Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.
Lixiang W et al.
The Journal of International Medical Research, 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
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.
Gülnerman EK et al.
Annals of Dermatology, 2023
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
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.
Pietrzak A et al.
Orphanet Journal of Rare Diseases, 2022
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.
Zeng J et al.
Pharmacogenomics and Personalized Medicine, 2022
Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
Nasser KK et al.
Journal of Biomolecular Structure & Dynamics, 2021
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
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P et al.
Fogorvosi Szemle, 2014
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Terrinoni A et al.
Cell Death & Disease, 2012
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
Li H et al.
The Journal of Investigative Dermatology, 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
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Oji V et al.
Human Molecular Genetics, 2006
Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.
Pigg M et al.
Prenatal Diagnosis, 2000
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
Huber M et al.
The Journal of Biological Chemistry, 1997