共 172 条
[1]
Frattini A(2003)Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis J Bone Miner Res 18 1740-1747
[2]
Pangrazio A(2004)Prostaglandin E2 activates outwardly rectifying Cl(-) channels via a cAMP-dependent pathway and reduces cell motility in rat osteoclasts Am J Physiol Cell Physiol 287 C114-C124
[3]
Susani L(1994)Outwardly rectifying chloride current in rabbit osteoclasts is activated by hyposmotic stimulation J Physiol 475 377-389
[4]
Sobacchi C(2010)Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations Hum Mutat 31 E1071-E1080
[5]
Mirolo M(2003)Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II J Bone Miner Res 18 1513-1518
[6]
Abinun M(2009)Osteopetrosis Orphanet J Rare Dis 4 5-2526
[7]
Andolina M(2010)Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schonberg disease (chloride channel 7 deficiency osteopetrosis) among the sclerosing bone disorders J Bone Miner Res 25 2515-890
[8]
Flanagan A(2004)Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis) Clin Chem 50 883-1545
[9]
Horwitz EM(2004)Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II Am J Pathol 164 1537-218
[10]
Mihci E(2005)Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations Am J Med Genet A 133A 216-2867