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 Blood Proteins
Concept Calcium-Binding Proteins
Concept Carrier Proteins
Concept Cytoskeletal Proteins
Concept DNA-Binding Proteins
Concept Intermediate Filament Proteins
Concept Luminescent Proteins
Concept Membrane Proteins
Concept Nerve Tissue Proteins
Concept Protein Binding
Concept Protein Conformation
Concept Protein Precursors
Concept Proteins
Concept Recombinant Fusion Proteins
Concept Recombinant Proteins
Concept Repressor Proteins
Concept Viral Fusion Proteins
Concept Tumor Suppressor Protein p53
Concept Extracellular Matrix Proteins
Concept Protein Structure, Secondary
Concept Protein Structure, Tertiary
Concept Homeodomain Proteins
Concept Proto-Oncogene Proteins c-bcl-2
Concept Bone Morphogenetic Proteins
Concept Protein Isoforms
Concept Coagulation Protein Disorders
Concept rab GTP-Binding Proteins
Concept Protein Subunits
Concept Protein Transport
Concept HMGB1 Protein
Concept Tumor Suppressor Proteins
Concept Protein Interaction Mapping
Concept Multidrug Resistance-Associated Proteins
Concept Cation Transport Proteins
Concept Phosphate Transport Proteins
Concept Zebrafish Proteins
Concept Intracellular Signaling Peptides and Proteins
Concept Green Fluorescent Proteins
Concept SNARE Proteins
Concept bcl-X Protein
Concept Early Growth Response Protein 1
Concept CARD Signaling Adaptor Proteins
Concept Bone Morphogenetic Protein 1
Academic Article Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).
Academic Article Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum.
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 Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.
Academic Article Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.
Academic Article Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
Academic Article The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.
Academic Article Expression of the Abca-subfamily of genes in Abcc6-/- mice--upregulation of Abca4.
Academic Article Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?
Academic Article PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia.
Academic Article In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Academic Article Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
Academic Article ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum.
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 ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum.
Academic Article Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Academic Article Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Academic Article Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization.
Academic Article Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Academic Article Specific sequences in p120ctn determine subcellular distribution of its multiple isoforms involved in cellular adhesion of normal and malignant epithelial cells.
Academic Article Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Academic Article Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Academic Article ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families.
Academic Article Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes.
Academic Article Interspecies conservation and differential expression of mouse desmoglein gene family.
Academic Article Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Academic Article Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.
Academic Article Keratinocyte responsive element 3: analysis of a keratinocyte-specific regulatory sequence in the 230-kDa bullous pemphigoid antigen gene promoter.
Academic Article Exacerbation of pemphigus foliaceus after tetanus vaccination accompanied by synthesis of auto-antibodies against paraneoplastic pemphigus antigens.
Academic Article Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
Academic Article Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Academic Article Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Academic Article Procollagen VII self-assembly depends on site-specific interactions and is promoted by cleavage of the NC2 domain with procollagen C-proteinase.
Academic Article Effect of topical tretinoin, chemical peeling and dermabrasion on p53 expression in facial skin.
Academic Article Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
Academic Article Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?
Academic Article Linear IgA dermatosis with IgA and IgG autoantibodies to the 180 kDa bullous pemphigoid antigen (BP180): evidence for a distinct subtype.
Academic Article Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development.
Academic Article Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils.
Academic Article Transcriptional regulation of the 230-kDa bullous pemphigoid antigen gene expression by interferon regulatory factor 1 and interferon regulatory factor 2 in normal human epidermal keratinocytes.
Academic Article Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms.
Academic Article Breaking the connection: caspase 6 disconnects intermediate filament-binding domain of periplakin from its actin-binding N-terminal region.
Academic Article Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
Academic Article Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
Academic Article Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.
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 Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa.
Academic Article Tissue-specific expression of the ABCC6 gene.
Academic Article Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene.
Academic Article Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
Academic Article Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions.
Academic Article 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.
Academic Article High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV.
Academic Article Pseudoxanthoma elasticum: a metabolic disease?
Academic Article Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Academic Article A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Academic Article Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Academic Article Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.
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 Diseases of epidermal keratins and their linker proteins.
Academic Article Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Academic Article Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process.
Academic Article Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin.
Academic Article Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).
Academic Article The filaggrin story: novel insights into skin-barrier function and disease.
Academic Article Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
Academic Article Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Academic Article Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Academic Article Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
Academic Article Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts.
Academic Article Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes.
Academic Article Collagen fibril formation. A new target to limit fibrosis.
Academic Article Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance.
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 Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
Academic Article Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.
Academic Article Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Academic Article Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
Academic Article Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
Academic Article Analysis of Pseudoxanthoma Elasticum-Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins.
Academic Article Altered MCM Protein Levels and Autophagic Flux in Aged and Systemic Sclerosis Dermal Fibroblasts.
Academic Article Expression of p53 protein after nonablative rejuvenation: the other side of the coin.
Academic Article Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.
Academic Article Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.
Academic Article Pathomechanisms of epidermolysis bullosa: Beyond structural proteins.
Academic Article ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
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  • GTP Binding Proteins