Jouni Uitto, MD, PhD


Jouni UittoProfessor and Chair
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College

Director, Jefferson Institute of Molecular Medicine, Thomas Jefferson University
Philadelphia, PA


Jouni Uitto, MD, PhD, has been Professor of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, and Chair of the Department of Dermatology and Cutaneous Biology at Sidney Kimmel Medical College in Philadelphia, Pennsylvania, since 1986. He is also Director of the Jefferson Institute of Molecular Medicine at Thomas Jefferson University. He received his MD and PhD degrees from the University of Helsinki, Finland, and completed his residency training in dermatology at Washington University School of Medicine in St. Louis, Missouri.

Dr. Uitto is internationally recognized for his research on connective tissue biology and molecular genetics in relation to cutaneous diseases. The overall goal of this research is to elucidate the underlying molecular defects in collagen, elastin, and the basement membrane zone macromolecules that would explain the clinical phenotype in acquired and heritable connective tissue disorders. In particular, Dr. Uitto's group is interested in structural and regulatory mutations that lead to altered synthesis of the extracellular matrix components in heritable connective tissue disorders. An example of such conditions is pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by aberrant mineralization of soft connective tissues, primarily in the skin, the eyes, and the cardiovascular system. Dr. Uitto´s group, as part of a consortium sponsored by PXE International, first characterized the chromosomal locus for PXE and then identified the mutated gene as ABCC6. Well over 300 families have now been shown to harbor mutations in this gene. Dr. Uitto´s group has also developed a transgenic mouse (Abcc6-/-) that recapitulates the features of human PXE, and this mouse model is currently being used for detailed analysis of the mechanisms leading to unwanted mineralization as a result of ABCC6 mutations in, as well as for development of novel treatment modalities for, this currently intractable condition.



Dr. Uitto's publications include 661 original articles in peer-reviewed journals, 310 textbook chapters and review articles, and 959 abstracts on presentations at national and international meetings. Dr Uitto has been the recipient of numerous national and international awards, including Honorary Doctorate degrees from the University of Kuopio, University of Oulu and University of Turku, all in Finland, as well as China Medical University, Shenyang; Hebei United University, Tangshan; and The Fourth Military Medical University, Xi’an. In 2012 he was appointed to the membership of The National Academy of Science and Letters of Finland.

Dr. Uitto has held office in several scientific and professional societies, including President of the Society for Investigative Dermatology; and President and Chairman of the Board of Dermatology Foundation. Dr Uitto is also Section Editor of the Journal of Investigative Dermatology, Associate Editor of the American Journal of Pathology, and he is on the editorial boards of numerous peer-reviewed journals.

Jouni Uitto received the 2010 PXE International Research Award for his prolific and comprehensive contributions to the understanding of pseudoxanthoma elasticum.

Webinar PXE - Can Diet Help? (October 2012)
Webinar Do Mice Have PXE, and Why Study Them? (September 2009)

 


Areas of Interest


Genetics of PXEABCC6 ProteinAssay DevelopmentPXE Animal ModelsPXE and the MetabolismClinical ManifestationsEpidemiology of PXE

 


Publications


Li Q, Kingman J, Uitto J. Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6-/- mice. Cell Cycle. 2015 Jul 22;0 [Epub ahead of print]. PMID: 26199043

Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, Uitto J, Wang G. Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. J Invest Dermatol. 2015 May;135(5):1294-302. PMID: 25615550

Li Q, Sundberg JP, Levine MA, Terry SF, Uitto J. The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene. Cell Cycle. 2015;14(7):1082-9. PMID: 25607347

Li Q, Pratt CH, Dionne LA, Fairfield H, Karst SY, Sundberg JP, Uitto J. Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. PLoS One. 2014 Dec 5;9(12):e113542. doi: 10.1371/journal.pone.0113542. eCollection 2014. Free article in PubMed. PMID: 25479107

Boraldi F, Bartolomeo A, Li Q, Uitto J, Quaglino D. Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissuue mineralization. J Invest Dermatol. 2014 Jul;134(7):1855-61. PMID: 24670382

Li Q, Uitto J. Zebrafish as a model system to study skin biology and pathology. J Invest Dermatol. 2014 Jun;134(6):e21. PMID: 24825064

Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes. Int J Dermatol. 2014 Jun;53(6):692-8. PMID: 23675997

Li Q, Chou DW, Price TP, Sundberg JP, Uitto J. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. Lab Invest. 2014 Jun;94(6):623-32. PMID: 24732453

Pomozi V, Brampton C, Fülöp K, Chen LH, Apana A, Li Q, Uitto J, Le Saux O, Váradi A. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo: pharmacological correction of the mislocalized proteins. J Invest Dermatol. 2014 Apr;134(4):946-53. PMID: 24352041

Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol. 2014 Mar;134(3):658-65. PMID: 24008425

