Jouni Uitto

Summary

Affiliation: Thomas Jefferson University
Country: USA

Publications

  1. ncbi request reprint Progress in epidermolysis bullosa: from eponyms to molecular genetic classification
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Clin Dermatol 23:33-40. 2005
  2. pmc Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Pathol 182:1139-50. 2013
  3. pmc Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    J Invest Dermatol 130:661-70. 2010
  4. pmc Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-))
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 130:1288-96. 2010
  5. pmc Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Am J Pathol 176:1855-62. 2010
  6. pmc Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes
    Roslyn Varki
    DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Med Genet 44:181-92. 2007
  7. ncbi request reprint Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 16:853-9. 2007
  8. pmc Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 2:398-404. 2009
  9. pmc Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) )
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 21:694-9. 2012
  10. pmc Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Exp Dermatol 17:203-7. 2008

Detail Information

Publications112 found, 100 shown here

  1. ncbi request reprint Progress in epidermolysis bullosa: from eponyms to molecular genetic classification
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Clin Dermatol 23:33-40. 2005
    ..This information has formed a basis for refined molecular classification with prognostic implications, improved genetic counseling, and prenatal and preimplantation genetic diagnosis...
  2. pmc Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Pathol 182:1139-50. 2013
    ..6% reported past or present use of warfarin. Based on the prevalence of PXE (approximately 1:50,000), thousands of patients with PXE worldwide may be at risk for worsening of PXE as a result of warfarin therapy...
  3. pmc Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    J Invest Dermatol 130:661-70. 2010
    ..Understanding of the pathomechanistic details of PXE provides a basis for the development of targeted molecular therapies for this currently intractable disease...
  4. pmc Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-))
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 130:1288-96. 2010
    ....
  5. pmc Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Am J Pathol 176:1855-62. 2010
    ..These observations suggest that reintroduction of the critical antimineralization factors into circulation could provide a potential treatment for this, currently intractable, disease...
  6. pmc Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes
    Roslyn Varki
    DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Med Genet 44:181-92. 2007
    ..DEB is derived from mutations in the type VII collagen gene (COL7A1), encoding a large collagenous protein that is the predominant, if not exclusive, component of the anchoring fibrils at the dermal-epidermal junction...
  7. ncbi request reprint Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 16:853-9. 2007
    ....
  8. pmc Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 2:398-404. 2009
    ..These results suggest that magnesium carbonate may offer a potential treatment modality for PXE, a currently intractable disease, as well as for other conditions characterized by ectopic mineralization of connective tissues...
  9. pmc Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) )
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 21:694-9. 2012
    ..The control of mineralization by dietary magnesium may have broader implications in general population in the context of vascular mineralization...
  10. pmc Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Exp Dermatol 17:203-7. 2008
    ..The role of dietary minerals, and phosphorus in particular, as well as that of phosphate binders, in ectopic mineralization of PXE, merits further investigation...
  11. pmc Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Dis Model Mech 4:777-85. 2011
    ....
  12. ncbi request reprint Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 127:1392-402. 2007
    ..These data suggest that the deposition of the bone-associated proteins spatially coincides with mineralization and actively regulates this process locally and systemically...
  13. pmc Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms
    Qiaoli Li
    Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 18:1-11. 2009
    ..Further progress in understanding the detailed pathomechanisms of PXE should provide novel strategies to counteract, and perhaps cure, this complex heritable disorder at the genome-environment interface...
  14. pmc Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues
    John F Klement
    Department of Dermatology, Jefferson Medical College, 233 S 10th Street, Suite 322 BLSB, Philadelphia, PA 19107, USA
    Mol Cell Biol 25:8299-310. 2005
    ..These data demonstrate aberrant mineralization of soft tissues in PXE-affected organs, and, consequently, these mice recapitulate features of this complex disease...
  15. pmc Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-)
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Biochem Biophys Res Commun 364:208-13. 2007
    ..These results suggest that MGP in Abcc6-/- mice is largely in inactive form and is unable to prevent the unwanted mineralization of connective tissues in PXE...
  16. ncbi request reprint Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions
    Norihiro Fujimoto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 15:300-7. 2006
    ..This peptide segment also inhibited MMP9 activity in a gelatin-based ELISA assay. We propose that ECM1-mediated reduction in MMP9 proteolytic activity may have relevance to pathogenesis of LP...
