Renal Agenesis in Kallmann Syndrome: A Network Approach
Summary Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS‐related disorders, renal agenesis cannot be directly associated with mutations in the...
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| Veröffentlicht in: | Annals of human genetics 2014-11, Vol.78 (6), p.424-433 |
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| container_title | Annals of human genetics |
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| creator | Tickotsky, Nili Moskovitz, Moti |
| description | Summary
Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS‐related disorders, renal agenesis cannot be directly associated with mutations in the KAL1 gene. We hypothesized that protein interaction networks may suggest a link between genes currently known to be associated with KS on the one hand and those associated with renal agenesis on the other hand.
We created a STRING protein interaction network from KS‐related genes and renal‐agenesis‐associated genes and analyzed it with Cytoscape 3.0.1 network software.
The STRING protein interaction network provided a conceptual framework for current knowledge on the subject of renal morphogenesis in Kallmann syndrome. In addition, STRING and Cytoscape 3.0.1 software identified new potential KS renal‐aplasia‐associated genes (PAX2, BMP4, and SOX10).
The use of protein–protein interaction networks and network analysis tools provided interesting insights and possible directions for future studies on the subject of renal aplasia in Kallmann syndrome. |
| doi_str_mv | 10.1111/ahg.12079 |
| format | Article |
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Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS‐related disorders, renal agenesis cannot be directly associated with mutations in the KAL1 gene. We hypothesized that protein interaction networks may suggest a link between genes currently known to be associated with KS on the one hand and those associated with renal agenesis on the other hand.
We created a STRING protein interaction network from KS‐related genes and renal‐agenesis‐associated genes and analyzed it with Cytoscape 3.0.1 network software.
The STRING protein interaction network provided a conceptual framework for current knowledge on the subject of renal morphogenesis in Kallmann syndrome. In addition, STRING and Cytoscape 3.0.1 software identified new potential KS renal‐aplasia‐associated genes (PAX2, BMP4, and SOX10).
The use of protein–protein interaction networks and network analysis tools provided interesting insights and possible directions for future studies on the subject of renal aplasia in Kallmann syndrome.</description><identifier>ISSN: 0003-4800</identifier><identifier>EISSN: 1469-1809</identifier><identifier>DOI: 10.1111/ahg.12079</identifier><identifier>PMID: 25227403</identifier><identifier>CODEN: ANHGAA</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>anosmin‐1 ; Cluster Analysis ; Computational Biology ; Congenital Abnormalities - genetics ; Humans ; Kallmann syndrome ; Kallmann Syndrome - genetics ; Kidney - abnormalities ; Kidney Diseases - congenital ; Kidney Diseases - genetics ; Monte Carlo Method ; Mutation ; Protein Interaction Maps ; Proteins ; protein–protein interactions ; renal agenesis ; Software</subject><ispartof>Annals of human genetics, 2014-11, Vol.78 (6), p.424-433</ispartof><rights>2014 John Wiley & Sons Ltd/University College London</rights><rights>2014 John Wiley & Sons Ltd/University College London.</rights><rights>Copyright © 2014 John Wiley & Sons Ltd/University College London</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fahg.12079$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fahg.12079$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,1427,27903,27904,45553,45554,46387,46811</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25227403$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tickotsky, Nili</creatorcontrib><creatorcontrib>Moskovitz, Moti</creatorcontrib><title>Renal Agenesis in Kallmann Syndrome: A Network Approach</title><title>Annals of human genetics</title><addtitle>Ann Hum Genet</addtitle><description>Summary
Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS‐related disorders, renal agenesis cannot be directly associated with mutations in the KAL1 gene. We hypothesized that protein interaction networks may suggest a link between genes currently known to be associated with KS on the one hand and those associated with renal agenesis on the other hand.
We created a STRING protein interaction network from KS‐related genes and renal‐agenesis‐associated genes and analyzed it with Cytoscape 3.0.1 network software.
The STRING protein interaction network provided a conceptual framework for current knowledge on the subject of renal morphogenesis in Kallmann syndrome. In addition, STRING and Cytoscape 3.0.1 software identified new potential KS renal‐aplasia‐associated genes (PAX2, BMP4, and SOX10).
