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Fibrilina 1 – Wikipédia, a enciclopédia livre

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</div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Fibrilina 1</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Ir para um artigo noutra língua. Disponível em 13 línguas" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-13" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">13 línguas</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%A5%D9%81_%D8%A8%D9%8A_%D8%A5%D9%86_1" title="إف بي إن 1 — árabe" lang="ar" hreflang="ar" data-title="إف بي إن 1" data-language-autonym="العربية" data-language-local-name="árabe" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-arz mw-list-item"><a href="https://arz.wikipedia.org/wiki/%D8%A7%D9%81_%D8%A8%D9%89_%D8%A7%D9%86_1" title="اف بى ان 1 — Egyptian Arabic" lang="arz" hreflang="arz" data-title="اف بى ان 1" data-language-autonym="مصرى" data-language-local-name="Egyptian Arabic" class="interlanguage-link-target"><span>مصرى</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Fibrilin-1" title="Fibrilin-1 — bósnio" lang="bs" hreflang="bs" data-title="Fibrilin-1" data-language-autonym="Bosanski" data-language-local-name="bósnio" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-cy mw-list-item"><a href="https://cy.wikipedia.org/wiki/FBN1" title="FBN1 — galês" lang="cy" hreflang="cy" data-title="FBN1" data-language-autonym="Cymraeg" data-language-local-name="galês" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-en mw-list-item"><a href="https://en.wikipedia.org/wiki/Fibrillin-1" title="Fibrillin-1 — inglês" lang="en" hreflang="en" data-title="Fibrillin-1" data-language-autonym="English" data-language-local-name="inglês" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Fibrilina_1" title="Fibrilina 1 — espanhol" lang="es" hreflang="es" data-title="Fibrilina 1" data-language-autonym="Español" data-language-local-name="espanhol" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%81%DB%8C%D8%A8%D8%B1%DB%8C%D9%84%DB%8C%D9%86_%DB%B1" title="فیبریلین ۱ — persa" lang="fa" hreflang="fa" data-title="فیبریلین ۱" data-language-autonym="فارسی" data-language-local-name="persa" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/FBN1" title="FBN1 — finlandês" lang="fi" hreflang="fi" data-title="FBN1" data-language-autonym="Suomi" data-language-local-name="finlandês" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Fibrilline_1" title="Fibrilline 1 — francês" lang="fr" hreflang="fr" data-title="Fibrilline 1" data-language-autonym="Français" data-language-local-name="francês" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/FBN1" title="FBN1 — indonésio" lang="id" hreflang="id" data-title="FBN1" data-language-autonym="Bahasa Indonesia" data-language-local-name="indonésio" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%95%E3%82%A3%E3%83%96%E3%83%AA%E3%83%AA%E3%83%B31" title="フィブリリン1 — japonês" lang="ja" hreflang="ja" data-title="フィブリリン1" data-language-autonym="日本語" data-language-local-name="japonês" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Fibrillin_1" title="Fibrillin 1 — turco" lang="tr" hreflang="tr" data-title="Fibrillin 1" data-language-autonym="Türkçe" data-language-local-name="turco" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A4%D1%96%D0%B1%D1%80%D0%B8%D0%BB%D1%96%D0%BD-1" title="Фібрилін-1 — ucraniano" lang="uk" hreflang="uk" data-title="Фібрилін-1" data-language-autonym="Українська" data-language-local-name="ucraniano" class="interlanguage-link-target"><span>Українська</span></a></li> </ul> <div class="after-portlet 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data-pinned-container-id="vector-appearance-pinned-container" data-unpinned-container-id="vector-appearance-unpinned-container" > <div class="vector-pinnable-header-label">Aspeto</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">mover para a barra lateral</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">ocultar</button> </div> </div> </div> </nav> </div> </div> <div id="bodyContent" class="vector-body" aria-labelledby="firstHeading" data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">Origem: Wikipédia, a enciclopédia livre.