Cristina Has

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi request reprint [The many facets of inherited skin fragility]
    C Has
    Klinik für Dermatologie und Venerologie, Universitatsklinikum Freiburg, Hauptstr 7, 79104, Freiburg, Deutschland
    Hautarzt 65:490-8. 2014
  2. pmc Targeting epidermal lipids for treatment of Mendelian disorders of cornification
    Dimitra Kiritsi
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Orphanet J Rare Dis 9:33. 2014
  3. ncbi request reprint Molecular therapies for epidermolysis bullosa
    C Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    G Ital Dermatol Venereol 148:65-72. 2013
  4. doi request reprint Molecular dermatology comes of age
    Cristina Has
    Department of Molecular Dermatology, University of Freiburg, Freiburg, Germany
    Methods Mol Biol 961:1-16. 2013
  5. doi request reprint Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer
    C Has
    Department of Dermatology, University Medical Centre Freiburg, Freiburg, Germany
    Dermatology 221:309-12. 2010
  6. doi request reprint Molecular genetic assays for inherited epidermolysis bullosa
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Clin Dermatol 29:420-6. 2011
  7. doi request reprint Collagen XVII
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Dermatol Clin 28:61-6. 2010
  8. ncbi request reprint [Kindler syndrome. A new bullous dermatosis]
    C Has
    Universitäts Hautklinik Freiburg, Hauptstrasse 7, 79104 Freiburg
    Hautarzt 60:622-6. 2009
  9. pmc Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Freiburg, Germany
    Am J Pathol 178:975-82. 2011
  10. doi request reprint Induction of phenotype modifying cytokines by FERMT1 mutations
    Anja Heinemann
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    Hum Mutat 32:397-406. 2011

