PubMed

Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.

Chung HJ, Uitto J.

Dermatol Clin. 2010 Jan;28(1):93-105.PMID: 19945621 [PubMed - in process]

Epidermolysis bullosa with pyloric atresia.

Chung HJ, Uitto J.

Dermatol Clin. 2010 Jan;28(1):43-54.PMID: 19945615 [PubMed - in process]

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities.

Mahoney MY, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S.

J Invest Dermatol. 2009 Nov 19. [Epub ahead of print]PMID: 19924139 [PubMed - as supplied by publisher]Related articles

Noninvasive Assessment of UV-induced Skin Damage: Comparison of Optical Measurements to Histology and MMP Expression.

Papazoglou E, Sunkari C, Neidrauer M, Klement JF, Uitto J.

Photochem Photobiol. 2009 Nov 10. [Epub ahead of print]PMID: 19906094 [PubMed - as supplied by publisher]Related articles

Keratinocyte-/Fibroblast-Targeted Rescue of Col7a1-Disrupted Mice and Generation of an Exact Dystrophic Epidermolysis Bullosa Model Using a Human COL7A1 Mutation.

Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H.

Am J Pathol. 2009 Nov 5. [Epub ahead of print]PMID: 19893033 [PubMed - as supplied by publisher]Related articles

Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.

Chung HJ, Steplewski A, Uitto J, Fertala A.

Biochem Biophys Res Commun. 2009 Dec 18;390(3):662-6. Epub 2009 Oct 12.PMID: 19822129 [PubMed - in process]Related articles

The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background-a model for pseudoxanthoma elasticum.

Li Q, Uitto J.

J Mol Med. 2009 Sep 27. [Epub ahead of print]PMID: 19784827 [PubMed - as supplied by publisher]Related articles

Molecular therapies for heritable blistering diseases.

Tamai K, Kaneda Y, Uitto J.

Trends Mol Med. 2009 Jul;15(7):285-92. Epub 2009 Jul 4. Review.PMID: 19581127 [PubMed - indexed for MEDLINE]Related articles

Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.

Uitto J.

Acta Derm Venereol. 2009;89(3):228-35. Review.PMID: 19479117 [PubMed - indexed for MEDLINE]Related articles

Extracellular matrix in cutaneous ageing: the effects of 0.1% copper-zinc malonate-containing cream on elastin biosynthesis.

Mahoney MG, Brennan D, Starcher B, Faryniarz J, Ramirez J, Parr L, Uitto J.

Exp Dermatol. 2009 Mar;18(3):205-11.PMID: 19400831 [PubMed - indexed for MEDLINE]Related articles

Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype.

Uitto J.

Acta Derm Venereol. 2009;89(1):4-5. No abstract available. PMID: 19209409 [PubMed - indexed for MEDLINE]Related articles

Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).

LaRusso J, Li Q, Jiang Q, Uitto J.

J Invest Dermatol. 2009 Jun;129(6):1388-94. Epub 2009 Jan 1.PMID: 19122649 [PubMed - indexed for MEDLINE]Related articles

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.

Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW.

Am J Pathol. 2009 Feb;174(2):534-40. Epub 2008 Dec 30.PMID: 19116367 [PubMed - indexed for MEDLINE]Related articlesFree article

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.

Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J.

Exp Dermatol. 2009 Jan;18(1):1-11. Epub 2008 Oct 22. Review.PMID: 19054062 [PubMed - indexed for MEDLINE]Related articles

Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.

Remington J, Wang X, Hou Y, Zhou H, Burnett J, Muirhead T, Uitto J, Keene DR, Woodley DT, Chen M.

Mol Ther. 2009 Jan;17(1):26-33. Epub 2008 Nov 18.PMID: 19018253 [PubMed - indexed for MEDLINE]Related articles

GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.

Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E.

Biochim Biophys Acta. 2009 Jan;1792(1):61-7. Epub 2008 Oct 11.PMID: 18976705 [PubMed - indexed for MEDLINE]Related articles

Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells.

Tolar J, Ishida-Yamamoto A, Riddle M, McElmurry RT, Osborn M, Xia L, Lund T, Slattery C, Uitto J, Christiano AM, Wagner JE, Blazar BR.

Blood. 2009 Jan 29;113(5):1167-74. Epub 2008 Oct 27.PMID: 18955559 [PubMed - indexed for MEDLINE]Related articles

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J.

