Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity</title><author><name sortKey="Boyden, Eric D" sort="Boyden, Eric D" uniqKey="Boyden E" first="Eric D." last="Boyden">Eric D. Boyden</name><affiliation><nlm:aff id="aff1">Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Campos Xavier, A Belinda" sort="Campos Xavier, A Belinda" uniqKey="Campos Xavier A" first="A. Belinda" last="Campos-Xavier">A. Belinda Campos-Xavier</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Kalamajski, Sebastian" sort="Kalamajski, Sebastian" uniqKey="Kalamajski S" first="Sebastian" last="Kalamajski">Sebastian Kalamajski</name><affiliation><nlm:aff id="aff1">Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Cameron, Trevor L" sort="Cameron, Trevor L" uniqKey="Cameron T" first="Trevor L." last="Cameron">Trevor L. Cameron</name><affiliation><nlm:aff id="aff3">Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Suarez, Philippe" sort="Suarez, Philippe" uniqKey="Suarez P" first="Philippe" last="Suarez">Philippe Suarez</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tanackovich, Goranka" sort="Tanackovich, Goranka" uniqKey="Tanackovich G" first="Goranka" last="Tanackovich">Goranka Tanackovich</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name><affiliation><nlm:aff id="aff5">Department of Pediatrics, Federico II University, 80131 Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Ballhausen, Diana" sort="Ballhausen, Diana" uniqKey="Ballhausen D" first="Diana" last="Ballhausen">Diana Ballhausen</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Briggs, Michael D" sort="Briggs, Michael D" uniqKey="Briggs M" first="Michael D." last="Briggs">Michael D. Briggs</name><affiliation><nlm:aff id="aff6">Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Hartley, Claire" sort="Hartley, Claire" uniqKey="Hartley C" first="Claire" last="Hartley">Claire Hartley</name><affiliation><nlm:aff id="aff6">Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Cohn, Daniel H" sort="Cohn, Daniel H" uniqKey="Cohn D" first="Daniel H." last="Cohn">Daniel H. Cohn</name><affiliation><nlm:aff id="aff7">Departments of Molecular, Cell and Developmental Biology and Orthopaedic Surgery, University of California, Los Angeles (UCLA), Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Davidson, H Rosemarie" sort="Davidson, H Rosemarie" uniqKey="Davidson H" first="H. Rosemarie" last="Davidson">H. Rosemarie Davidson</name><affiliation><nlm:aff id="aff8">Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow G3 8SJ, UK</nlm:aff></affiliation></author><author><name sortKey="Hall, Christine" sort="Hall, Christine" uniqKey="Hall C" first="Christine" last="Hall">Christine Hall</name><affiliation><nlm:aff id="aff9">Radiology Department, Institute of Child Health, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff></affiliation></author><author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name><affiliation><nlm:aff id="aff10">Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, Riken, Tokyo 108-8639, Japan</nlm:aff></affiliation></author><author><name sortKey="Jouk, Pierre Simon" sort="Jouk, Pierre Simon" uniqKey="Jouk P" first="Pierre-Simon" last="Jouk">Pierre-Simon Jouk</name><affiliation><nlm:aff id="aff11">Clinical Genetics, Department of Genetics and Procreation, Centre Hospitalier Universitaire, 38043 Grenoble, France</nlm:aff></affiliation></author><author><name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name><affiliation><nlm:aff id="aff12">Institute of Human Genetics, Johann Wolfgang Goethe University Hospital, D-60590 Frankfurt/Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Megarbané">André Megarbané</name><affiliation><nlm:aff id="aff13">Unité de Génétique médicale et Laboratoire associé Institut National de la Santé et de la Recherche Médicale, Université Saint-Joseph, 11-5076 Riad El Solh, Beyrouth, Lebanon</nlm:aff></affiliation></author><author><name sortKey="Nishimura, Gen" sort="Nishimura, Gen" uniqKey="Nishimura G" first="Gen" last="Nishimura">Gen Nishimura</name><affiliation><nlm:aff id="aff14">Department of Radiology and Medical Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo 183-8561, Japan</nlm:aff></affiliation></author><author><name sortKey="Lachman, Ralph S" sort="Lachman, Ralph S" uniqKey="Lachman R" first="Ralph S." last="Lachman">Ralph S. Lachman</name><affiliation><nlm:aff id="aff15">Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation><nlm:aff id="aff16">Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, B-2650 Edegem, Belgium</nlm:aff></affiliation></author><author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name><affiliation><nlm:aff id="aff15">Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Departments of Human Genetics, Pediatrics and Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA</nlm:aff></affiliation></author><author><name sortKey="Rogers, R Curtis" sort="Rogers, R Curtis" uniqKey="Rogers R" first="R. Curtis" last="Rogers">R. Curtis Rogers</name><affiliation><nlm:aff id="aff18">Greenwood Genetic Center, Greenville, SC 29605, USA</nlm:aff></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation><nlm:aff id="aff5">Department of Pediatrics, Federico II University, 80131 Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Sawada, Hirotake" sort="Sawada, Hirotake" uniqKey="Sawada