</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="pt" dir="ltr"><figure typeof="mw:File/Thumb"><a href="/wiki/Ficheiro:Protein_FBN1_PDB_1apj.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/9/95/Protein_FBN1_PDB_1apj.png/250px-Protein_FBN1_PDB_1apj.png" decoding="async" width="250" height="240" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/9/95/Protein_FBN1_PDB_1apj.png/375px-Protein_FBN1_PDB_1apj.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/9/95/Protein_FBN1_PDB_1apj.png/500px-Protein_FBN1_PDB_1apj.png 2x" data-file-width="630" data-file-height="606" /></a><figcaption>Estrutura da proteína FBN1 com base na renderização <a href="/wiki/PyMOL" title="PyMOL">PyMOL</a> do <a href="/wiki/Protein_Data_Bank" title="Protein Data Bank">Banco de Dados de Proteínas</a> (PDB).</figcaption></figure> <p><b>Fibrilina 1</b> ou <b>FBN1</b> é uma <a href="/wiki/Prote%C3%ADna" title="Proteína">proteína</a> que em humanos é codificada pelo gene <i>FBN1</i>, localizado no <a href="/wiki/Cromossomo_15" class="mw-redirect" title="Cromossomo 15">cromossomo 15</a>.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span>[</span>1<span>]</span></a></sup><sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span>[</span>2<span>]</span></a></sup> </p><p>Este gene codifica um membro da família da <a href="/wiki/Fibrilina" title="Fibrilina">fibrilina</a>. A proteína codificada é uma <a href="/wiki/Glicoprote%C3%ADna" title="Glicoproteína">glicoproteína</a> grande da matriz extracelular que serve como componente estrutural de microfibrilhas. Estas microfibrilhas providenciam suporte estrutural em tecidos conectivos elásticos e não-elásticos, por todo o corpo. Mutações neste gene estão associadas com a <a href="/wiki/S%C3%ADndrome_de_Marfan" title="Síndrome de Marfan">síndrome de Marfan</a>, <a href="/w/index.php?title=Ectopia_lentis&amp;action=edit&amp;redlink=1" class="new" title="Ectopia lentis (página não existe)">ectopia lentis</a> isolada, a <a href="/w/index.php?title=S%C3%ADndrome_de_Weill-Marchesani&amp;action=edit&amp;redlink=1" class="new" title="Síndrome de Weill-Marchesani (página não existe)">síndrome de Weill-Marchesani</a> e a <a href="/w/index.php?title=S%C3%ADndrome_de_Shprintzen-Goldberg&amp;action=edit&amp;redlink=1" class="new" title="Síndrome de Shprintzen-Goldberg (página não existe)">síndrome de Shprintzen-Goldberg</a>.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span>[</span>3<span>]</span></a></sup> </p> <h2 id="Referências" style="cursor: help;" title="Esta seção foi configurada para não ser editável diretamente. Edite a página toda ou a seção anterior em vez disso."><span id="Refer.C3.AAncias"></span>Referências</h2> <div class="reflist" style="list-style-type: decimal;"><div class="mw-references-wrap"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><a href="#cite_ref-1">↑</a></span> <span class="reference-text"><cite class="citation journal">Biery, N J; Eldadah, Z A; Moore, C S; et. al (15 de fevereiro de 1999). <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10036187/">«Revised genomic organization of FBN1 and significance for regulated gene expression»</a>. Genomics. <b>56</b> (1): 70–7. