Mice with an N-ethyl-N-nitrosourea (ENU) induced Tyr209Asn mutation in natriuretic peptide receptor 3 (NPR3) provide a model for kyphosis associated with activation of the MAPK signaling pathway
Non-syndromic kyphosis is a common disorder that is associated with significant morbidity and has a strong genetic involvement; however, the causative genes remain to be identified, as such studies are hampered by genetic heterogeneity, small families and various modes of inheritance. To overcome th...
Үндсэн зохиолчид: | Esapa, C, Piret, S, Nesbit, M, Loh, N, Thomas, G, Croucher, P, Brown, M, Brown, S, Cox, R, Thakker, R |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
Public Library of Science
2016
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Ижил төстэй зүйлс
Ижил төстэй зүйлс
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N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.
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A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
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