Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals...
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| Veröffentlicht in: | Annals of the rheumatic diseases 2015-06, Vol.74 (6), p.1249-1256 |
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| creator | Banka, Siddharth Cain, Stuart A Carim, Sabrya Daly, Sarah B Urquhart, Jill E Erdem, Günhan Harris, Jade Bottomley, Michelle Donnai, Dian Kerr, Bronwyn Kingston, Helen Superti-Furga, Andreas Unger, Sheila Ennis, Holly Worthington, Jane Herrick, Ariane L Merry, Catherine L R Yue, Wyatt W Kielty, Cay M Newman, William G |
| description | Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis.
Whole-genome single-nucleotide polymorphism genotyping in two families with LP defined microduplications of chromosome 8q22.1 as the cause of this condition. Expression analysis of dermal fibroblasts from affected individuals showed overexpression of two genes, GDF6 and SDC2, within the duplicated region, leading to dysregulation of genes that encode proteins of the extracellular matrix and downstream players in the transforming growth factor (TGF)-β pathway. Western blot analysis revealed markedly decreased inhibitory SMAD6 levels in patients with LP. Furthermore, in a cohort of 330 systemic sclerosis cases, we show that the minor allele of a missense SDC2 variant, p.Ser71Thr, could confer protection against disease (p |
| doi_str_mv | 10.1136/annrheumdis-2013-204309 |
| format | Article |
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Whole-genome single-nucleotide polymorphism genotyping in two families with LP defined microduplications of chromosome 8q22.1 as the cause of this condition. Expression analysis of dermal fibroblasts from affected individuals showed overexpression of two genes, GDF6 and SDC2, within the duplicated region, leading to dysregulation of genes that encode proteins of the extracellular matrix and downstream players in the transforming growth factor (TGF)-β pathway. Western blot analysis revealed markedly decreased inhibitory SMAD6 levels in patients with LP. Furthermore, in a cohort of 330 systemic sclerosis cases, we show that the minor allele of a missense SDC2 variant, p.Ser71Thr, could confer protection against disease (p<1×10(-5)).
Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2. We propose that LP is an additional member of the growing 'TGF-β-pathies' group of musculoskeletal disorders, which includes Myhre syndrome, acromicric dysplasia, geleophysic dysplasias, Weill-Marchesani syndromes and stiff skin syndrome. Identification of a systemic sclerosis-protective SDC2 variant lays the foundation for exploration of the role of syndecan-2 in systemic sclerosis in the future.</description><identifier>ISSN: 0003-4967</identifier><identifier>EISSN: 1468-2060</identifier><identifier>DOI: 10.1136/annrheumdis-2013-204309</identifier><identifier>PMID: 24442880</identifier><language>eng</language><publisher>England</publisher><subject>Adult ; Aged ; Child, Preschool ; Chromosomes, Human, Pair 8 - genetics ; Extracellular Matrix - metabolism ; Facies ; Female ; Fibroblasts - metabolism ; Gene Duplication ; Gene Expression Profiling ; Growth Differentiation Factor 6 - genetics ; Growth Differentiation Factor 6 - metabolism ; Hand Deformities, Congenital - genetics ; Hand Deformities, Congenital - metabolism ; Hand Deformities, Congenital - physiopathology ; Humans ; Infant ; Joint Diseases - congenital ; Joint Diseases - genetics ; Joint Diseases - metabolism ; Joint Diseases - physiopathology ; Male ; Middle Aged ; Ossification, Heterotopic - genetics ; Ossification, Heterotopic - metabolism ; Ossification, Heterotopic - physiopathology ; Phenotype ; Scleroderma, Systemic - genetics ; Signal Transduction ; Syndecan-2 - genetics ; Syndecan-2 - metabolism ; Transforming Growth Factor beta - metabolism ; Young Adult</subject><ispartof>Annals of the rheumatic diseases, 2015-06, Vol.74 (6), p.1249-1256</ispartof><rights>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c416t-a1473ce10203de25403d2dc253d55b01c35200b726dde44edd365eca60151f2e3</citedby><cites>FETCH-LOGICAL-c416t-a1473ce10203de25403d2dc253d55b01c35200b726dde44edd365eca60151f2e3</cites><orcidid>0000-0002-8527-2210</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,3183,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24442880$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Banka, Siddharth</creatorcontrib><creatorcontrib>Cain, Stuart A</creatorcontrib><creatorcontrib>Carim, Sabrya</creatorcontrib><creatorcontrib>Daly, Sarah B</creatorcontrib><creatorcontrib>Urquhart, Jill E</creatorcontrib><creatorcontrib>Erdem, Günhan</creatorcontrib><creatorcontrib>Harris, Jade</creatorcontrib><creatorcontrib>Bottomley, Michelle</creatorcontrib><creatorcontrib>Donnai, Dian</creatorcontrib><creatorcontrib>Kerr, Bronwyn</creatorcontrib><creatorcontrib>Kingston, Helen</creatorcontrib><creatorcontrib>Superti-Furga, Andreas</creatorcontrib><creatorcontrib>Unger, Sheila</creatorcontrib><creatorcontrib>Ennis, Holly</creatorcontrib><creatorcontrib>Worthington, Jane</creatorcontrib><creatorcontrib>Herrick, Ariane L</creatorcontrib><creatorcontrib>Merry, Catherine L R</creatorcontrib><creatorcontrib>Yue, Wyatt W</creatorcontrib><creatorcontrib>Kielty, Cay M</creatorcontrib><creatorcontrib>Newman, William G</creatorcontrib><title>Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis</title><title>Annals of the rheumatic diseases</title><addtitle>Ann Rheum Dis</addtitle><description>Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis.
Whole-genome single-nucleotide polymorphism genotyping in two families with LP defined microduplications of chromosome 8q22.1 as the cause of this condition. Expression analysis of dermal fibroblasts from affected individuals showed overexpression of two genes, GDF6 and SDC2, within the duplicated region, leading to dysregulation of genes that encode proteins of the extracellular matrix and downstream players in the transforming growth factor (TGF)-β pathway. Western blot analysis revealed markedly decreased inhibitory SMAD6 levels in patients with LP. Furthermore, in a cohort of 330 systemic sclerosis cases, we show that the minor allele of a missense SDC2 variant, p.Ser71Thr, could confer protection against disease (p<1×10(-5)).
Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2. We propose that LP is an additional member of the growing 'TGF-β-pathies' group of musculoskeletal disorders, which includes Myhre syndrome, acromicric dysplasia, geleophysic dysplasias, Weill-Marchesani syndromes and stiff skin syndrome. Identification of a systemic sclerosis-protective SDC2 variant lays the foundation for exploration of the role of syndecan-2 in systemic sclerosis in the future.</description><subject>Adult</subject><subject>Aged</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Extracellular Matrix - metabolism</subject><subject>Facies</subject><subject>Female</subject><subject>Fibroblasts - metabolism</subject><subject>Gene Duplication</subject><subject>Gene Expression Profiling</subject><subject>Growth Differentiation Factor 6 - genetics</subject><subject>Growth Differentiation Factor 6 - metabolism</subject><subject>Hand Deformities, Congenital - genetics</subject><subject>Hand Deformities, Congenital - metabolism</subject><subject>Hand Deformities, Congenital - physiopathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Joint Diseases - congenital</subject><subject>Joint Diseases - genetics</subject><subject>Joint Diseases - metabolism</subject><subject>Joint Diseases - physiopathology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Ossification, Heterotopic - genetics</subject><subject>Ossification, Heterotopic - metabolism</subject><subject>Ossification, Heterotopic - physiopathology</subject><subject>Phenotype</subject><subject>Scleroderma, Systemic - genetics</subject><subject>Signal Transduction</subject><subject>Syndecan-2 - genetics</subject><subject>Syndecan-2 - metabolism</subject><subject>Transforming Growth Factor beta - metabolism</subject><subject>Young Adult</subject><issn>0003-4967</issn><issn>1468-2060</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNUU1vEzEUtBAVTQt_AXyDQ7f4a73OEaW0VIrUQ-G8cuyXxGjX3vp5K_Vv8QtxmlJx8XikeW9Gbwj5xNkl51J_tTHmPcyjD9gIxmV9lGTLN2TBlTaVafaWLBhjslFL3Z2SM8TflTLDzTtyKpRSwhi2IH_WkMNnpNMAKSYskDDgBbXUpbiDGIod6LOTLcHRagcW4YJmwHkoSLc5jXQMLic_T0NwVZUitYWaByEuOYXo0jhZxBB39ObqWlMbPb2_Wonnz5TTY_CANEQMu32pWBLFp5qjLqXoBsiHQHSyZZ9qHqjkPTnZ2gHhwwuek1_X33-ufjTru5vb1bd14xTXpbFcddIBZ4JJD6JVFYR3opW-bTeMO9kKxjad0N6DUuC91C04qxlv-VaAPCdfjntryocZsPRjQAfDYCOkGXtumNFL1Rlepd1RWg-BmGHbTzmMNj_1nPWHwvr_CusPhfXHwurkxxeTeTOCf53715D8CzjXmEg</recordid><startdate>20150601</startdate><enddate>20150601</enddate><creator>Banka, Siddharth</creator><creator>Cain, Stuart A</creator><creator>Carim, Sabrya</creator><creator>Daly, Sarah B</creator><creator>Urquhart, Jill E</creator><creator>Erdem, Günhan</creator><creator>Harris, Jade</creator><creator>Bottomley, Michelle</creator><creator>Donnai, Dian</creator><creator>Kerr, Bronwyn</creator><creator>Kingston, Helen</creator><creator>Superti-Furga, Andreas</creator><creator>Unger, Sheila</creator><creator>Ennis, Holly</creator><creator>Worthington, Jane</creator><creator>Herrick, Ariane L</creator><creator>Merry, Catherine L R</creator><creator>Yue, Wyatt W</creator><creator>Kielty, Cay M</creator><creator>Newman, William G</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><orcidid>https://orcid.org/0000-0002-8527-2210</orcidid></search><sort><creationdate>20150601</creationdate><title>Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis</title><author>Banka, Siddharth ; Cain, Stuart A ; Carim, Sabrya ; Daly, Sarah B ; Urquhart, Jill E ; Erdem, Günhan ; Harris, Jade ; Bottomley, Michelle ; Donnai, Dian ; Kerr, Bronwyn ; Kingston, Helen ; Superti-Furga, Andreas ; Unger, Sheila ; Ennis, Holly ; Worthington, Jane ; Herrick, Ariane L ; Merry, Catherine L R ; Yue, Wyatt W ; Kielty, Cay M ; Newman, William G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c416t-a1473ce10203de25403d2dc253d55b01c35200b726dde44edd365eca60151f2e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Extracellular Matrix - metabolism</topic><topic>Facies</topic><topic>Female</topic><topic>Fibroblasts - metabolism</topic><topic>Gene Duplication</topic><topic>Gene Expression Profiling</topic><topic>Growth Differentiation Factor 6 - genetics</topic><topic>Growth Differentiation Factor 6 - metabolism</topic><topic>Hand Deformities, Congenital - genetics</topic><topic>Hand Deformities, Congenital - metabolism</topic><topic>Hand Deformities, Congenital - physiopathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Joint Diseases - congenital</topic><topic>Joint Diseases - genetics</topic><topic>Joint Diseases - metabolism</topic><topic>Joint Diseases - physiopathology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Ossification, Heterotopic - genetics</topic><topic>Ossification, Heterotopic - metabolism</topic><topic>Ossification, Heterotopic - physiopathology</topic><topic>Phenotype</topic><topic>Scleroderma, Systemic - genetics</topic><topic>Signal Transduction</topic><topic>Syndecan-2 - genetics</topic><topic>Syndecan-2 - metabolism</topic><topic>Transforming Growth Factor beta - metabolism</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Banka, Siddharth</creatorcontrib><creatorcontrib>Cain, Stuart A</creatorcontrib><creatorcontrib>Carim, Sabrya</creatorcontrib><creatorcontrib>Daly, Sarah B</creatorcontrib><creatorcontrib>Urquhart, Jill E</creatorcontrib><creatorcontrib>Erdem, Günhan</creatorcontrib><creatorcontrib>Harris, Jade</creatorcontrib><creatorcontrib>Bottomley, Michelle</creatorcontrib><creatorcontrib>Donnai, Dian</creatorcontrib><creatorcontrib>Kerr, Bronwyn</creatorcontrib><creatorcontrib>Kingston, Helen</creatorcontrib><creatorcontrib>Superti-Furga, Andreas</creatorcontrib><creatorcontrib>Unger, Sheila</creatorcontrib><creatorcontrib>Ennis, Holly</creatorcontrib><creatorcontrib>Worthington, Jane</creatorcontrib><creatorcontrib>Herrick, Ariane