Collaborators

Detail Information

Publications37

  1. ncbi request reprint [The many facets of inherited skin fragility]
    C Has
    Klinik für Dermatologie und Venerologie, Universitatsklinikum Freiburg, Hauptstr 7, 79104, Freiburg, Deutschland
    Hautarzt 65:490-8. 2014
    ..Besides wound care and careful management of the disease complications, new experimental targeted therapies are being developed. New very rare forms of inherited skin fragility have been identified with modern sequencing methods. ..
  2. pmc Targeting epidermal lipids for treatment of Mendelian disorders of cornification
    Dimitra Kiritsi
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Orphanet J Rare Dis 9:33. 2014
    ..The skin manifestations of the CHILD syndrome have been attributed to two major mechanisms: deficiency of cholesterol, probably influencing the proper corneocyte membrane formation, and toxic accumulation of aberrant steroid precursors...
  3. ncbi request reprint Molecular therapies for epidermolysis bullosa
    C Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    G Ital Dermatol Venereol 148:65-72. 2013
    ..Therapeutic efficacy, as well as unexpected outcomes must be carefully monitored...
  4. doi request reprint Molecular dermatology comes of age
    Cristina Has
    Department of Molecular Dermatology, University of Freiburg, Freiburg, Germany
    Methods Mol Biol 961:1-16. 2013
    ..This article highlights several major developments in molecular experimental and clinical dermatology...
  5. doi request reprint Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer
    C Has
    Department of Dermatology, University Medical Centre Freiburg, Freiburg, Germany
    Dermatology 221:309-12. 2010
    ..Taken together, we describe the natural course of KS, the morphological abnormalities occurring in the skin of older KS patients, we discuss the differential diagnosis and the association between KS and squamous cell carcinoma...
  6. doi request reprint Molecular genetic assays for inherited epidermolysis bullosa
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Clin Dermatol 29:420-6. 2011
    ..Mutation analysis indicates the precise cause of the disease, the affected gene, and the inheritance pattern...
  7. doi request reprint Collagen XVII
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Dermatol Clin 28:61-6. 2010
    ..This article examines the genetic and pathological features of collagen XVII...
  8. ncbi request reprint [Kindler syndrome. A new bullous dermatosis]
    C Has
    Universitäts Hautklinik Freiburg, Hauptstrasse 7, 79104 Freiburg
    Hautarzt 60:622-6. 2009
    ..The most important differential diagnoses are epidermolysis bullosa with mottled pigmentation and dystrophic epidermolysis bullosa. Management aims to treat the symptoms and prevent complications...
  9. pmc Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Freiburg, Germany
    Am J Pathol 178:975-82. 2011
    ..This first example of environmental regulation of kindlin expression has implications for phenotype modulation in Kindler syndrome, a skin disorder caused by kindlin-1 deficiency...
  10. doi request reprint Induction of phenotype modifying cytokines by FERMT1 mutations
    Anja Heinemann
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    Hum Mutat 32:397-406. 2011
    ..These data are concordant with a model wherein repeated cycles of epidermal cell stress, cytokine secretion, dermal inflammation, and profibrotic processes underlie mucocutaneous fibrosis in KS...
  11. pmc Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany
    Am J Pathol 175:1442-52. 2009
    ..Loss of these kindlin-1 functions forms the biological basis for the epithelial cell fragility and atrophy in the pathology of KS...
  12. pmc Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
    Dimitra Kiritsi
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Clin Invest 122:1742-6. 2012
    ..Since loss of kindlin-1 severely impairs keratinocyte proliferation, we predict that revertant cells have a selective advantage that allows their clonal expansion and, consequently, the improvement of the skin condition...
  13. doi request reprint Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    J Med Genet 48:450-7. 2011
    ..The objective of this study is comprehensive genotype-phenotype analysis in JEB-other patients with COL17A1 mutations and elucidation of disease mechanisms underlying different skin phenotypes...
  14. doi request reprint Kindler syndrome: extension of FERMT1 mutational spectrum and natural history
    Cristina Has
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 32:1204-12. 2011
    ..Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications...
  15. ncbi request reprint Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes
    Corinna Herz
    Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104 Freiburg, Germany
    J Biol Chem 281:36082-90. 2006
    ..It is involved in organization and anchorage of the actin cytoskeleton to integrin-associated signaling platforms...
  16. pmc Consistency of the proteome in primary human keratinocytes with respect to gender, age, and skin localization
    Adrian Sprenger
    Freiburg Institute for Advanced Studies, School of Life Science LIFENET, University of Freiburg, Albertstr 19, 79104 Freiburg, Germany
    Mol Cell Proteomics 12:2509-21. 2013
    ..We guide through our workflow, point out its advantages compared with other methods and apply it to visualize differences of cell lines compared with primary human keratinocytes. ..
  17. pmc Laminin 332 in junctional epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    Cell Adh Migr 7:135-41. 2013
    ..This article delineates the signs and symptoms of the different forms of JEB, the mutational spectrum, genotype-phenotype correlations as well as perspectives for future molecular therapies...
  18. doi request reprint TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome
    Manuela Pigors
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    J Invest Dermatol 132:2422-9. 2012
    ..Our results give insights into the consequences of TGM5 mutations on terminal epidermal differentiation...
  19. pmc Integrin α3 mutations with kidney, lung, and skin disease
    Cristina Has
    Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany
    N Engl J Med 366:1508-14. 2012
    ..The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis...
  20. doi request reprint Role of kindlin-2 in fibroblast functions: implications for wound healing
