메뉴 건너뛰기




Volumn 43, Issue 7, 2003, Pages 928-938

Mcleod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; DNA; GLYCOPROTEIN; PROTEIN; RNA; UNCLASSIFIED DRUG; XK PROTEIN;

EID: 0038307154     PISSN: 00411132     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1537-2995.2003.t01-1-00434.x     Document Type: Article
Times cited : (38)

References (37)
  • 1
    • 0000185540 scopus 로고
    • «New» clinical features of McLeod syndrome
    • Schwartz SA, Marsh WL, Symmans A, et al. «New» clinical features of McLeod syndrome. Transfusion 1982;22:404.
    • (1982) Transfusion , vol.22 , pp. 404
    • Schwartz, S.A.1    Marsh, W.L.2    Symmans, A.3
  • 2
    • 0026073577 scopus 로고
    • Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
    • Hardie RJ, Pullon HW, Harding AE, et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 1991;114:13-49.
    • (1991) Brain , vol.114 , pp. 13-49
    • Hardie, R.J.1    Pullon, H.W.2    Harding, A.E.3
  • 3
    • 0035095437 scopus 로고    scopus 로고
    • McLeod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings
    • Jung HH, Hergersberg M, Kneifel S, et al. McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 2001;49:384-92.
    • (2001) Ann Neurol , vol.49 , pp. 384-392
    • Jung, H.H.1    Hergersberg, M.2    Kneifel, S.3
  • 4
    • 0035202829 scopus 로고    scopus 로고
    • McLeod neuroacanthocytosis: Genotype and phenotype
    • Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001;50:755-64.
    • (2001) Ann Neurol , vol.50 , pp. 755-764
    • Danek, A.1    Rubio, J.P.2    Rampoldi, L.3
  • 5
    • 0001216951 scopus 로고
    • A new phenotype (McLeod) in the Kell blood-group system
    • Allen FH, Krabbe SMR, Corcoran PA. A new phenotype (McLeod) in the Kell blood-group system. Vox Sang 1961;6:555-60.
    • (1961) Vox Sang , vol.6 , pp. 555-560
    • Allen, F.H.1    Krabbe, S.M.R.2    Corcoran, P.A.3
  • 6
    • 0001573557 scopus 로고
    • Kx antigen of the Kell system and its relationship to chronic granulomatous disease. Evidence the Kx gene is X-linked
    • Marsh WL, Taswell HF, Oyen R, et al. Kx antigen of the Kell system and its relationship to chronic granulomatous disease. Evidence the Kx gene is X-linked. Transfusion 1975;15:527.
    • (1975) Transfusion , vol.15 , pp. 527
    • Marsh, W.L.1    Taswell, H.F.2    Oyen, R.3
  • 7
    • 0017714137 scopus 로고
    • Haematological changes associated with the McLeod phenotype of the Kell blood group system
    • Wimer BM, Marsh WL, Taswell HF, et al. Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 1977;36:219-24.
    • (1977) Br J Haematol , vol.36 , pp. 219-224
    • Wimer, B.M.1    Marsh, W.L.2    Taswell, H.F.3
  • 8
    • 0020516749 scopus 로고
    • Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy
    • Swash M, Schwartz MS, Carter ND, et al. Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. Brain 1983;106:717-33.
    • (1983) Brain , vol.106 , pp. 717-733
    • Swash, M.1    Schwartz, M.S.2    Carter, N.D.3
  • 9
    • 0028263898 scopus 로고
    • Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
    • Ho M, Chelly J, Carter N, et al. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 1994;77:869-80.
    • (1994) Cell , vol.77 , pp. 869-880
    • Ho, M.1    Chelly, J.2    Carter, N.3
  • 10
    • 0032577460 scopus 로고    scopus 로고
    • Association of XK and Kell blood group proteins
    • Russo D, Redman C, Lee S. Association of XK and Kell blood group proteins. J Biol Chem 1998;273:13950-6.
    • (1998) J Biol Chem , vol.273 , pp. 13950-13956
    • Russo, D.1    Redman, C.2    Lee, S.3
  • 11
    • 0034235469 scopus 로고    scopus 로고
    • Expression of Kell blood group protein in nonerythroid tissues
    • Russo D, Wu X, Redman CM, et al. Expression of Kell blood group protein in nonerythroid tissues. Blood 2000;96:340-6.
    • (2000) Blood , vol.96 , pp. 340-346
    • Russo, D.1    Wu, X.2    Redman, C.M.3
  • 12
    • 0034803758 scopus 로고    scopus 로고
    • Kell and XK immunohistochemistry in McLeod myopathy
    • Jung HH, Russo D, Redman C, et al. Kell and XK immunohistochemistry in McLeod myopathy. Muscle Nerve 2001;24:1346-51.
