Associated Papers
Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.
Eisenhaber B et al.
Biology Direct, 2021
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
Liu G et al.
Experimental and Therapeutic Medicine, 2020
Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation.
Graham JB et al.
Molecular Biology of the Cell, 2020
A Report on a Family with TMTC3-Related Syndrome and Review.
Hana S et al.
Case Reports in Medicine, 2020
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Jerber J et al.
American Journal of Human Genetics, 2016
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