Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 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
36676727 (PubMed )
Supplement: medicina-59-00103-s001.zip › medicina-2007344-supplementary.xlsx › Reported_Variants_in_TGM1_Gene
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Esposito G et al.
The British Journal of Dermatology, 2013
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Terrinoni A et al.
Cell Death & Disease, 2012
Multiple local and recent founder effects of TGM1 in Spanish families.
Fachal L et al.
Plos One, 2012
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
Rodríguez-Pazos L et al.
The British Journal of Dermatology, 2011
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
Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.
Esposito G et al.
The Journal of Investigative Dermatology, 2001
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