Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Minale EMP et al.
Genes, 2024
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang Q et al.
Bmc Medical Genomics, 2023
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K et al.
American Journal of Medical Genetics. Part A, 2022
Craniofacial Diseases Caused by Defects in Intracellular Trafficking.
Lu CL et al.
Genes, 2021
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
TANGO1 and SEC12 are copackaged with procollagen I to facilitate the generation of large COPII carriers.
Yuan L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.
Cutrona MB et al.
Handbook of Experimental Pharmacology, 2018
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Gupta S et al.
Cold Spring Harbor Molecular Case Studies, 2016
Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.
Zhu M et al.
Scientific Reports, 2015
Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.
Unlu G et al.
The International Journal of Biochemistry & Cell Biology, 2014
The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum.
Kim SD et al.
The Journal of Biological Chemistry, 2012
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
Boyadjiev SA et al.
Clinical Genetics, 2011