Associated Papers
Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia.
Zhao XC et al.
Hgg Advances, 2026
SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG.
Durin Z et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2023
38037133 (PubMed )
Supplement: 13023_2023_2975_MOESM1_ESM.xlsx › cases
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
Functional Analysis of Rare Genetic Variants in the Negative Regulator of Intracellular Calcium Signaling RCAS/SLC10A7.
Wannowius M et al.
Frontiers in Molecular Biosciences, 2021
34671644 (PubMed )
Supplement: Table1.XLSX › SLC10A7_v2_missense_variants
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Laugel-Haushalter V et al.
Frontiers in Genetics, 2019
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