Lista de obras - Vinzenz Oji - Dominio Público Uruguay

A multistep approach to the diagnosis of rare genodermatoses

artículo científico publicado en 2016

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

scientific article published on 30 July 2008

Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.

artículo científico publicado en 2010

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

artículo científico publicado en 2009

Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients

artículo científico publicado en 2016

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

artículo científico publicado en 2016

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

artículo científico publicado en 2018

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

artículo científico publicado en 2006

Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification ⬇️

artículo científico publicado el 1 de octubre de 2010

Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile

artículo científico publicado en 2013

Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents

artículo científico publicado en 2012

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

artículo científico publicado en 2007

Detection of functionally active melanocortin receptors and evidence for an immunoregulatory activity of alpha-melanocyte-stimulating hormone in human dermal papilla cells

artículo científico publicado en 2005

Diminished protein-bound ω-hydroxylated ceramides in the skin of patients with ichthyosis with 12R-lipoxygenase (LOX) or eLOX-3 deficiency

artículo científico publicado en 2017

Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

scientific article published on 18 March 2008

Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen

artículo científico publicado en 2016

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

artículo científico publicado en 2015

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

scientific article published on 01 February 2011

Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes

artículo científico publicado en 2013

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

artículo científico publicado en 2013

High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency.

artículo científico publicado en 2014

Ichthyoses - Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options.

artículo científico publicado en 2009

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

article

Ichthyosis: clinical manifestations and practical treatment options.

scientific article published on January 2009

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

artículo científico publicado en 2013

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth

artículo científico publicado en 2009

Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies ⬇️

artículo científico publicado el 22 de marzo de 2012

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

artículo científico publicado en 2010

Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients

article

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

artículo científico publicado en 2009

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

artículo científico publicado en 2011

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing

artículo científico publicado en 2012

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

artículo científico publicado en 2008

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients

artículo científico publicado en 2015

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

artículo científico publicado en 2010

Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency

artículo científico publicado en 2016

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases

artículo científico publicado en 2004

Simultaneous quantification of cholesterol sulfate, androgen sulfates, and progestagen sulfates in human serum by LC-MS/MS. ⬇️

artículo científico publicado en 2015

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

artículo científico publicado en 2017

The neuropeptide alpha-melanocyte-stimulating hormone is critically involved in the development of cytotoxic CD8+ T cells in mice and humans

artículo científico publicado en 2010

The skin in psoriasis: assessment and challenges

artículo científico

Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

artículo científico publicado en 2013

Topical pimecrolimus: a novel therapeutic option for Netherton syndrome

artículo científico publicado en 2005

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions

artículo científico publicado en 2009

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients ⬇️

artículo científico publicado el 21 de diciembre de 2010

Lista de obras de Vinzenz Oji

A multistep approach to the diagnosis of rare genodermatoses

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification ⬇️

Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile

Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Detection of functionally active melanocortin receptors and evidence for an immunoregulatory activity of alpha-melanocyte-stimulating hormone in human dermal papilla cells

Diminished protein-bound ω-hydroxylated ceramides in the skin of patients with ichthyosis with 12R-lipoxygenase (LOX) or eLOX-3 deficiency

Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency.

Ichthyoses - Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options.

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

Ichthyosis: clinical manifestations and practical treatment options.

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth

Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies ⬇️

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases

Simultaneous quantification of cholesterol sulfate, androgen sulfates, and progestagen sulfates in human serum by LC-MS/MS. ⬇️

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

The neuropeptide alpha-melanocyte-stimulating hormone is critically involved in the development of cytotoxic CD8+ T cells in mice and humans

The skin in psoriasis: assessment and challenges

Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

Topical pimecrolimus: a novel therapeutic option for Netherton syndrome

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients ⬇️