H" first="Hirotake" last="Sawada">Hirotake Sawada</name><affiliation><nlm:aff id="aff19">Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, 5200 Kihara, Miyazaki 889-1692, Japan</nlm:aff></affiliation></author><author><name sortKey="Scott, Richard" sort="Scott, Richard" uniqKey="Scott R" first="Richard" last="Scott">Richard Scott</name><affiliation><nlm:aff id="aff20">Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation><nlm:aff id="aff21">Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Valadares, Eugenia Ribeiro" sort="Valadares, Eugenia Ribeiro" uniqKey="Valadares E" first="Eugenia Ribeiro" last="Valadares">Eugenia Ribeiro Valadares</name><affiliation><nlm:aff id="aff22">Laboratory and Clinic for Inborn Errors Of Metabolism, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais 30130100, Brazil</nlm:aff></affiliation></author><author><name sortKey="Bateman, John F" sort="Bateman, John F" uniqKey="Bateman J" first="John F." last="Bateman">John F. Bateman</name><affiliation><nlm:aff id="aff3">Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><affiliation><nlm:aff id="aff1">Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Bonafe, Luisa" sort="Bonafe, Luisa" uniqKey="Bonafe L" first="Luisa" last="Bonafé">Luisa Bonafé</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22152678</idno><idno type="pmc">3234368</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234368</idno><idno type="RBID">PMC:3234368</idno><idno type="doi">10.1016/j.ajhg.2011.10.016</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001223</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001223</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity</title><author><name sortKey="Boyden, Eric D" sort="Boyden, Eric D" uniqKey="Boyden E" first="Eric D." last="Boyden">Eric D. Boyden</name><affiliation><nlm:aff id="aff1">Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Campos Xavier, A Belinda" sort="Campos Xavier, A Belinda" uniqKey="Campos Xavier A" first="A. Belinda" last="Campos-Xavier">A. Belinda Campos-Xavier</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Kalamajski, Sebastian" sort="Kalamajski, Sebastian" uniqKey="Kalamajski S" first="Sebastian" last="Kalamajski">Sebastian Kalamajski</name><affiliation><nlm:aff id="aff1">Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Cameron, Trevor L" sort="Cameron, Trevor L" uniqKey="Cameron T" first="Trevor L." last="Cameron">Trevor L. Cameron</name><affiliation><nlm:aff id="aff3">Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Suarez, Philippe" sort="Suarez, Philippe" uniqKey="Suarez P" first="Philippe" last="Suarez">Philippe Suarez</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tanackovich, Goranka" sort="Tanackovich, Goranka" uniqKey="Tanackovich G" first="Goranka" last="Tanackovich">Goranka Tanackovich</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Andria, Generoso" sort="Andria, Generoso" uniqKey="Andria G" first="Generoso" last="Andria">Generoso Andria</name><affiliation><nlm:aff id="aff5">Department of Pediatrics, Federico II University, 80131 Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Ballhausen, Diana" sort="Ballhausen, Diana" uniqKey="Ballhausen D" first="Diana" last="Ballhausen">Diana Ballhausen</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Briggs, Michael D" sort="Briggs, Michael D" uniqKey="Briggs M" first="Michael D." last="Briggs">Michael D. Briggs</name><affiliation><nlm:aff id="aff6">Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Hartley, Claire" sort="Hartley, Claire" uniqKey="Hartley C" first="Claire" last="Hartley">Claire Hartley</name><affiliation><nlm:aff id="aff6">Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK</nlm:aff></affiliation></author><author><name sortKey="Cohn, Daniel H" sort="Cohn, Daniel H" uniqKey="Cohn D" first="Daniel H." last="Cohn">Daniel H. Cohn</name><affiliation><nlm:aff id="aff7">Departments of Molecular, Cell and Developmental Biology and Orthopaedic Surgery, University of California, Los Angeles (UCLA), Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Davidson, H Rosemarie" sort="Davidson, H Rosemarie" uniqKey="Davidson H" first="H. Rosemarie" last="Davidson">H. Rosemarie Davidson</name><affiliation><nlm:aff id="aff8">Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow G3 8SJ, UK</nlm:aff></affiliation></author><author><name sortKey="Hall, Christine" sort="Hall, Christine" uniqKey="Hall C" first="Christine" last="Hall">Christine Hall</name><affiliation><nlm:aff id="aff9">Radiology Department, Institute of Child Health, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff></affiliation></author><author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name><affiliation><nlm:aff id="aff10">Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, Riken, Tokyo 108-8639, Japan</nlm:aff></affiliation></author><author><name sortKey="Jouk, Pierre Simon" sort="Jouk, Pierre Simon" uniqKey="Jouk P" first="Pierre-Simon" last="Jouk">Pierre-Simon Jouk</name><affiliation><nlm:aff id="aff11">Clinical Genetics, Department of Genetics and Procreation, Centre Hospitalier Universitaire, 38043 Grenoble, France</nlm:aff></affiliation></author><author><name sortKey="Konig, Rainer" sort="Konig, Rainer" uniqKey="Konig R" first="Rainer" last="König">Rainer König</name><affiliation><nlm:aff