Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

Detalhes bibliográficos
Autor(a) principal: Balemans, Wendy
Data de Publicação: 2001
Outros Autores: Ebeling, Martin, Patel, Neela, Willems, Patrick J., Alves, Auristela Freire Paes, Hill, Suvimol, Bueno, Manuel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/7762
Resumo: p. 537-543
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spelling Balemans, WendyEbeling, MartinPatel, NeelaWillems, Patrick J.Alves, Auristela Freire PaesHill, SuvimolBueno, ManuelBalemans, WendyEbeling, MartinPatel, NeelaWillems, Patrick J.Alves, Auristela Freire PaesHill, SuvimolBueno, Manuel2013-01-04T14:54:18Z2013-01-04T14:54:18Z20010964-6906http://www.repositorio.ufba.br/ri/handle/ri/7762v. 10, n. 5p. 537-543Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. By linkage analysis in one extended van Buchem family and two consanguineous sclerosteosis families we previously mapped both disease genes to the same chromosomal 17q12–q21 region, supporting the hypothesis that both conditions are caused by mutations in the same gene. After reducing the disease critical region to ~1 Mb, we used the positional cloning strategy to identify the SOST gene, which is mutated in sclerosteosis patients. This new gene encodes a protein with a signal peptide for secretion and a cysteine-knot motif. Two nonsense mutations and one splice site mutation were identified in sclerosteosis patients, but no mutations were found in a fourth sclerosteosis patient nor in the patients from the van Buchem family. As the three disease-causing mutations lead to loss of function of the SOST protein resulting in the formation of massive amounts of normal bone throughout life, the physiological role of SOST is most likely the suppression of bone formation. Therefore, this gene might become an important tool in the development of therapeutic strategies for osteoporosis.Submitted by Suelen Reis (suelen_suzane@hotmail.com) on 2013-01-04T14:54:18Z No. of bitstreams: 1 Balemans.pdf: 435181 bytes, checksum: 4b1f8a7dd0fc5b8fb66461af0151b9da (MD5)Made available in DSpace on 2013-01-04T14:54:18Z (GMT). No. of bitstreams: 1 Balemans.pdf: 435181 bytes, checksum: 4b1f8a7dd0fc5b8fb66461af0151b9da (MD5) Previous issue date: 2001http://dx.doi.org/10.1093/hmg/10.5.537reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAIncreased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)Human Molecular Geneticsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleenginfo:eu-repo/semantics/openAccessORIGINALBalemans.pdfBalemans.pdfapplication/pdf435181https://repositorio.ufba.br/bitstream/ri/7762/1/Balemans.pdf4b1f8a7dd0fc5b8fb66461af0151b9daMD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/7762/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52ri/77622022-09-23 09:17:48.639oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-09-23T12:17:48Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
dc.title.alternative.pt_BR.fl_str_mv Human Molecular Genetics
title Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
spellingShingle Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Balemans, Wendy
title_short Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
title_full Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
title_fullStr Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
title_full_unstemmed Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
title_sort Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
author Balemans, Wendy
author_facet Balemans, Wendy
Ebeling, Martin
Patel, Neela
Willems, Patrick J.
Alves, Auristela Freire Paes
Hill, Suvimol
Bueno, Manuel
author_role author
author2 Ebeling, Martin
Patel, Neela
Willems, Patrick J.
Alves, Auristela Freire Paes
Hill, Suvimol
Bueno, Manuel
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Balemans, Wendy
Ebeling, Martin
Patel, Neela
Willems, Patrick J.
Alves, Auristela Freire Paes
Hill, Suvimol
Bueno, Manuel
Balemans, Wendy
Ebeling, Martin
Patel, Neela
Willems, Patrick J.
Alves, Auristela Freire Paes
Hill, Suvimol
Bueno, Manuel
description p. 537-543
publishDate 2001
dc.date.issued.fl_str_mv 2001
dc.date.accessioned.fl_str_mv 2013-01-04T14:54:18Z
dc.date.available.fl_str_mv 2013-01-04T14:54:18Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.repositorio.ufba.br/ri/handle/ri/7762
dc.identifier.issn.none.fl_str_mv 0964-6906
dc.identifier.number.pt_BR.fl_str_mv v. 10, n. 5
identifier_str_mv 0964-6906
v. 10, n. 5
url http://www.repositorio.ufba.br/ri/handle/ri/7762
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1093/hmg/10.5.537
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
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instname_str Universidade Federal da Bahia (UFBA)
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institution UFBA
reponame_str Repositório Institucional da UFBA
collection Repositório Institucional da UFBA
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