Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

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dc.contributor.author Reichenberger, E.
dc.contributor.author Tiziani, Valdenize [UNIFESP]
dc.contributor.author Watanabe, S.
dc.contributor.author Park, L.
dc.contributor.author Ueki, Y.
dc.contributor.author Santanna, C.
dc.contributor.author Baur, S. T.
dc.contributor.author Shiang, R.
dc.contributor.author Grange, D. K.
dc.contributor.author Beighton, P.
dc.contributor.author Gardner, J.
dc.contributor.author Hamersma, H.
dc.contributor.author Sellars, S.
dc.contributor.author Ramesar, R.
dc.contributor.author Lidral, A. C.
dc.contributor.author Sommer, A.
dc.contributor.author Amaral, Cássio Menezes Raposo do [UNIFESP]
dc.contributor.author Gorlin, R. J.
dc.contributor.author Mulliken, J. B.
dc.contributor.author Olsen, B. R.
dc.date.accessioned 2016-01-24T12:31:24Z
dc.date.available 2016-01-24T12:31:24Z
dc.date.issued 2001-06-01
dc.identifier http://dx.doi.org/10.1086/320612
dc.identifier.citation American Journal of Human Genetics. Chicago: Univ Chicago Press, v. 68, n. 6, p. 1321-1326, 2001.
dc.identifier.issn 0002-9297
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/26561
dc.description.abstract Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an similar to5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954. Mutational analysis of positional candidate genes was performed, and we describe herein three different mutations, in five different families and in isolated cases, in ANK, a multipass transmembrane protein involved in the transport of intracellular pyrophosphate into extracellular matrix. the mutations are two in-frame deletions and one in-frame insertion caused by a splicing defect. All mutations cluster within seven amino acids in one of the six possible cytosolic domains of ANK. These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization. en
dc.format.extent 1321-1326
dc.language.iso eng
dc.publisher Univ Chicago Press
dc.relation.ispartof American Journal of Human Genetics
dc.rights Acesso aberto
dc.title Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK en
dc.type Artigo
dc.contributor.institution Harvard Sch Dent Med
dc.contributor.institution Harvard Univ
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Inst Cirurg Plast Craniofacial SOBRAPAR
dc.contributor.institution Showa Univ
dc.contributor.institution Virginia Commonwealth Univ
dc.contributor.institution St Louis Univ
dc.contributor.institution Univ Cape Town
dc.contributor.institution Ohio State Univ
dc.contributor.institution Childrens Hosp
dc.contributor.institution Univ Minnesota
dc.description.affiliation Harvard Sch Dent Med, Forsyth Inst, Harvard Forsyth Dept Oral Biol, Boston, MA 02115 USA
dc.description.affiliation Harvard Univ, Sch Med, Childrens Hosp, Dept Cell Biol, Boston, MA USA
dc.description.affiliation Harvard Univ, Sch Med, Childrens Hosp, Dept Genet, Boston, MA USA
dc.description.affiliation Harvard Univ, Sch Med, Childrens Hosp, Div Plast Surg, Boston, MA USA
dc.description.affiliation Universidade Federal de São Paulo, EPM, Campinas, SP, Brazil
dc.description.affiliation Inst Cirurg Plast Craniofacial SOBRAPAR, Campinas, SP, Brazil
dc.description.affiliation Showa Univ, Sch Med, Dept Plast & Reconstruct Surg, Tokyo 142, Japan
dc.description.affiliation Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USA
dc.description.affiliation St Louis Univ, Sch Med, Cardinal Glennon Childrens Hosp, Div Med Genet, St Louis, MO 63104 USA
dc.description.affiliation Univ Cape Town, Sch Med, Dept Human Genet, ZA-7925 Cape Town, South Africa
dc.description.affiliation Ohio State Univ, Coll Dent, Dept Orthodont, Columbus, OH 43210 USA
dc.description.affiliation Childrens Hosp, Dept Genet, Columbus, OH 43205 USA
dc.description.affiliation Univ Minnesota, Sch Dent, Dept Oral Biol & Genet, Minneapolis, MN 55455 USA
dc.description.affiliationUnifesp Universidade Federal de São Paulo, EPM, Campinas, SP, Brazil
dc.identifier.file WOS000169094600002.pdf
dc.identifier.doi 10.1086/320612
dc.description.source Web of Science
dc.identifier.wos WOS:000169094600002



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