J Invest Dermatol. 2009 Mar;129(3):553-63. Epub 2008 Sep 18.PMID: 18800149 [PubMed - indexed for MEDLINE]Related articles

Effect of size at the nanoscale and bilayer rigidity on skin diffusion of liposomes.

Babu S, Fan C, Stepanskiy L, Uitto J, Papazoglou E.

J Biomed Mater Res A. 2009 Oct;91(1):140-8.PMID: 18770522 [PubMed - indexed for MEDLINE]Related articles

Epidermolysis bullosa: prospects for cell-based therapies.

Uitto J.

J Invest Dermatol. 2008 Sep;128(9):2140-2.PMID: 18695685 [PubMed - indexed for MEDLINE]Related articlesFree article

Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance.

Chino T, Tamai K, Yamazaki T, Otsuru S, Kikuchi Y, Nimura K, Endo M, Nagai M, Uitto J, Kitajima Y, Kaneda Y.

Am J Pathol. 2008 Sep;173(3):803-14. Epub 2008 Aug 7.PMID: 18688022 [PubMed - indexed for MEDLINE]Related articlesFree article

Pseudoxanthoma elasticum is a metabolic disease.

Jiang Q, Endo M, Dibra F, Wang K, Uitto J.

J Invest Dermatol. 2009 Feb;129(2):348-54. Epub 2008 Aug 14.PMID: 18685618 [PubMed - indexed for MEDLINE]Related articles

Collagen fibril formation. A new target to limit fibrosis.

Chung HJ, Steplewski A, Chung KY, Uitto J, Fertala A.

J Biol Chem. 2008 Sep 19;283(38):25879-86. Epub 2008 Jul 23.PMID: 18650436 [PubMed - indexed for MEDLINE]Related articlesFree article

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.

Weinel S, Lucky AW, Uitto J, Pfendner EG, Choo D.

Pediatr Dermatol. 2008 Mar-Apr;25(2):210-4.PMID: 18429782 [PubMed - indexed for MEDLINE]Related articles

The role of elastin and collagen in cutaneous aging: intrinsic aging versus photoexposure.

Uitto J.

J Drugs Dermatol. 2008 Feb;7(2 Suppl):s12-6. Review.PMID: 18404866 [PubMed - indexed for MEDLINE]Related articles

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G.

J Am Acad Dermatol. 2008 Jun;58(6):931-50. Epub 2008 Apr 18.PMID: 18374450 [PubMed - indexed for MEDLINE]Related articles

Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes.

Aizu T, Tamai K, Nakano H, Rokunohe D, Toyomaki Y, Uitto J, Sawamura D.

J Dermatol Sci. 2008 Jul;51(1):45-51. Epub 2008 Mar 18.PMID: 18353617 [PubMed - indexed for MEDLINE]Related articles

Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts.

Katsuta Y, Ogura Y, Iriyama S, Goetinck PF, Klement JF, Uitto J, Amano S.

Exp Dermatol. 2008 Oct;17(10):837-42. Epub 2008 Mar 13.PMID: 18341572 [PubMed - indexed for MEDLINE]Related articles

Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.

Sevilla LM, Nachat R, Groot KR, Klement JF, Uitto J, Djian P, Määttä A, Watt FM.

J Cell Biol. 2007 Dec 31;179(7):1599-612.PMID: 18166659 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A.

Hum Mutat. 2008 Jan;29(1):205.PMID: 18157818 [PubMed - indexed for MEDLINE]Related articles

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E.

J Invest Dermatol. 2008 Jun;128(6):1423-9. Epub 2007 Dec 20.PMID: 18094730 [PubMed - indexed for MEDLINE]Related articlesFree article

Comparison of 1D and 2D NMR spectroscopy for metabolic profiling.

Van QN, Issaq HJ, Jiang Q, Li Q, Muschik GM, Waybright TJ, Lou H, Dean M, Uitto J, Veenstra TD.

J Proteome Res. 2008 Feb;7(2):630-9.PMID: 18081246 [PubMed - indexed for MEDLINE]Related articles

Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.

Igoucheva O, Kelly A, Uitto J, Alexeev V.

J Invest Dermatol. 2008 Jun;128(6):1476-86. Epub 2007 Dec 13.PMID: 18079746 [PubMed - indexed for MEDLINE]Related articlesFree article

The filaggrin story: novel insights into skin-barrier function and disease.

