...-Regeneron DiscovEHR collaboration Introduction: Hidradenitis suppurativa (HS) is a prevalent and persistent inflammatory skin disorder, lacking a known cure or effective biomarkers for early diagnosis at present. The genetic determinants of HS have not been fully documented, but it is believed to result...

.... The genetic profile of HS tunnels varies from non-tunnel HS skin, with upregulation of pro-inflammatory and downregulation of anti-inflammatory genes. Lastly, treatment with newly developed drugs targeting different subunits of IL-17 seems promising in decreasing dermal tunnel drainage and in the resolution...

... and various biological functions especially the generation of amyloid-β peptides, given that Psen1 knockout mice displayed a Notch phenotype and a tough block in amyloid-β peptide production [ 47, 49 ]. Presenilin is best known for its role in early-onset genetic Alzheimer’s disease and non-Alzheimer’s...

...Mari Løset; Sara J. Brown; Marit Saunes; Kristian Hveem Atopic dermatitis (AD) is a complex disease that is thought to be triggered by environmental factors in genetically susceptible individuals. Twin studies have estimated the heritability of AD to be approximately 75%, with the null (loss...

... or stimulation of immune responses. However, these treatments are not without challenges in terms of resistance and toxicity. Physicians should be aware of these side effects as prompt treatment may save lives. Melanoma genetics is also unravelling new genetic risk factors involving telomere genes as well as new...

.... Despite a considerable increase in information about the genetic background, inter- and intrafamilial phenotypic variability/penetrance are not well documented. Objective: To describe a large French HLRCC family and provide new data on penetrance and intrafamilial variability. Materials and Methods...

... unknown genes are responsible for more diffuse phenotypes. Objective: We investigated a PFH family with a new phenotype, providing evidence that PFH is a clinically and genetically heterogeneous condition. Methods: Family members were examined by autonomic tests, skin biopsy and genetic analysis...

.... Psoriasis Natural history Age onset Multifactorial inheritance Epidemiology Genetics Environment Remission Familial Occurrence Dermatologica 148: 1-18 (1974) The Natural History of Psoriasis in 5,600 Patients1 Eugene M. F ärber and M. Lexie N all Department of Dermatology, School of Medicine...

... of this subject. The results indicate that this method might be useful for personal identification and in the study of genetical problems concerning der matoglyphics. 16 10 2009 © 1972 S. Karger AG, Basel 1972 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part...

... position on the genetics and epidemiology of psoriasis is summarised. Recent observations on the relationship of histocompatibility system antigens to ordinary and pustular psoriasis could lead to important advances. Clinical discussion is confined to psoriasis in childhood, the hair, nails and mucosal...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Epidermolysis bullosa with junctional blister Pigmentation Hyper-keratosis Genetics...

... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Monilethrix Scanning electron microscopy Genetics Original Papers Originalarbeiten Travaux originaux Dermatológica...

.... These findings illustrate that a dermal defect may significantly modulate epithelial differentiation. Alopecia Dermo-epidermal relationships Hair Genetics Scanning electron microscopy Tricho-rhino-phalangeal syndrome Dermatologica 165: 16-23 (1982) Tricho-Rhino-Phalangeal Syndrome Disturbed Geometric...

...Jean-Jacques Guilhou; Jean-Pierre Molès Psoriasis is a complex genetic disorder in which the disease, according to the current concept, is caused by the interplay of many different genes. However, recent genetic studies indicate that the location of these genes varies considerably among populations...

...Nilgün Şentürk; Fatma Aydın; Asuman Birinci; Levent Yildiz; Tayyar Cantürk; Belma Durupınar; Ahmet Yaşar Turanlı Background: Lichen sclerosus (LS), is characterized by localized patches of atrophy and whitening of the skin. The cause of LS remains unknown, but genetic, hormonal, immunologic factors...

... not caused by genetic defects of the epidermal lipid metabolism, but it appears to represent an epiphenomenon of a disturbed cornification. We would like to thank Dr. J. Hollmann for stimulating discussion. We gratefully acknowledge the expert technical assistance of Mrs. E. Erler and Mrs. M. Niermann...

..., nodulocystic acne and conglobate acne has proven genetic influences. Postadolescent acne is related with a first-degree relative with the condition in 50% of the cases. Chromosomal abnormalities, HLA phenotypes, polymorphism of human cytochrome P-450 1A1 and MUC1 gene are involved in the pathogenesis of acne...