  17. pmc Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-))
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 129:1388-94. 2009
    ..The inhibitory capacity of magnesium was confirmed in a cell-based mineralization assay system in vitro. Collectively, our observations suggest that assessment of dietary magnesium in patients with PXE may be warranted...
  18. doi request reprint Gene expression signatures of mouse bone marrow-derived mesenchymal stem cells in the cutaneous environment and therapeutic implications for blistering skin disorder
    Vitali Alexeev
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, 233 South 10th Street, Philadelphia, PA 19107, USA
    Cytotherapy 13:30-45. 2011
    ..However, it is not known whether MSC can commit to cutaneous lineages, produce structural proteins essential for the skin integrity or be used for hereditary skin disorders...
  19. pmc A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    Am J Pathol 181:1190-6. 2012
    ..Collectively, our studies found that the KK/HlJ mouse strain is characterized by ectopic mineralization due to a mutation in the Abcc6 gene and therefore provides a novel model system to study pseudoxanthoma elasticum...
  20. pmc Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum
    N Beril Kavukcuoglu
    Department of Bioengineering, Temple University, Philadelphia, PA 19122, USA
    Matrix Biol 31:246-52. 2012
    ..These results provide critical information of the mechanisms of mineralization in PXE, with potential pharmacologic implications...
  21. pmc The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA
    J Mol Med (Berl) 88:173-81. 2010
    ..These findings suggest a role for both the GGCX gene and the genetic background as well as dietary factors in modulating the phenotypic severity of PXE caused by loss-of-function mutations in ABCC6...
  22. ncbi request reprint Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2
    Norihiro Fujimoto
    Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Biochem Biophys Res Commun 333:1327-33. 2005
    ....
  23. pmc Pseudoxanthoma elasticum is a metabolic disease
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 129:348-54. 2009
    ....
  24. ncbi request reprint Tissue-specific expression of the ABCC6 gene
    Yasushi Matsuzaki
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 125:900-5. 2005
    ..The results have implications for mutation detection strategies in PXE by RT-PCR, and they further support the notion that PXE is a primary metabolic disorder...
  25. pmc Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 129:553-63. 2009
    ..These findings expand the molecular basis of PXE-like phenotypes, and suggest a role for multiple genetic factors in pathologic tissue mineralization in general...
  26. doi request reprint Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*
    Jouni Uitto
    Department of Dermatology, and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, USA
    Acta Derm Venereol 89:228-35. 2009
    ..Collectively, advances in the molecular genetics of heritable skin diseases clearly emphasize the value of basic research for improved diagnostics and patient care for genetic skin diseases...
  27. ncbi request reprint Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 126:325-35. 2006
    ..These findings may have implications for phenotypic expression of heritable and acquired diseases involving abnormality in the ABCC6 gene...
  28. pmc Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-)
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 128:1160-4. 2008
    ..These results suggest that the Abcc6(-/-) mice suffer from chronic oxidative stress but this does not contribute to connective tissue mineralization, the hallmark of PXE...
  29. doi request reprint Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities
    My G Mahoney
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 130:968-78. 2010
    ..To conclude, we describe a combination of DP mutation phenotypes affecting the skin, heart, hair, and teeth. This patient case emphasizes the importance of heart examination of patients with desmosomal genodermatoses...
  30. pmc Collagen fibril formation. A new target to limit fibrosis
    Hye Jin Chung
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 283:25879-86. 2008
    ..We conclude that inhibiting extracellular steps of the fibrotic process provides a novel approach to limit fibrosis in a number of tissues and organs...
  31. pmc Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Pathol 174:534-40. 2009
    ..Our findings also confirm GGCX as the second gene locus causing PXE...
  32. ncbi request reprint Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes
    Donna Brennan
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, 233 South 10th Street, Philadelphia, PA 19107, USA
    J Cell Sci 120:758-71. 2007
    ..In summary, overexpression of Dsg2 in epidermal keratinocytes deregulates multiple signaling pathways associated with increased growth rate, anchorage-independent cell survival, and the development of skin tumors in vivo...
  33. pmc Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA
    Cell Cycle 10:701-7. 2011
    ..Collectively, our data suggest that vitamin K deficiency in the peripheral tissues is not a simple explanation for development of mineral deposits in PXE...
