메뉴 건너뛰기




Volumn 25, Issue 11, 2010, Pages 2515-2526

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

Author keywords

acid phosphatase; aldolase; bisphosphonate; brain; carbonic anhydrase II deficiency; creatine kinase; enzymopathy; liver disease; muscle; osteoclast; osteosclerosis

Indexed keywords

ASPARTATE AMINOTRANSFERASE; BISPHOSPHONIC ACID DERIVATIVE; FRUCTOSE BISPHOSPHATE ALDOLASE; ISOENZYME; LACTATE DEHYDROGENASE;

EID: 78349278017     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.130     Document Type: Article
Times cited : (40)

References (59)
  • 2
    • 84889420953 scopus 로고    scopus 로고
    • Sclerosing bone disorders
    • Rosen C.J., et al., eds., 7th ed. Washington, DC: American Society for Bone and Mineral Research
    • Whyte MP,. Sclerosing bone disorders. In:, Rosen CJ, et al., eds. Primer on Metabolic Bone Diseases and Disorders of Mineral Metabolism, 7th ed. Washington, DC: American Society for Bone and Mineral Research; 2006: 412 -423.
    • (2006) Primer on Metabolic Bone Diseases and Disorders of Mineral Metabolism , pp. 412-423
    • Whyte, M.P.1
  • 3
    • 0023179266 scopus 로고
    • Osteopetrosis: Multiple pathways for the interception of osteoclast function
    • Marks SC Jr., Osteopetrosis: multiple pathways for the interception of osteoclast function. Appl Pathol. 1987; 5: 172 -183.
    • (1987) Appl Pathol , vol.5 , pp. 172-83
    • Marks, Jr.S.C.1
  • 4
    • 28244466312 scopus 로고    scopus 로고
    • A clinical and molecular overview of the human osteopetroses
    • Balemans W, Van Wesenbeeck L, Van Hul W,. A clinical and molecular overview of the human osteopetroses. Calcif Tissue Int. 2005; 77: 263 -274.
    • (2005) Calcif Tissue Int , vol.77 , pp. 263-74
    • Balemans, W.1    Van Wesenbeeck, L.2    Van Hul, W.3
  • 5
    • 34547521058 scopus 로고    scopus 로고
    • Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
    • Sobacchi C, Frattini A, Guerrini MM, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 2007; 39: 960 -962.
    • (2007) Nat Genet , vol.39 , pp. 960-962
    • Sobacchi, C.1    Frattini, A.2    Guerrini, M.M.3
  • 6
    • 46349084493 scopus 로고    scopus 로고
    • Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
    • Guerrini MM, Sobacchi C, Cassani B, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008; 83: 64 -76.
    • (2008) Am J Hum Genet , vol.83 , pp. 64-76
    • Guerrini, M.M.1    Sobacchi, C.2    Cassani, B.3
  • 7
    • 33645789497 scopus 로고    scopus 로고
    • Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: Implications for diagnosis and treatment
    • Del Fattore A, Peruzzi B, Rucci N, et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: Implications for diagnosis and treatment. J Med Genet. 2006; 43: 315 -325.
    • (2006) J Med Genet , vol.43 , pp. 315-325
    • Del Fattore, A.1    Peruzzi, B.2    Rucci, N.3
  • 9
    • 0029782606 scopus 로고    scopus 로고
    • Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders
    • Whyte MP, Chines A, Silva DP, Landt Y, Ladenson JH,. Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders. J Bone Miner Res. 1996; 11: 1438 -1443.
