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List of works by Jouni Uitto

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

scientific article published on 29 November 2018

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

scientific article

A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse ⬇️

scientific article published on July 28, 2012

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

scientific article published on 01 December 2018

A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum

scientific article

ABCC6 does not transport adenosine — Relevance to pathomechanism of pseudoxanthoma elasticum ⬇️

scientific article published on July 20, 2011

ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum

scientific article published on 28 October 2011

Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis

scientific article

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

scientific article published on 19 January 2017

Administration of Bone Marrow Derived Mesenchymal Stem Cells into the Liver: Potential to Rescue Pseudoxanthoma Elasticum in a Mouse Model (Abcc6−/−) ⬇️

scientific article published on November 26, 2012

Administration of vitamin K does not counteract the ectopic mineralization of connective tissues inAbcc6-/-mice, a model for pseudoxanthoma elasticum ⬇️

scientific article published on February 15, 2011

Advocacy groups as research organizations: the PXE International example

scientific article

Altered MCM protein levels and autophagic flux in aged and systemic sclerosis dermal fibroblasts

scientific article

Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells

scientific article published on 27 October 2008

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB

scientific article published on 3 March 2015

Analysis of chemotactic molecules in bone marrow-derived mesenchymal stem cells and the skin: Ccl27-Ccr10 axis as a basis for targeting to cutaneous tissues ⬇️

scientific article published on February 1, 2013

Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins

scientific article

Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa

scientific article published on June 2007

Angioid Streaks in Pseudoxanthoma Elasticum: Role of the p.R1268Q Mutation in the ABCC6 Gene ⬇️

scientific article published on December 23, 2010

Animal models of epidermolysis bullosa--targets for gene therapy

scientific article

Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6⁻/⁻).

scientific article published on 27 June 2013

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

scientific article published on 16 January 2019

Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance

scientific article published on 7 August 2008

Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes

scientific article published on 18 March 2008

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

scientific article

Cell‐based therapies for epidermolysis bullosa – from bench to bedside ⬇️

scientific article published on November 1, 2012

Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa

scientific article published on 27 August 2016

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes ⬇️

scientific article

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum

scientific article

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

article

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene

scientific article published on 30 December 2008

Cole Disease Results from Mutations in ENPP1.

scientific article published on 26 September 2013

Collagen fibril formation. A new target to limit fibrosis

scientific article published on 23 July 2008

Comparison of 1D and 2D NMR spectroscopy for metabolic profiling

scientific article

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities

scientific article

Connective tissue mineralization in Abcc6−/− mice, a model for pseudoxanthoma elasticum ⬇️

scientific article published on March 6, 2012

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

scientific article published on 04 February 2020

Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion

article

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris

scientific article (publication date: 18 April 2003)

Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin

scientific article

Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms

scientific article published in October 2004

Diseases of epidermal keratins and their linker proteins

scientific article published on 24 April 2007

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

scientific article published in June 2002

Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy

scientific article published on January 2016

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness

scientific article

EB2017 - Progress in Epidermolysis Bullosa Research Towards Treatment and Cure

scientific article published on 29 January 2018

Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification

scientific article

Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice

scientific article published on 17 February 2016

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study

scientific article

Effect of size at the nanoscale and bilayer rigidity on skin diffusion of liposomes

scientific article published in October 2009

Effect of topical tretinoin on photoaged facial skin: a histometric, immunohistochemical and ultrastructural study

scientific article published in December 2004

Effects of the Nd:YAG 1320-nm laser on skin rejuvenation: Clinical and histological correlations ⬇️

scientific article published on June 1, 2011

Ehlers-Danlos syndrome-molecular genetics beyond the collagens

scientific article published in April 2004

Electro-optical Synergy Technique: A New and Effective Nonablative Approach to Skin Aging ⬇️

scientific article published on December 1, 2010

Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy

scientific article

Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).

