ArticleScientific reports2016
Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 41 citations in OpenAlex.
- Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.Journal of veterinary internal medicine · 2026Article
- Review
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 2025Article
- Epigenome editing-mediated restoration ofBiochemistry and biophysics reports · 2025Article
- Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.Drug design, development and therapy · 2025Review
- Regnase-1 overexpression as a therapeutic approach of Marfan syndrome.Molecular therapy. Methods & clinical development · 2024Article
- Genetic models of fibrillinopathies.Genetics · 2024Review
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
- Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene.Molecular therapy. Nucleic acids · 2023Article
- Current landscape of gene-editing technology in biomedicine: Applications, advantages, challenges, and perspectives.MedComm · 2022Review
- Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency.The Journal of reproduction and development · 2022Article
- Translational Medicine: Towards Gene Therapy of Marfan Syndrome.Journal of clinical medicine · 2022Review
- CRISPR Modeling and Correction of Cardiovascular Disease.Circulation research · 2022Review
- Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation.Laboratory investigation; a journal of technical methods and pathology · 2022Article
- CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.Molecular genetics & genomic medicine · 2021Article
- Current status of the application of gene editing in pigs.The Journal of reproduction and development · 2021Review
- Gene Therapy for Cardiovascular Disease: Basic Research and Clinical Prospects.Frontiers in cardiovascular medicine · 2021Review
- Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies.International journal of molecular sciences · 2020Review
- Deficiency of Circulating Monocytes Ameliorates the Progression of Myxomatous Valve Degeneration in Marfan Syndrome.Circulation · 2020Article
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Marfan syndrome (MFS) is an autosomal dominant genetic disease caused by abnormal formation of the extracellular matrix with an incidence of 1 in 3, 000 to 5, 000. Patients with Marfan syndrome experience poor quality of life caused by skeletal disorders such as scoliosis, and they are at high risk of sudden death from cardiovascular impairment. Suitable animal models of MFS are essential for conquering this intractable disease. In particular, studies employing pig models will likely provide valuable information that can be extrapolated to humans because of the physiological and anatomical similarities between the two species. Here we describe the generation of heterozygous fibrillin-1 (FBN1) mutant cloned pigs (+/Glu433AsnfsX98) using genome editing and somatic cell nuclear transfer technologies. The FBN1 mutant pigs exhibited phenotypes resembling those of humans with MFS, such as scoliosis, pectus excavatum, delayed mineralization of the epiphysis and disrupted structure of elastic fibres of the aortic medial tissue. These findings indicate the value of FBN1 mutant pigs as a model for understanding the pathogenesis of MFS and for developing treatments.
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