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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
- Joeng, K. S. (author)
- Campeau, P. M. (author)
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- Kiviranta, R. (author)
- Tarkkonen, K. (author)
- Grover, M. (author)
- Lu, J. T. (author)
- Pekkinen, M. (author)
- Wessman, M. (author)
- Heino, T. J. (author)
- Nieminen-Pihala, V. (author)
- Aronen, M. (author)
- Kroger, H. (author)
- Cole, W. G. (author)
- Lehesjoki, A. E. (author)
- Nevarez, L. (author)
- Krakow, D. (author)
- Curry, C. J. R. (author)
- Cohn, D. H. (author)
- Gibbs, R. A. (author)
- Lee, B. H. (author)
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- (creator_code:org_t)
- 2013
- 2013
- English.
- In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 368:19, s. 1809-1816
- Journal article (peer-reviewed)
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)
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- ref (subject category)
- art (subject category)
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- Laine, Christine ...
- Joeng, K. S.
- Campeau, P. M.
- Kiviranta, R.
- Tarkkonen, K.
- Grover, M.
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- Lu, J. T.
- Pekkinen, M.
- Wessman, M.
- Heino, T. J.
- Nieminen-Pihala, ...
- Aronen, M.
- Laine, Tero
- Kroger, H.
- Cole, W. G.
- Lehesjoki, A. E.
- Nevarez, L.
- Krakow, D.
- Curry, C. J. R.
- Cohn, D. H.
- Gibbs, R. A.
- Lee, B. H.
- Makitie, O.
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- MEDICAL AND HEALTH SCIENCES
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- University of Gothenburg
- Karolinska Institutet
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