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<!--
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UID=82774
|
||
ConceptID=C0268134
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">DNA repair disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82774</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Deficient DNA Repair; Deficient DNA Repairs; DNA Repair Deficiency; DNA Repair, Deficient; DNA Repair-Deficiencies; DNA Repair-Deficiency; DNA Repairs, Deficient; Repair, Deficient DNA; Repairs, Deficient DNA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of deoxyribonucleic acid repair (28965003); Deficiency of DNA repair (28965003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0021190" target="_blank">MONDO:0021190</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A disease that has its basis in the disruption of DNA repair. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">DNA repair disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="matched_ds">DNA repair disease</span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="TLline"><a href="/medgen/483333" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group A">Fanconi anemia complementation group A</a></span><ul><li><span class="TLline"><a href="/medgen/341624" ref="tree=MeSH" title="MedGen record for Fanconi anemia, Estren-Dameshek variant">Fanconi anemia, Estren-Dameshek variant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336901" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group B">Fanconi anemia complementation group B</a></span></li><li><span class="TLline"><a href="/medgen/483324" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group C">Fanconi anemia complementation group C</a></span></li><li><span class="TLline"><a href="/medgen/325420" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D1">Fanconi anemia complementation group D1</a></span></li><li><span class="TLline"><a href="/medgen/463627" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D2">Fanconi anemia complementation group D2</a></span></li><li><span class="TLline"><a href="/medgen/463628" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group E">Fanconi anemia complementation group E</a></span></li><li><span class="TLline"><a href="/medgen/854016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group F">Fanconi anemia complementation group F</a></span></li><li><span class="TLline"><a href="/medgen/854017" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group G">Fanconi anemia complementation group G</a></span></li><li><span class="TLline"><a href="/medgen/323016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group I">Fanconi anemia complementation group I</a></span></li><li><span class="TLline"><a href="/medgen/323015" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group J">Fanconi anemia complementation group J</a></span></li><li><span class="TLline"><a href="/medgen/854018" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group L">Fanconi anemia complementation group L</a></span></li><li><span class="TLline"><a href="/medgen/372133" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group N">Fanconi anemia complementation group N</a></span></li><li><span class="TLline"><a href="/medgen/462003" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group O">Fanconi anemia complementation group O</a></span></li><li><span class="TLline"><a href="/medgen/854020" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group P">Fanconi anemia complementation group P</a></span></li><li><span class="TLline"><a href="/medgen/854019" ref="tree=MeSH" title="MedGen record for Fanconi anemia, complementation group M">Fanconi anemia, complementation group M</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1633554" ref="tree=MeSH" title="MedGen record for Lynch syndrome">Lynch syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/232603" ref="tree=MeSH" title="MedGen record for Colorectal cancer, hereditary nonpolyposis, type 2">Colorectal cancer, hereditary nonpolyposis, type 2</a></span><ul><li><span class="TLline"><a href="/medgen/231157" ref="tree=MeSH" title="MedGen record for Muir-Torré syndrome">Muir-Torré syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/423615" ref="tree=MeSH" title="MedGen record for Lynch syndrome 1">Lynch syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140771" ref="tree=MeSH" title="MedGen record for Microcephaly, normal intelligence and immunodeficiency">Microcephaly, normal intelligence and immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/442700" ref="tree=MeSH" title="MedGen record for Nijmegen breakage syndrome-like disorder">Nijmegen breakage syndrome-like disorder</a></span></li><li><span class="TLline"><a href="/medgen/462008" ref="tree=MeSH" title="MedGen record for Warsaw breakage syndrome">Warsaw breakage syndrome</a></span></li><li><span class="TLline"><a href="/medgen/12147" ref="tree=MeSH" title="MedGen record for Werner syndrome">Werner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21943" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum">Xeroderma pigmentosum</a></span><ul><li><span class="TLline"><a href="/medgen/468518" ref="tree=MeSH" title="MedGen record for ERCC1-Related Xeroderma Pigmentosum">ERCC1-Related Xeroderma Pigmentosum</a></span></li><li><span class="TLline"><a href="/medgen/82775" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group A">Xeroderma pigmentosum group A</a></span></li><li><span class="TLline"><a href="/medgen/78643" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum group B">Xeroderma pigmentosum group B</a></span><ul><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376352" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum variant type">Xeroderma pigmentosum variant type</a></span></li><li><span class="TLline"><a href="/medgen/416702" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group C">Xeroderma pigmentosum, group C</a></span></li><li><span class="TLline"><a href="/medgen/75656" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group D">Xeroderma pigmentosum, group D</a></span></li><li><span class="TLline"><a href="/medgen/341219" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group E">Xeroderma pigmentosum, group E</a></span></li><li><span class="TLline"><a href="/medgen/120612" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group F">Xeroderma pigmentosum, group F</a></span></li><li><span class="TLline"><a href="/medgen/75657" ref="tree=MeSH" title="MedGen record for Xeroderma pigmentosum, group G">Xeroderma pigmentosum, group G</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26185420">Pancreatic cancer: optimizing treatment options, new, and emerging targeted therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiorean EG,
|
||
Coveler AL</span><br />
|
||
<span class="medgenPMjournal">Drug Des Devel Ther</span>
|
||
2015;9:3529-45.
