{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T10:56:17Z","timestamp":1773658577819,"version":"3.50.1"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2008,2,16]],"date-time":"2008-02-16T00:00:00Z","timestamp":1203120000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetica"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1007\/s10709-008-9245-y","type":"journal-article","created":{"date-parts":[[2008,2,15]],"date-time":"2008-02-15T13:05:44Z","timestamp":1203080744000},"page":"377-383","source":"Crossref","is-referenced-by-count":6,"title":["Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease"],"prefix":"10.1007","volume":"134","author":[{"given":"Michael","family":"Teitcher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Weinerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catharina","family":"Whybra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nir","family":"Sharon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Elstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,2,16]]},"reference":[{"key":"9245_CR1","first-page":"103","volume":"8","author":"G Altarescu","year":"2004","unstructured":"Altarescu G, Elstein D (2004) Cardiac abnormalities in Fabry disease: natural history in hemizygote males suggests that cardiac pathology is universally present. Haema 8:103\u2013108","journal-title":"Haema"},{"key":"9245_CR2","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1080\/08035320600618924","volume":"95","author":"F Barbey","year":"2006","unstructured":"Barbey F, Brakch N, Linhart A, Jeanrenaud X, Palecek T, Bultas J, Burnier M, Hayoz D (2006a) Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl 95:63\u201368","journal-title":"Acta Paediatr Suppl"},{"key":"9245_CR3","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1161\/01.ATV.0000209649.60409.38","volume":"26","author":"F Barbey","year":"2006","unstructured":"Barbey F, Brakch N, Linhart A, Rosenblatt-Velin N, Jeanrenaud X, Qanadli S, Steinmann B, Burnier M, Palecek T, Bultas J, Hayoz D (2006b) Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 26:839\u2013844","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"9245_CR4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1067\/mlc.2001.112095","volume":"137","author":"NH Bell","year":"2001","unstructured":"Bell NH, Morrison NA, Nguyen TV, Eisman J, Hollis BW (2001) ApaI polymorphisms of the vitamin D receptor predict bone density of the lumbar spine and not racial difference in bone density in young men. J Lab Clin Med 137:133\u2013140","journal-title":"J Lab Clin Med"},{"key":"9245_CR5","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1651-2227.2002.tb03113.x","volume":"91","author":"P Boutouyrie","year":"2002","unstructured":"Boutouyrie P, Laurent S, Laloux B, Lidove O, Grunfeld JP, Germain DP (2002) Arterial remodelling in Fabry disease. Acta Paediatr Suppl 91:62\u201366","journal-title":"Acta Paediatr Suppl"},{"key":"9245_CR6","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","volume":"276","author":"RO Brady","year":"1967","unstructured":"Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163\u20131167","journal-title":"N Engl J Med"},{"key":"9245_CR7","first-page":"281","volume":"11","author":"RJ Desnick","year":"1981","unstructured":"Desnick RJ, Grabowski GA (1981) Advances in the treatment of inherited metabolic diseases. Adv Hum Genet 11:281\u2013369","journal-title":"Adv Hum Genet"},{"key":"9245_CR8","doi-asserted-by":"crossref","unstructured":"Elleder M, Bradova V, Smid F, Budesinsky M, Harzer K, Kustermann-Kuhn B, Ledvinova J, Belohlavek, Kral V, Dorazilova V (1990) Cardiocyte storage and hypertrophy as a sole manifestation of Fabry\u2019s disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417:449\u2013455","DOI":"10.1007\/BF01606034"},{"key":"9245_CR9","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/01213011-200505000-00011","volume":"15","author":"JA Halsall","year":"2005","unstructured":"Halsall JA, Osborne JE, Pringle JH, Hutchinson PE (2005) Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis. Pharmacogenet Genomics 15:349\u2013355","journal-title":"Pharmacogenet Genomics"},{"key":"9245_CR10","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1359\/jbmr.1997.12.7.1043","volume":"12","author":"SS Harris","year":"1997","unstructured":"Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D (1997) The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women. J Bone Miner Res 12:1043\u20131048","journal-title":"J Bone Miner Res"},{"key":"9245_CR11","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1007\/s10545-006-0340-x","volume":"29","author":"RJ Kalliokoski","year":"2006","unstructured":"Kalliokoski RJ, Kalliokoski KK, Penttinen M, Kantola I, Leino A, Viikari JS, Simell O, Nuutila P, Raitakari OT (2006) Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis 29:660\u2013666","journal-title":"J Inherit Metab Dis"},{"key":"9245_CR12","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s00223-004-0215-9","volume":"75","author":"CM Kammerer","year":"2004","unstructured":"Kammerer CM, Dualan AA, Samollow PB, Perisse AR, Bauer RL, MacCluer JW, O\u2019Leary DH, Mitchell BD (2004) Bone mineral density, carotid artery intimal medial thickness, and the vitamin D receptor BsmI polymorphism in Mexican American women. Calcif Tissue Int 