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One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Mutation
Concept Frameshift Mutation
Concept Point Mutation
Concept Mutation, Missense
Concept INDEL Mutation
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 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 Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.
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 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 Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.
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 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 Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
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 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 Epidermolysis bullosa simplex in Israel: clinical and genetic features.
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 Epidermolysis bullosa: the expanding mutation database.
Academic Article Progress in epidermolysis bullosa: genetic classification and clinical implications.
Academic Article Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils.
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 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 Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
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 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 Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
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 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 KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Academic Article Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Academic Article Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
Academic Article Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Academic Article Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells.
Academic Article GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
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 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 Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
Academic Article Clinical phenotypes and ABCC6 gene mutations in brazilian families with pseudoxanthoma elasticum.
Academic Article Cole Disease Results from Mutations in ENPP1.
Academic Article Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum.
Academic Article Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
Academic Article Spontaneous asj-2J Mutant Mouse as a Model for Generalized Arterial Calcification of Infancy: A Large Deletion/Insertion Mutation in the Enpp1 Gene.
Academic Article Juxta-articular joint-capsule mineralization in CD73 deficient mice: Similarities to patients with NT5E mutations.
Academic Article Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
Academic Article Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
Academic Article The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.
Academic Article The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families.
Academic Article Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene.
Academic Article Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations.
Academic Article Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations.
Academic Article KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Academic Article Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.
Academic Article Gene Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Academic Article Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
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 Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.
Academic Article Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.
Academic Article Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
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 A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Academic Article Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Academic Article Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.
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 Pseudoxanthoma elasticum: Dermoscopy and mutation analysis.
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 A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.
Academic Article Inherited nonalcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
Academic Article Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Academic Article Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).
Academic Article Linear basal cell nevus with a novel mosaic PTCH1 mutation.
Academic Article Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.
Academic Article Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
Academic Article Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
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 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 Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
Academic Article Ichthyosis follicularis syndromes in patients with germline mutations in GJB2.
Academic Article ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Academic Article Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Academic Article Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.
Academic Article Mutation Update: The Spectra of PLEC Sequence Variants and Related Plectinopathies.
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