… for osteoclasts in patients with the Arg51Gln mutated SNX10 10 and … mutation results in
decreased osteoclast formation and decreased osteoclast activity, whereas the SNX10 mutation …

… by mutations in SNX10 and in other genes, which suggest that mutations in the known
ARO-associated genes act … of a mutant of SNX10 that is associated with the genetic disease ARO. …

… genes, PLEKHM1 and SNX10, that can upon genetic variation result in other autosomal
recessive forms of osteopetrosis (… the subosteoclastic region and dysfunctional bone resorption. …

… bone mass due to defects in osteoclast function or formation, leading to fractures, generalized
… mutation in the SNX10 gene causing activation of a hidden splicing site in intron 4, leading …

… A key feature among these is massive, early-onset, and widespread osteopetrosis that is
caused by dysfunctional OCLs. Additional similarities include the “Erlenmeyer flask” shape of …

… absence of osteoclasts in SNX10-deficient ARO, Stattin and colleagues clearly demonstrated
no defect in osteoclast … On the other hand, whether in humans SNX10 inactivation leads to …

… Recently, a missense mutation in the gene encoding sorting nexin 10 (SNX10 [MIM614780])
was … Since then, different mutations in the SNX10 gene have been reported in osteopetrosis …

… SNX10-dependent osteopetrosis was reported to show few and small osteoclasts (30), while
in a more recent paper SNX10… of osteopetrotic forms are caused by osteoclast dysfunction, …

… mutations in SNX10 mutation manifest a phenotype of autosomal recessive osteopetrosis or
malignant infantile osteopetrosis, … on the role of SNX10 in ARO including osteoclastic bone …

… SNX10 mutation, we inserted this mutation into exon 4 of the endogenous Snx10 gene …
early-onset, and widespread osteopetrosis that is caused by dysfunctional OCLs. Additional …