75:292\u2013298","journal-title":"Calcif Tissue Int"},{"key":"9245_CR13","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1016\/S0735-1097(02)02380-X","volume":"40","author":"C Kampmann","year":"2002","unstructured":"Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M (2002) Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 40:1668\u20131674","journal-title":"J Am Coll Cardiol"},{"key":"9245_CR14","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1002\/bjs.1800830820","volume":"83","author":"MD Lamawansa","year":"1996","unstructured":"Lamawansa MD, Wysocki SJ, House AK, Norman PE (1996) Vitamin D3 exacerbates intimal hyperplasia in balloon-injured arteries. Br J Surg 83:1101\u20131103","journal-title":"Br J Surg"},{"key":"9245_CR15","doi-asserted-by":"crossref","first-page":"e103","DOI":"10.1371\/journal.pmed.0040103","volume":"4","author":"H Li","year":"2007","unstructured":"Li H, Stampfer MJ, Hollis JB, Mucci LA, Gaziano JM, Hunter D, Giovannucci EL, Ma J (2007) A prospective study of plasma vitamin D metabolites, vitamin D receptor polymorphisms, and prostate cancer. PLoS Med 4:e103","journal-title":"PLoS Med"},{"key":"9245_CR16","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1067\/mhj.2000.105105","volume":"139","author":"A Linhart","year":"2000","unstructured":"Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudova J, Karetova D, Zeman J, Ledvinova J, Poupetova H, Elleder M, Aschermann M (2000) New insights in cardiac structural changes in patients with Fabry\u2019s disease. Am Heart J 139:1101\u20131108","journal-title":"Am Heart J"},{"key":"9245_CR17","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/jmg.2004.024752","volume":"42","author":"PY Liu","year":"2005","unstructured":"Liu PY, Zhang YY, Lu Y, Long JR, Shen H, Zhao LJ, Xu FH, Xiao P, Xiong DH, Liu YJ, Recker RR, Deng HW (2005) A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases. J Med Genet. 42:221\u2013227","journal-title":"J Med Genet."},{"key":"9245_CR18","first-page":"385","volume":"7","author":"J Ma","year":"1998","unstructured":"Ma J, Stampfer MJ, Gann PH, Hough HL, Giovannucci E, Kelsey KT, Hennekens CH, Hunter DJ (1998) Vitamin D receptor polymorphisms, circulating vitamin D metabolites, and risk of prostate cancer in United States physicians. Cancer Epidemiol Biomarkers Prev 7:385\u2013390","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"9245_CR19","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1080\/08035320600618809","volume":"95","author":"EM Maier","year":"2006","unstructured":"Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC (2006) Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl 95:30\u201338","journal-title":"Acta Paediatr Suppl"},{"key":"9245_CR20","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1172\/JCI114097","volume":"83","author":"J Merke","year":"1989","unstructured":"Merke J, Milde P, Lewicka S, Hugel U, Klaus G, Mangelsdorf DJ, Haussler MR, Rauterberg EW, Ritz E (1989) Identification and regulation of 1,25-dihydroxyvitamin D3 receptor activity and biosynthesis of 1,25-dihydroxyvitamin D3. Studies in cultured bovine aortic endothelial cells and human dermal capillaries. J Clin Invest 83:1903\u20131915","journal-title":"J Clin Invest"},{"key":"9245_CR21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2261-2-1","volume":"2","author":"DF Moore","year":"2002","unstructured":"Moore DF, Altarescu G, Pursley R, Campia U, Panza JA, Dimitriadis E, Schiffmann R (2002) Arterial wall properties and Womersley flow in Fabry disease. BMC Cardiovasc Disord 2:1","journal-title":"BMC Cardiovasc Disord"},{"key":"9245_CR22","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","volume":"333","author":"S Nakao","year":"1995","unstructured":"Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H et\u00a0al (1995) An atypical variant of Fabry\u2019s disease in men with left ventricular hypertrophy. N Engl J Med 333:288\u2013293","journal-title":"N Engl J Med"},{"key":"9245_CR23","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1086\/321272","volume":"69","author":"JK Pritchard","year":"2001","unstructured":"Pritchard JK (2001) Are rare variants responsible for susceptibility to complex diseases? Am J Hum Gen 69:124\u2013137","journal-title":"Am J Hum Gen"},{"key":"9245_CR24","first-page":"271","volume":"17","author":"R Safyan","year":"2006","unstructured":"Safyan R, Whybra C, Beck M, Elstein D, Altarescu G (2006) An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw 17:271\u2013275","journal-title":"Eur Cytokine Netw"},{"key":"9245_CR25","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1161\/01.HYP.21.2.253","volume":"21","author":"T Shimosawa","year":"1993","unstructured":"Shimosawa T, Ando K, Fujita T (1993) Enhancement of vasoconstrictor response by a noncalcemic analogue of vitamin D3. Hypertension 21:253\u2013258","journal-title":"Hypertension"},{"key":"9245_CR26","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1086\/379378","volume":"73","author":"M Stephens","year":"2003","unstructured":"Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Gen 73:1162\u20131169","journal-title":"Am J Hum Gen"},{"key":"9245_CR27","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/319501","volume":"68","author":"M Stephens","year":"2001","unstructured":"Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Gen 