Výsledky vyhledávání - "M. C. Willing"

Akademický článek

Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries

Autor: D. D. Lewis, J. R. Shaffer, E. Feingold, M. Cooper, M. M. Vanyukov, B. S. Maher, R. L. Slayton, M. C. Willing, S. E. Reis, D. W. McNeil, R. J. Crout, R. J. Weyant, S. M. Levy, A. R. Vieira, M. L. Marazita

Publikováno v: International Journal of Dentistry, Vol 2017 (2017)

Matrix metalloproteinases (MMPs), which degrade extracellular proteins as part of a variety of physiological processes, and their inhibitors have been implicated in the dental caries process. Here we investigated 28 genetic variants spanning the MMP1

Externí odkaz: https://doaj.org/article/f09ed7bc94584c47a2e8f5ade36a8f76

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Genetic Association of

Autor: D D, Lewis, J R, Shaffer, E, Feingold, M, Cooper, M M, Vanyukov, B S, Maher, R L, Slayton, M C, Willing, S E, Reis, D W, McNeil, R J, Crout, R J, Weyant, S M, Levy, A R, Vieira, M L, Marazita

Publikováno v: International Journal of Dentistry

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::26bfe5136e54243ddcd2ab1c6e2de68a
https://pubmed.ncbi.nlm.nih.gov/28348596

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Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

Autor: M C, Willing, S P, Deschenes, R L, Slayton, E J, Roberts

Publikováno v: American journal of human genetics. 59(4)

Nonsense and frameshift mutations, which predict premature termination of translation, often cause a dramatic reduction in the amount of transcript from the mutant allele (nonsense-mediated mRNA decay). In some genes, these mutations also influence R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d49484e4ee5935dafb70affe028cb49c
https://pubmed.ncbi.nlm.nih.gov/8808594

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Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

Autor: M C, Willing, S P, Deschenes, D A, Scott, P H, Byers, R L, Slayton, S H, Pitts, H, Arikat, E J, Roberts

Publikováno v: American journal of human genetics. 55(4)

Osteogenesis imperfecta (OI) type I is the mildest form of inherited brittle-bone disease. Dermal fibroblasts from most affected individuals produce about half the usual amount of type I procollagen, as a result of a COL1A1 "null" allele. Using PCR a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3666082010fb5a289a5715cb96a754cc
https://pubmed.ncbi.nlm.nih.gov/7942841

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Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

Autor: M C, Willing, D H, Cohn, B, Starman, K A, Holbrook, C R, Greenberg, P H, Byers

Publikováno v: The Journal of biological chemistry. 263(17)

We characterized a de novo 4.5 kilobase pair deletion in the paternally derived alpha 2(I) collagen allele (COL1A2) from a patient with perinatal lethal osteogenesis imperfecta. The intron-to-intron deletion removed the seven exons which encode resid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::831737577e9b208abffe7302f0a1ac1d
https://pubmed.ncbi.nlm.nih.gov/3372533

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