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/10036187">10036187</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1006%2Fgeno.1998.5697">10.1006/geno.1998.5697</a><span class="reference-accessdate">. Consultado em 22 de novembro de 2020</span></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Revised+genomic+organization+of+FBN1+and+significance+for+regulated+gene+expression&amp;rft.au=Eldadah%2C+Z+A&amp;rft.au=Moore%2C+C+S%3B+et.+al&amp;rft.aufirst=N+J&amp;rft.aulast=Biery&amp;rft.date=1999-02-15&amp;rft.genre=article&amp;rft.issue=1&amp;rft.pages=70-7&amp;rft.volume=56&amp;rft_id=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F10036187%2F&amp;rft_id=info%3Adoi%2F10.1006%2Fgeno.1998.5697&amp;rft_id=info%3Apmid%2F10036187&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span></span> </li> <li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text"><cite class="citation journal">Faivre, L; Gorlin, R J; Wirtz, M K; et al. (Janeiro de 2003). <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/12525539/">«In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome»</a>. Journal of Medical Genetics. <b>40</b> (1): 34–6. <a href="/wiki/PubMed_Central" title="PubMed Central">PMC</a>&#160;<span class="plainlinks"><a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pmc/articles/PMC1735272">1735272</a><span style="margin-left:0.1em"><span typeof="mw:File"><span title="Acessível livremente"><img alt="Acessível livremente" src="//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png" decoding="async" width="9" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/14px-Lock-green.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/18px-Lock-green.svg.png 2x" data-file-width="512" data-file-height="813" /></span></span></span></span>. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/12525539">12525539</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1136%2Fjmg.40.1.34">10.1136/jmg.40.1.34</a><span class="reference-accessdate">. Consultado em 22 de novembro de 2020</span></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=In+frame+fibrillin-1+gene+deletion+in+autosomal+dominant+Weill-Marchesani+syndrome&amp;rft.au=Gorlin%2C+R+J&amp;rft.au=Wirtz%2C+M+K&amp;rft.aufirst=L&amp;rft.aulast=Faivre&amp;rft.date=2003-01&amp;rft.genre=article&amp;rft.issue=1&amp;rft.pages=34-6&amp;rft.volume=40&amp;rft_id=%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1735272&amp;rft_id=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F12525539%2F&amp;rft_id=info%3Adoi%2F10.1136%2Fjmg.40.1.34&amp;rft_id=info%3Apmid%2F12525539&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span><span class="citation-comment" style="display:none; color:#33aa33"> !CS1 manut: Uso explícito de et al. (<a href="/wiki/Categoria:!CS1_manut:_Uso_expl%C3%ADcito_de_et_al." title="Categoria:!CS1 manut: Uso explícito de et al.">link</a>)</span></span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><a href="#cite_ref-3">↑</a></span> <span class="reference-text"><cite class="citation web"><a rel="nofollow" class="external text" href="http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&amp;Cmd=ShowDetailView&amp;TermToSearch=2200">«Entrez Gene: FBN1 fibrillin 1»</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.btitle=Entrez+Gene%3A+FBN1+fibrillin+1&amp;rft.genre=unknown&amp;rft_id=http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fsites%2Fentrez%3FDb%3Dgene%26Cmd%3DShowDetailView%26TermToSearch%3D2200&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook" class="Z3988"><span style="display:none;">&#160;</span></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Leitura_adicional">Leitura adicional</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fibrilina_1&amp;veaction=edit&amp;section=1" title="Editar secção: Leitura adicional" class="mw-editsection-visualeditor"><span>editar</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fibrilina_1&amp;action=edit&amp;section=1" title="Editar código-fonte da secção: Leitura adicional"><span>editar código-fonte</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><cite class="citation journal">Hayward C, Brock DJ (1998). «Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.». <i>Hum. Mutat</i>. <b>10</b> (6): 415–23. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/9401003">9401003</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A6%3C415%3A%3AAID-HUMU1%3E3.0.CO%3B2-C">10.1002/(SICI)1098-1004(1997)10:6&#60;415::AID-HUMU1&#62;3.0.CO&#59;2-C</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Fibrillin-1+mutations+in+Marfan+syndrome+and+other+type-1+fibrillinopathies.&amp;rft.au=Hayward+C%2C+Brock+DJ&amp;rft.date=1998&amp;rft.genre=article&amp;rft.issue=6&amp;rft.jtitle=Hum.+Mutat.&amp;rft.pages=415-23&amp;rft.volume=10&amp;rft_id=info%3Adoi%2F10.1002%2F%28SICI%291098-1004%281997%2910%3A6%3C415%3A%3AAID-HUMU1%3E3.0.CO%3B2-C&amp;rft_id=info%3Apmid%2F9401003&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span></li> <li><cite class="citation journal">Robinson PN, Godfrey M (2000). «The molecular genetics of Marfan syndrome and related microfibrillopathies.». <i>J. Med. Genet</i>. <b>37</b> (1): 9–25. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/10633129">10633129</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1136%2Fjmg.37.1.9">10.1136/jmg.37.1.9</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=The+molecular+genetics+of+Marfan+syndrome+and+related+microfibrillopathies.&amp;rft.au=Robinson+PN%2C+Godfrey+M&amp;rft.date=2000&amp;rft.genre=article&amp;rft.issue=1&amp;rft.jtitle=J.+Med.+Genet.&amp;rft.pages=9-25&amp;rft.volume=37&amp;rft_id=info%3Adoi%2F10.1136%2Fjmg.37.1.9&amp;rft_id=info%3Apmid%2F10633129&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span></li> <li><cite class="citation journal">Handford PA (2001). «Fibrillin-1, a calcium binding protein of extracellular matrix.». <i>Biochim. Biophys. Acta</i>. <b>1498</b> (2-3): 84–90. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/11108952">11108952</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Fibrillin-1%2C+a+calcium+binding+protein+of+extracellular+matrix.&amp;rft.au=Handford+PA&amp;rft.date=2001&amp;rft.genre=article&amp;rft.issue=2-3&amp;rft.jtitle=Biochim.+Biophys.+Acta&amp;rft.pages=84-90&amp;rft.volume=1498&amp;rft_id=info%3Apmid%2F11108952&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span></li> <li><cite class="citation journal">Robinson PN, Booms P, Katzke S; et al. (2002). «Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.». <i>Hum. Mutat</i>. <b>20</b> (3): 153–61. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/12203987">12203987</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1002%2Fhumu.10113">10.1002/humu.10113</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Mutations+of+FBN1+and+genotype-phenotype+correlations+in+Marfan+syndrome+and+related+fibrillinopathies.&amp;rft.au=Robinson+PN%2C+Booms+P%2C+Katzke+S&amp;rft.date=2002&amp;rft.genre=article&amp;rft.issue=3&amp;rft.jtitle=Hum.+Mutat.&amp;rft.pages=153-61&amp;rft.volume=20&amp;rft_id=info%3Adoi%2F10.1002%2Fhumu.10113&amp;rft_id=info%3Apmid%2F12203987&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span><span class="citation-comment" style="display:none; color:#33aa33"> !CS1 manut: Uso explícito de et al. (<a href="/wiki/Categoria:!CS1_manut:_Uso_expl%C3%ADcito_de_et_al." title="Categoria:!CS1 manut: Uso explícito de et al.">link</a>) !CS1 manut: Nomes múltiplos: lista de autores (<a href="/wiki/Categoria:!CS1_manut:_Nomes_m%C3%BAltiplos:_lista_de_autores" title="Categoria:!CS1 manut: Nomes múltiplos: lista de autores">link</a>)</span></li> <li><cite class="citation journal">Adès LC, Holman KJ, Brett MS; et al. (2004). «Ectopia lentis phenotypes and the FBN1 gene.». <i>Am. J. Med. Genet. A</i>. <b>126</b> (3): 284–9. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/15054843">15054843</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1002%2Fajmg.a.20605">10.1002/ajmg.a.20605</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Ectopia+lentis+phenotypes+and+the+FBN1+gene.&amp;rft.au=Ad%C3%A8s+LC%2C+Holman+KJ%2C+Brett+MS&amp;rft.date=2004&amp;rft.genre=article&amp;rft.issue=3&amp;rft.jtitle=Am.+J.+Med.+Genet.+A&amp;rft.pages=284-9&amp;rft.volume=126&amp;rft_id=info%3Adoi%2F10.1002%2Fajmg.a.20605&amp;rft_id=info%3Apmid%2F15054843&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span><span class="citation-comment" style="display:none; color:#33aa33"> !CS1 manut: Uso explícito de et al. (<a href="/wiki/Categoria:!CS1_manut:_Uso_expl%C3%ADcito_de_et_al." title="Categoria:!CS1 manut: Uso explícito de et al.">link</a>) !CS1 manut: Nomes múltiplos: lista de autores (<a href="/wiki/Categoria:!CS1_manut:_Nomes_m%C3%BAltiplos:_lista_de_autores" title="Categoria:!CS1 manut: Nomes múltiplos: lista de autores">link</a>)</span></li> <li><cite class="citation journal">Milewicz DM, Dietz HC, Miller DC (2005). «Treatment of aortic disease in patients with Marfan syndrome.». <i>Circulation</i>. <b>111</b> (11): e150–7. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/15781745">15781745</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1161%2F01.CIR.0000155243.70456.F4">10.1161/01.CIR.0000155243.70456.F4</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Treatment+of+aortic+disease+in+patients+with+Marfan+syndrome.&amp;rft.au=Milewicz+DM%2C+Dietz+HC%2C+Miller+DC&amp;rft.date=2005&amp;rft.genre=article&amp;rft.issue=11&amp;rft.jtitle=Circulation&amp;rft.pages=e150-7&amp;rft.volume=111&amp;rft_id=info%3Adoi%2F10.1161%2F01.CIR.0000155243.70456.F4&amp;rft_id=info%3Apmid%2F15781745&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span><span class="citation-comment" style="display:none; color:#33aa33"> !CS1 manut: Nomes múltiplos: lista de autores (<a href="/wiki/Categoria:!CS1_manut:_Nomes_m%C3%BAltiplos:_lista_de_autores" title="Categoria:!CS1 manut: Nomes múltiplos: lista de autores">link</a>)</span></li> <li><cite class="citation journal">Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005). «Molecular genetics of Marfan syndrome.». <i>Curr. Opin. Cardiol</i>. <b>20</b> (3): 194–200. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/15861007">15861007</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1097%2F01.hco.0000162398.21972.cd">10.1097/01.hco.0000162398.21972.cd</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Molecular+genetics+of+Marfan+syndrome.&amp;rft.au=Boileau+C%2C+Jondeau+G%2C+Mizuguchi+T%2C+Matsumoto+N&amp;rft.date=2005&amp;rft.genre=article&amp;rft.issue=3&amp;rft.jtitle=Curr.+Opin.+Cardiol.&amp;rft.pages=194-200&amp;rft.volume=20&amp;rft_id=info%3Adoi%2F10.1097%2F01.hco.0000162398.21972.cd&amp;rft_id=info%3Apmid%2F15861007&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span><span class="citation-comment" style="display:none; color:#33aa33"> !CS1 manut: Nomes múltiplos: lista de autores (<a href="/wiki/Categoria:!CS1_manut:_Nomes_m%C3%BAltiplos:_lista_de_autores" title="Categoria:!CS1 manut: Nomes múltiplos: lista de autores">link</a>)</span></li> <li><cite class="citation journal">Whiteman P, Hutchinson S, Handford PA (2006). «Fibrillin-1 misfolding and disease.». <i>Antioxid. Redox Signal</i>. <b>8</b> (3-4): 338–46. <a href="/wiki/PubMed_Identifier" class="mw-redirect" title="PubMed Identifier">PMID</a>&#160;<a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/16677079">16677079</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">doi</a>:<a rel="nofollow" class="external text" href="https://dx.doi.org/10.1089%2Fars.2006.8.338">10.1089/ars.2006.8.338</a></cite><span title="ctx_ver=Z39.88-2004&amp;rfr_id=info%3Asid%2Fpt.wikipedia.org%3AFibrilina+1&amp;rft.atitle=Fibrillin-1+misfolding+and+disease.