{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:13:07Z","timestamp":1697652787458},"reference-count":39,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T00:00:00Z","timestamp":1101859200000},"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":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2004,12]]},"DOI":"10.1016\/j.ymgme.2004.07.013","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T22:45:53Z","timestamp":1095201953000},"page":"312-321","source":"Crossref","is-referenced-by-count":9,"title":["Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene"],"prefix":"10.1016","volume":"83","author":[{"given":"L.C.","family":"Walker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.S.","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Marini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. De","family":"Paepe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Malfait","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Atsawasuwan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Yamauchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.N.","family":"Yeowell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2004.07.013_bib1","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"5241","article-title":"Disorders of collagen biosynthesis and structure","author":"Byers","year":"2001"},{"key":"10.1016\/j.ymgme.2004.07.013_bib2","series-title":"Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects","first-page":"431","article-title":"The Ehlers-Danlos syndrome","author":"Steinmann","year":"2002"},{"key":"10.1016\/j.ymgme.2004.07.013_bib3","first-page":"229","article-title":"The Ehlers-Danlos syndromes","volume":"12","author":"Yeowell","year":"1993","journal-title":"Semin. Dermatol."},{"key":"10.1016\/j.ymgme.2004.07.013_bib4","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997","volume":"77","author":"Beighton","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2004.07.013_bib5","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1086\/376416","article-title":"Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13","volume":"73","author":"Rahman","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.07.013_bib6","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S0304-4165(02)00406-3","article-title":"Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations","volume":"1573","author":"Furukawa","year":"2002","journal-title":"Biochem. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2004.07.013_bib7","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1006\/mgme.2000.3076","article-title":"Mutations in the lysyl hydroxylase gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI","volume":"71","author":"Yeowell","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2004.07.013_bib8","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.30302","article-title":"Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation","author":"Walker","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2004.07.013_bib9","doi-asserted-by":"crossref","first-page":"6831","DOI":"10.1074\/jbc.272.11.6831","article-title":"Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle","volume":"272","author":"Valtavaara","year":"1997","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib10","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0945-053X(99)00013-X","article-title":"Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene","volume":"18","author":"Yeowell","year":"1999","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ymgme.2004.07.013_bib11","doi-asserted-by":"crossref","first-page":"12881","DOI":"10.1074\/jbc.273.21.12881","article-title":"Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase","volume":"273","author":"Valtavaara","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib12","doi-asserted-by":"crossref","first-page":"10482","DOI":"10.1073\/pnas.95.18.10482","article-title":"Cloning and characterization of a third human lysyl hydroxylase isoform","volume":"95","author":"Passoja","year":"1998","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2004.07.013_bib13","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1006\/geno.1994.1654","article-title":"Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients","volume":"24","author":"Heikkinen","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2004.07.013_bib14","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s003359900549","article-title":"Localization of the gene encoding a novel isoform of lysyl hydroxylase","volume":"8","author":"Szpirer","year":"1997","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.ymgme.2004.07.013_bib15","doi-asserted-by":"crossref","first-page":"20956","DOI":"10.1016\/S0021-9258(19)79924-4","article-title":"Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)","volume":"275","author":"Valtavaara","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib16","doi-asserted-by":"crossref","first-page":"40967","DOI":"10.1074\/jbc.M307380200","article-title":"Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis","volume":"278","author":"van der Slot","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib17","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/ajmg.a.30005","article-title":"A novel missense mutation in the galactosyltransferase (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid","volume":"128A","author":"Faiyaz-Ul-Haque","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2004.07.013_bib18","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1006\/mgme.1999.2824","article-title":"A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase gene","volume":"67","author":"Walker","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2004.07.013_bib19","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0174-173X(83)80030-2","article-title":"A comparison of lysyl hydroxylation in various types of collagen from type VI Ehlers-Danlos syndrome fibroblasts","volume":"3","author":"Murad","year":"1983","journal-title":"Coll. Rel. Res."