The use of protein–protein interaction networks and network analysis tools provided interesting insights and possible directions for future studies on the subject of renal aplasia in Kallmann syndrome.</description><subject>anosmin‐1</subject><subject>Cluster Analysis</subject><subject>Computational Biology</subject><subject>Congenital Abnormalities - genetics</subject><subject>Humans</subject><subject>Kallmann syndrome</subject><subject>Kallmann Syndrome - genetics</subject><subject>Kidney - abnormalities</subject><subject>Kidney Diseases - congenital</subject><subject>Kidney Diseases - genetics</subject><subject>Monte Carlo Method</subject><subject>Mutation</subject><subject>Protein Interaction Maps</subject><subject>Proteins</subject><subject>protein–protein interactions</subject><subject>renal agenesis</subject><subject>Software</subject><issn>0003-4800</issn><issn>1469-1809</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU9PwkAQxTdGI4ge_AKmiRcvhdnt7nbXW0MUjEQT5b5Z2wGK_WeXhvDtbQE9eHEuM8n8MvPyHiHXFIa0rZFdLYeUQahPSJ9yqX2qQJ-SPgAEPlcAPXLh3BqAMsWDc9JjgrGQQ9An4RsWNvOiJRboUuelhfdssyy3ReG974qkLnO89yLvBTfbsv70oqqqSxuvLsnZwmYOr459QOaPD_Px1J-9Tp7G0cyvAsq0r1BTuaBSB60KGQvBE9CMC4y5EiHTsUTOEg4gEkQaY8KYXgCEigkuLQ0G5O5wtv361aDbmDx1MWaZLbBsnKEhUKWFVOx_VLYnQ85ph97-QddlU7c-dFSnT6lQttTNkWo-ckxMVae5rXfmx7wWGB2AbZrh7ndPwXSpmDYVs0_FRNPJfgi-AUGSecg</recordid><startdate>201411</startdate><enddate>201411</enddate><creator>Tickotsky, Nili</creator><creator>Moskovitz, Moti</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201411</creationdate><title>Renal Agenesis in Kallmann Syndrome: A Network Approach</title><author>Tickotsky, Nili ; Moskovitz, Moti</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p3129-8e916f16938006c554d09245ec485729c6e42d4005dee1ced229f00782546a13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>anosmin‐1</topic><topic>Cluster Analysis</topic><topic>Computational Biology</topic><topic>Congenital Abnormalities - genetics</topic><topic>Humans</topic><topic>Kallmann syndrome</topic><topic>Kallmann Syndrome - genetics</topic><topic>Kidney - abnormalities</topic><topic>Kidney Diseases - congenital</topic><topic>Kidney Diseases - genetics</topic><topic>Monte Carlo Method</topic><topic>Mutation</topic><topic>Protein Interaction Maps</topic><topic>Proteins</topic><topic>protein–protein interactions</topic><topic>renal agenesis</topic><topic>Software</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tickotsky, Nili</creatorcontrib><creatorcontrib>Moskovitz, Moti</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tickotsky, Nili</au><au>Moskovitz, Moti</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Renal Agenesis in Kallmann Syndrome: A Network Approach</atitle><jtitle>Annals of human genetics</jtitle><addtitle>Ann Hum Genet</addtitle><date>2014-11</date><risdate>2014</risdate><volume>78</volume><issue>6</issue><spage>424</spage><epage>433</epage><pages>424-433</pages><issn>0003-4800</issn><eissn>1469-1809</eissn><coden>ANHGAA</coden><abstract>Summary
Kallmann syndrome (KS) is defined by the combination of isolated hypogonadotrophic hypogonadism (IHH) and anosmia, with renal agenesis occurring in 30% of KS cases with KAL1 gene mutations. Unlike other KS‐related disorders, renal agenesis cannot be directly associated with mutations in the KAL1 gene. We hypothesized that protein interaction networks may suggest a link between genes currently known to be associated with KS on the one hand and those associated with renal agenesis on the other hand.
We created a STRING protein interaction network from KS‐related genes and renal‐agenesis‐associated genes and analyzed it with Cytoscape 3.0.1 network software.
The STRING protein interaction network provided a conceptual framework for current knowledge on the subject of renal morphogenesis in Kallmann syndrome. In addition, STRING and Cytoscape 3.0.1 software identified new potential KS renal‐aplasia‐associated genes (PAX2, BMP4, and SOX10).
The use of protein–protein interaction networks and network analysis tools provided interesting insights and possible directions for future studies on the subject of renal aplasia in Kallmann syndrome.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>25227403</pmid><doi>10.1111/ahg.12079</doi><tpages>10</tpages></addata></record> |
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| ispartof | Annals of human genetics, 2014-11, Vol.78 (6), p.424-433 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Free Content |
| subjects | anosmin‐1 Cluster Analysis Computational Biology Congenital Abnormalities - genetics Humans Kallmann syndrome Kallmann Syndrome - genetics Kidney - abnormalities Kidney Diseases - congenital Kidney Diseases - genetics Monte Carlo Method Mutation Protein Interaction Maps Proteins protein–protein interactions renal agenesis Software |
| title | Renal Agenesis in Kallmann Syndrome: A Network Approach |
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