  34. pmc Zebrafish: a model system to study heritable skin diseases
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 131:565-71. 2011
    ..These observations suggest that zebrafish provide a useful model system to study the molecular aspects of skin development, as well as the pathogenesis and treatment of select heritable skin diseases...
  35. pmc Diseases of epidermal keratins and their linker proteins
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Cell Res 313:1995-2009. 2007
    ..Finally, precise knowledge of the mutations is a prerequisite for development of gene therapy approaches to counteract, and potentially cure, these often devastating and currently intractable diseases...
  36. ncbi request reprint Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils
    Raymond Brittingham
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 280:191-8. 2005
    ....
  37. ncbi request reprint Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa
    Xianmin Meng
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 121:720-31. 2003
    ..In summary, Lamc2-/- mouse recapitulates human JEB and provides novel insight into the role of laminin 5 in keratinocyte biology...
  38. ncbi request reprint Pseudoxanthoma elasticum-like phenotypes: more diseases than one
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 127:507-10. 2007
    ..This report expands the clinical spectrum of PXE-like conditions and also provides potential insights into the ectopic mineralization process...
  39. ncbi request reprint High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV
    Raymond Brittingham
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Biochem Biophys Res Commun 343:692-9. 2006
    ....
  40. doi request reprint Extracellular matrix in cutaneous ageing: the effects of 0.1% copper-zinc malonate-containing cream on elastin biosynthesis
    My G Mahoney
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 18:205-11. 2009
    ..1% copper-zinc malonate-containing cream has the propensity to increase elastin synthesis in human skin in vivo, and that regeneration of elastic fibres may contribute to wrinkle effacement in female patients with photoaged facial skin...
  41. ncbi request reprint Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis
    Ellen G Pfendner
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 125:239-43. 2005
    ..These findings have implications for genetic counseling and prenatal diagnosis for EBS...
  42. doi request reprint Zebrafish as a model system to study heritable skin diseases
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA, USA
    Methods Mol Biol 961:411-24. 2013
    ..Zebrafish can provide a useful model system to study heritable skin diseases...
  43. pmc Analysis of chemotactic molecules in bone marrow-derived mesenchymal stem cells and the skin: Ccl27-Ccr10 axis as a basis for targeting to cutaneous tissues
    Vitali Alexeev
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Cytotherapy 15:171-184.e1. 2013
    ..However, the primary challenge of the stem cell-based approach is associated with the inefficient homing of systemically infused stem cells to the skin...
  44. pmc Administration of bone marrow derived mesenchymal stem cells into the liver: potential to rescue pseudoxanthoma elasticum in a mouse model (Abcc6-/-)
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, 233 S 10th Street, Philadelphia, PA 19107, USA
    J Biomed Biotechnol 2012:818937. 2012
    ..These data suggest that purified MSCs have the capability of differentiating into hepatic lineages relevant to PXE pathogenesis and may contribute to partial correction of the PXE phenotype...
  45. pmc The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 22:88-92. 2013
    ....
  46. pmc Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
    Exp Dermatol 21:554-6. 2012
    ..Collectively, the results suggest that mouse Samd9l is not a functional paralogue of human SAMD9...
  47. pmc Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, USA
    J Dtsch Dermatol Ges 9:586-93. 2011
    ..These and related observations suggest that changes in the diet might counteract the progression of PXE and improve the quality of life of patients with this, currently intractable, disease...
  48. ncbi request reprint Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis
    Ulrich Rodeck
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 127:2295-6. 2007
    ..This view is challenged here by the observation that SCCs do develop in RDEB patients lacking expression of collagen VII altogether. The aggressive behavior of RDEB-associated SCCs remains unexplained...
  49. pmc Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa
    Hye Jin Chung
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, USA
    Dermatol Clin 28:93-105. 2010
    ....
  50. pmc Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro
    Olga Igoucheva
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 128:1476-86. 2008
    ....
  51. pmc The abcc6a gene expression is required for normal zebrafish development
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 130:2561-8. 2010
    ..These results suggest that abcc6a is an essential gene for normal zebrafish development and provide insight into the function of ABCC6, the gene mutated in PXE...
  52. pmc The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 131:1428-34. 2011
    ..These findings assist in understanding the regulation of Samd9L in the context of its paralogous gene, SAMD9, which harbors mutations in NFTC...