Li Q, Guo H, Chou DW, Berndt A, Sundberg JP, Uitto J. Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes. PLoS One. 2014 Feb 19;9(2):e89268. Free article in PubMed. PMID: 24586646

Li Q, Jiang Q, Uitto J. Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification. Matrix Biol. 2014 Jan;33:23-8. PMID: 23891698

2013

Zhou Y, Jiang Q, Takahagi S, Shao C, Uitto J. Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol. 2013 Dec;133(12):2672-7. Free article in PubMed. PMID: 23702584

Kupetsky EA, Rincon F, Uitto J. Rate of change of carotid intima-media thickness with magnesium administration in Abcc6⁻/⁻ mice. Clin Transl Sci. 2013 Dec;6(6):485-6. PMID: 24330694 

Faria CS, Li Q, Guo H, Uitto J, Takeno SS, de Arruda Cardoso Smith M, Freire-Maia DV. Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum. Acta Derm Venereol. 2013 Nov;93(6):739-40. Free article at Journal Website. PMID: 23572048

Li Q, Baker J, Kowalczyk J, Jiang Q, Uitto J, Schachner L. Paediatric pseudoxanthoma elasticum with cardiovascular involvement. Br J Dermatol. 2013 Nov;169(5):1148-51. PMID: 23746223

Guo H, Li Q, Chou DW, Uitto J. Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6 -/-). J Mol Med (Berl). 2013 Oct;91(10):1177-84. PMID: 23807484

Li Q, Uitto J. Mineralization/anti-mineralization networks in the skin and vascular connective tissues. Am J Pathol. 2013 Jul;183(1):10-8. PMID: 23665350

Uitto J, Váradi A, Bercovitch L, Terry PF, Terry SF. Pseudoxanthoma elasticum: Progress in research toward treatment: Summary of the 2012 PXE International research meeting. J Invest Dermatol. 2013 Jun;133(6):1444-9. Free article at Journal WebsiteLay Summary. PMID: 23673496

Schurgers LJ, Uitto J, Reutelingsperger CP. Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization. Trends Mol Med. 2013 Apr;19(4):217-26. Review. PMID: 23375872

Li Q, Guo H, Chou DW, Harrington DJ, Schurgers LJ, Terry SF, Uitto J. Warfarin accelerates ectopic mineralization in abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum. Am J Pathol. 2013 Apr;182(4):1139-50. Free article in PubMedLay Summary. PMID: 23415960

Berndt A, Li Q, Potter CS, Liang Y, Silva KA, Kennedy V, Uitto J, Sundberg JP. A single-nucleotide polymorphism in the abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol. 2013 Mar;133(3):833-6. Free article in PubMed. PMID: 23014343 

Li Q, Uitto J. Zebrafish as a model system to study heritable skin diseases. Methods Mol Biol. 2013;961:411-24 PMID: 23325661

2012

Li Q, Uitto J. Heritable ectopic mineralization disorders: The paradigm of pseudoxanthoma elasticum. J Invest Dermatol. 2012 Nov;132(E1):E15-9. Free article in PubMed. PMID: 23154625

Uitto J. Milestones in genetics of structural skin disorders. J Invest Dermatol. 2012 Nov 15;132(E1):E1. Free article at Journal Website. PMID: 23154623

Uitto J. Rare heritable skin diseases: targets for regenerative medicine. J Invest Dermatol. 2012 Nov;132(11):2485-8. Free article at Journal Website. PMID: 23069901

Uitto J. Molecular therapeutics for heritable skin diseases. J Invest Dermatol. 2012 Nov 15;132(E1):E29-34. Review. Free article in PubMed. PMID: 23154630

Jiang Q, Takahagi S, Uitto J. Administration of bone marrow derived mesenchymal stem cells into the liver: Potential to rescue pseudoxanthoma elasticum in a mouse model (Abcc6-/-). J Biomed Biotechnol. 2012;2012:818937. doi: 10.1155/2012/818937. Epub 2012 Nov 26. Free article in PubMed. PMID: 23251082

Li Q, Berndt A, Guo H, Sundberg JP, Uitto J. A novel animal model for pseudoxanthoma elasticum: The KK/HlJ mouse. Am J Pathol. 2012 Oct;181(4):1190-6. Free article in PubMed. PMID: 22846719

Jiang Q, Uitto J. Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)). Exp Dermatol. 2012 Sep;21(9):694-9. Free article in PubMed. PMID: 22897576

Li Q, Guo H, Matsui H, Honda H, Inaba T, Sundberg JP, Sprecher E, Uitto J. Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. Exp Dermatol. 2012 Jul;21(7):554-6. Free article in PubMed. PMID: 22716256

Kupetsky-Rincon EA, Li Q, Uitto J. Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: A novel treatment biomarker. Clin Translat Sci. 2012 Jun;5(3):259-64. Free article in PubMed. PMID: 22686203

