Cholesterol 3-Sulfate Interferes with Cornified Envelope Assembly by Diverting Transglutaminase 1 Activity from the Formation of Cross-links and Esters to the Hydrolysis of Glutamine [PDF]
Demény, Máté Ágoston+4 more
core +1 more source
Novel Mutations of the Transglutaminase 1 Gene in Lamellar Ichthyosis
Jun-Mo Yang+10 more
openalex +1 more source
Proteomic analysis of a filaggrin-deficient skin organoid model shows evidence of increased transcriptional-translational activity, keratinocyte-immune crosstalk and disordered axon guidance [PDF]
A Fabregat+69 more
core +2 more sources
Long and very long lamellar phases in model stratum corneum lipid membranes
Membrane models of the stratum corneum (SC) lipid barrier, either healthy or affected by recessive X-linked ichthyosis, constructed from ceramide [Cer; nonhydroxyacyl sphingosine N-tetracosanoyl-d-erythro-sphingosine (CerNS24) alone or with omega-O ...
Petra Pullmannová+7 more
doaj
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]
core +1 more source
Rare case of Neonatal Lamellar Ichthyosis - Collodian baby
Vidyadhar B Bangal+3 more
openalex +1 more source
Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family. [PDF]
Karim N, Iqbal J, Naeem M.
europepmc +1 more source
Transglutaminase 1 Gene Mutations in Italian Patients with Autosomal Recessive Lamellar Ichthyosis [PDF]
Gabriella Esposito+5 more
openalex +1 more source