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WNT1 Mutations in E...
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
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- Laine, Christine M. (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin,Institute of Medicine
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Joeng, K. S. (author)
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Campeau, P. M. (author)
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Kiviranta, R. (author)
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Tarkkonen, K. (author)
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Grover, M. (author)
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Lu, J. T. (author)
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Pekkinen, M. (author)
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Wessman, M. (author)
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Heino, T. J. (author)
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Nieminen-Pihala, V. (author)
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Aronen, M. (author)
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- Laine, Tero (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för ortopedi,Institute of Clinical Sciences, Department of Orthopaedics
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Kroger, H. (author)
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Cole, W. G. (author)
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Lehesjoki, A. E. (author)
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Nevarez, L. (author)
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Krakow, D. (author)
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Curry, C. J. R. (author)
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Cohn, D. H. (author)
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Gibbs, R. A. (author)
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Lee, B. H. (author)
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- Makitie, O. (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2013
- 2013
- English.
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In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 368:19, s. 1809-1816
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Abstract
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- This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T -> G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C -> A, p.Ser295(star). In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Laine, Christine ...
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Joeng, K. S.
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Campeau, P. M.
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Kiviranta, R.
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Tarkkonen, K.
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Grover, M.
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show more...
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Lu, J. T.
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Pekkinen, M.
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Wessman, M.
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Heino, T. J.
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Nieminen-Pihala, ...
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Aronen, M.
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Laine, Tero
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Kroger, H.
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Cole, W. G.
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Lehesjoki, A. E.
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Nevarez, L.
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Krakow, D.
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Curry, C. J. R.
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Cohn, D. H.
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Gibbs, R. A.
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Lee, B. H.
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Makitie, O.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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New England Jour ...
- By the university
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University of Gothenburg
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Karolinska Institutet