Thomas Jefferson University

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Uitto, Jouni
One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Phenotype
Academic Article The abcc6a gene expression is required for normal zebrafish development.
Academic Article Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes.
Academic Article Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?
Academic Article In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Academic Article Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
Academic Article Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Academic Article Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Academic Article Progress in heritable skin diseases: molecular bases and clinical implications.
Academic Article Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene.
Academic Article Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Academic Article Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Academic Article Progress in epidermolysis bullosa: genetic classification and clinical implications.
Academic Article The gene family of ABC transporters--novel mutations, new phenotypes.
Academic Article 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.
Academic Article The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics.
Academic Article Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Academic Article Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes.
Academic Article Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
Academic Article Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Academic Article Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
Academic Article Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Academic Article Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.
Academic Article Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
Academic Article Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype.
Academic Article The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
Academic Article Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Academic Article Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
Academic Article Clinical phenotypes and ABCC6 gene mutations in brazilian families with pseudoxanthoma elasticum.
Academic Article Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes.
Academic Article Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
Academic Article Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice.
Academic Article Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with ?-Secretase Spectrum of Autoinflammatory Skin Phenotypes.
Academic Article Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Academic Article Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Academic Article Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Academic Article Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
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