scientific article

Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients

scientific article published on 9 March 2016

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

scientific article published on 20 July 2018

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

scientific article published on 12 June 2018

Epidermolysis Bullosa Carrier Frequencies in the US Population

scholarly article by Ellen Pfendner published in March 2001

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

scientific 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

scientific article

Epidermolysis bullosa with pyloric atresia

scientific article published on January 2010

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

scientific article

Epidermolysis bullosa: diagnostic guidelines in the laboratory setting

scientific article published on 22 August 2019

Epidermolysis bullosa: the expanding mutation database

scientific article published in October 2004

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

scientific article published on 10 October 2017

Ex vivo gene therapy cures a blistering skin disease

scientific article published on 9 April 2007

Expression of p53 Protein After Nonablative Rejuvenation: The Other Side of the Coin ⬇️

scientific article published on March 4, 2013

Expression of p53 in normal sun-exposed and protected skin (type IV-V) in different decades of age.

scientific article

Expression of the Abca-subfamily of genes in Abcc6−/− mice - upregulation of Abca4 ⬇️

scientific article published on March 22, 2011

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings

scientific article published on 20 October 2011

Extracellular matrix in cutaneous ageing: the effects of 0.1% copper-zinc malonate-containing cream on elastin biosynthesis

scientific article

Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.

scientific article published in August 2005

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14 ⬇️

scientific article published on June 14, 2012

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

scientific article published on 27 June 2018

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.

scientific article published on 9 February 2018

Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.

scientific article published on 12 October 2009

Functional Characterization of SAMD9, a Protein Deficient in Normophosphatemic Familial Tumoral Calcinosis ⬇️

scientific article published on December 16, 2010

GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity

scientific article

GGCX mutations in a patient with PXE/CL-like overlapping phenotype

scientific article published on 30 September 2020

Gene expression signatures of mouse bone marrow-derived mesenchymal stem cells in the cutaneous environment and therapeutic implications for blistering skin disorder ⬇️

scientific article published on September 21, 2010

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations

scientific article

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

scientific article

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations

scientific article

Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice

scientific article

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

scientific article published on 24 January 2018

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

scientific article published on 12 January 2020

Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum

scientific article

High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV.

scientific article published on 15 March 2006

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

scientific article published on 27 September 2019

Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes.

scientific article

Increased level of cathelicidin (LL-37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism

scientific article published on 30 September 2020

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

scientific article published on 01 May 2019

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

scientific article

Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa

scientific article

Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.

scientific article published on April 2017

Integration of Investigative Dermatology into the Global Biomedical Research Enterprise: Past, Present, and Future ⬇️

scientific article published on March 1, 2012

Interferon-gamma down-regulates expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1) in epidermal keratinocytes via novel chimeric sequences of ISRE and GAS.

scientific article

Interspecies conservation and differential expression of mouse desmoglein gene family

scientific article

Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa

scientific article published on 15 January 2013

Introduction to mini-review cluster on fibrotic diseases: A Festschrift to Joel Rosenbloom, M.D., Ph.D.

scientific article

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

scientific article published on April 2002

Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations

scientific article

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome

scientific article published on 29 November 2007

Keloid Pathogenesis: Potential Role of Cellular Fibronectin with the EDA Domain

scientific article published on 16 February 2015

Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases

scientific article published on 19 November 2020

Keloids: Animal models and pathologic equivalents to study tissue fibrosis

scientific article published on 28 January 2016

Keloids: The paradigm of skin fibrosis - Pathomechanisms and treatment

scientific article

Keratinocyte responsive element 3: analysis of a keratinocyte-specific regulatory sequence in the 230-kDa bullous pemphigoid antigen gene promoter

scientific article published on February 2003

Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation

scientific article

Keratinocyte-Targeted Expression of Human Laminin γ2 Rescues Skin Blistering and Early Lethality of Laminin γ2 Deficient Mice ⬇️

scientific article published on September 18, 2012

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

scientific article published on 02 November 2020

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes

Linear IgA dermatosis with IgA and IgG autoantibodies to the 180 kDa bullous pemphigoid antigen (BP180): evidence for a distinct subtype

