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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Akademický článek

Single‐Nucleus Multiomic Analyses Identifies Gene Regulatory Dynamics of Phenotypic Modulation in Human Aneurysmal Aortic Root.

Autor: Liu, Xuanyu¹ (AUTHOR), Zeng, Qingyi¹ (AUTHOR), Yang, Hang¹ (AUTHOR), Li, Wenke¹ (AUTHOR), Chen, Qianlong¹ (AUTHOR), Yin, Kunlun¹ (AUTHOR), Pan, Zihang² (AUTHOR), Wang, Kai² (AUTHOR) kai.wang88@pku.edu.cn, Luo, Mingyao^1,3,4,5 (AUTHOR) luomingyao@fuwai.com, Shu, Chang^1,3 (AUTHOR) changshu@fuwaihospital.org, Zhou, Zhou¹ (AUTHOR) zhouzhou@fuwaihospital.org

Publikováno v: Advanced Science. 6/12/2024, Vol. 11 Issue 22, p1-17. 17p.

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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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Akademický článek

Modulation of biomineralization morphology by phosphorylated collagen peptides: insights into osteogenesis imperfecta pathophysiology.

Autor: Nian, Linge, Li, Wenhua, Tian, Xinyu, Wei, Guochen, Wu, Qingfeng, Xiao, Jianxi

Publikováno v: Journal of Materials Chemistry B; 12/14/2024, Vol. 12 Issue 46, p12103-12110, 8p

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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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Akademický článek

Autor: de Kuijper-Timmermans E; Vogellanden Center of Rehabilitation Medicine & Special Care in Dentistry, Zwolle, The Netherlands.; Department of Oral and Maxillofacial Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Blokland L; Vogellanden Center of Rehabilitation Medicine & Special Care in Dentistry, Zwolle, The Netherlands.; Radboud University Medical Center, Nijmegen, The Netherlands., de Kuijper M; Department of Restorative Dentistry, Center for Dentistry and Oral Hygiene, University Medical Center Groningen, The University of Groningen, Groningen, The Netherlands., Kalaykova S; Department of Dentistry, Radboud University Medical Center, Nijmegen, The Netherlands., Zillikens MC; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands., Appelman-Dijkstra NM; Division Endocrinology and Center for Bone Quality, Department of Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands., Gooijer K; Expert Center for Adults With Osteogenesis Imperfecta, Isala Hospital, Zwolle, The Netherlands., Harsevoort A; Expert Center for Adults With Osteogenesis Imperfecta, Isala Hospital, Zwolle, The Netherlands., Janus GJM; Expert Center for Adults With Osteogenesis Imperfecta, Isala Hospital, Zwolle, The Netherlands.

Publikováno v: Oral diseases [Oral Dis] 2024 Oct 22. Date of Electronic Publication: 2024 Oct 22.

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