The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.

BACKGROUND: Autosomal recessive lamellar ichthyosis (ARLI) is a clinically and genetically heterogeneous disorder. In many cases, mutations in the transglutaminase 1 gene (TGM1) have been identified, however, other clinically indistinguishable cases have been linked to chromosomes 2, 3 and 19. Previous studies have failed to establish any correlation between clinical characteristics and genetic mutations. OBJECTIVES: To investigate the molecular basis of ARLI in 10 patients with the typical clinical presentation of the disorder. METHODS: We performed polymerase chain reaction and direct sequencing-based mutation screening in all of these patients, and TGM1 immunofluorescence microscopy and in vitro enzyme activity assays in selected patients. RESULTS: Mutation screening revealed 14 mutations, four of which have been previously described. While immunofluorescence microscopy was negative in patients with non-sense mutations or out-of-frame insertions or deletions, the results were variable in cases with mis-sense mutations and in cases with no mutations in the TGM1 gene. In vitro enzyme activity assays gave results consistent with the mutation data. CONCLUSIONS: Our findings support the importance of mutation screening in the evaluation of ARLI.[1]


  1. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Cserhalmi-Friedman, P.B., Milstone, L.M., Christiano, A.M. Br. J. Dermatol. (2001) [Pubmed]
WikiGenes - Universities