about
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseMutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionSPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminasesMutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair SyndromeAcral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.The neuropeptide alpha-melanocyte-stimulating hormone is critically involved in the development of cytotoxic CD8+ T cells in mice and humansRevised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.Ichthyoses - Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options.Ichthyosis: clinical manifestations and practical treatment options.The skin in psoriasis: assessment and challenges.Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency.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.Simultaneous quantification of cholesterol sulfate, androgen sulfates, and progestagen sulfates in human serum by LC-MS/MS.Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile.In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.Detection of functionally active melanocortin receptors and evidence for an immunoregulatory activity of alpha-melanocyte-stimulating hormone in human dermal papilla cells.Topical pimecrolimus: a novel therapeutic option for Netherton syndrome.A multistep approach to the diagnosis of rare genodermatoses.Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.Diminished protein-bound ω-hydroxylated ceramides in the skin of patients with ichthyosis with 12R-lipoxygenase (LOX) or eLOX-3 deficiency.Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.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.Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients.Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen.Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroupLoss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German PatientsBathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian PatientsEffective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosisA newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle EastNovel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules
P50
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2000-01-01T00:00:00Z