  53. ncbi request reprint Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity
    Franziska Ringpfeil
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 126:782-6. 2006
    ..Missense mutations were frequently detected in the latter cases. In conclusion, PXE is inherited in an autosomal recessive manner and presence of disease in two generations is due to pseudodominance...
  54. ncbi request reprint Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa
    Ulrich Rodeck
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 16:465-7. 2007
    ..This commentary focuses on potential molecular mechanisms by which expression of the NC1 fragment may augment anchorage-independent growth and survival of malignant keratinocytes...
  55. ncbi request reprint Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms
    Donna Brennan
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA
    Differentiation 72:434-49. 2004
    ..These results suggest that the developmental complexity of mouse tissues, including skin and hair, may play a significant role in the evolutionary driving force to maintain multiple Dsg1 genes in mouse...
  56. ncbi request reprint Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Investig Dermatol Symp Proc 7:6-16. 2002
    ..This overview presented in the 50th Annual Symposium on the biology of the skin, highlights the progress made in the molecular genetics of heritable skin diseases over the past decade...
  57. pmc Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker
    Erine A Kupetsky-Rincon
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 5:259-64. 2012
    ..In that context, magnesium oxide significantly reduced CIMT in PXE mice, and may be useful for disease prevention in PXE patients...
  58. pmc Novel molecular therapies for heritable skin disorders
    Jouni Uitto
    Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 132:820-8. 2012
    ....
  59. ncbi request reprint Pseudoxanthoma elasticum: a metabolic disease?
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 126:1440-1. 2006
    ..Le Saux et al. have now provided partial support for the notion that PXE is primarily a metabolic disorder...
  60. pmc Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII
    Hye Jin Chung
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Biochem Biophys Res Commun 390:662-6. 2009
    ..Our study provides a basis for employing fluorescent proteins as tags for complex structural proteins of extracellular matrix...
  61. doi request reprint Noninvasive assessment of UV-induced skin damage: comparison of optical measurements to histology and MMP expression
    Elisabeth Papazoglou
    School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, PA, USA
    Photochem Photobiol 86:138-45. 2010
    ..Increased skin fluorescence is observed with increasing UV exposure. The levels of MMP-13 increase as the cumulative UV dose increases but their increase does not correspond to noninvasively measured changes...
  62. ncbi request reprint Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
    Ellen Pfendner
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 124:111-5. 2005
    ..Our findings provide evidence for additional molecular heterogeneity in EB, and emphasize the importance of screening EB-PA patients not only for alpha6beta4 integrin but also for plectin deficiency...
  63. doi request reprint Integration of investigative dermatology into the global biomedical research enterprise: past, present, and future
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 132:1029-32. 2012
    ....
  64. doi request reprint Progress in epidermolysis bullosa research: toward treatment and cure
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 130:1778-84. 2010
    ..This progress has now formed the basis for development of novel molecular therapies for this disease...
  65. pmc Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 3:295-8. 2010
    ..This will facilitate the identification of individuals at risk, improving their care to prevent ophthalmological and vascular disease...
  66. ncbi request reprint Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression
    Michael Naso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 121:1469-78. 2003
    ..Collectively, these findings attest to the complex regulation of Col7a1 transcription in epidermal keratinocytes...
  67. doi request reprint Epidermolysis bullosa: prospects for cell-based therapies
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 128:2140-2. 2008
    ..In this issue, Wong et al. (2008) demonstrate the feasibility of direct intradermal injection of allogeneic fibroblasts to the lesional skin of patients with recessive dystrophic EB, with improvement in skin fragility...
  68. pmc Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development
    Sirpa Aho
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Mol Cell Biol 24:6410-8. 2004
    ..Consequently, the primary role of periplakin may not relate to the physiology of the cornified cell envelope in epidermal keratinocytes but may reside in the challenges, which normal laboratory mice do not encounter...
  69. ncbi request reprint Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk
    Ellen G Pfendner
    Department of Dermatology, Jefferson Medical College and The Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia 19107, USA
    Prenat Diagn 23:447-56. 2003
    ..Overall, the availability, relative ease, and over 98% success rate make molecular DNA-based prenatal diagnosis a viable option for EB families at risk...
