Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.
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Compound heterozygous DSG4 mutations cause monilethrix, and the p.W823X mutant protein loses affinity for plakoglobin, linked to desmosome disruption in the hair shaft.
"we show that the mutant DSG4 protein with the mutation p.W823X severely affects the affinity to plakoglobin protein, which may contribute to disruption of desmosomes in the patient's hair shaft"
Keratin filaments bind cell-cell adhesion complexes
Fillagrin and keratin intermediate filaments polymerize forming a network
Lamellar bodies bind the early cornified envelope
Reinforcement of the Cornified Envelope
Late envelope proteins bind cornified envelope:CDSN
CDSN binds the cornified envelope
Plasma membrane resorption
Filaggrin binds Keratin tonofilament:Desmosome