Associated Papers
The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Gao X et al.
Journal of Dermatological Science, 2022
Loricrin keratoderma: description of a novel mutation, systematic review and meta-analysis between genotypic and phenotypic features.
Montero-Vilchez T et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Loricrin downregulation and epithelial-related disorders: a systematic review.
Catunda R et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Pohler E et al.
The British Journal of Dermatology, 2015
Two novel mutations in the LOR gene in three families with loricrin keratoderma.
Hotz A et al.
The British Journal of Dermatology, 2015
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.
Rorke EA et al.
The Journal of Investigative Dermatology, 2015
Vohwinkel's Syndrome: A Rare Disorder of Keratinization.
Choudhary N et al.
Indian Journal of Dermatology, 2014
Collodion baby and loricrin keratoderma: a case report and mutation analysis.
Yeh JM et al.
Clinical and Experimental Dermatology, 2013
Expression of wild-type, but not mutant, loricrin causes programmed cell death in HaCaT keratinocytes.
Yoneda K et al.
The Journal of Dermatology, 2010
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma.
Yoneda K et al.
The Journal of Biological Chemistry, 2010
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.
Song S et al.
The British Journal of Dermatology, 2008
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
Drera B et al.
Clinical Genetics, 2008
Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.
Gedicke MM et al.
The British Journal of Dermatology, 2006
Progressive symmetric erythrokeratodermia: report of a Chinese family and evidence for genetic heterogeneity.
Cui Y et al.
Journal of Dermatological Science, 2004
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.
O'Driscoll J et al.
Clinical and Experimental Dermatology, 2002
Programmed cell death in normal epidermis and loricrin keratoderma. Multiple functions of profilaggrin in keratinization.
Ishida-Yamamoto A et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
Loricrin and human skin diseases: molecular basis of loricrin keratodermas.
Ishida-Yamamoto A et al.
Histology and Histopathology, 1998
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
Ishida-Yamamoto A et al.
American Journal of Human Genetics, 1997
Palmoplantar keratoderma with honeycombing: A case of loricrin keratoderma with heterozygous frameshift mutation in LOR gene, from India.
Muna B et al.
Indian Journal of Dermatology, Venereology and Leprology, 0