  70. ncbi request reprint Progress in epidermolysis bullosa: genetic classification and clinical implications
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Am J Med Genet C Semin Med Genet 131:61-74. 2004
    ....
  71. ncbi request reprint Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date
    Daniel Shurman
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA, and Department of Clinical Genetics, Helsinki University Central Hospital, Finland
    Eur J Dermatol 16:132-5. 2006
    ..In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype...
  72. ncbi request reprint IL-6 signaling pathway in keloids: a target for pharmacologic intervention?
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 127:6-8. 2007
    ..These observations imply the feasibility of a pharmacologic platform, based on the targeting of the IL-6 signaling pathway, in keloids...
  73. ncbi request reprint Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin
    Shideh Kazerounian
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Exp Dermatol 11:428-38. 2002
    ....
  74. ncbi request reprint The role of elastin and collagen in cutaneous aging: intrinsic aging versus photoexposure
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA, USA
    J Drugs Dermatol 7:s12-6. 2008
    ..This provides a mechanism for enhanced elastin biosynthesis, which contributes to the clinical and morphologic changes observed in photoaged skin...
  75. ncbi request reprint The gene family of ABC transporters--novel mutations, new phenotypes
    Jouni Uitto
    Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Trends Mol Med 11:341-3. 2005
    ..These findings have a major impact on the molecular genetics of these devastating disorders in terms of DNA-based prenatal testing and pre-implantation genetic diagnosis...
  76. pmc Epidermolysis bullosa with pyloric atresia
    Hye Jin Chung
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, USA
    Dermatol Clin 28:43-54. 2010
    ..This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the alpha(6)beta(4) integrin and plectin genes that cause EB-PA, and the clinical implications of molecular genetics on EB-PA...
  77. ncbi request reprint Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 120:601-9. 2003
    ..In conclusion, our results demonstrate genetic heterogeneity in erythrokeratodermia variabilis, and emphasize that intercellular communication mediated by both Cx31 and Cx30.3 is crucial for epidermal differentiation...
  78. pmc Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Hum Genet 70:1341-8. 2002
    ....
  79. pmc Expression of the Abca-subfamily of genes in Abcc6-/- mice--upregulation of Abca4
    Qiaoli Li
    Exp Dermatol 20:452-4. 2011
    ..In the same mice, Abca4 was not upregulated in the eyes or the kidney, suggesting that the upregulation of Abca4 in the liver is a tissue-specific compensatory consequence of the 'knock-out' of Abcc6...
  80. ncbi request reprint Ehlers-Danlos syndrome-molecular genetics beyond the collagens
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 122:xii-xiii. 2004
  81. ncbi request reprint Probing the fetal genome: progress in non-invasive prenatal diagnosis
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Trends Mol Med 9:339-43. 2003
    ..Recently, progress has been made towards the development of novel strategies that are expected to provide non-invasive means for early prenatal diagnosis in pregnancy...
  82. ncbi request reprint Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes
    Aoi Nakano
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, 233 S 10th Street, Suite 450 BLSB, Philadelphia, Pennsylvania, USA
    Hum Genet 110:41-51. 2002
    ..Collectively, these findings, together with the global laminin 5 mutation database, contribute to our understanding of the genotype/phenotype correlations explaining the Herlitz vs non-Herlitz phenotypes...
  83. ncbi request reprint Progress in heritable skin diseases: molecular bases and clinical implications
    Leena Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, 233 South 10th Street, Philadelphia, PA 19107, USA
    J Am Acad Dermatol 47:91-104. 2002
  84. pmc Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene
    Dessislava Markova
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Hum Genet 72:998-1004. 2003
    ..The results demonstrate that a heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin gene mutations are not the exclusive cause of the disease...
  85. ncbi request reprint Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene
    Leena Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    J Invest Dermatol 119:1237-43. 2002
    ..Collectively, these data showed that the perturbation of desmoglein 3 found in the Dsg3bal-Pas mice resulted in disadhesion of keratinocytes manifested with blistering phenotype...
  86. ncbi request reprint Animal models of epidermolysis bullosa--targets for gene therapy
    Qiu Jie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
    J Invest Dermatol 124:xi-xiii. 2005
  87. ncbi request reprint Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families
    Aoi Nakano
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
    J Am Acad Dermatol 46:510-6. 2002
    ..This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored...