    • (2001) Muscle Nerve , vol.24 , pp. 1346-1351
    • Jung, H.H.1    Russo, D.2    Redman, C.3
  • 13
    • 0033680282 scopus 로고    scopus 로고
    • The ced-8 gene controls the timing of programmed cell deaths in C
    • Stanfield GM, Horvitz HR. The ced-8 gene controls the timing of programmed cell deaths in C. Elegans Mol Cell 2000;5:423-33.
    • (2000) Elegans Mol Cell , vol.5 , pp. 423-433
    • Stanfield, G.M.1    Horvitz, H.R.2
  • 14
    • 0033566651 scopus 로고    scopus 로고
    • Proteolytic processing of big endothelin-3 by the kell blood group protein
    • Lee S, Lin M, Mele A, et al. Proteolytic processing of big endothelin-3 by the kell blood group protein. Blood 1999;94:1440-50.
    • (1999) Blood , vol.94 , pp. 1440-1450
    • Lee, S.1    Lin, M.2    Mele, A.3
  • 15
    • 0029928980 scopus 로고    scopus 로고
    • A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis
    • Ho MF, Chalmers RM, Davis MB, et al. A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 1996;39:672-5.
    • (1996) Ann Neurol , vol.39 , pp. 672-675
    • Ho, M.F.1    Chalmers, R.M.2    Davis, M.B.3
  • 16
    • 0035726011 scopus 로고    scopus 로고
    • A spontaneous novel XK gene mutation in a patient with McLeod syndrome
    • Supple SG, Iland HJ, Barnett MH, et al. A spontaneous novel XK gene mutation in a patient with McLeod syndrome. Br J Haematol 2001;115:369-72.
    • (2001) Br J Haematol , vol.115 , pp. 369-372
    • Supple, S.G.1    Iland, H.J.2    Barnett, M.H.3
  • 17
    • 0036519357 scopus 로고    scopus 로고
    • Point mutations causing the McLeod phenotype
    • Russo DC, Lee S, Reid ME, et al. Point mutations causing the McLeod phenotype. Transfusion 2002;42:287-93.
    • (2002) Transfusion , vol.42 , pp. 287-293
    • Russo, D.C.1    Lee, S.2    Reid, M.E.3
  • 18
    • 0026095854 scopus 로고
    • Diagnostic tests for choreoacanthocytosis
    • Feinberg TE, Cianci CD, Morrow JS, et al. Diagnostic tests for choreoacanthocytosis. Neurology 1991;41:1000-6.
    • (1991) Neurology , vol.41 , pp. 1000-1006
    • Feinberg, T.E.1    Cianci, C.D.2    Morrow, J.S.3
  • 19
    • 0028936247 scopus 로고
    • Molecular basis of the Kell (K1) phenotype
    • Lee S, Wu X, Reid M, et al. Molecular basis of the Kell (K1) phenotype. Blood 1995;85:912-6.
    • (1995) Blood , vol.85 , pp. 912-916
    • Lee, S.1    Wu, X.2    Reid, M.3
  • 21
    • 0031596317 scopus 로고    scopus 로고
    • PET with 18fluorodeoxyglucose and hexamethylpropylene amine oxime SPECT in late whiplash syndrome
    • Bicik I, Radanov BP, Schafer N, et al. PET with 18fluorodeoxyglucose and hexamethylpropylene amine oxime SPECT in late whiplash syndrome. Neurology 1998;51:345-50.
    • (1998) Neurology , vol.51 , pp. 345-350
    • Bicik, I.1    Radanov, B.P.2    Schafer, N.3
  • 22
    • 80051735095 scopus 로고    scopus 로고
    • A JAVA environment for medical image data analysis: Initial application for brain PET quantitation
    • Mikolajczyk K, Szabatin M, Rudnicki P, et al. A JAVA environment for medical image data analysis: initial application for brain PET quantitation. Med Inform (Lond) 1998;23:207-14.
    • (1998) Med Inform (Lond) , vol.23 , pp. 207-214
    • Mikolajczyk, K.1    Szabatin, M.2    Rudnicki, P.3
  • 23
    • 0006775112 scopus 로고
    • Unusual presentation of a McLeod individual
    • Pehta J, Panesar N, Huima T, et al. Unusual presentation of a McLeod individual. Transfusion 1992;32:19S.
    • (1992) Transfusion , vol.32
    • Pehta, J.1    Panesar, N.2    Huima, T.3
  • 24
    • 0034031642 scopus 로고    scopus 로고
    • Functional and structural aspects of the Kell blood group system
    • Lee S, Russo D, Redman C. Functional and structural aspects of the Kell blood group system. Transfus Med Rev 2000;14:93-103.
    • (2000) Transfus Med Rev , vol.14 , pp. 93-103
    • Lee, S.1    Russo, D.2    Redman, C.3
  • 25
    • 0018774653 scopus 로고
    • Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system
    • Symmans WA, Shepherd CS, Marsh WL, et al. Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 1979;42:575-83.