68:978\u2013989","journal-title":"Am J Hum Gen"},{"key":"9245_CR28","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1007\/s00198-004-1601-x","volume":"15","author":"A Thakkinstian","year":"2004","unstructured":"Thakkinstian A, D\u2019Este C, Attia J (2004) Haplotype analysis of VDR gene polymorphisms: a meta-analysis. Osteoporos Int 15:729\u2013734","journal-title":"Osteoporos Int"},{"key":"9245_CR29","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/qjmed\/95.12.787","volume":"95","author":"PM Timms","year":"2002","unstructured":"Timms PM, Mannan N, Hitman GA, Noonan K, Mills PG, Syndercombe-Court D, Aganna E, Price CP, Boucher BJ (2002) Circulating MMP9, vitamin D and variation in the TIMP-1 response with VDR genotype: mechanisms for inflammatory damage in chronic disorders? QJM 95:787\u2013796","journal-title":"QJM"},{"key":"9245_CR30","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S8756-3282(96)00228-1","volume":"19","author":"KS Tsai","year":"1996","unstructured":"Tsai KS, Hsu SH, Cheng WC, Chen CK, Chieng PU, Pan WH (1996) Bone mineral density and bone markers in relation to vitamin D receptor gene polymorphisms in Chinese men and women. Bone 19:513\u2013518","journal-title":"Bone"},{"key":"9245_CR31","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/eji.200636043","volume":"37","author":"E Etten van","year":"2007","unstructured":"van Etten E, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, Ferreira GB, Overbergh L, Verstuyf A, Bouillon R, Roep BO, Badenhoop K, Mathieu C (2007) The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol 37:395\u2013405","journal-title":"Eur J Immunol"},{"key":"9245_CR32","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1096\/fasebj.12.13.1409","volume":"12","author":"FJ Schooten Van","year":"1998","unstructured":"Van Schooten FJ, Hirvonen A, Maas LM, De Mol BA, Kleinjans JC, Bell DA, Durrer JD (1998) Putative susceptibility markers of coronary artery disease: association between VDR genotype, smoking, and aromatic DNA adduct levels in human right atrial tissue. FASEB J 12:1409\u20131417","journal-title":"FASEB J"},{"key":"9245_CR33","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","volume":"65","author":"C Whybra","year":"2004","unstructured":"Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E et\u00a0al (2004) The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65:299","journal-title":"Clin Genet"},{"key":"9245_CR34","first-page":"206","volume":"7","author":"JR Wu-Wong","year":"2006","unstructured":"Wu-Wong JR, Tian J, Nakane M, Ma J, Fey TA, Kroeger P, Fryer RM, Reinhart GA (2006a) Cardiovascular disease in chronic kidney failure: the role of VDR activators. Curr Opin Investig Drugs 7:206\u2013213","journal-title":"Curr Opin Investig Drugs"},{"key":"9245_CR35","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.atherosclerosis.2005.06.046","volume":"186","author":"R Wu-Wong","year":"2006","unstructured":"Wu-Wong R, Nakane M, Ma J, Ruan X, Kroeger PE (2006b) Effects of Vitamin D analogs on gene expression profiling in human coronary artery smooth muscle cells. Atherosclerosis 186:20\u201328","journal-title":"Atherosclerosis"},{"key":"9245_CR36","doi-asserted-by":"crossref","first-page":"E125","DOI":"10.1152\/ajpendo.00224.2004","volume":"288","author":"W Xiang","year":"2005","unstructured":"Xiang W, Kong J, Chen S, Cao LP, Qiao G, Zheng W, Liu W, Li X, Gardner DG, Li YC (2005) Cardiac hypertrophy in vitamin D receptor knockout mice: role of the systemic and cardiac renin-angiotensin systems. Am J Physiol Endocrinol Metab 288:E125\u2013E132","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"9245_CR37","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1007\/s007740050080","volume":"17","author":"M Yamagata","year":"1999","unstructured":"Yamagata M, Nakajima S, Tokita A, Sakai N, Yanagihara I, Yabuta K, Ozono K (1999) Analysis of the stable levels of messenger RNA derived from different polymorphic alleles in the vitamin D receptor gene. J Bone Miner Metab 17:164\u2013170","journal-title":"J Bone Miner Metab"},{"key":"9245_CR38","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1681\/ASN.V133621","volume":"13","author":"D Zehnder","year":"2002","unstructured":"Zehnder D, Bland R, Chana RS, Wheeler DC, Howie AJ, Williams MC, Stewart PM, Hewison M (2002) Synthesis of 1,25-dihydroxyvitamin D(3) by human endothelial cells is regulated by inflammatory cytokines: a novel autocrine determinant of vascular cell adhesion. J Am Soc Nephrol 13:621\u2013629","journal-title":"J Am Soc Nephrol"}],"container-title":["Genetica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10709-008-9245-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10709-008-9245-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10709-008-9245-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T08:46:30Z","timestamp":1630745190000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10709-008-9245-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,16]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["9245"],"URL":"https:\/\/doi.org\/10.1007\/s10709-008-9245-y","relation":{},"ISSN":["0016-6707","1573-6857"],"issn-type":[{"value":"0016-6707","type":"print"},{"value":"1573-6857","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,16]]}}}