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Uitto, Jouni
One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Epidermolysis Bullosa
Concept Epidermolysis Bullosa Dystrophica
Concept Epidermolysis Bullosa, Junctional
Concept Epidermolysis Bullosa Simplex
Academic Article Progress in epidermolysis bullosa research: toward treatment and cure.
Academic Article Animal models of epidermolysis bullosa: update 2010.
Academic Article Regenerative medicine for skin diseases: iPS cells to the rescue.
Academic Article In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Academic Article Cell-based therapy for RDEB: how does it work?
Academic Article Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.
Academic Article Cell-based therapies for epidermolysis bullosa - from bench to bedside.
Academic Article Intravenously Injected Recombinant Human Type VII Collagen Homes to Skin Wounds and Restores Skin Integrity of Dystrophic Epidermolysis Bullosa.
Academic Article Progress in Epidermolysis Bullosa Research: Summary of DEBRA International Research Conference 2012.
Academic Article Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Academic Article Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Academic Article Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Academic Article Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.
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 Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Academic Article Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Academic Article Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa.
Academic Article Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
Academic Article Epidermolysis bullosa: the expanding mutation database.
Academic Article Progress in epidermolysis bullosa: genetic classification and clinical implications.
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 Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Academic Article Animal models of epidermolysis bullosa--targets for gene therapy.
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 Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Academic Article Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.
Academic Article Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Academic Article Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Academic Article Ex vivo gene therapy cures a blistering skin disease.
Academic Article Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.
Academic Article Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis.
Academic Article Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin.
Academic Article Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
Academic Article The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Academic Article Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
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 Epidermolysis bullosa: prospects for cell-based therapies.
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 Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype.
Academic Article Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.
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 Epidermolysis bullosa with pyloric atresia.
Academic Article Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
Academic Article Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Academic Article Transplanted Bone Marrow-Derived Circulating PDGFRa+ Cells Restore Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa Mouse Skin Graft.
Academic Article Rescue of the mucocutaneous manifestations by human cord blood derived nonhematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa.
Academic Article Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.
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 Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.
Academic Article Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa.
Academic Article Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often?
Academic Article KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Academic Article Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa.
Academic Article Stem Cell Therapy for Epidermolysis Bullosa-Does It Work?
Academic Article Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Academic Article Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa.
Academic Article Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.
Academic Article Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.
Academic Article Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Academic Article Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Academic Article The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa.
Academic Article EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.
Academic Article Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.
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 Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Academic Article Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa.
Academic Article Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders.
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 Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Academic Article Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Academic Article Toward treatment and cure of epidermolysis bullosa.
Academic Article Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.
Academic Article Meeting Report: The First Global Congress on Epidermolysis Bullosa, EB2020 London - Toward Treatment and Cure.
Academic Article Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-consensus: Recommendations by an international panel of experts.
Academic Article Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases.
Academic Article Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa.
Academic Article Losartan for treatment of epidermolysis bullosa: A new perspective.
Academic Article Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
Academic Article The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa.
Academic Article Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
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 Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Academic Article T-cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients.
Academic Article Pathomechanisms of epidermolysis bullosa: Beyond structural proteins.
Academic Article Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Academic Article Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series.
Search Criteria
  • Epidermolysis Bullosa