Associated Papers
A case report and literature review of self-improving collodion baby in the newborn.
Guo Y et al.
Medicine, 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Almazroea A et al.
Medicina (kaunas, Lithuania), 2023
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
Zhang H et al.
Experimental Dermatology, 2019
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.
Takeda M et al.
The Journal of Dermatology, 2018
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature.
Angmo D et al.
Journal of Glaucoma, 2016
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P et al.
Fogorvosi Szemle, 2014
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis.
Zambrano H et al.
International Journal of Dermatology, 2014
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L et al.
Actas Dermo-sifiliograficas, 2013
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Terrinoni A et al.
Cell Death & Disease, 2012
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML et al.
Human Mutation, 2009
Fibroblast apoptosis in a patient affected by lamellar ichthyosis.
Tavian D et al.
Journal of Cutaneous Pathology, 2009
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
Farasat S et al.
Journal of Medical Genetics, 2009
A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.
Boeshans KM et al.
Journal of Molecular Modeling, 2007
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Oji V et al.
Human Molecular Genetics, 2006
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
Shawky RM et al.
Disease Markers, 2004
Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.
Esposito G et al.
The Journal of Investigative Dermatology, 2001
A novel in situ method for the detection of deficient transglutaminase activity in the skin.
Raghunath M et al.
Archives of Dermatological Research, 1998
Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.
Candi E et al.
The Journal of Biological Chemistry, 1998
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
Hennies HC et al.
American Journal of Human Genetics, 1998
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
Russell LJ et al.
Nature Genetics, 1995
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
Russell LJ et al.
American Journal of Human Genetics, 1994