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 Vestibulocochlear Nerve Diseases
Concept Autoimmune Diseases
Concept Disease Models, Animal
Concept Gastrointestinal Diseases
Concept Metabolic Diseases
Concept Nail Diseases
Concept Skin Diseases
Concept Skin Diseases, Vesiculobullous
Concept Skin Diseases, Genetic
Concept Peripheral Vascular Diseases
Concept Skin Diseases, Bacterial
Concept Disease Progression
Concept Genetic Predisposition to Disease
Concept Genetic Diseases, Inborn
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 Animal models of epidermolysis bullosa: update 2010.
Academic Article Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.
Academic Article Zebrafish: a model system to study heritable skin diseases.
Academic Article Revertant mosaicism in skin: natural gene therapy.
Academic Article Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.
Academic Article Regenerative medicine for skin diseases: iPS cells to the rescue.
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 Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.
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 Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
Academic Article Novel molecular therapies for heritable skin disorders.
Academic Article Integration of investigative dermatology into the global biomedical research enterprise: past, present, and future.
Academic Article Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.
Academic Article Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker.
Academic Article Magnesium: novel applications in cardiovascular disease--a review of the literature.
Academic Article Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Academic Article Rare heritable skin diseases: targets for regenerative medicine.
Academic Article Molecular therapeutics for heritable skin diseases.
Academic Article Zebrafish as a model system to study heritable skin diseases.
Academic Article Progress in heritable skin diseases: molecular bases and clinical implications.
Academic Article Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.
Academic Article Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen.
Academic Article Type 1 segmental manifestation of Hailey-Hailey disease.
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 Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
Academic Article Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Academic Article Animal models of epidermolysis bullosa--targets for gene therapy.
Academic Article Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.
Academic Article Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
Academic Article Pseudoxanthoma elasticum: a metabolic disease?
Academic Article A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Academic Article Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.
Academic Article Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
Academic Article Ex vivo gene therapy cures a blistering skin disease.
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 Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis.
Academic Article Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study.
Academic Article KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Academic Article Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).
Academic Article The filaggrin story: novel insights into skin-barrier function and disease.
Academic Article Comparison of 1D and 2D NMR spectroscopy for metabolic profiling.
Academic Article Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Academic Article Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
Academic Article Pseudoxanthoma elasticum is a metabolic disease.
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 Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells.
Academic Article Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.
Academic Article Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).
Academic Article Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.
Academic Article Molecular therapies for heritable blistering diseases.
Academic Article The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
Academic Article Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
Academic Article Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Academic Article Mouse alopecia areata and heart disease: know your mouse!
Academic Article Cole Disease Results from Mutations in ENPP1.
Academic Article Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
Academic Article Molecular Genetics of Heritable Skin Diseases: Pseudoxanthoma Elasticum as a Paradigm of China-US Collaboration.
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 Molecular Therapeutics for Heritable Skin Diseases.
Academic Article Introduction to mini-review cluster on fibrotic diseases: A Festschrift to Joel Rosenbloom, M.D., Ph.D.
Academic Article Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa.
Academic Article Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
Academic Article Misbalanced CXCL12 and CCL5 Chemotactic Signals in Vitiligo Onset and Progression.
Academic Article Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.
Academic Article Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.
Academic Article Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration.
Academic Article Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases.
Academic Article Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa.
Academic Article Inherited nonalcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
Academic Article Association of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligo.
Academic Article The matriptase-prostasin proteolytic cascade in dermatologic diseases.
Academic Article Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases.
Academic Article Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases.
Academic Article Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians.
Academic Article The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa.
Academic Article Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the a6 Integrin Gene (ITGA6).
Academic Article Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Academic Article Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations.
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