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
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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Diociaiuti A et al.
Dermatology (basel, Switzerland), 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
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.
Zeng J et al.
Pharmacogenomics and Personalized Medicine, 2022
Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.
Tani N et al.
Acta Dermato-venereologica, 2020
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
[Analysis of TGM1 gene mutation in a collodion baby].
Han R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.
Tanahashi K et al.
Acta Dermato-venereologica, 2014
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L et al.
Actas Dermo-sifiliograficas, 2013
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
Vahlquist A et al.
The Journal of Investigative 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
A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene.
Muramatsu S et al.
The British Journal of Dermatology, 2004