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A Targeted Spatial Transcriptomics Framework for a High-Resolution Human Skin Cell Atlas
Peake M +12 more
europepmc +1 more source
Proteomic analysis of dental enamel from 20 Homo naledi individuals shows no male markers.
Madupe PP +20 more
europepmc +1 more source
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COL17A1 facilitates tumor growth and predicts poor prognosis in pancreatic cancer
Biochemical and Biophysical Research Communications, 2022OBJECTIVE This study aimed to determine the role of COL17A1 in tumor progression and predict the prognosis of pancreatic cancer (PC). METHODS RNA-seq data from The Cancer Genome Atlas and Genotype-Tissue Expression were analyzed using bioinformatics ...
Zhiyao Fan, Yongzheng Li, Yufan Meng
exaly +4 more sources
Journal of Dermatological Science, 2023
BACKGROUND N6-methyladenosine (m6A) is the most abundant and reversible modification occurring in eukaryotic mRNAs, however, its functions in mammalian epidermal development are still not fully elucidated.
Danru Wang, Renpeng Zhou
exaly +4 more sources
BACKGROUND N6-methyladenosine (m6A) is the most abundant and reversible modification occurring in eukaryotic mRNAs, however, its functions in mammalian epidermal development are still not fully elucidated.
Danru Wang, Renpeng Zhou
exaly +4 more sources
Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes [PDF]
SummaryJunctional epidermolysis bullosa (JEB), a genetically heterogeneous group of blistering skin diseases, can be caused by mutations in the genes encoding laminin 5 or collagen XVII, which are components of the hemidesmosome-anchoring filament ...
L Bruckner-Tuderman
exaly +5 more sources
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Journal of Medical GeneticsJames A Poulter +2 more
exaly +4 more sources
COL17A1 gene polymorphisms are frequent in bullous pemphigoid
Journal of the European Academy of Dermatology and Venereology, 2021Bullous pemphigoid (BP) is an organ-specific autoimmune disease of the skin characterized and caused by autoantibodies. Mechanistically, genetic variations in the COL17A1 gene may cause collagen deficiency or alteration of the production, function, and ...
Pardis-Sadat Tabatabaei-Panah +13 more
semanticscholar +3 more sources
Background Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB). Objectives Here we give an overview of the genotype-phenotype correlation in 12 patients from the Netherlands with type ...
Hendri H. Pas +2 more
exaly +5 more sources
Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering diseases. We developed a next generation sequencing (NGS) panel covering 21 genes associated with skin fragility disorders, and it was applied to DNA from 91 probands with the ...
H. Vahidnezhad +12 more
semanticscholar +2 more sources
Journal of the European Academy of Dermatology and Venereology
P. Meltzanidou +10 more
semanticscholar +3 more sources
P. Meltzanidou +10 more
semanticscholar +3 more sources

