Results 131 to 140 of about 371 (141)

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

Hepatology, 2012
Nadya Yousef
exaly  

Keratin 2e mutations in patients with ichthyosis bullosa of Siemens

Journal of the European Academy of Dermatology and Venereology, 1995
openaire   +1 more source

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  

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  

Ichthyosis vulgaris: the filaggrin mutation disease

British Journal of Dermatology, 2013
exaly