&amp;rft.au=Whiteman+P%2C+Hutchinson+S%2C+Handford+PA&amp;rft.date=2006&amp;rft.genre=article&amp;rft.issue=3-4&amp;rft.jtitle=Antioxid.+Redox+Signal.&amp;rft.pages=338-46&amp;rft.volume=8&amp;rft_id=info%3Adoi%2F10.1089%2Fars.2006.8.338&amp;rft_id=info%3Apmid%2F16677079&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;">&#160;</span></span><span class="citation-comment" style="display:none; color:#33aa33"> !CS1 manut: Nomes múltiplos: lista de autores (<a href="/wiki/Categoria:!CS1_manut:_Nomes_m%C3%BAltiplos:_lista_de_autores" title="Categoria:!CS1 manut: Nomes múltiplos: lista de autores">link</a>)</span></li></ul> <div role="navigation" class="navbox" aria-labelledby="Histologia:_Tecido_conjuntivo" style="padding:3px"><table class="nowraplinks collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background:antiquewhite"><div class="plainlinks hlist navbar mini"><ul><li class="nv-ver"><a href="/wiki/Predefini%C3%A7%C3%A3o:Tecido_conjuntivo" title="Predefinição:Tecido conjuntivo"><abbr title="Ver esta predefinição" style=";background:antiquewhite;background:none transparent;border:none;-moz-box-shadow:none;-webkit-box-shadow:none;box-shadow:none; padding:0;">v</abbr></a></li><li class="nv-discutir"><a href="/w/index.php?title=Predefini%C3%A7%C3%A3o_Discuss%C3%A3o:Tecido_conjuntivo&amp;action=edit&amp;redlink=1" class="new" title="Predefinição Discussão:Tecido conjuntivo (página não existe)"><abbr title="Discutir esta predefinição" style=";background:antiquewhite;background:none transparent;border:none;-moz-box-shadow:none;-webkit-box-shadow:none;box-shadow:none; 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<a href="/wiki/Tecido_%C3%B3sseo" title="Tecido ósseo">Osso</a>&#160;<b>&#183;</b>&#32; <a href="/wiki/Tecido_sangu%C3%ADneo" class="mw-redirect" title="Tecido sanguíneo">Sangue</a>&#160;<b>&#183;</b>&#32; <a href="/wiki/Tend%C3%A3o" title="Tendão">Tendão</a></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen">Composição</th><td class="navbox-list navbox-odd" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen"><a href="/wiki/Matriz_extracelular" title="Matriz extracelular">Matriz<br />extracelular</a><br />(não celular)</th><td class="navbox-list navbox-odd" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen"><a href="/wiki/Subst%C3%A2ncia_intercelular" title="Substância intercelular">Substância intercelular</a></th><td class="navbox-list navbox-even" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/wiki/Fluido_intersticial" title="Fluido intersticial">Fluido intersticial</a></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen">Fibras</th><td class="navbox-list navbox-odd" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/wiki/Fibra_reticular" title="Fibra reticular">Fibras reticulares</a>: <a href="/wiki/Col%C3%A1geno" title="Colágeno">Colágeno</a><br /> <a href="/wiki/Fibra_el%C3%A1stica" title="Fibra elástica">fibras elásticas</a>: <a href="/wiki/Fibrilina" title="Fibrilina">Fibrilina</a> (<a class="mw-selflink selflink">FBN1</a>, <a href="/w/index.php?title=FBN2&amp;action=edit&amp;redlink=1" class="new" title="FBN2 (página não existe)">FBN2</a>, <a href="/w/index.php?title=FBN3&amp;action=edit&amp;redlink=1" class="new" title="FBN3 (página não existe)">FBN3</a>)</div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen">Células</th><td class="navbox-list navbox-odd" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen">Residentes</th><td class="navbox-list navbox-even" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/wiki/Fibroblasto" title="Fibroblasto">Fibroblasto</a>&#160;<b>&#183;</b>&#32; <a