    • (1996) J Bone Miner Res , vol.11 , pp. 1438-443
    • Whyte, M.P.1    Chines, A.2    Silva, D.P.3    Landt, Y.4    Ladenson, J.H.5
  • 10
    • 2142810972 scopus 로고    scopus 로고
    • Osteoclast derived serum tartrate resistant acid phosphatase 5B in Albers-Schönberg disease (type II autosomal dominant osteopetrosis)
    • Alatalo SL, Ivaska KK, Waguespack SG, Econs MJ, Vnänen HK, Halleen JM,. Osteoclast derived serum tartrate resistant acid phosphatase 5B in Albers-Schönberg disease (type II autosomal dominant osteopetrosis). Clin Chem. 2004; 50: 883 -890.
    • (2004) Clin Chem , vol.50 , pp. 883-90
    • Alatalo, S.L.1    Ivaska, K.K.2    Waguespack, S.G.3    Econs, M.J.4    Vnänen, H.K.5    Halleen, J.M.6
  • 11
    • 0036090343 scopus 로고    scopus 로고
    • Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers
    • Waguespack SG, Hui SL, White KE, Buckwalter KA, Econs MJ,. Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers. J Clin Endocrinol Metab. 2002; 87: 2212 -2217.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2212-217
    • Waguespack, S.G.1    Hui, S.L.2    White, K.E.3    Buckwalter, K.A.4    Econs, M.J.5
  • 12
    • 78349254686 scopus 로고
    • Burtis C.A., Ashwood E.R. (eds)., 2nd ed. Philadelphia, PA: WB Saunders Company
    • Burtis CA, Ashwood ER, (eds). Tietz Textbook of Clinical Chemistry, 2nd ed. Philadelphia, PA: WB Saunders Company; 1994: 812 -819.
    • (1994) Tietz Textbook of Clinical Chemistry , pp. 812-819
  • 13
    • 0037402916 scopus 로고    scopus 로고
    • Evaluation of the Dade Behring Dimension RxL: Integrated chemistry system-pediatric reference ranges
    • Ghoshal AK, Soldin SJ,. Evaluation of the Dade Behring Dimension RxL: Integrated chemistry system-pediatric reference ranges. Clin Chim Acta. 2003; 331: 135 -146.
    • (2003) Clin Chim Acta , vol.331 , pp. 135-46
    • Ghoshal, A.K.1    Soldin, S.J.2
  • 14
    • 18244389008 scopus 로고    scopus 로고
    • Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
    • Cleiren E, Bénichou O, Van Hul E, et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Molec Genet. 2001; 10: 2861 -2867.
    • (2001) Hum Molec Genet , vol.10 , pp. 2861-2867
    • Cleiren, E.1    Bénichou, O.2    Van Hul, E.3
  • 15
    • 1942479149 scopus 로고    scopus 로고
    • Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, Type II
    • Waguespack SG, Koller DL, White KE, et al. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, Type II. J Bone Miner Res. 2003; 18: 1513 -1518.
    • (2003) J Bone Miner Res , vol.18 , pp. 1513-1518
    • Waguespack, S.G.1    Koller, D.L.2    White, K.E.3
  • 16
    • 0018886806 scopus 로고
    • Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters
    • Whyte MP, Murphy WA, Fallon MD, et al. Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters. Am J Med. 1980; 69: 64 -74.
    • (1980) Am J Med , vol.69 , pp. 64-74
    • Whyte, M.P.1    Murphy, W.A.2    Fallon, M.D.3
  • 17
    • 0021877714 scopus 로고
    • Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
    • Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. New Engl J Med. 1985; 313: 139 -145.
    • (1985) New Engl J Med , vol.313 , pp. 139-145
    • Sly, W.S.1    Whyte, M.P.2    Sundaram, V.3
  • 18
    • 52949116400 scopus 로고    scopus 로고
    • Bisphosphonate-induced osteopetrosis: Novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases
    • Whyte MP, McAlister WH, Novack DV, Clements KL, Schoenecker PL, Wenkert D,. Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. J Bone Miner Res. 2008; 23: 1698 -1707.