|
||
Epub 2015 Jul 7
|
||
doi: 10.2147/DDDT.S60328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26185420" target="_blank">26185420</a><a href="/pmc/articles/PMC4500614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22dna%20repair%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35974070">Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chikhaoui A,
|
||
Jones M,
|
||
Režen T,
|
||
Ben Ahmed M,
|
||
Naouali C,
|
||
Komel R,
|
||
Zghal M,
|
||
Boubaker S,
|
||
Abdelhak S,
|
||
Yacoub-Youssef H</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Aug 16;12(1):13854.
|
||
doi: 10.1038/s41598-022-17928-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35974070" target="_blank">35974070</a><a href="/pmc/articles/PMC9381529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31503159">Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merideth M,
|
||
Tamura D,
|
||
Angra D,
|
||
Khan SG,
|
||
Ferrell J,
|
||
Goldstein AM,
|
||
DiGiovanna JJ,
|
||
Kraemer KH</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2019 Oct;134(4):814-819.
|
||
doi: 10.1097/AOG.0000000000003490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31503159" target="_blank">31503159</a><a href="/pmc/articles/PMC6768713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24260277">Fanconi anemia patients are more susceptible to infection with tumor virus SV40.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Comar M,
|
||
De Rocco D,
|
||
Cappelli E,
|
||
Zanotta N,
|
||
Bottega R,
|
||
Svahn J,
|
||
Farruggia P,
|
||
Misuraca A,
|
||
Corsolini F,
|
||
Dufour C,
|
||
Savoia A</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(11):e79683.
|
||
Epub 2013 Nov 18
|
||
doi: 10.1371/journal.pone.0079683.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24260277" target="_blank">24260277</a><a href="/pmc/articles/PMC3832620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19321451">The fanconi anemia core complex acts as a transcriptional co-regulator in hairy enhancer of split 1 signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tremblay CS,
|
||
Huard CC,
|
||
Huang FF,
|
||
Habi O,
|
||
Bourdages V,
|
||
Lévesque G,
|
||
Carreau M</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2009 May 15;284(20):13384-13395.
|
||
Epub 2009 Mar 25
|
||
doi: 10.1074/jbc.M807921200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19321451" target="_blank">19321451</a><a href="/pmc/articles/PMC2679438" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DNA%20repair%20disease%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28273955">Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mori MP,
|
||
Costa RA,
|
||
Soltys DT,
|
||
Freire TS,
|
||
Rossato FA,
|
||
Amigo I,
|
||
Kowaltowski AJ,
|
||
Vercesi AE,
|
||
de Souza-Pinto NC</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Mar 13;7(1):155.
|
||
doi: 10.1038/s41598-017-00130-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28273955" target="_blank">28273955</a><a href="/pmc/articles/PMC5427820" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DNA%20repair%20disease%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31503159">Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merideth M,
|
||
Tamura D,
|
||
Angra D,
|
||
Khan SG,
|
||
Ferrell J,
|
||
Goldstein AM,
|
||
DiGiovanna JJ,
|
||
Kraemer KH</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2019 Oct;134(4):814-819.
|
||
doi: 10.1097/AOG.0000000000003490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31503159" target="_blank">31503159</a><a href="/pmc/articles/PMC6768713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DNA%20repair%20disease%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35974070">Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chikhaoui A,
|
||
Jones M,
|
||
Režen T,
|
||
Ben Ahmed M,
|
||
Naouali C,
|
||
Komel R,
|
||
Zghal M,
|
||
Boubaker S,
|
||
Abdelhak S,
|
||
Yacoub-Youssef H</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Aug 16;12(1):13854.
|
||
doi: 10.1038/s41598-022-17928-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35974070" target="_blank">35974070</a><a href="/pmc/articles/PMC9381529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DNA%20repair%20disease%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35974070">Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chikhaoui A,
|
||
Jones M,
|
||
Režen T,
|
||
Ben Ahmed M,
|
||
Naouali C,
|
||
Komel R,
|
||
Zghal M,
|
||
Boubaker S,
|
||
Abdelhak S,
|
||
Yacoub-Youssef H</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Aug 16;12(1):13854.
|
||
doi: 10.1038/s41598-022-17928-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35974070" target="_blank">35974070</a><a href="/pmc/articles/PMC9381529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31683970">Purine DNA Lesions at Different Oxygen Concentration in DNA Repair-Impaired Human Cells (EUE-siXPA).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krokidis MG,
|
||
Parlanti E,
|
||
D'Errico M,
|
||
Pascucci B,
|
||
Pino A,
|
||
Alimonti A,
|
||
Pietraforte D,
|
||
Masi A,
|
||
Ferreri C,
|
||
Chatgilialoglu C</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2019 Nov 1;8(11)
|
||
doi: 10.3390/cells8111377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31683970" target="_blank">31683970</a><a href="/pmc/articles/PMC6912421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28273955">Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mori MP,
|
||
Costa RA,
|
||
Soltys DT,
|
||
Freire TS,
|
||
Rossato FA,
|
||
Amigo I,
|
||
Kowaltowski AJ,
|
||
Vercesi AE,
|
||
de Souza-Pinto NC</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Mar 13;7(1):155.
|
||
doi: 10.1038/s41598-017-00130-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28273955" target="_blank">28273955</a><a href="/pmc/articles/PMC5427820" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22DNA%20repair%20disease%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=DNA%20repair%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22dna%20repair%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22DNA%20repair%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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