scientific article published in June 2004

Linear basal cell nevus with a novel mosaic PTCH1 mutation

scientific article published on 16 April 2020

Losartan for treatment of epidermolysis bullosa - a new perspective

scientific article published on 05 December 2020

Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene

scientific article published in December 2002

Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation

scientific article

Magnesium Reduces Carotid Intima‐Media Thickness in a Mouse Model of Pseudoxanthoma Elasticum: A Novel Treatment Biomarker ⬇️

scientific article published on June 1, 2012

Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum

scientific article

Magnesium: Novel Applications in Cardiovascular Disease – A Review of the Literature ⬇️

scientific article published on January 1, 2012

Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes.

scientific article

Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier

scientific article published on December 2007

Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice

scientific article published on 22 July 2015

Mineralization/Anti-Mineralization Networks in the Skin and Vascular Connective Tissues ⬇️

scientific article published on 08 May 2013

Misbalanced CXCL12 and CCL5 Chemotactic Signals in Vitiligo Onset and Progression

scientific article published on 26 January 2017

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

scientific article published on 22 March 2002

Molecular Genetics of Heritable Skin Diseases: Pseudoxanthoma Elasticum as a Paradigm of China-US Collaboration

scientific article

Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities

scientific article

Molecular Therapeutics for Heritable Skin Diseases ⬇️

scientific article published on November 15, 2012

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population

scientific article published in April 2006

Molecular therapies for heritable blistering diseases

scientific article published on 04 July 2009

Mouse Alopecia Areata and Heart Disease: Know Your Mouse! ⬇️

scientific article published on June 17, 2013

Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis ⬇️

scientific article published on July 1, 2012

Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis

scientific article published on 28 April 2016

Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes

scientific article

Multiple minimally invasive Erbium: Yttrium Aluminum Garnet laser mini‐peels for skin rejuvenation: an objective assessment ⬇️

scientific article published on June 1, 2012

Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy ⬇️

scientific article published on June 20, 2013

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

scientific article

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

scientific article (publication date: August 2000)

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

scientific article

Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation

scientific article published on 08 October 2020

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

scientific 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

scientific article published on 03 August 2018

Noninvasive assessment of UV-induced skin damage: comparison of optical measurements to histology and MMP expression

scientific article published on 10 November 2009

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein

scientific article

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

scientific article published in January 2008

Novel coronavirus 2019 (COVID-19) and epidermolysis bullosa: report of three cases

scientific article published on 14 August 2020

Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).

scientific article

PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

scientific article

PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

scientific article published on June 2014

Pachyonychia congenita: A case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

scientific article published on 02 December 2018

Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum

scientific article

Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development

scientific article

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

scientific article published on 12 April 2017

Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE. ⬇️

scientific article published on 23 June 2017

Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy

scientific article published on 22 December 2004

Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum ⬇️

scientific article published on May 23, 2013

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

scientific article

Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration

scientific article published on 20 July 2017

Procollagen VII Self-Assembly Depends on Site-Specific Interactions and Is Promoted by Cleavage of the NC2 Domain with Procollagen C-Proteinase ⬇️

scientific article published on October 7, 2003

Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012.

scientific article published in September 2013

Progress in epidermolysis bullosa research: toward treatment and cure

scientific article published on 15 April 2010

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification

scientific article

Progress in epidermolysis bullosa: genetic classification and clinical implications

scientific article published in November 2004

Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.

scientific article published in June 2012

Progress in heritable skin diseases: molecular bases and clinical implications

scientific article

Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.

scientific article published on January 2009

Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum

scientific article

Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015

scientific article

Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro

scientific article published on 13 December 2007

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development

article

Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting ⬇️

scientific article published on June 1, 2013

Pseudoxanthoma elasticum is a metabolic disease

scientific article

Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders – can diet help? ⬇️

scientific article published on March 16, 2011

Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?

