Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris.
Shearer Z et al.
Clinical Case Reports, 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
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.
Zeng J et al.
Pharmacogenomics and Personalized Medicine, 2022
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P et al.
Fogorvosi Szemle, 2014
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
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.
Hackett BC et al.
The British Journal of Dermatology, 2010
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