McGrath JA, Uitto J.

Trends Mol Med. 2008 Jan;14(1):20-7. Epub 2007 Dec 18. Review.PMID: 18068483 [PubMed - indexed for MEDLINE]Related articles

Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).

Li Q, Jiang Q, Uitto J.

J Invest Dermatol. 2008 May;128(5):1160-4. Epub 2007 Nov 29.PMID: 18049453 [PubMed - indexed for MEDLINE]Related articlesFree article

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E.

J Invest Dermatol. 2008 Jun;128(6):1517-24. Epub 2007 Nov 29.PMID: 18049449 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes.

Nakajima K, Tamai K, Yamazaki T, Toyomaki Y, Nakano H, Uitto J, Sawamura D.

J Invest Dermatol. 2008 May;128(5):1336-9. Epub 2007 Nov 8. No abstract available. PMID: 17989732 [PubMed - indexed for MEDLINE]Related articlesFree article

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study.

LaRusso J, Jiang Q, Li Q, Uitto J.

Exp Dermatol. 2008 Mar;17(3):203-7. Epub 2007 Nov 2.PMID: 17979973 [PubMed - indexed for MEDLINE]Related articles

Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).

Li Q, Jiang Q, Schurgers LJ, Uitto J.

Biochem Biophys Res Commun. 2007 Dec 14;364(2):208-13. Epub 2007 Oct 4.PMID: 17942075 [PubMed - indexed for MEDLINE]Related articlesFree article

Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin.

Kawachi M, Tamai K, Saga K, Yamazaki T, Fujita H, Shimbo T, Kikuchi Y, Nimura K, Nishifuji K, Amagai M, Uitto J, Kaneda Y.

Hum Gene Ther. 2007 Oct;18(10):881-94.PMID: 17892442 [PubMed - indexed for MEDLINE]Related articles

Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis.

Rodeck U, Uitto J.

J Invest Dermatol. 2007 Oct;127(10):2295-6.PMID: 17853916 [PubMed - indexed for MEDLINE]Related articlesFree article

Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process.

Li Q, Jiang Q, Larusso J, Klement JF, Sartorelli AC, Belinsky MG, Kruh GD, Uitto J.

Exp Dermatol. 2007 Oct;16(10):853-9.PMID: 17845218 [PubMed - indexed for MEDLINE]Related articles

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

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.

J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6.PMID: 17617515 [PubMed - indexed for MEDLINE]Related articles

Diseases of epidermal keratins and their linker proteins.

Uitto J, Richard G, McGrath JA.

Exp Cell Res. 2007 Jun 10;313(10):1995-2009. Epub 2007 Apr 24. Review.PMID: 17531221 [PubMed - indexed for MEDLINE]Related articlesFree article

Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.

Rodeck U, Fertala A, Uitto J.

Exp Dermatol. 2007 Jun;16(6):465-7. Review.PMID: 17518985 [PubMed - indexed for MEDLINE]Related articles

Ex vivo gene therapy cures a blistering skin disease.

Featherstone C, Uitto J.

Trends Mol Med. 2007 Jun;13(6):219-22. Epub 2007 Apr 9.PMID: 17416553 [PubMed - indexed for MEDLINE]Related articles

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.

Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF.

J Invest Dermatol. 2007 Jul;127(7):1772-5. Epub 2007 Mar 8. No abstract available. Erratum in: J Invest Dermatol. 2007 Nov;127(11):2678. PMID: 17344927 [PubMed - indexed for MEDLINE]Related articlesFree article

Pseudoxanthoma elasticum-like phenotypes: more diseases than one.

Uitto J, Jiang Q.

J Invest Dermatol. 2007 Mar;127(3):507-10.PMID: 17299431 [PubMed - indexed for MEDLINE]Related articlesFree article

Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes.

Brennan D, Hu Y, Joubeh S, Choi YW, Whitaker-Menezes D, O'Brien T, Uitto J, Rodeck U, Mahoney MG.

J Cell Sci. 2007 Mar 1;120(Pt 5):758-71. Epub 2007 Feb 6.PMID: 17284515 [PubMed - indexed for MEDLINE]Related articlesFree article

Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.

Jiang Q, Li Q, Uitto J.

J Invest Dermatol. 2007 Jun;127(6):1392-402. Epub 2007 Feb 1.PMID: 17273159 [PubMed - indexed for MEDLINE]Related articlesFree article