Associated Papers
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
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Dna and Cell Biology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Identification of Key Amino Acid Residues Involved in the Localization of Sorting Nexin 10 and Induction of Vacuole Formation.
Xiao B et al.
Biochemistry. Biokhimiia, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
The molecular structure and function of sorting nexin 10 in skeletal disorders, cancers, and other pathological conditions.
Xu J et al.
Journal of Cellular Physiology, 2021
Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis.
Elson A et al.
Frontiers in Cell and Developmental Biology, 2021
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
Pangrazio A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
Mégarbané A et al.
European Journal of Medical Genetics, 2013
Snx10: a newly identified locus associated with human osteopetrosis.
Ye L et al.
Ibms Bonekey, 2013
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