    • (2008) J Bone Miner Res , vol.23 , pp. 1698-707
    • Whyte, M.P.1    McAlister, W.H.2    Novack, D.V.3    Clements, K.L.4    Schoenecker, P.L.5    Wenkert, D.6
  • 19
    • 0033793009 scopus 로고    scopus 로고
    • Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification
    • Eddy MC, Jan De Beur SM, Yandow SM, et al. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res. 2000; 15: 2074 -2083.
    • (2000) J Bone Miner Res , vol.15 , pp. 2074-2083
    • Eddy, M.C.1    Jan De Beur, S.M.2    Yandow, S.M.3
  • 20
    • 78349245880 scopus 로고    scopus 로고
    • Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review
    • Whyte MP, Wenkert D, McAlister WH, Novack D, Nenninger AR, Mumm S,. Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review. J Bone Miner Res. 2010; 25: 2527 -2539.
    • (2010) J Bone Miner Res , vol.25 , pp. 2527-539
    • Whyte, M.P.1    Wenkert, D.2    McAlister, W.H.3    Novack, D.4    Nenninger, A.R.5    Mumm, S.6
  • 22
    • 33846484226 scopus 로고    scopus 로고
    • Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis
    • Mumm S, Wenkert D, Zhang X, McAlister WH, Mier R, Whyte MP,. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. J Bone Miner Res. 2007; 22: 243 -250.
    • (2007) J Bone Miner Res , vol.22 , pp. 243-50
    • Mumm, S.1    Wenkert, D.2    Zhang, X.3    McAlister, W.H.4    Mier, R.5    Whyte, M.P.6
  • 23
    • 0037130183 scopus 로고    scopus 로고
    • Osteoprotegerin deficiency and juvenile Paget's disease
    • Whyte MP, Obrecht SE, Finnegan PM, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002; 347: 174 -184.
    • (2002) N Engl J Med , vol.347 , pp. 174-184
    • Whyte, M.P.1    Obrecht, S.E.2    Finnegan, P.M.3
  • 24
    • 78349300273 scopus 로고    scopus 로고
    • High bone mass disease with fragile dentition in a Kentucky kindred: A new autosomal dominant disorder (abstract)
    • Wenkert D, Mumm S, McAlister WH, Whyte MP,. High bone mass disease with fragile dentition in a Kentucky kindred: a new autosomal dominant disorder (abstract). J Bone Miner Res. 2004; 19: S464.
    • (2004) J Bone Miner Res , vol.19 , pp. 464
    • Wenkert, D.1    Mumm, S.2    McAlister, W.H.3    Whyte, M.P.4
  • 25
    • 78349253897 scopus 로고    scopus 로고
    • A new pediatric sclerosing bone disorder featuring fragility fractures (abstract)
    • Tebben P, Wenkert D, Novack DV, et al. A new pediatric sclerosing bone disorder featuring fragility fractures (abstract). J Bone Miner Res. 2006; 21: S432.
    • (2006) J Bone Miner Res , vol.21 , pp. 432
    • Tebben, P.1    Wenkert, D.2    Novack, D.V.3
  • 29
    • 2342446621 scopus 로고    scopus 로고
    • High-bone-mass disease and LRP5 (letter)
    • Whyte MP, Reinus WR, Mumm S,. High-bone-mass disease and LRP5 (letter). N Engl J Med. 2004; 350: 2096 -2098.
    • (2004) N Engl J Med , vol.350 , pp. 2096-098
    • Whyte, M.P.1    Reinus, W.R.2    Mumm, S.3
  • 30
    • 79955627772 scopus 로고    scopus 로고
    • Camurati-Engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
    • (in press)
    • Whyte MP, Totty WG, Novack DV, Wenkert D, Zhang X, Mumm S,. Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. J Bone Miner Res. (in press).
    • J Bone Miner Res.
