{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T22:09:25Z","timestamp":1790892565885,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinics in Dermatology"],"published-print":{"date-parts":[[2005,1]]},"DOI":"10.1016\/j.clindermatol.2004.09.006","type":"journal-article","created":{"date-parts":[[2005,2,12]],"date-time":"2005-02-12T07:13:18Z","timestamp":1108192398000},"page":"41-46","source":"Crossref","is-referenced-by-count":28,"title":["Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis"],"prefix":"10.1016","volume":"23","author":[{"given":"Franziska","family":"Ringpfeil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clindermatol.2004.09.006_bib1","first-page":"609","article-title":"Pseudoxanthoma elasticum","volume":"23","author":"Darier","year":"1896","journal-title":"Mon.hefte Prakt. Dermatol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib2","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1056\/NEJM198708063170604","article-title":"Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions","volume":"317","author":"Lebwohl","year":"1987","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib3","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1182\/blood.V99.1.30","article-title":"Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes","volume":"99","author":"Aessopos","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib4","first-page":"1","article-title":"Pseudoxanthoma elasticum","volume":"6","author":"Neldner","year":"1988","journal-title":"Clin. Dermatol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib5","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1093\/hmg\/6.11.1823","article-title":"Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1","volume":"6","author":"Struk","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib6","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/76109","article-title":"Mutations in ABCC6 cause pseudoxanthoma elasticum","volume":"25","author":"Bergen","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib7","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/76102","article-title":"Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum","volume":"25","author":"Le Saux","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib8","doi-asserted-by":"crossref","first-page":"6001","DOI":"10.1073\/pnas.100041297","article-title":"Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter","volume":"97","author":"Ringpfeil","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib9","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1007\/s001090000114","article-title":"Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum","volume":"78","author":"Struk","year":"2000","journal-title":"J. Mol. Med."},{"issue":"Suppl","key":"10.1016\/j.clindermatol.2004.09.006_bib10","first-page":"291","article-title":"Pseudodominance in pseudoxanthoma elasticum\u2014a common phenomenon: implications for genetic counseling","volume":"73","author":"Ringpfeil","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib11","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1124\/mol.57.3.634","article-title":"Transport function and hepatocellular localization of mrp6 in rat liver","volume":"57","author":"Madon","year":"2000","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib12","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1038\/sj.bjc.6690527","article-title":"MOAT-E (ARA) is a full-length MRP\/cMOAT subfamily transporter expressed in kidney and liver","volume":"80","author":"Belinsky","year":"1999","journal-title":"Br. J. Cancer"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib13","first-page":"175","article-title":"Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells","volume":"59","author":"Kool","year":"1999","journal-title":"Cancer Res."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib14","doi-asserted-by":"crossref","first-page":"7537","DOI":"10.1038\/sj.onc.1206953","article-title":"The MRP family of drug efflux pumps","volume":"22","author":"Kruh","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib15","first-page":"6172","article-title":"Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6)","volume":"62","author":"Belinsky","year":"2002","journal-title":"Cancer Res."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib16","doi-asserted-by":"crossref","first-page":"16860","DOI":"10.1074\/jbc.M110918200","article-title":"Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)","volume":"277","author":"Ilias","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib17","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S1471-4914(00)01869-4","article-title":"Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?","volume":"7","author":"Uitto","year":"2001","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib18","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.1365-2362.2004.01306.x","article-title":"High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum","volume":"34","author":"Annovazzi","year":"2004","journal-title":"Eur. J. Clin. Invest."},{"issue":"Suppl","key":"10.1016\/j.clindermatol.2004.09.006_bib19","first-page":"451","article-title":"Pseudoxanthoma elasticum development of a mouse model by targeted ablation of ABCC6","volume":"73","author":"Uitto","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib20","first-page":"407","article-title":"Chalazodermia, or \u201cloose skin,\u201d and its relationship to subcutaneous fibroids or calcareous nodules","volume":"27","author":"Weber","year":"1923","journal-title":"Urol. Cutan. Rev."