Molecular‐pathogenetic classification of genetic disorders of the skeleton
Identifieur interne : 004B48 ( Istex/Corpus ); précédent : 004B47; suivant : 004B49Molecular‐pathogenetic classification of genetic disorders of the skeleton
Auteurs : Andrea Superti-Furga ; Luisa Bonafé ; David L. RimoinSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-12.
Abstract
Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and disparate group of diseases whose unifying features are malformation, disproportionate growth, and deformation of the skeleton or of individual bones or groups of bones. To cope with the large number of different disorders, the “Nosology and Classification of the Osteochondrodysplasias,” based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical–radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular–pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field. © 2002 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.10233
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ISTEX:A0795093CCD7521E9694CFF33E08B719B8B7DC97Le document en format XML
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MED. GENET.)</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">Andrea</forename><surname>Superti‐Furga</surname></persName><email>asuperti@access.unizh.ch</email><affiliation>Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Steinwiesstr. 75, CH‐8032 Zürich, Switzerland.<address><country key="CH"></country></address></affiliation><note type="foot">Andrea Superti‐Furga is Professor of Pediatrics at the University of Zurich and Leitender Arzt at the Division of Metabolism and Molecular Diseases of the University Children's Hospital in Zurich, Switzerland. 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To cope with the large number of different disorders, the “Nosology and Classification of the Osteochondrodysplasias,” based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical–radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular–pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field. © 2002 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">skeleton</term><term xml:id="kwd2">genetic disorders</term><term xml:id="kwd3">molecular</term><term xml:id="kwd4">classification</term><term xml:id="kwd5">pathogenic classification</term></keywords><classCode scheme="articleCategory">Article</classCode><classCode scheme="tocHeading1">Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/A0795093CCD7521E9694CFF33E08B719B8B7DC97/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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To cope with the large number of different disorders, the “Nosology and Classification of the Osteochondrodysplasias,” based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical–radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular–pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field. © 2002 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Andrea Superti‐Furga is Professor of Pediatrics at the University of Zurich and Leitender Arzt at the Division of Metabolism and Molecular Diseases of the University Children's Hospital in Zurich, Switzerland. Dr. Superti‐Furga is involved in clinical care, laboratory diagnosis, teaching, and research in the area of metabolic and genetic pediatrics.</p></note><note xml:id="fn2"><p>Luisa Bonafé, a graduate and board‐certified pediatrician from the University of Padova, Italy, has a strong research interest in amino acid and biopterin disorders and in skeletal dysplasias and is currently a postgraduate fellow with Dr. Superti‐Furga.</p></note><note xml:id="fn3"><p>David L. Rimoin is the Steven Spielberg Chairman of Pediatrics, Director of the Medical Genetics–Birth Defects Center and Director of the International Skeletal Dysplasia Registry at Cedars‐Sinai Medical Center and Professor of Pediatrics and Medicine at UCLA School of Medicine in Los Angeles, California. He is currently President of the American College of Medical Genetics Foundation and was past President of the American Society of Human Genetics, the American College of Medical Genetics, and the American Board of Medical Genetics.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Molecular‐pathogenetic classification of genetic disorders of the skeleton</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Molecular‐pathogenetic classification of genetic disorders of the skeleton</title></titleInfo><name type="personal"><namePart type="given">Andrea</namePart><namePart type="family">Superti‐Furga</namePart><affiliation>Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Steinwiesstr. 75, CH‐8032 Zürich, Switzerland.</affiliation><description>Andrea Superti‐Furga is Professor of Pediatrics at the University of Zurich and Leitender Arzt at the Division of Metabolism and Molecular Diseases of the University Children's Hospital in Zurich, Switzerland. Dr. Superti‐Furga is involved in clinical care, laboratory diagnosis, teaching, and research in the area of metabolic and genetic pediatrics.</description><affiliation>Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Steinwiesstr. 75, CH‐8032 Zürich, Switzerland.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luisa</namePart><namePart type="family">Bonafé</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David L.</namePart><namePart type="family">Rimoin</namePart><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-12</dateIssued><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">99</extent><extent unit="words">8228</extent></physicalDescription><abstract lang="en">Genetic disorders of the skeleton (skeletal dysplasias and dysostoses) are a large and disparate group of diseases whose unifying features are malformation, disproportionate growth, and deformation of the skeleton or of individual bones or groups of bones. To cope with the large number of different disorders, the “Nosology and Classification of the Osteochondrodysplasias,” based on clinical and radiographic features, has been designed and revised periodically. Biochemical and molecular features have been partially implemented in the Nosology, but the rapid accumulation of knowledge on genes and proteins cannot be easily merged into the clinical–radiographic classification. We present here, as a complement to the existing Nosology, a classification of genetic disorders of the skeleton based on the structure and function of the causative genes and proteins. This molecular–pathogenetic classification should be helpful in recognizing metabolic and signaling pathways relevant to skeletal development, in pointing out candidate genes and possible therapeutic targets, and more generally in bringing the clinic closer to the basic science laboratory and in promoting research in this field. © 2002 Wiley‐Liss, Inc.</abstract><note type="funding">Swiss National Science Foundation - No. 31‐57272.99; </note><note type="funding">USPHS NIH - No. HD 22657; </note><note type="funding">The Hartmann‐Müller Foundation</note><subject lang="en"><genre>keywords</genre><topic>skeleton</topic><topic>genetic disorders</topic><topic>molecular</topic><topic>classification</topic><topic>pathogenic classification</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><name type="personal"><namePart type="given">Nicola C.</namePart><namePart type="family">Ho</namePart></name><name type="personal"><namePart type="given">Clair A.</namePart><namePart type="family">Francomano</namePart></name><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2001</date><detail type="title"><title>Latest Developments in Skeletal Dysplasias</title></detail><detail type="volume"><caption>vol.</caption><number>106</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>282</start><end>293</end><total>12</total></extent></part></relatedItem><identifier type="istex">A0795093CCD7521E9694CFF33E08B719B8B7DC97</identifier><identifier type="DOI">10.1002/ajmg.10233</identifier><identifier type="ArticleID">AJMG10233</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2002 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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