Associated Papers
Novel Compound Heterozygous Mutations in ILNEB Syndrome.
Wu H et al.
The Australasian Journal of Dermatology, 2025
Analysis of mutation-originated gain-of-glycosylation using mass spectrometry-based N-glycoproteomics.
Yang H et al.
Rapid Communications in Mass Spectrometry : Rcm, 2024
Gain-of-glycosylation in breast multi-drug-resistant MCF-7 adenocarcinoma cells and cancer stem cells characterized by site- and structure-specific N-glycoproteomics.
Qin S et al.
Analytica Chimica Acta, 2023
Successful kidney transplantation in a patient with neonatal-onset ILNEB.
Okamoto T et al.
Pediatric Transplantation, 2021
Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.
Fan Y et al.
Scientific Reports, 2018
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
Colombo EA et al.
Orphanet Journal of Rare Diseases, 2016
Recently Identified Forms of Epidermolysis Bullosa.
McGrath JA
Annals of Dermatology, 2015
Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.
Yalcin EG et al.
Human Molecular Genetics, 2015
Glomerular disease: Gain-of-glycosylation mutation in ITGA3 causes nephrotic syndrome.
Allison SJ
Nature Reviews. Nephrology, 2013
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.
Nicolaou N et al.
The Journal of Clinical Investigation, 2012
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