Research Topics
Genomes and Genes | Cristina HasSummaryAffiliation: University Hospital Country: Germany Publications
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Publications
Collagen XVIICristina 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...- Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancerC 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... - [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... - Molecular genetic assays for inherited epidermolysis bullosaCristina 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... - Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modificationYinghong 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... - Induction of phenotype modifying cytokines by FERMT1 mutationsAnja 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... - Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytesCristina 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... - Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosaDimitra 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... - Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytesCorinna 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... - Integrin ?3 mutations with kidney, lung, and skin diseaseCristina 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... - Role of kindlin-2 in fibroblast functions: implications for wound healingYinghong 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... - Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entityManuela 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... - Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutationsWibke 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... - C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulationClaus Werner Franzke
Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
J Biol Chem 281:30260-8. 2006.... - Molecular and diagnostic aspects of genetic skin fragilityCristina 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... - Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutationsH 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... - Comparative quantitation of proteome alterations induced by aging or immortalization in primary human fibroblasts and keratinocytes for clinical applicationsAdrian 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.... - Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approachesAndreas 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... - Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 geneCristina 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... - 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 cohortJ 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... - Kindler syndrome: extension of FERMT1 mutational spectrum and natural historyCristina 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... - Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosaJohannes 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... - Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoformsJ 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... - 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 syndromeH 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...