id="aff12">Institute of Human Genetics, Johann Wolfgang Goethe University Hospital, D-60590 Frankfurt/Main, Germany</nlm:aff></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Megarbané">André Megarbané</name><affiliation><nlm:aff id="aff13">Unité de Génétique médicale et Laboratoire associé Institut National de la Santé et de la Recherche Médicale, Université Saint-Joseph, 11-5076 Riad El Solh, Beyrouth, Lebanon</nlm:aff></affiliation></author><author><name sortKey="Nishimura, Gen" sort="Nishimura, Gen" uniqKey="Nishimura G" first="Gen" last="Nishimura">Gen Nishimura</name><affiliation><nlm:aff id="aff14">Department of Radiology and Medical Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo 183-8561, Japan</nlm:aff></affiliation></author><author><name sortKey="Lachman, Ralph S" sort="Lachman, Ralph S" uniqKey="Lachman R" first="Ralph S." last="Lachman">Ralph S. Lachman</name><affiliation><nlm:aff id="aff15">Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation><nlm:aff id="aff16">Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, B-2650 Edegem, Belgium</nlm:aff></affiliation></author><author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name><affiliation><nlm:aff id="aff15">Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Departments of Human Genetics, Pediatrics and Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA</nlm:aff></affiliation></author><author><name sortKey="Rogers, R Curtis" sort="Rogers, R Curtis" uniqKey="Rogers R" first="R. Curtis" last="Rogers">R. Curtis Rogers</name><affiliation><nlm:aff id="aff18">Greenwood Genetic Center, Greenville, SC 29605, USA</nlm:aff></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation><nlm:aff id="aff5">Department of Pediatrics, Federico II University, 80131 Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Sawada, Hirotake" sort="Sawada, Hirotake" uniqKey="Sawada H" first="Hirotake" last="Sawada">Hirotake Sawada</name><affiliation><nlm:aff id="aff19">Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, 5200 Kihara, Miyazaki 889-1692, Japan</nlm:aff></affiliation></author><author><name sortKey="Scott, Richard" sort="Scott, Richard" uniqKey="Scott R" first="Richard" last="Scott">Richard Scott</name><affiliation><nlm:aff id="aff20">Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK</nlm:aff></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation><nlm:aff id="aff21">Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Valadares, Eugenia Ribeiro" sort="Valadares, Eugenia Ribeiro" uniqKey="Valadares E" first="Eugenia Ribeiro" last="Valadares">Eugenia Ribeiro Valadares</name><affiliation><nlm:aff id="aff22">Laboratory and Clinic for Inborn Errors Of Metabolism, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais 30130100, Brazil</nlm:aff></affiliation></author><author><name sortKey="Bateman, John F" sort="Bateman, John F" uniqKey="Bateman J" first="John F." last="Bateman">John F. Bateman</name><affiliation><nlm:aff id="aff3">Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Warman, Matthew L" sort="Warman, Matthew L" uniqKey="Warman M" first="Matthew L." last="Warman">Matthew L. Warman</name><affiliation><nlm:aff id="aff1">Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Bonafe, Luisa" sort="Bonafe, Luisa" uniqKey="Bonafe L" first="Luisa" last="Bonafé">Luisa Bonafé</name><affiliation><nlm:aff id="aff2">Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in <italic>KIF22</italic> as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found <italic>Kif22</italic> to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22152678</article-id><article-id pub-id-type="pmc">3234368</article-id><article-id pub-id-type="publisher-id">AJHG1008</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2011.10.016</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Boyden</surname><given-names>Eric D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">24</xref></contrib><contrib contrib-type="author"><name><surname>Campos-Xavier</surname><given-names>A. Belinda</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">24</xref></contrib><contrib contrib-type="author"><name><surname>Kalamajski</surname><given-names>Sebastian</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">24</xref></contrib><contrib contrib-type="author"><name><surname>Cameron</surname><given-names>Trevor L.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Suarez</surname><given-names>Philippe</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Tanackovich</surname><given-names>Goranka</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Andria</surname><given-names>Generoso</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Ballhausen</surname><given-names>Diana</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Briggs</surname><given-names>Michael D.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Hartley</surname><given-names>Claire</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Cohn</surname><given-names>Daniel H.