Results 21 to 30 of about 587,556 (305)
Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient [PDF]
Anais Brasileiros de Dermatologia, 2014 Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the ...
João Roberto Antonio +3 more
doaj +2 more sources
Multi-omics integration reveals molecular networks and regulators of psoriasis. [PDF]
, 2019 BackgroundPsoriasis is a complex multi-factorial disease, involving both genetic susceptibilities and environmental triggers. Genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) have been carried out to identify genetic ...
Arneson, Douglas +5 more
core +3 more sources
Molecular Therapy: Nucleic Acids, 2018 Recessive dystrophic epidermolysis bullosa is a rare and severe genetic skin disease resulting in blistering of the skin and mucosa. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a wide variety of mutations in COL7A1-encoding type VII ...
Araksya Izmiryan +5 more
doaj +1 more source
Anais Brasileiros de Dermatologia, 2013 Linear Darier is a rare variant of Darier's Disease. The keratotic papules follow Blaschko's lines, characterizing the cutaneous mosaicism. We report the case of a 42-year-old woman who presented with small, linearly distributed, reddish-brown papules on
Fernanda Guedes Lavorato +5 more
doaj +1 more source
F1000Research, 2014 Solitary mastocytoma, a rare dermatological entity accounts for 10-15% of cutaneous mastocytosis. We report a rare case of solitary mastocytoma presenting at birth, treated successfully with topical tacrolimus. Along with reassurance and strict avoidance
M. S. Sukesh +4 more
doaj +1 more source
Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]
, 2020 The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo +3 more
core
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke [PDF]
, 2013 Haemorrhagic stroke accounts for approximately 20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 ...
Aislynn Taggart +35 more
core +1 more source
Nature Communications, 2022 Microbiome composition is influenced by genetics, although the specific host genetic factors responsible are not well known. Here, the authors performed a genome-wide meta-analysis to discover host genetic effects on skin microbiota and finding potential
Lucas Moitinho-Silva +17 more
doaj +1 more source
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]
, 2015 Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter +13 more
core +2 more sources
Emerging Topical and Systemic JAK Inhibitors in Dermatology [PDF]
, 2019 Accumulating data on cellular and molecular pathways help to develop novel therapeutic strategies in skin inflammation and autoimmunity. Examples are psoriasis and atopic dermatitis, two clinically and immunologically well-defined disorders.
Ghoreschi, Kamran +2 more
core +1 more source