Results 151 to 160 of about 2,814 (184)

A Targeted Spatial Transcriptomics Framework for a High-Resolution Human Skin Cell Atlas

open access: yes
Peake M   +12 more
europepmc   +1 more source

Proteomic analysis of dental enamel from 20 Homo naledi individuals shows no male markers.

open access: yesCell
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, 2022
OBJECTIVE 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

METTL14-mediated N6-methyladenosine modification of Col17a1/Itgα6/Itgβ4 governs epidermal homeostasis

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

Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes [PDF]

open access: yesAmerican Journal of Human Genetics, 1999
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

COL17A1 gene polymorphisms are frequent in bullous pemphigoid

Journal of the European Academy of Dermatology and Venereology, 2021
Bullous 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

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

open access: yesBritish Journal of Dermatology, 2007
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

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

open access: yesHuman Mutation, 2018
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

Genetic variation of the gene COL17A1 and bullous pemphigoid in patients with neurodegenerative disorders

Journal of the European Academy of Dermatology and Venereology
P. Meltzanidou   +10 more
semanticscholar   +3 more sources

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