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Davidson</surname><given-names>H. Rosemarie</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Hall</surname><given-names>Christine</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Ikegawa</surname><given-names>Shiro</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Jouk</surname><given-names>Pierre-Simon</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>König</surname><given-names>Rainer</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Megarbané</surname><given-names>André</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Nishimura</surname><given-names>Gen</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Lachman</surname><given-names>Ralph S.</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Mortier</surname><given-names>Geert</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Rimoin</surname><given-names>David L.</given-names></name><xref rid="aff15" ref-type="aff">15</xref><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Rogers</surname><given-names>R. Curtis</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Rossi</surname><given-names>Massimiliano</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Sawada</surname><given-names>Hirotake</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>Richard</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Unger</surname><given-names>Sheila</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Valadares</surname><given-names>Eugenia Ribeiro</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Bateman</surname><given-names>John F.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Warman</surname><given-names>Matthew L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Bonafé</surname><given-names>Luisa</given-names></name><email>luisa.bonafe@chuv.ch</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Children's Hospital Boston, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA</aff><aff id="aff2"><label>2</label>Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</aff><aff id="aff3"><label>3</label>Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</aff><aff id="aff4"><label>4</label>Department of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland</aff><aff id="aff5"><label>5</label>Department of Pediatrics, Federico II University, 80131 Naples, Italy</aff><aff id="aff6"><label>6</label>Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK</aff><aff id="aff7"><label>7</label>Departments of Molecular, Cell and Developmental Biology and Orthopaedic Surgery, University of California, Los Angeles (UCLA), Los Angeles, CA 90048, USA</aff><aff id="aff8"><label>8</label>Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow G3 8SJ, UK</aff><aff id="aff9"><label>9</label>Radiology Department, Institute of Child Health, Great Ormond Street Hospital, London WC1N 3JH, UK</aff><aff id="aff10"><label>10</label>Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, Riken, Tokyo 108-8639, Japan</aff><aff id="aff11"><label>11</label>Clinical Genetics, Department of Genetics and Procreation, Centre Hospitalier Universitaire, 38043 Grenoble, France</aff><aff id="aff12"><label>12</label>Institute of Human Genetics, Johann Wolfgang Goethe University Hospital, D-60590 Frankfurt/Main, Germany</aff><aff id="aff13"><label>13</label>Unité de Génétique médicale et Laboratoire associé Institut National de la Santé et de la Recherche Médicale, Université Saint-Joseph, 11-5076 Riad El Solh, Beyrouth, Lebanon</aff><aff id="aff14"><label>14</label>Department of Radiology and Medical Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo 183-8561, Japan</aff><aff id="aff15"><label>15</label>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</aff><aff id="aff16"><label>16</label>Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, B-2650 Edegem, Belgium</aff><aff id="aff17"><label>17</label>Departments of Human Genetics, Pediatrics and Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA</aff><aff id="aff18"><label>18</label>Greenwood Genetic Center, Greenville, SC 29605, USA</aff><aff id="aff19"><label>19</label>Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, 5200 Kihara, Miyazaki 889-1692, Japan</aff><aff id="aff20"><label>20</label>Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK</aff><aff id="aff21"><label>21</label>Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland</aff><aff id="aff22"><label>22</label>Laboratory and Clinic for Inborn Errors Of Metabolism, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais 30130100, Brazil</aff><aff id="aff23"><label>23</label>Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3052, Australia</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>luisa.bonafe@chuv.ch</email></corresp><fn id="fn1"><label>24</label><p>These authors contributed equally to this paper</p></fn></author-notes><pub-date pub-type="ppub"><day>09</day><month>12</month><year>2011</year></pub-date><volume>89</volume><issue>6</issue><fpage>767</fpage><lpage>772</lpage><history><date date-type="received"><day>7</day><month>9</month><year>2011</year></date><date date-type="rev-recd"><day>27</day><month>10</month><year>2011</year></date><date date-type="accepted"><day>31</day><month>10</month><year>2011</year></date></history><permissions><copyright-statement>© 2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in <italic>KIF22</italic> as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found <italic>Kif22</italic> to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001223 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001223 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.33. |  |