    Yinghong He
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Invest Dermatol 131:245-56. 2011
    ..Taken together, the data reveal a physiological role for kindlin-2 in skin fibroblasts under normal steady-state conditions and during tissue regeneration...
  21. doi request reprint Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
    Manuela Pigors
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, Freiburg 79104, Germany
    Hum Mol Genet 20:1811-9. 2011
    ..Adherens junction proteins were localized to keratinocyte plasma membrane, but did not provide proper cell-cell adhesion. This lethal congenital epidermolysis bullosa highlights the fundamental role of plakoglobin in epidermal cohesion...
  22. ncbi request reprint Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
    Johannes S Kern
    Department of Dermatology, University of Freiburg, Hauptstrasse 7, Freiburg 79104, Germany
    J Invest Dermatol 126:1006-12. 2006
    ..In addition, the studies disclosed a de novo mutation in recessive DEB and two new polymorphisms in the COL7A1 gene...
  23. ncbi request reprint Molecular and diagnostic aspects of genetic skin fragility
    Cristina Has
    Department of Dermatology, University of Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    J Dermatol Sci 44:129-44. 2006
    ..Extensive mutation analysis and subsequent identification of new gene defects provide accurate diagnostics, and lead to better understanding of the functions of the respective proteins, with the potential for new therapeutic strategies...
  24. doi request reprint Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations
    Wibke von Bartenwerffer
    Department of Dermatology, University of Cologne, Kerpener Str 62, 50937 Cologne, Germany
    Eur J Dermatol 21:170-2. 2011
    ..3832-2A > G and the glycine substitution p.G1347W. Our data extend the current knowledge on genotype-phenotype correlations in dystrophic epidermolysis bullosa...
  25. ncbi request reprint C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation
    Claus Werner Franzke
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    J Biol Chem 281:30260-8. 2006
    ....
  26. ncbi request reprint Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene
    Cristina Has
    Department of Dermatology, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 126:1776-83. 2006
    ..This finding has implications for optimal KIND1 mutational screening in KS individuals...
  27. ncbi request reprint Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations
    H Schumann
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    Br J Dermatol 159:464-9. 2008
    ..Fewer than 40 patients with autosomal dominant or recessive inheritance, or sporadic DEB-Pr, have been described in the literature...
  28. ncbi request reprint Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa
    Dimitra Kiritsi
    Department of Dermatology and Venereology, University Medical Center, Freiburg, Germany
    J Invest Dermatol 134:2097-104. 2014
    ....
  29. ncbi request reprint RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes
    Yinghong He
    Department of Dermatology, Medical Centre University of Freiburg, Germany
    J Pathol 233:269-80. 2014
    ..Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
  30. ncbi request reprint Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches
    Andreas Volz
    Department of Dermatology, University Medical Center Freiburg, Germany
    J Dtsch Dermatol Ges 5:274-9. 2007
    ..These results will provide a foundation for developing novel therapeutic approaches for the causal treatment of EB...
  31. doi request reprint Comparative quantitation of proteome alterations induced by aging or immortalization in primary human fibroblasts and keratinocytes for clinical applications
    Adrian Sprenger
    Freiburg Institute for Advanced Studies, School of Life Science LIFENET, University of Freiburg, Albertstr 19, 79104 Freiburg, Germany
    Mol Biosyst 6:1579-82. 2010
    ....
  32. doi request reprint Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
    J S Kern
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    Br J Dermatol 161:1089-97. 2009
    ..Recently, the MMP1 promoter single nucleotide polymorphism (SNP) rs1799750, designated as 1G 2G, was shown to be involved in modulation of disease severity in patients with recessive DEB (RDEB), and was proposed as a genetic modifier...
  33. doi request reprint Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa
    Leena Bruckner-Tuderman
    Department of Dermatology, University Medical Center Freiburg, Germany Freiburg Institute for Advanced Studies, School of Life Sciences LIFENET, Freiburg, Germany Electronic address
    Matrix Biol 33:29-34. 2014
    ..The rapid progress in understanding the molecular basis of EB has enabled the development of strategies for biologically valid causal therapies. ..
  34. ncbi request reprint Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome
    Cristina Has
    Department of Dermatology, University Hospital Muenster, Germany
    J Invest Dermatol 118:851-8. 2002
    ..This lack of correlation may be due to differences in X-inactivation between different tissues of the same patient and/or loss of the mutant clone by outgrowth of proficient clones after some time...
  35. doi request reprint Cell-based therapies for epidermolysis bullosa - from bench to bedside
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Dtsch Dermatol Ges 10:803-7. 2012
    ..This overview highlights cell-based approaches that have recently been tested in pilot clinical trials, attesting to the potential of regenerative medicine for blistering skin diseases...
  36. ncbi request reprint Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms
    J S Kern
    Department of Dermatology, University Medical Center, Freiburg, Germany
    J Pathol 213:462-70. 2007
    ..The different clinical intestinal manifestations in Kindler syndrome patients may be explained by partial functional compensation of kindlin-1 deficiency by the intestinal isoform or by the presence of truncated mutant kindlin-1...
  37. ncbi request reprint The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome
    H Traupe
    Department of Dermatology, University of Munster, Von Esmarch Str 56, D 48149 Munster, Germany
    Eur J Dermatol 10:425-8. 2000
    ..As gonadal mosaicism seems to be frequent in this disease, a recurrence risk for further pregnancies has to be considered when dealing with a seemingly sporadic case...