scientific article

Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy

scientific article

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

scientific article

Pseudoxanthoma elasticum: genetic diagnostic markers

scientific article published on January 2008

Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms

scientific article

Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).

scientific article

Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

scientific article published on 10 June 2011

Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-).

scientific article published on 04 October 2007

Radiofrequency facial rejuvenation: Evidence-based effect

scientific article published in March 2011

Rate of change of carotid intima-media thickness with magnesium administration in Abcc6⁻/⁻ mice

scientific article published on 19 April 2013

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

scientific article published in 2022

Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis

scientific article

Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

scientific article

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes

scientific article published in September 2002

Rescue of the mucocutaneous manifestations by human cord blood derived nonhematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa

scientific article published on June 2015

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders

scientific article

Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6−/−) ⬇️

scientific article published on September 1, 2012

Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy

scientific article published on September 1, 2012

Revertant mosaicism in skin: natural gene therapy

scientific article (publication date: March 2011)

SVEP1 plays a crucial role in epidermal differentiation

scientific article published on 20 February 2017

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

scientific article published on 23 February 2018

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

scientific article published on 13 February 2004

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation ⬇️

scientific article published on July 26, 2012

Specific sequences in p120ctn determine subcellular distribution of its multiple isoforms involved in cellular adhesion of normal and malignant epithelial cells.

scientific article published in April 2002

Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene

scientific article

Stem Cell Therapy for Epidermolysis Bullosa-Does It Work?

scientific article published in November 2016

Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes

scientific article

Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues

scientific article

Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa

scientific article published on October 2003

The Importance of Research Data Sharing: The Meeting Reports Section of the JID.

scientific article published in December 2017

The Samd9L Gene: Transcriptional Regulation and Tissue-Specific Expression in Mouse Development ⬇️

scientific article published on March 17, 2011

The abcc6a gene expression is required for normal zebrafish development

scientific article

The benefits of international postdoctoral research fellowships: a personal perspective

scientific article published in October 2013

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

scientific article

The complexity of elastic fibre biogenesis in the skin – a perspective to the clinical heterogeneity of cutis laxa ⬇️

scientific article published on October 23, 2012

The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene

scientific article

The filaggrin story: novel insights into skin-barrier function and disease

scientific article published on 18 December 2007

The gene family of ABC transporters--novel mutations, new phenotypes

scientific article

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

scientific article

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

The matriptase-prostasin proteolytic cascade in dermatologic diseases

scientific article published on 29 April 2020

The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum

scientific article

The role of elastin and collagen in cutaneous aging: intrinsic aging versus photoexposure.

scientific article published on February 2008

Tissue-specific expression of the ABCC6 gene

scientific article published in November 2005

Topical Application of Recombinant Type VII Collagen Incorporates Into the Dermal–Epidermal Junction and Promotes Wound Closure ⬇️

scientific article published on May 14, 2013

Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression

scientific article published on December 2003

Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene

scientific article published in February 2006

Transcriptional regulation of the 230-kDa bullous pemphigoid antigen gene expression by interferon regulatory factor 1 and interferon regulatory factor 2 in normal human epidermal keratinocytes

scientific article published on December 2004

Type VII Collagen Deficiency Causes Defective Tooth Enamel Formation due to Poor Differentiation of Ameloblasts ⬇️

scientific article published on August 31, 2012

Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa

scientific article published on January 2010

Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin

scientific article (publication date: October 2002)

Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy

scientific article published on 14 November 2016

Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization ⬇️

scientific article published on January 30, 2013

Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum

scientific article published on 15 February 2013

ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families.

scientific article

Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum

scientific article published on 01 November 2018

Zebrafish as a model system to study heritable skin diseases.

scientific article

Zebrafish type XVII collagen: Gene structures, expression profiles, and morpholino “knock-down” phenotypes ⬇️

scientific article published on August 4, 2010

Zebrafish: a model system to study heritable skin diseases

scientific article

cDNA Cloning, mRNA Expression, and Chromosomal Mapping of Human and Mouse Periplakin Genes

article

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