState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Meng QiState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Xianlong WangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Xiao WangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Jiaojiao HuangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Ying ZhangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Hongyong ZhangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Dayu WangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Haitao ShangDepartment of Laboratory Animal Science, College of Basic Medical Sciences, Third Military Medical University, Chongqing, 400038, China.
Qianlong HongState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Rui ZhangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Qitao JiaState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Qiantao ZhengState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Guosong QinState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Yongshun LiState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Tao ZhangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Weiwu JinState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Zheng-Yi ChenDepartment of Otolaryngology, Harvard Medical School and Eaton-Peabody Laboratories, Massachusetts Eye and Ear Infirmary, Boston, MA, 02114, USA.
Hongmei WangState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Qi ZhouState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
Anming MengSchool of Life Sciences, Tsinghua University, Beijing, 100084, China.
Hong WeiDepartment of Laboratory Animal Science, College of Basic Medical Sciences, Third Military Medical University, Chongqing, 400038, China. weihong63528@163.com.
Shiming YangDepartment of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. yangsm301@263.net.
Jianguo ZhaoState Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China. zhaojg@ioz.ac.cn.
Institute of Zoology · CNChinese Academy of Sciences · CNArmy Medical University · CNChinese PLA General Hospital · CNMassachusetts Eye and Ear Infirmary · USTsinghua University · CNUniversity of Chinese Academy of Sciences · CN
Funding
National Basic Research Program of China 2011BAI15B02National Basic Research Program of China 2011CB944100National Basic Research Program of China 2011CBA01005National Basic Research Program of China 2012BAI39B04National Basic Research Program of China 2012CB967900National High Technology Research and Development Program of China 2012AA020602National Natural Science Foundation of China 31402045National Natural Science Foundation of China 31601008National Natural Science Foundation of China 81671274National Transgenic Project of China 2014ZX0801007BNational Transgenic Project of China 2016ZX08009003-006NIH HHS DC006908Strategic Priority Research Program of CAS XDA01030400Strategic Priority Research Program of CAS XDA08000000
Abstract
Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL) syndrome caused by mutations in the microphthalmia-associated transcription factor (MITF) gene. In mouse models with MITF mutations, WS2A is transmitted in a recessive pattern, which limits the study of hearing loss (HL) pathology. In the current study, we performed ENU (ethylnitrosourea) mutagenesis that resulted in substituting a conserved lysine with a serine (p. L247S) in the DNA-binding domain of the MITF gene to generate a novel miniature pig model of WS2A. The heterozygous mutant pig (MITF
Indexed as
Disease Models, AnimalMutationAmino Acid SequenceAnimalsAnimals, Genetically ModifiedEthylnitrosoureaFemaleHearing LossHumansMaleMicrophthalmia-Associated Transcription FactorMutagenesisMutagensSequence HomologySwineSwine, MiniatureEthylnitrosoureaMicrophthalmia-Associated Transcription FactorMutagens
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.