    • Whyte, M.P.1    Totty, W.G.2    Novack, D.V.3    Wenkert, D.4    Zhang, X.5    Mumm, S.6
  • 31
    • 84866903543 scopus 로고    scopus 로고
    • Burtis C.A., Ashwood E.R., Bruns D.E. (eds)., 4th ed. St. Louis, MO, USA: WB Saunders Company
    • Burtis CA, Ashwood ER, Bruns DE, (eds). Tietz Textbook of Clinical Chemistry and Molecular Diagnosis, 4th ed. St. Louis, MO, USA: WB Saunders Company; 2006: 1632 -1633.
    • (2006) Tietz Textbook of Clinical Chemistry and Molecular Diagnosis , pp. 1632-1633
  • 32
    • 0000191753 scopus 로고
    • Lactate Dehydrogenase, UV-method with pyruvate and NADH
    • Bergmeyer H.U., Gergmeyer J.B., Grabl M., Moss D.W., eds;, 3rd ed., Vol. Weinheim: Verlag Chemie
    • Vassault A,. Lactate Dehydrogenase, UV-method with pyruvate and NADH, in:, Bergmeyer HU, Gergmeyer JB, Grabl M, Moss DW, eds; Methods in Enzymatic Analysis, 3rd ed., Vol. 3. Weinheim: Verlag Chemie; 1983: 118.
    • (1983) Methods in Enzymatic Analysis , vol.3 , pp. 118
    • Vassault, A.1
  • 33
    • 78349274457 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), Oct 2, 2009. World Wide Web URL
    • Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), Oct 2, 2009. World Wide Web URL
  • 35
    • 0004093728 scopus 로고
    • Henry R.J., Cannon D.C., Winkelman J.W. (eds)., 2nd ed. New York: Harper & Rowe
    • Henry RJ, Cannon DC, Winkelman JW, (eds). Clinical Chemistry: Principles and Technics, 2nd ed. New York: Harper & Rowe; 1974: 819 -834.
    • (1974) Clinical Chemistry: Principles and Technics , pp. 819-834
  • 36
    • 31044433796 scopus 로고    scopus 로고
    • Lactate-a signal coordinating cell and systemic function
    • Philp A, Macdonald AL, Watt PW,. Lactate-a signal coordinating cell and systemic function. J Exp Biol. 2005; 208: 4561 -4575.
    • (2005) J Exp Biol , vol.208 , pp. 4561-575
    • Philp, A.1    MacDonald, A.L.2    Watt, P.W.3
  • 37
    • 0030594816 scopus 로고    scopus 로고
    • Methods for the separation of lactate dehydrogenases and clinical significance of the enzyme
    • Kopperschläger G, Kirchberger J,. Methods for the separation of lactate dehydrogenases and clinical significance of the enzyme. J Chromatogr B Biomed Appl. 1996; 684: 25 -49.
    • (1996) J Chromatogr B Biomed Appl , vol.684 , pp. 25-9
    • Kopperschläger, G.1    Kirchberger, J.2
  • 38
    • 0021163217 scopus 로고
    • Clinical biochemistry of lactate dehydrogenase
    • Skillen AW,. Clinical biochemistry of lactate dehydrogenase. Cell Biochem Funct. 1984; 2: 140 -144.
    • (1984) Cell Biochem Funct , vol.2 , pp. 140-44
    • Skillen, A.W.1
  • 39
    • 0021128897 scopus 로고
    • Lactate dehydrogenase and cell injury
    • Danpure CJ,. Lactate dehydrogenase and cell injury. Cell Biochem Funct. 1984; 2: 144 -148.
    • (1984) Cell Biochem Funct , vol.2 , pp. 144-48
    • Danpure, C.J.1
  • 40
    • 78349264289 scopus 로고    scopus 로고
    • Commission Enzymologie de la Société Francaise de Biologie. Clinique (SFBC) 1982 Ann Biol Clin 40
    • Commission Enzymologie de la Société Francaise de Biologie. Clinique (SFBC) 1982 Ann Biol Clin 40: 163.