href="/wiki/Adip%C3%B3cito" title="Adipócito">Adipócito</a>&#160;<b>&#183;</b>&#32; <a href="/wiki/Condroblasto" title="Condroblasto">Condroblasto</a>&#160;<b>&#183;</b>&#32; <a href="/wiki/Osteoblasto" title="Osteoblasto">Osteoblasto</a>&#160;<b>&#183;</b>&#32; <a href="/w/index.php?title=Ten%C3%B3cito&amp;action=edit&amp;redlink=1" class="new" title="Tenócito (página não existe)">Tenócito</a></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background-color: Linen"><a href="/wiki/C%C3%A9lula_ameboide" title="Célula ameboide">Ameboides</a></th><td class="navbox-list navbox-odd" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/wiki/Mast%C3%B3cito" title="Mastócito">Mastócito</a>&#160;<b>&#183;</b>&#32; <a href="/wiki/Macr%C3%B3fago" title="Macrófago">Macrófago</a></div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div role="navigation" class="navbox" aria-labelledby="Identificadores" style="padding:3px"><table class="nowraplinks hlist navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th id="Identificadores" scope="row" class="navbox-group" style="width:1%;width: 12%; text-align:center;">Identificadores</th><td class="navbox-list navbox-odd plainlinks" style="text-align:left;border-left-width:2px;border-left-style:solid;width:100%;padding:0px"><div style="padding:0em 0.25em"> <ul><li><span style="white-space:nowrap;"><a href="/wiki/Ensembl" title="Ensembl">Ensembl</a>: <span class="uid"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://identifiers.org/ensembl/ENSG00000166147">ENSG00000166147</a></span></span></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/HGNC" title="HGNC">HGNC</a>: <span class="uid"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3603">3603</a></span></span></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/HomoloGene" title="HomoloGene">HomoloGene</a>: <span class="uid"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/homologene?term=30958">30958</a></span></span></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a>: <span class="uid"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://omim.org/entry/134797">134797</a></span></span></span></li> <li><span style="white-space:nowrap;"><a href="https://en.wikipedia.org/wiki/RefSeq" class="extiw" title="en:RefSeq">RefSeq</a>: <span class="uid"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000138">NM_000138</a></span></span></span></li> <li><span style="white-space:nowrap;"><a href="/wiki/Sistema_Unificado_de_Linguagem_M%C3%A9dica" title="Sistema Unificado de Linguagem Médica">UMLS</a>: <span class="uid"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&amp;code=C1414542">C1414542</a></span></span></span></li></ul> </div></td></tr></tbody></table></div> <ul class="noprint navigation-box" style="border-top: solid silver 1px; border-right: solid silver 1px; border-bottom:1px solid silver; border-left: solid silver 1px; padding:3px; background-color: #F9F9F9; text-align: center; margin-top:10px; margin-left: 0; clear: both;"><li style="display: inline;"><span style="white-space: nowrap; margin: auto 1.5em"><span style="margin-right: 0.5em"><span typeof="mw:File"><a href="/wiki/Ficheiro:Lq-dna.png" title="Portal da genética"><img alt="" src="//upload.wikimedia.org/wikipedia/commons/thumb/3/39/Lq-dna.png/25px-Lq-dna.png" decoding="async" width="25" height="25" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/39/Lq-dna.png/38px-Lq-dna.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/39/Lq-dna.png/50px-Lq-dna.png 2x" data-file-width="200" data-file-height="200" /></a></span></span> <span style="font-weight:bold"><a href="/wiki/Portal:Gen%C3%A9tica" title="Portal:Genética">Portal da genética</a></span></span></li> <li style="display: inline;"><span style="white-space: nowrap; 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