[引用][C] SLC26A2 deficiency, matrix stiffness and mechanotransduction linked in osteoporosis
S Onuora - Nature Reviews Rheumatology, 2023 - nature.com
SLC26A2 deficiency, matrix stiffness and mechanotransduction linked in osteoporosis Page 1
nature reviewsrheumatology https://doi.org/10.1038/s41584-023-01041-0 Research highlights …
nature reviewsrheumatology https://doi.org/10.1038/s41584-023-01041-0 Research highlights …
SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis
J Xue, S Ikegawa, L Guo - Bone, 2023 - Elsevier
SLC4A2 belongs to the Na+-independent solute carrier family 4 (SLC4) of anion
exchangers, which regulate electroneutral exchange of Cl− for HCO 3− and mediate intra …
exchangers, which regulate electroneutral exchange of Cl− for HCO 3− and mediate intra …
Targeting sulfation-dependent mechanoreciprocity between matrix and osteoblasts to mitigate bone loss
C Zheng, H Liu, P Zhao, W Lu, S Song, T He… - Science Translational …, 2023 - science.org
Sulfation is a widespread modification of biomolecules that has been incompletely explored
to date. Through cross-phenotype meta-analysis of bone mineral density in up to 426,824 …
to date. Through cross-phenotype meta-analysis of bone mineral density in up to 426,824 …
SLC26A1 is a major determinant of sulfate homeostasis in humans
A Pfau, KI López-Cayuqueo, N Scherer… - The Journal of …, 2023 - Am Soc Clin Investig
Sulfate plays a pivotal role in numerous physiological processes in the human body,
including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for …
including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for …
SLC4A2-mediated Cl−/HCO3− exchange activity is essential for calpain-dependent regulation of the actin cytoskeleton in osteoclasts
F Coury, S Zenger, AK Stewart… - Proceedings of the …, 2013 - National Acad Sciences
Bone remodeling requires osteoclasts to generate and maintain an acidified resorption
compartment between the apical membrane and the bone surface to solubilize …
compartment between the apical membrane and the bone surface to solubilize …
SLC4A2 deficiency causes a new type of osteopetrosis
JY Xue, G Grigelioniene, Z Wang… - Journal of Bone and …, 2020 - academic.oup.com
Osteopetrosis is a group of rare inherited skeletal disorders characterized by a marked
increase in bone density due to deficient bone resorption. Pathogenic variants in several …
increase in bone density due to deficient bone resorption. Pathogenic variants in several …
HCO3−/Cl− anion exchanger SLC4A2 is required for proper osteoclast differentiation and function
J Wu, LH Glimcher… - Proceedings of the …, 2008 - National Acad Sciences
As the only cell capable of bone resorption, the osteoclast is a central mediator of skeletal
homeostasis and disease. To efficiently degrade mineralized tissue, these multinucleated …
homeostasis and disease. To efficiently degrade mineralized tissue, these multinucleated …
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
G Bjornsdottir, L Stefansdottir, G Thorleifsson… - Nature …, 2022 - nature.com
Back pain is a common and debilitating disorder with largely unknown underlying biology.
Here we report a genome-wide association study of back pain using diagnoses assigned in …
Here we report a genome-wide association study of back pain using diagnoses assigned in …
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases
CG Tise, JA Perry, LE Anforth… - G3: Genes …, 2016 - academic.oup.com
Using genomic applications to glean insights into human biology, we systematically
searched for nonsense single nucleotide variants (SNVs) that are rare in the general …
searched for nonsense single nucleotide variants (SNVs) that are rare in the general …
Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis
C Zheng, X Lin, H Liu, W Lu, X Xu, D Wang… - The FASEB …, 2020 - Wiley Online Library
Confusion persists over pathogenesis of spondylolysis. To confirm pathogenicity of the
previously identified causative mutation of spondylolysis and investigate the genetic …
previously identified causative mutation of spondylolysis and investigate the genetic …