Jouni Uitto
0000-0003-4639-807X
43 papers found
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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug‐induced associations
Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum
Ichthyosis follicularis syndromes in patients with mutations in GJB2
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
INZ‐701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6−/− mouse model of pseudoxanthoma elasticum
Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder
Comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis
Novel splice mutation in CDSN gene causing type b peeling skin syndrome
Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum
Lack of efficacy of dupilumab in the treatment of keloid disorder
A phytic acid analogue INS‐3001 prevents ectopic calcification in an Abcc6 −/− mouse model of pseudoxanthoma elasticum
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder
Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases
GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype
Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p. Asp50Asn GJB2 mutation
Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation
Increased level of cathelicidin (LL‐37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism
Novel coronavirus 2019 ( COVID ‐19) and epidermolysis bullosa: report of three cases
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