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dc.contributor.authorGabriel, George C.
dc.contributor.authorPazour, Gregory J.
dc.contributor.authorLo, Cecilia W.
dc.date2022-08-11T08:09:50.000
dc.date.accessioned2022-08-23T16:45:34Z
dc.date.available2022-08-23T16:45:34Z
dc.date.issued2018-06-15
dc.date.submitted2018-08-08
dc.identifier.citation<p>Front Pediatr. 2018 Jun 15;6:175. doi: 10.3389/fped.2018.00175. eCollection 2018. <a href="https://doi.org/10.3389/fped.2018.00175">Link to article on publisher's site</a></p>
dc.identifier.issn2296-2360 (Linking)
dc.identifier.doi10.3389/fped.2018.00175
dc.identifier.pmid29963541
dc.identifier.urihttp://hdl.handle.net/20.500.14038/40708
dc.description.abstractCongenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are also known to have important roles in kidney development and disease, it is not surprising that renal anomalies were found to be enriched among CHD mutant mice recovered in a large-scale mouse forward genetic screen. Indeed 42% of mutations identified to cause both CHD and renal anomalies were cilia-related. Many of these cilia mutations comprise cilia transition zone or inversin compartment components, consistent with the known role of these cilia proteins in a wide variety of ciliopathies. The high prevalence of CHD with congenital anomalies of the kidney and urinary tract (CAKUT) observed in mice was also corroborated with clinical studies that showed 20-30% of CHD patients have renal anomalies. Together these findings suggest CHD patients may benefit from early screening for renal anomalies to allow early diagnosis and intervention to improve outcome for this vulnerable patient population.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=29963541&dopt=Abstract">Link to Article in PubMed</a></p>
dc.rightsCopyright © 2018 Gabriel, Pazour and Lo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCAKUT
dc.subjectcilia
dc.subjectciliopathies
dc.subjectcongenital abnormalities
dc.subjectcongenital heart disease
dc.subjectgenetic syndromes
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectGenetic Phenomena
dc.subjectGenetics and Genomics
dc.subjectMedical Genetics
dc.subjectPediatrics
dc.subjectUrogenital System
dc.titleCongenital Heart Defects and Ciliopathies Associated With Renal Phenotypes
dc.typeJournal Article
dc.source.journaltitleFrontiers in pediatrics
dc.source.volume6
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=4521&amp;context=oapubs&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/oapubs/3510
dc.identifier.contextkey12624493
refterms.dateFOA2022-08-23T16:45:34Z
html.description.abstract<p>Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are also known to have important roles in kidney development and disease, it is not surprising that renal anomalies were found to be enriched among CHD mutant mice recovered in a large-scale mouse forward genetic screen. Indeed 42% of mutations identified to cause both CHD and renal anomalies were cilia-related. Many of these cilia mutations comprise cilia transition zone or inversin compartment components, consistent with the known role of these cilia proteins in a wide variety of ciliopathies. The high prevalence of CHD with congenital anomalies of the kidney and urinary tract (CAKUT) observed in mice was also corroborated with clinical studies that showed 20-30% of CHD patients have renal anomalies. Together these findings suggest CHD patients may benefit from early screening for renal anomalies to allow early diagnosis and intervention to improve outcome for this vulnerable patient population.</p>
dc.identifier.submissionpathoapubs/3510
dc.contributor.departmentProgram in Molecular Medicine
dc.source.pages175


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Copyright © 2018 Gabriel, Pazour and Lo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Except where otherwise noted, this item's license is described as Copyright © 2018 Gabriel, Pazour and Lo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.