},{"key":"10.1016\/j.ymgme.2004.07.013_bib20","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","article-title":"Single step method for RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction","volume":"162","author":"Chomczynski","year":"1987","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib21","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/0003-9861(91)90430-Q","article-title":"Hydralazine differentially increases mRNAs for the \u03b1 and \u03b2 subunits of prolyl 4-hydroxylase whereas it decreases pro\u03b1(I) collagen mRNAs in human skin fibroblasts","volume":"289","author":"Yeowell","year":"1991","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.ymgme.2004.07.013_bib22","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1111\/1523-1747.ep12614840","article-title":"Characterization of a partial cDNA for lysyl hydroxylase from human skin fibroblasts; lysyl hydroxylase mRNAs are regulated differently by minoxidil derivatives and hydralazine","volume":"99","author":"Yeowell","year":"1992","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ymgme.2004.07.013_bib23","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/1523-1747.ep12371799","article-title":"Sequence analysis of a cDNA for lysyl hydroxylase isolated from human skin fibroblasts from a normal donor: differences from human placental lysyl hydroxylase cDNA","volume":"102","author":"Yeowell","year":"1994","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ymgme.2004.07.013_bib24","doi-asserted-by":"crossref","first-page":"7115","DOI":"10.1093\/nar\/17.17.7115","article-title":"Northern blot normalization with a 28S rRNA oligonucleotide probe","volume":"17","author":"Barbu","year":"1989","journal-title":"Nucleic Acid Res."},{"key":"10.1016\/j.ymgme.2004.07.013_bib25","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3109\/03008208509152396","article-title":"Serum stimulation of lysyl hydroxylase activity in cultured human skin fibroblasts","volume":"13","author":"Murad","year":"1985","journal-title":"Connect. Tissue Res."},{"key":"10.1016\/j.ymgme.2004.07.013_bib26","first-page":"783","article-title":"Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome, type VI","volume":"36","author":"Dembure","year":"1984","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.07.013_bib27","doi-asserted-by":"crossref","first-page":"4907","DOI":"10.1021\/bi00365a027","article-title":"Intermolecular cross-linking and stereospecific molecular packing in type I collagen fibrils of the periodontal ligament","volume":"25","author":"Yamauchi","year":"1986","journal-title":"Biochemistry"},{"key":"10.1016\/j.ymgme.2004.07.013_bib28","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1006\/bbrc.1996.0229","article-title":"Cross-linking and the molecular packing of corneal collagen","volume":"219","author":"Yamauchi","year":"1996","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2004.07.013_bib29","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1359\/jbmr.1999.14.8.1272","article-title":"Differential expression of human lysyl hydroxylase genes, lysyl hydroxylation and cross-linking of type I collagen during osteoblastic differentiation in vitro","volume":"14","author":"Uzawa","year":"1999","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.ymgme.2004.07.013_bib30","first-page":"277","article-title":"Lysine hydroxylation and crosslinking of collagen","volume":"194","author":"Yamauchi","year":"2002","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ymgme.2004.07.013_bib31","doi-asserted-by":"crossref","first-page":"11973","DOI":"10.1016\/S0021-9258(18)45304-5","article-title":"Suppression of fibroblast proliferation and lysyl hydroxylase activity by minoxidil","volume":"262","author":"Murad","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib32","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/S0022-3476(78)80423-5","article-title":"Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response","volume":"92","author":"Elsas","year":"1978","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.07.013_bib33","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/1523-1747.ep12326956","article-title":"The expression of a functional, secreted human lysyl hydroxylase in a baculovirus system","volume":"106","author":"Krol","year":"1996","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ymgme.2004.07.013_bib34","article-title":"Novel lysyl hydroxylase isoforms","volume":"334","author":"Valtavaara","year":"1999","journal-title":"Acta Universitatis Ouluensis A"},{"key":"10.1016\/j.ymgme.2004.07.013_bib35","doi-asserted-by":"crossref","first-page":"23084","DOI":"10.1074\/jbc.M112077200","article-title":"Characterization of three fragments that constitute the monomers of the human lysyl hydroxylase isoenzymes 1\u20133","volume":"277","author":"Rautavuoma","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib36","unstructured":"M.A. Overstreet, L.C. Walker, K. Takaluoma, J. Myllyharju, H.N. Yeowell, Contrasting activities of the alternatively spliced forms of lysyl hydroxylase 2 (LH2) may result from collagen domain-specific lysyl hydroxylation, J. Invest. Derm. 122 (March) (2004) 511 (Abstract)"},{"key":"10.1016\/j.ymgme.2004.07.013_bib37","doi-asserted-by":"crossref","first-page":"26165","DOI":"10.1074\/jbc.274.37.26165","article-title":"Cloning and expression of a proteoglycan UDP-galactose:beta\u2013xylosebeta1,4-galactosyltransferase I.A seventh member of the human beta4-galactosyltransferase gene family","volume":"274","author":"Almeida","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2004.07.013_bib38","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1073\/pnas.87.4.1342","article-title":"A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome","volume":"87","author":"Quentin","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2004.07.013_bib39","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S0006-291X(03)01262-2","article-title":"Identification, expression, and tissue distribution of the three rat lysyl hydroxylase isoforms","volume":"307","author":"Mercer","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204002021?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204002021?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T18:23:40Z","timestamp":1624645420000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719204002021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12]]},"references-count":39,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["S1096719204002021"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2004.07.013","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2004,12]]}}}