Jouni Uitto
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View article: Whole-Transcriptome Sequencing–Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency
Whole-Transcriptome Sequencing–Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency Open
View article: Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections
Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections Open
HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-, β-, γ-, μ-, and ν-HPV). The γ- and β-HPVs are present in low copy numbers in healthy individuals; however, in patients with an inborn error of immu…
View article: P671: Whole-transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis patients reveals infections with α-, β- and γ-HPVs
P671: Whole-transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis patients reveals infections with α-, β- and γ-HPVs Open
View article: P366: Loss-of-function EGFR mutation in Bartter syndrome with neonatal epithelial autoinflammation
P366: Loss-of-function EGFR mutation in Bartter syndrome with neonatal epithelial autoinflammation Open
View article: Keloid Disorder: Genetic Basis, Gene Expression Profiles, and Immunological Modulation of the Fibrotic Processes in the Skin
Keloid Disorder: Genetic Basis, Gene Expression Profiles, and Immunological Modulation of the Fibrotic Processes in the Skin Open
Keloid disorder, a group of fibroproliferative skin disorders, is clinically comprised of keloids, hypertrophic scars, keloidalis nuchae, and acne keloidalis. The prototype of these disorders is keloids, which manifest as cutaneous lesions…
View article: Combination cryotherapy and intralesional corticosteroid versus steroid monotherapy in the treatment of keloids
Combination cryotherapy and intralesional corticosteroid versus steroid monotherapy in the treatment of keloids Open
Background Keloids are common and have significant negative effects on quality of life. There is a need for more effective treatment approaches for keloids. Aims We investigated treatment outcomes of intralesional triamcinolone acetonide (…
View article: 044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations
044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations Open
View article: 310 Metatranscriptomics detects emerging multidrug-resistant Candida auris in a family with a mild TP63-associated ectodermal dysplasia
310 Metatranscriptomics detects emerging multidrug-resistant Candida auris in a family with a mild TP63-associated ectodermal dysplasia Open
View article: Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis Open
Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV dise…
View article: 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
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 Open
ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic calcifi…
View article: Mutation update: The spectra of <i>PLEC</i> sequence variants and related plectinopathies
Mutation update: The spectra of <i>PLEC</i> sequence variants and related plectinopathies Open
Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal d…
View article: T‐cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients
T‐cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients Open
Recessive dystrophic epidermolysis bullosa (RDEB) patients develop poorly healing skin wounds that are frequently colonized with microbiota. Because T cells play an important role in clearing such pathogens, we aimed to define the status o…
View article: <scp>INZ</scp>‐701, a recombinant <scp>ENPP1</scp> enzyme, prevents ectopic calcification in an <i>Abcc6</i><sup>−/−</sup> mouse model of pseudoxanthoma elasticum
<span>INZ</span>‐701, a recombinant <span>ENPP1</span> enzyme, prevents ectopic calcification in an <i>Abcc6</i><sup>−/−</sup> mouse model of pseudoxanthoma elasticum Open
Pseudoxanthoma elasticum (PXE), a heritable multisystem ectopic calcification disorder, is predominantly caused by inactivating mutations in ABCC6 . The encoded protein, ABCC6, is a hepatic efflux transporter and a key regulator of extrace…
View article: ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification Open
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate …
View article: Mutation update: Variants of the <i>ENPP1</i> gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
Mutation update: Variants of the <i>ENPP1</i> gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma Open
ENPP1 encodes ENPP1, an ectonucleotidase catalyzing hydrolysis of ATP to AMP and inorganic pyrophosphate (PPi), and an endogenous plasma protein physiologically preventing ectopic calcification of connective tissues. Mutations in ENPP1 hav…
View article: Table of Contents
Table of Contents Open
View article: Whole-transcriptome sequencing–based concomitant detection of viral and human genetic determinants of cutaneous lesions
Whole-transcriptome sequencing–based concomitant detection of viral and human genetic determinants of cutaneous lesions Open
Severe viral infections of the skin can occur in patients with inborn errors of immunity (IEI). We report an all-in-one whole-transcriptome sequencing-based method by RNA-Seq on a single skin biopsy for concomitantly identifying the cutane…
View article: Comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis
Comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis Open
View article: Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency
Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency Open
View article: Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification
Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification Open
View article: Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum
Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum Open
View article: Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort Open
View article: Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes
Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes Open
View article: Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum Open
Pseudoxanthoma elasticum (PXE; OMIM 264800) is a rare heritable multisystem disorder, characterized by ectopic mineralization affecting elastic fibres in the skin, eyes and the cardiovascular system. Skin findings often lead to early diagn…
View article: Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene
Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene Open
Transient bullous dermolysis of the newborn (TBDN) is a blistering disease evident at birth or shortly thereafter, but the blistering tendency decreases with advancing age. The tissue separation in TBDN is below the lamina densa, and elect…
View article: Homozygous <i>MEFV</i> Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis
Homozygous <i>MEFV</i> Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis Open
This case series study demonstrated successful genotype-guided treatment with colchicine and low-dose prednisolone, a low-cost therapeutic option with minimal adverse effects, in patients with a novel form of autosomal recessive PAAND. Thi…
View article: Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder
Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder Open
View article: Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen ( COL7A1 ). More than 800 different pathogenic mutations in COL7A1 have been described to date; however…
View article: Development of the BioHybrid Assay: Combining Primary Human Vascular Smooth Muscle Cells and Blood to Measure Vascular Calcification Propensity
Development of the BioHybrid Assay: Combining Primary Human Vascular Smooth Muscle Cells and Blood to Measure Vascular Calcification Propensity Open
Background: Vascular calcification is an active process that increases cardiovascular disease (CVD) risk. There is still no consensus on an appropriate biomarker for vascular calcification. We reasoned that the biomarker for vascular calci…
View article: Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy Open