    • (1979) Br J Haematol , vol.42 , pp. 575-583
    • Symmans, W.A.1    Shepherd, C.S.2    Marsh, W.L.3
  • 26
    • 0023910762 scopus 로고
    • Localization of the McLeod locus (XK) within Xp21 by deletion analysis
    • Bertelson CJ, Pogo AO, Chaudhuri A, et al. Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet 1988;42:703-11.
    • (1988) Am J Hum Genet , vol.42 , pp. 703-711
    • Bertelson, C.J.1    Pogo, A.O.2    Chaudhuri, A.3
  • 27
    • 0019466439 scopus 로고
    • Elevated serum creatine phosphokinase in subjects with McLeod syndrome
    • Marsh WL, Marsh NJ, Moore A, et al. Elevated serum creatine phosphokinase in subjects with McLeod syndrome. Vox Sang 1981;40:403-11.
    • (1981) Vox Sang , vol.40 , pp. 403-411
    • Marsh, W.L.1    Marsh, N.J.2    Moore, A.3
  • 28
    • 0026781027 scopus 로고
    • McLeod syndrome: A distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations
    • Witt TN, Danek A, Reiter M, et al. McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol 1992;239:302-6.
    • (1992) J Neurol , vol.239 , pp. 302-306
    • Witt, T.N.1    Danek, A.2    Reiter, M.3
  • 29
    • 0035056963 scopus 로고    scopus 로고
    • Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis
    • Oechsner M, Buchert R, Beyer W, et al. Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. J Neurol Neurosurg Psychiatry 2001;70:517-20.
    • (2001) J Neurol Neurosurg Psychiatry , vol.70 , pp. 517-520
    • Oechsner, M.1    Buchert, R.2    Beyer, W.3
  • 30
    • 0029826394 scopus 로고    scopus 로고
    • A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells
    • Daniels GL, Weinauer F, Stone C, et al. A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells. Blood 1996;88:4045-50.
    • (1996) Blood , vol.88 , pp. 4045-4050
    • Daniels, G.L.1    Weinauer, F.2    Stone, C.3
  • 31
    • 0033137122 scopus 로고    scopus 로고
    • A novel frameshift mutation in the McLeod syndrome gene in a Japanese family
    • Hanaoka N, Yoshida K, Nakamura A, et al. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. J Neurol Sci 1999;165:6-9.
    • (1999) J Neurol Sci , vol.165 , pp. 6-9
    • Hanaoka, N.1    Yoshida, K.2    Nakamura, A.3
  • 32
    • 0034659180 scopus 로고    scopus 로고
    • A novel mutation of the McLeod syndrome gene in a Japanese family
    • Ueyama H, Kumamoto T, Nagao S, et al. A novel mutation of the McLeod syndrome gene in a Japanese family. J Neurol Sci 2000;176:151-4.
    • (2000) J Neurol Sci , vol.176 , pp. 151-154
    • Ueyama, H.1    Kumamoto, T.2    Nagao, S.3
  • 33
    • 0034081001 scopus 로고    scopus 로고
    • The Kell blood group system. Kell and XK membrane proteins
    • Lee S, Russo D, Redman CM. The Kell blood group system. Kell and XK membrane proteins. Semin Hematol 2000;37:113-21.
    • (2000) Semin Hematol , vol.37 , pp. 113-121
    • Lee, S.1    Russo, D.2    Redman, C.M.3
  • 34
    • 0028833739 scopus 로고
    • NMDA receptor involvement in endothelin neurotoxicity in rat striatal slices
    • Kataoka Y, Koizumi S, Kohzuma M, et al. NMDA receptor involvement in endothelin neurotoxicity in rat striatal slices. Eur J Pharmacol 1995;273:285-9.
    • (1995) Eur J Pharmacol , vol.273 , pp. 285-289
    • Kataoka, Y.1    Koizumi, S.2    Kohzuma, M.3
  • 35
    • 0033405717 scopus 로고    scopus 로고
    • Endothelin b receptor deficiency is associated with an increased rate of neuronal apoptosis in the dentate gyrus
    • Ehrenreich H, Nau TR, Dembowski C, et al. Endothelin b receptor deficiency is associated with an increased rate of neuronal apoptosis in the dentate gyrus. Neuroscience 2000;95:993-1001.
    • (2000) Neuroscience , vol.95 , pp. 993-1001
    • Ehrenreich, H.1    Nau, T.R.2    Dembowski, C.3
  • 36
    • 0034731370 scopus 로고    scopus 로고
    • Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain
    • Hackam AS, Yassa AS, Singaraja R, et al. Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. J Biol Chem 2000;275:41299-308.
    • (2000) J Biol Chem , vol.275 , pp. 41299-41308
    • Hackam, A.S.1    Yassa, A.S.2    Singaraja, R.3
  • 37
    • 0036173770 scopus 로고    scopus 로고
    • Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi
    • Gervais FG, Singaraja R, Xanthoudakis S, et al. Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nat Cell Biol 2002;4:95-105.
    • (2002) Nat Cell Biol , vol.4 , pp. 95-105
    • Gervais, F.G.1    Singaraja, R.2    Xanthoudakis, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.