  88. ncbi request reprint Interspecies conservation and differential expression of mouse desmoglein gene family
    My G Mahoney
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 11:115-25. 2002
    ..In summary, while desmogleins share high homology at both the gene and protein level, their expression is spatially and temporally regulated, potentially contributing to their significant role in cell-cell adhesion during development...
  89. ncbi request reprint Procollagen VII self-assembly depends on site-specific interactions and is promoted by cleavage of the NC2 domain with procollagen C-proteinase
    Morgana Colombo
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Biochemistry 42:11434-42. 2003
    ....
  90. ncbi request reprint Breaking the connection: caspase 6 disconnects intermediate filament-binding domain of periplakin from its actin-binding N-terminal region
    Andrey E Kalinin
    Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
    J Invest Dermatol 124:46-55. 2005
    ..We show that specific cleavage products co-exist with the full-length periplakin in cells, suggesting physiological consequences due to their altered binding specificities...
  91. ncbi request reprint Interferon-gamma down-regulates expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1) in epidermal keratinocytes via novel chimeric sequences of ISRE and GAS
    Takahide Kaneko
    Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan
    Exp Dermatol 15:308-14. 2006
    ..Our findings provide novel insight into the mechanism of IFNgamma regulation in keratinocyte differentiation and proliferation...
  92. pmc Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
    Ellen G Pfendner
    GeneDx Inc, 207 Perry Parkway, Gaithersburg, Maryland 20877, USA
    J Med Genet 44:621-8. 2007
    ..It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6)...
  93. ncbi request reprint Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy
    Yoshie Takahashi
    Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka 830 0011, Japan
    J Dermatol Sci 37:87-93. 2005
    ..Epidermolysis bullosa simplex associated with muscular dystrophy is caused by plectin deficiency...
  94. ncbi request reprint Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris
    Ana Kljuic
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Cell 113:249-60. 2003
    ..We provide evidence that desmoglein 4 is a key mediator of keratinocyte cell adhesion in the hair follicle, where it coordinates the transition from proliferation to differentiation...
  95. pmc A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
    Am J Hum Genet 79:759-64. 2006
    ..Our data suggest that SAMD9 is involved in the regulation of extraosseous calcification, a process of considerable importance in a wide range of diseases as common as atherosclerosis and autoimmune disorders...
  96. ncbi request reprint Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy
    Rolf Schroder
    Department of Neurology, University of Bonn, Germany
    J Neuropathol Exp Neurol 61:520-30. 2002
    ..Beyond EBS-MD, our data may contribute to the understanding of other myopathies characterized by sarcoplasmic IF accumulations such as desminopathies or alpha-B-crystallinopathies...
  97. ncbi request reprint Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin
    Masako Kawachi
    Division of Gene Therapy Science, Graduate School of Medicine, Osaka University, Suita, Osaka 565 0871, Japan
    Hum Gene Ther 18:881-94. 2007
    ..Thus, a novel tissue-targeting HVJ-E could be used to successfully target epidermal keratinocytes both in vitro and in vivo...
  98. ncbi request reprint Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
    Ulrike Schara
    Department of Paediatrics and Paediatric Neurology, Ruhr University Bochum, Alexandrinenstrasse 5, 44791 Bochum, Germany
    Eur J Pediatr 163:218-22. 2004
    ..Mutation analysis revealed a novel homozygous single guanine insertion mutation (5588insG/5588insG) residing in the N-terminal part of exon 31 of the plectin gene...
  99. pmc Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein
    Ilana Chefetz
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    J Invest Dermatol 128:1423-9. 2008
    ..These data link NFTC and SAMD9 to the TNF-alpha signaling pathway, suggesting a role for this system in the regulation of extra-osseous calcification...
  100. pmc Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance
    Takenao Chino
    Division of Gene Therapy Science, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Am J Pathol 173:803-14. 2008
    ..Thus, gene therapy using E-BMT into the fetal circulation may offer a potential treatment option to ameliorate genetic skin diseases that are characterized by fibroblast dysfunction through the introduction of immune-tolerated BMDFs...
  101. ncbi request reprint Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 120:623-6. 2003
    ..Our results, together with previous observations, establish the existence of a subgroup of keratin disorders due to frameshift mutations altering the keratin tail domains that are characterized by phenotypic heterogeneity...