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib21","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1001\/archderm.1965.01600160029006","article-title":"Cutis laxa. A manifestation of generalized elastolysis","volume":"92","author":"Goltz","year":"1965","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib22","first-page":"372","article-title":"Heritable disorders of connective tissue","author":"McKusick","year":"1972"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib23","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1136\/jmg.9.2.216","article-title":"The dominant and recessive forms of cutis laxa","volume":"9","author":"Beighton","year":"1972","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib24","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/S0022-3476(68)80341-5","article-title":"Cutis laxa associated with pulmonary artery stenosis","volume":"72","author":"Hayden","year":"1968","journal-title":"J. Pediatr."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib25","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng1094-195","article-title":"Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus","volume":"8","author":"Kaler","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib26","doi-asserted-by":"crossref","first-page":"1029S","DOI":"10.1093\/ajcn\/67.5.1029S","article-title":"Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency","volume":"67","author":"Kaler","year":"1998","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib27","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/hmg\/7.6.1021","article-title":"An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa","volume":"7","author":"Tassabehji","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib28","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1074\/jbc.274.2.981","article-title":"Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)","volume":"274","author":"Zhang","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib29","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S0945-053X(00)00099-8","article-title":"Genetic disorders of the elastic fiber system","volume":"19","author":"Milewicz","year":"2000","journal-title":"Matrix Biol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib30","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/415171a","article-title":"Fibulin-5\/DANCE is essential for elastogenesis in vivo","volume":"415","author":"Nakamura","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib31","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/415168a","article-title":"Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo","volume":"415","author":"Yanagisawa","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib32","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1086\/373940","article-title":"Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene","volume":"72","author":"Markova","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib33","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1093\/hmg\/11.18.2113","article-title":"Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa","volume":"11","author":"Loeys","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib34","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1399-0004.1997.tb02430.x","article-title":"Congenital cutis laxa and lysyl oxidase deficiency","volume":"51","author":"Khakoo","year":"1997","journal-title":"Clin. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib35","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/ng1297","article-title":"Elastic fiber homeostasis requires lysyl oxidase-like 1 protein","volume":"36","author":"Liu","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib36","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1046\/j.1365-2230.2002.01143.x","article-title":"Lipoid proteinosis","volume":"27","author":"Hamada","year":"2002","journal-title":"Clin. Exp. Dermatol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib37","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0140-6736(69)92476-3","article-title":"Genealogy of lipoid proteinosis","volume":"2","author":"Heyl","year":"1969","journal-title":"Lancet"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib38","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/hmg\/11.7.833","article-title":"Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)","volume":"11","author":"Hamada","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib39","doi-asserted-by":"crossref","first-page":"17491","DOI":"10.1074\/jbc.M210529200","article-title":"Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis","volume":"278","author":"Mongiat","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib40","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1046\/j.1523-1747.2003.12073.x","article-title":"Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation","volume":"120","author":"Hamada","year":"2003","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.clindermatol.2004.09.006_bib41","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S8756-3282(00)00428-2","article-title":"Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro","volume":"28","author":"Deckers","year":"2001","journal-title":"Bone"},{"key":"10.1016\/j.clindermatol.2004.09.006_bib42","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1096\/fj.99-0934com","article-title":"Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells","volume":"15","author":"Han","year":"2001","journal-title":"FASEB J."}],"container-title":["Clinics in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0738081X04001786?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0738081X04001786?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T13:26:08Z","timestamp":1548681968000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0738081X04001786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["S0738081X04001786"],"URL":"https:\/\/doi.org\/10.1016\/j.clindermatol.2004.09.006","relation":{},"ISSN":["0738-081X"],"issn-type":[{"value":"0738-081X","type":"print"}],"subject":[],"published":{"date-parts":[[2005,1]]}}}