  • 41
    • 78349275020 scopus 로고
    • Laktat-Dehydrogenase (LDH) 2-Hydroxybutyrat-Dehydrogenase (HBDH), in Labor and Diagnose-Indikation und Bewertung von Laborbefunden für die medizinische Diagnostik, Die Medizinische Verlagsgesellschaft Margburg, 4. Auflage,; p
    • Thomas L,. Laktat-Dehydrogenase (LDH) 2-Hydroxybutyrat-Dehydrogenase (HBDH), in Labor and Diagnose-Indikation und Bewertung von Laborbefunden für die medizinische Diagnostik, Die Medizinische Verlagsgesellschaft Margburg, 4. Auflage, 1992; p. 136.
    • (1992) , pp. 136
    • Thomas, L.1
  • 42
    • 0023706641 scopus 로고
    • Lactate dehydrogenase isoenzymes
    • Maekawa M,. Lactate dehydrogenase isoenzymes. J Chromatogr. 1988; 429: 373 -398.
    • (1988) J Chromatogr , vol.429 , pp. 373-98
    • Maekawa, M.1
  • 43
    • 0022558780 scopus 로고
    • Other enzymes. Creatinine phosphokinase, lactate dehydrogenase, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, and alkaline phosphatase
    • Bozzuto TM,. Other enzymes. Creatinine phosphokinase, lactate dehydrogenase, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, and alkaline phosphatase. Emerg Med Clin North Am. 1986; 4: 329 -343.
    • (1986) Emerg Med Clin North Am , vol.4 , pp. 329-43
    • Bozzuto, T.M.1
  • 44
    • 0000758497 scopus 로고
    • Röntgenbilder einer seltenen Knochenerkrankung
    • Albers-Schönberg HE,. Röntgenbilder einer seltenen Knochenerkrankung. Munch Med Wochenschr. 1904; 51: 365.
    • (1904) Munch Med Wochenschr , vol.51 , pp. 365
    • Albers-Schönberg, H.E.1
  • 45
    • 0014203330 scopus 로고
    • The marble bone disease of the adult (M. Albers-Schönberg, osteopetrosis)
    • Czitober H, Moser K, Gründig E,. The marble bone disease of the adult (M. Albers-Schönberg, osteopetrosis). Klin Wsch. 1967; 45: 73 -777.
    • (1967) Klin Wsch , vol.45 , pp. 73-77
    • Czitober, H.1    Moser, K.2    Gründig, E.3
  • 46
    • 0014265074 scopus 로고
    • Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form
    • Johnston CC Jr, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP Jr., Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Balt). 1968; 47: 149 -167.
    • (1968) Medicine (Balt) , vol.47 , pp. 149-67
    • Johnston, Jr.C.C.1    Lavy, N.2    Lord, T.3    Vellios, F.4    Merritt, A.D.5    Deiss, Jr.W.P.6
  • 47
    • 0033863565 scopus 로고    scopus 로고
    • Serum creatine kinase isoenzyme BB in mammalian osteopetrosis
    • Bollerslev J, Ueland T, Landaas S, Marks SC Jr., Serum creatine kinase isoenzyme BB in mammalian osteopetrosis. Clin Orthop. 2000; 377: 241 -247.
    • (2000) Clin Orthop , vol.377 , pp. 241-47
    • Bollerslev, J.1    Ueland, T.2    Landaas, S.3    Marks, Jr.S.C.4
  • 48
    • 0023900049 scopus 로고
    • Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis
    • Bollerslev J, Andersen PE Jr., Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 1988; 9: 7 -13.
    • (1988) Bone , vol.9 , pp. 7-3
    • Bollerslev, J.1    Andersen, Jr.P.E.2
  • 49
    • 0842305693 scopus 로고    scopus 로고
    • Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations
    • Letizia C, Taranta A, Migliaccio S, et al. Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. Calcif Tissue Int. 2004; 74: 42 -46.