Li Q, Schumacher W, Siegel D, Jablonski D, Uitto J. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol. 2012 May;166(5):1107-11. PMID: 22229486

Kavukcuoglu NB, Li Q, Pleshko N, Uitto J. Connective tissue mineralization in Abcc6(-/-) mice, a model for pseudoxanthoma elasticum. Matrix Biol. 2012 May;31(4):246-52. Free article in PubMed. PMID: 22421595

Uitto J, Christiano AM, McLean WH, McGrath JA. Novel molecular therapies for heritable skin disorders. J Invest Dermatol. 2012 Mar;132(3 Pt 2):820-8. Review. Free article in PubMed. PMID: 22158553

2011

Fülöp K, Jiang Q, Wetering KV, Pomozi V, Szabó PT, Arányi T, Sarkadi B, Borst P, Uitto J, Váradi A. ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Biochem Biophys Res Commun. 2011 Nov 25;415(3):468-71. Free article in PubMed. PMID: 22056557

Szabó Z, Váradi A, Li Q, Uitto J. ABCC6 does not transport adenosine - Relevance to pathomechanism of pseudoxanthoma elasticum. Mol Genet Metab. 2011 Nov;104(3):421. PMID: 21813308

LaRusso J, Li Q, Uitto J. Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders – can diet help? J Dtsch Dermatol Ges. 2011 Aug;9(8);586-93. Watch the webinar.  Free article in PubMed PMID: 21435181

Uitto J, Bercovitch L, Terry SF, Terry PF. Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A. 2011 Jul;155(7):1517-26. Patient summaryFree article in PubMed. PMID: 21671388

Li Q, Uitto J. Expression of the Abca-subfamily of genes in Abcc6-/- mice – upregulation of Abca4. Exp Dermatol. 2011 May;20(5):452-54. Free article in PubMed. PMID: 21435020

Li Q, Sadowski S, Uitto J. Angioid streaks in pseudoxanthoma elasticum: role of the p.R1268Q mutation in the ABCC6 gene. J Invest Dermatol. 2011 Mar;131(3):782-85. Free article in PubMed. PMID: 21179111

Li Q, Frank M, Thisse C, Thisse BV, Uitto J. Zebrafish: A model system to study heritable skin diseases. J Invest Dermatol. 2011 Mar;131(3):565-71. Free article in PubMed. PMID: 21191402

Jiang Q, Li Q, Grand-Pierre AE, Schurgers LJ, Uitto J. Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Cell Cycle. 2011 Feb;10(4):701-07. Free article in PubMed. PMID: 21304270

2010

Larusso J, Ringpfeil F, Uitto J. Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy. Clin Transl Sci. 2010 Dec;3(6):295-98. Free article at journal website. PMID: 21167005

Li Q, Sadowski S, Frank M, Chai C, Varadi A, Ho S, Lou H, Dean M, Thisse C, Thisse B, Uitto J. The abcc6a gene is required for normal zebrafish development. J Invest Dermatol. 2010 Nov;130(11):2561-68. Free article in PubMed. PMID: 20596085

Li Q, Török L, Kocsis L, and Uitto J. Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum - presymptomatic testing with prognostic implications. Br J Dermatol. 2010 Sep;163(3):641-3. Free article in PubMed. PMID: 20491760

Jiang Q, Dibra F, Lee MD, Oldenburg R, Uitto J. Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)). J Invest Dermatol. 2010 May;130(5):1288-96. Free article in PubMed. PMID: 20090764

Jiang Q, Oldenburg R, Otsuru S, Grand-Pierre AE, Horwitz EM, Uitto J. Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J Pathol. 2010 Apr;176(4):1855-62. Free article in PubMedPatient Summary. PMID: 20185580

Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010 Mar;130(3):661-70. Free article in PubMed. PMID: 20032990

Li Q, Uitto J. The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background-a model for pseudoxanthoma elasticum. J Mol Med (Berl). 2010 Feb;88(2):173-81. Free article in PubMed. PMID: 19784827

2009

Li Q, Larusso J, Grand-Pierre AE, Uitto J. Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum. Clin Transl Sci. 2009 Dec;2(6):398-404. Free article in PubMed. PMID: 20443931

Larusso J, Li Q, Jiang Q, Uitto J. Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)). J Invest Dermatol. 2009 Jun;129(6):1388-94. Free article in PubMedPatient Summary. PMID: 19122649

Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol. 2009 Mar;129(3):553-63. Free article in PubMed. PMID: 18800149

Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol. 2009 Feb;129(2):348-54. Free article in PubMedPatient Summary. PMID: 18685618

Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol. 2009 Feb;174(2):534-40.  Free article in PubMed. PMID: 19116367

Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009 Jan;18(1):1-11. Free article at Journal Website. PMID: 19054062

2008

Li Q, Jiang Q, Uitto J. Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). J Invest Dermatol. 2008 May;128(5):1160-4. Free article in PubMed. PMID: 18049453

LaRusso J, Jiang Q, Li Q, Uitto J. Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study. Exp Dermatol. 2008 Mar;17(3):203-7.Free article in PubMed. PMID: 17979973

Pfendner EG, Uitto J, Gerard GF, Terry SF. Pseudoxanthoma elasticum: genetic diagnostic markers. Expert Opin Med Diagn. 2008 Jan;2(1):63-79. PMID: 23485117

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008 Jan;29(1):205.Free article at Journal Website. PMID: 18157818

2007

Li Q, Jiang Q, Schurgers LJ, Uitto J. Pseudoxanthoma elasticum: Reduced gamma-glutamyl carboxylation of matrix gla protein in mouse model (Abcc6 (-/-)). Biochem Biophys Res Commun. 2007 Dec 14;364(2):208-13.Free article in PubMed. PMID: 17942075

Li Q, Jiang Q, Larusso J, Klement JF, Sartorelli AC, Belinsky MG, Kruh GD, Uitto J. Targeted ablation of Abcc1 or Abcc3 in Abcc6 (-/-) mice does not modify the ectopic mineralization process. Exp Dermatol. 2007 Oct;16(10):853-9. PMID: 17845218

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a la rge international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct;44(10):621-8. Free article in PubMedPatient Summary. PMID: 17617515

Jiang Q, Li Q, Uitto J. Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol. 2007 Jun;127(6):1392-402. Free article at Journal Website. PMID: 17273159

Uitto J, Jiang Q. Pseudoxanthoma elasticum-like phenotypes: more diseases than one. J Invest Dermatol. 2007 Mar;127(3):507-10. Free article at Journal Website. PMID: 17299431

Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007 Feb;8(2):157-64. Free article. PMID: 17230202

2006 and prior

Jiang Q, Uitto J. Pseudoxanthoma elasticum: a metabolic disease? J Invest Dermatol. 2006 Jul;126(7):1440-1. Free article at Journal Website. PMID: 16778810

Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol. 2006 Apr;126(4):782-6.Free article at Journal Website. PMID: 16410789

Jiang Q, Matsuzaki Y, Li K, Uitto J. Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene. J Invest Dermatol. 2006 Feb;126(2):325-35. Free article at Journal Website. PMID: 16374464

Matsuzaki Y, Nakano A, Jiang QJ, Pulkkinen L, Uitto J. Tissue-specific expression of the ABCC6 gene. J Invest Dermatol. 2005 Nov;125(5):900-5. Free article at Journal Website. PMID: 16297187

Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N, Li K, Pulkkinen L, Birk DE, Sundberg JP,Uitto J. Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol. 2005 Sep;25(18):8299-310. Free article in PubMed. PMID: 16135817

Uitto J. The gene family of ABC transporters--novel mutations, new phenotypes. Trends Mol Med. 2005 Aug;11(8):341-3. Review. PMID: 15996518

Uitto J. Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface? J Invest Dermatol. 2004 Mar;122(3):ix-x. Free article at Journal Website. PMID: 15086584

Uitto J, Pulkkinen L, Ringpfeil F. Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum. J Investig Dermatol Symp Proc. 2002 Dec;7(1):6-16. Review. Free article at Journal Website. PMID: 12518787

Pulkkinen L, Nakano A, Ringpfeil F, Uitto J. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Hum Genet. 2001 Sep;109(3):356-65. PMID: 11702217

Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001 Aug;10(4):221-8. Free article at Journal Website. PMID: 11493310

Uitto J. Patient advocacy organizations partner genetic research, and forge the agenda. Trends Mol Med. 2001 Apr;7(4):182. PMID: 11286944

Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet. 2001 Mar;68(3):642-52. Free article in PubMed. PMID: 11179012

Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med. 2001 Jan;7(1):13-7. PMID: 11427982

Ringpfeil F, Lebwohl MG, Uitto J. Abstracts: Mutations in the MRP6 gene cause pseudoxanthoma elasticum. J Invest Dermatol. 2000 Aug;115(2):332. Free article at journal website. PMID: 10951257

Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6. Free article in PubMed. PMID: 10811882

Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med. 2000 Mar;78(1):36-46. Free article at Journal Website. PMID: 10759028

Uitto J, Boyd C, Lebwohl M, Moshell A, Rosenbloom J, and Terry SF. International centennial meeting on pseudoxanthoma elasticum: progress in PXE research. J Invest Dermatol. 1998 May;110(5):840-2. Free article at Journal Website. PMID: 9579557

Lebwohl M, Neldner K, Pope FM, De Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol. 1994 Jan;30(1):103-7. Free article. PMID: 8277008