Associated Papers
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
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
Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
Guo BR et al.
Clinical and Experimental Dermatology, 2013
Collodion baby and loricrin keratoderma: a case report and mutation analysis.
Yeh JM et al.
Clinical and Experimental Dermatology, 2013
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
Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations.
Akman A et al.
Clinical and Experimental 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
Progressive symmetric erythro-keratosis associated with oligodontia, severe caries, disturbed hair growth and ectopic nail: a new syndrome?
Bongiorno MR et al.
Dermatology (basel, Switzerland), 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
Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.
Duan Y et al.
Indian Dermatology Online Journal, 0