    • (2004) Calcif Tissue Int , vol.74 , pp. 42-46
    • Letizia, C.1    Taranta, A.2    Migliaccio, S.3
  • 50
    • 19244378305 scopus 로고
    • Cryptogenetic major condensing osteosis associated with a cirrhosis
    • Perrot H, Molinie C, Woehrle R, Thiovolet J,. Cryptogenetic major condensing osteosis associated with a cirrhosis. Lyon Med. 1967; 217: 1237 -1244.
    • (1967) Lyon Med , vol.217 , pp. 1237-244
    • Perrot, H.1    Molinie, C.2    Woehrle, R.3    Thiovolet, J.4
  • 51
    • 0015104987 scopus 로고
    • Portal hypertension in a patient with osteopetrosis. A case report with discussion of the mechanism of portal hypertension
    • Denison EK, Peters RL, Reynolds TB,. Portal hypertension in a patient with osteopetrosis. A case report with discussion of the mechanism of portal hypertension. Arch Intern Med. 1971; 128: 279 -283.
    • (1971) Arch Intern Med , vol.128 , pp. 279-83
    • Denison, E.K.1    Peters, R.L.2    Reynolds, T.B.3
  • 53
    • 33947531662 scopus 로고    scopus 로고
    • Autosomal dominant osteopetrosis: Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation
    • Waguespack SG, Hui SL, Dimeglio LA, Econs MJ,. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab. 2007; 92: 771 -778.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 771-78
    • Waguespack, S.G.1    Hui, S.L.2    Dimeglio, L.A.3    Econs, M.J.4
  • 54
    • 20144387287 scopus 로고    scopus 로고
    • Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
    • Kasper D, Planells-Cases R, Fuhrmann JC, et al. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J. 2005; 24: 1079 -1091.
    • (2005) EMBO J , vol.24 , pp. 1079-1091
    • Kasper, D.1    Planells-Cases, R.2    Fuhrmann, J.C.3
  • 55
    • 0029589606 scopus 로고
    • ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family
    • Brandt S, Jentsch TJ,. ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS. 1995; 377: 15 -20.
    • (1995) FEBS , vol.377 , pp. 15-0
    • Brandt, S.1    Jentsch, T.J.2
  • 56
    • 0035951282 scopus 로고    scopus 로고
    • Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
    • Kornak U, Kasper D, Bösl MR, et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001; 104: 205 -215.
    • (2001) Cell , vol.104 , pp. 205-215
    • Kornak, U.1    Kasper, D.2    Bösl, M.R.3
  • 57
    • 44849107047 scopus 로고    scopus 로고
    • + antiporter ClC-7 is the primary chloride permeation pathway in lysosomes
    • + antiporter ClC-7 is the primary chloride permeation pathway in lysosomes. Nature. 2008; 453: 788 -792.
    • (2008) Nature , vol.453 , pp. 788-92
    • Graves, A.R.1    Curran, P.K.2    Smith, C.L.3    Mindell, J.A.4
  • 58
    • 33644861728 scopus 로고    scopus 로고
    • CIC-7 requires OSTM1 as a beta-subunit to support bone resorption and lysosomal function
    • Lange OF, Wartosch L, Jentsch TJ, Fuhrmann JC,. CIC-7 requires OSTM1 as a beta-subunit to support bone resorption and lysosomal function. Nature. 2006; 440: 220 -223.
    • (2006) Nature , vol.440 , pp. 220-23
    • Lange, O.F.1    Wartosch, L.2    Jentsch, T.J.3    Fuhrmann, J.C.4
  • 59
    • 10744229008 scopus 로고    scopus 로고
    • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
    • Frattini A, Pangrazzio A, Susani L,. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003; 18: 1740 -1747.
    • (2003) J Bone Miner Res , vol.18 , pp. 1740-747
    • Frattini, A.1    Pangrazzio, A.2    Susani, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.