|1.||Ishida-Yamamoto, Akemi: 3 articles (04/2004 - 02/2003)|
|2.||Takahashi, H: 3 articles (10/2001 - 08/2000)|
|3.||Iizuka, H: 3 articles (10/2001 - 08/2000)|
|4.||Ishida-Yamamoto, A: 3 articles (10/2001 - 08/2000)|
|5.||Fischer, Susan M: 2 articles (11/2006 - 02/2005)|
|6.||Uchida, Yoshikazu: 2 articles (09/2005 - 04/2004)|
|7.||Elias, Peter M: 2 articles (09/2005 - 04/2004)|
|8.||Takahashi, Hidetoshi: 2 articles (04/2004 - 11/2003)|
|9.||Iizuka, Hajime: 2 articles (04/2004 - 11/2003)|
|10.||Farber, Donna L: 1 article (11/2015)|
|1.||Lamellar Ichthyosis (Harlequin Ichthyosis)
04/01/2004 - "But in contrast to lamellar ichthyosis, the CE scaffold partially normalizes in the outer SC in loricrin keratoderma."
04/01/2004 - "These results show that the barrier abnormality in loricrin keratoderma is linked to a defective CE scaffold, resulting in increased extracellular permeability, as shown previously for another "scaffold disorder", lamellar ichthyosis. "
11/03/1995 - "Failure to cross-link loricrin by TGase 1 may explain the phenotype of lamellar ichthyosis, a disease caused by mutations in the TGase 1 gene."
08/01/2000 - "Defects in cross-linking of loricrin are detected in transglutaminase 1 knockout mice, the animal model of lamellar ichthyosis. "
05/01/1993 - "The results suggest that in our cases of lamellar ichthyosis, (1) disturbed membrane anchorage of transglutaminase TGK could alter loricrin and involucrin cross-linkage and the formation of the cornified cell envelope and that (2) immunohistologic study might serve as an early diagnostic and prognostic tool in the treatment of collodion babies."
04/01/2004 - "In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man. "
10/01/1997 - "Only the variant with ichthyosis appears to be due to loricrin mutation. "
10/01/1997 - "Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis."
05/01/2002 - "Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum. "
04/01/2004 - "Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)."
10/01/1998 - "A mutation in the gene encoding loricrin has recently been reported in a subset of patients with Vohwinkel's Keratoderma manifesting an associated ichthyosiform dermatosis. "
07/01/1998 - "We have recently demonstrated that two inherited skin diseases, Vohwinkel's syndrome (VS) and progressive symmetric erythrokeratoderma (PSEK) may result from mutations in the gene encoding loricrin, a major constituent of the CE. "
07/01/1998 - "Loricrin and human skin diseases: molecular basis of loricrin keratodermas."
01/01/2006 - "As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin keratoderma: (i) honeycomb palmoplantar keratoderma and (ii) diffuse ichthyosiform dermatosis. "
12/01/2000 - "We have recently identified heterozygous loricrin gene mutations in two dominantly inherited skin diseases, the ichthyotic variant of Vohwinkel syndrome and progressive symmetric erythrokeratoderma, collectively termed loricrin keratoderma. "
|4.||Psoriasis (Pustulosis Palmaris et Plantaris)
11/01/2004 - "Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus."
08/01/2007 - "In addition, the 3' end of the FLG open-reading frame was sequenced in a number of patients with differing types of psoriasis (plaque, guttate, palmoplantar, and late-onset), which excluded the possibility of a gain-of-function frameshift mutation such as those found in loricrin or certain keratin genes. "
06/01/1996 - "Using a quantitative reverse transcription-polymerase chain reaction, we analysed the expression of beta 2-adrenergic receptor-mRNA, loricrin-mRNA, and involucrin-mRNA in the epidermis of five patients with psoriasis vulgaris. "
11/01/1992 - "In disorders accompanied by parakeratosis, a sign of incomplete differentiation (psoriasis, prurigo nodularis) loricrin was not detected, whereas the tissue expressed filaggrin. "
02/01/1993 - "In contrast to involucrin, loricrin expression was consistently down-regulated in agranulotic, parakeratotic keratinization as observed in psoriasis, dermatitis, pityriasis lichenoides, porokeratosis, or precancerous and malignant squamous lesions. "
|5.||Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
01/01/2006 - "Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. "
01/01/2006 - "Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature."
10/01/2001 - "A group of hereditary palmoplantar keratodermas due to heterozygous mutation in the loricrin gene has recently been identified. "
07/01/1998 - "These data confirm the presence of non-Vohwinkel's syndrome mutilating palmoplantar keratoderma phenotype with abnormal loricrin cross-linking at the final stage of cornified cell envelope formation, which is caused by mutations outside the epidermal differentiation complex region."
07/01/1998 - "Although loricrin gene mutations were recently reported in Vohwinkel's syndrome and erythrokeratoderma, the genetic basis of mutilating palmoplantar keratoderma is largely unexplored. "
|7.||Proteins (Proteins, Gene)