L</creatorcontrib><creatorcontrib>Merry, Catherine L R</creatorcontrib><creatorcontrib>Yue, Wyatt W</creatorcontrib><creatorcontrib>Kielty, Cay M</creatorcontrib><creatorcontrib>Newman, William G</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Annals of the rheumatic diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Banka, Siddharth</au><au>Cain, Stuart A</au><au>Carim, Sabrya</au><au>Daly, Sarah B</au><au>Urquhart, Jill E</au><au>Erdem, Günhan</au><au>Harris, Jade</au><au>Bottomley, Michelle</au><au>Donnai, Dian</au><au>Kerr, Bronwyn</au><au>Kingston, Helen</au><au>Superti-Furga, Andreas</au><au>Unger, Sheila</au><au>Ennis, Holly</au><au>Worthington, Jane</au><au>Herrick, Ariane L</au><au>Merry, Catherine L R</au><au>Yue, Wyatt W</au><au>Kielty, Cay M</au><au>Newman, William G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis</atitle><jtitle>Annals of the rheumatic diseases</jtitle><addtitle>Ann Rheum Dis</addtitle><date>2015-06-01</date><risdate>2015</risdate><volume>74</volume><issue>6</issue><spage>1249</spage><epage>1256</epage><pages>1249-1256</pages><issn>0003-4967</issn><eissn>1468-2060</eissn><abstract>Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis.
Whole-genome single-nucleotide polymorphism genotyping in two families with LP defined microduplications of chromosome 8q22.1 as the cause of this condition. Expression analysis of dermal fibroblasts from affected individuals showed overexpression of two genes, GDF6 and SDC2, within the duplicated region, leading to dysregulation of genes that encode proteins of the extracellular matrix and downstream players in the transforming growth factor (TGF)-β pathway. Western blot analysis revealed markedly decreased inhibitory SMAD6 levels in patients with LP. Furthermore, in a cohort of 330 systemic sclerosis cases, we show that the minor allele of a missense SDC2 variant, p.Ser71Thr, could confer protection against disease (p<1×10(-5)).
Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2. We propose that LP is an additional member of the growing 'TGF-β-pathies' group of musculoskeletal disorders, which includes Myhre syndrome, acromicric dysplasia, geleophysic dysplasias, Weill-Marchesani syndromes and stiff skin syndrome. Identification of a systemic sclerosis-protective SDC2 variant lays the foundation for exploration of the role of syndecan-2 in systemic sclerosis in the future.</abstract><cop>England</cop><pmid>24442880</pmid><doi>10.1136/annrheumdis-2013-204309</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-8527-2210</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0003-4967 |
| ispartof | Annals of the rheumatic diseases, 2015-06, Vol.74 (6), p.1249-1256 |
| issn | 0003-4967 1468-2060 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1808694781 |
| source | MEDLINE; BMJ Journals - NESLi2 |
| subjects | Adult Aged Child, Preschool Chromosomes, Human, Pair 8 - genetics Extracellular Matrix - metabolism Facies Female Fibroblasts - metabolism Gene Duplication Gene Expression Profiling Growth Differentiation Factor 6 - genetics Growth Differentiation Factor 6 - metabolism Hand Deformities, Congenital - genetics Hand Deformities, Congenital - metabolism Hand Deformities, Congenital - physiopathology Humans Infant Joint Diseases - congenital Joint Diseases - genetics Joint Diseases - metabolism Joint Diseases - physiopathology Male Middle Aged Ossification, Heterotopic - genetics Ossification, Heterotopic - metabolism Ossification, Heterotopic - physiopathology Phenotype Scleroderma, Systemic - genetics Signal Transduction Syndecan-2 - genetics Syndecan-2 - metabolism Transforming Growth Factor beta - metabolism Young Adult |
| title | Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis |
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