Results 251 to 260 of about 77,152 (265)

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability

Hepatology, 2012
Nadya Yousef
exaly  

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

American Journal of Human Genetics, 2017
Lisa Heinz, Slaheddine Marrakchi, Hamida Turki   +2 more
exaly  

Ichthyosis, lamellar

2011
openaire   +1 more source

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Gastroenterology, 2004
Pierre Vabres, Stanislas Lyonnet
exaly  

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

American Journal of Human Genetics, 2007
Lina Basel-Vanagaite
exaly  

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

PLoS Genetics, 2013
Franz P W Radner, Judith Fischer
exaly  

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2014
Peter M Elias
exaly  

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Journal of Investigative Dermatology, 2013
Susanne Brodesser, Peter Nürnberg, Anthony H Futerman   +2 more
exaly  

Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis

Journal of Dermatological Science, 2017
exaly  

[Lid manifestations of lamellar ichthyosis].

Journal francais d'ophtalmologie, 2021
T, El Baroudi, Y, El Ghani, S, Belghmaidi, I, Hajji, A, Moutaouakil   +4 more
openaire   +1 more source