Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiationA deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisGenetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanismsEpidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesMutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumNaegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization DisordersEctopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcificationMolecular therapeutics for heritable skin diseasesMutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosaDesmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgarisUnique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentinThe classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EBAdvocacy groups as research organizations: the PXE International exampleSpontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 geneRevertant mosaicism in skin: natural gene therapyThe abcc6a gene expression is required for normal zebrafish developmentZebrafish: a model system to study heritable skin diseases.Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosisClinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticumClinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypesA single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant miceInjection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum.Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy.Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).Effects of the Nd:YAG 1320-nm laser on skin rejuvenation: clinical and histological correlations.Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.Altered MCM protein levels and autophagic flux in aged and systemic sclerosis dermal fibroblastsTargeted ablation of the abcc6 gene results in ectopic mineralization of connective tissuesGenetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.Multiple minimally invasive Erbium: Yttrium Aluminum Garnet laser mini-peels for skin rejuvenation: an objective assessment.Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticumKeratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice.Keloids: The paradigm of skin fibrosis - Pathomechanisms and treatment.Zebrafish as a model system to study heritable skin diseases.
P50
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0000 0003 8589 907X
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UittoJouni
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1943-09-15T00:00:00Z
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mub2014844659
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lccn-n85241227