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Volumn 52, Issue 3, 2007, Pages 262-270

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients

Author keywords

Consanguinity; Genetic heterogeneity; Haplotype analysis; Imerslund Gr sbeck syndrome; Megaloblastic anaemia; Mutation screening

Indexed keywords

AMNIONLESS PROTEIN; CUBILIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 33847277066     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0110-0     Document Type: Article
Times cited : (20)

References (42)
  • 1
    • 0025918343 scopus 로고
    • Imerslund-Grasbeck syndrome in a Saudi family
    • Abdelaal MA, Ahmed AF (1991) Imerslund-Grasbeck syndrome in a Saudi family. Acta Paediatr Scand 80:1109-1112
    • (1991) Acta Paediatr Scand , vol.80 , pp. 1109-1112
    • Abdelaal, M.A.1    Ahmed, A.F.2
  • 2
    • 0036816415 scopus 로고    scopus 로고
    • Linkage analysis of a large inbred family with congenital megaloblastic anemia
    • Al-Alami JR, Tayeh MK, Al-Sheyyab MY, El-Shanti HI (2002) Linkage analysis of a large inbred family with congenital megaloblastic anemia. Saudi Med J 23:1251-1256
    • (2002) Saudi Med J , vol.23 , pp. 1251-1256
    • Al-Alami, J.R.1    Tayeh, M.K.2    Al-Sheyyab, M.Y.3    El-Shanti, H.I.4
  • 3
    • 0028888893 scopus 로고
    • Familial selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) in a pool of Turkish patients
    • Altay C, Cetin M, Gumruk F, Irken G, Yetgin S, Laleli Y (1995) Familial selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) in a pool of Turkish patients. Pediatr Hematol Oncol 12:19-28
    • (1995) Pediatr Hematol Oncol , vol.12 , pp. 19-28
    • Altay, C.1    Cetin, M.2    Gumruk, F.3    Irken, G.4    Yetgin, S.5    Laleli, Y.6
  • 4
    • 0029101674 scopus 로고
    • Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: Assignment of a locus to chromosome 10 by linkage
    • Aminoff M, Tahvanainen E, Grasbeck R, Weissenbach J, Broch H, de la Chapelle A (1995) Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 57:824-831
    • (1995) Am J Hum Genet , vol.57 , pp. 824-831
    • Aminoff, M.1    Tahvanainen, E.2    Grasbeck, R.3    Weissenbach, J.4    Broch, H.5    de la Chapelle, A.6
  • 6
    • 0014457630 scopus 로고
    • Selective vitamin B 12 malabsorption with proteinuria in Israel: Clinical and genetic aspects
    • Ben-Bassat I, Feinstein A, Ramot B (1969) Selective vitamin B 12 malabsorption with proteinuria in Israel: clinical and genetic aspects. Isr J Med Sci 5:62-68
    • (1969) Isr J Med Sci , vol.5 , pp. 62-68
    • Ben-Bassat, I.1    Feinstein, A.2    Ramot, B.3
  • 8
    • 0031576218 scopus 로고    scopus 로고
    • Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein
    • Birn H, Verroust PJ, Nexo E, Hager H, Jacobsen C, Christensen EI, Moestrup SK (1997) Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein. J Biol Chem 272:26497-26504
    • (1997) J Biol Chem , vol.272 , pp. 26497-26504
    • Birn, H.1    Verroust, P.J.2    Nexo, E.3    Hager, H.4    Jacobsen, C.5    Christensen, E.I.6    Moestrup, S.K.7
  • 11
    • 0021866420 scopus 로고
    • Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria)
    • Burman JF, Jenkins WJ, Walker-Smith JA, Phillips AD, Sourial NA, Williams CB, Mollin DL (1985) Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria). Gut 26:311-314
    • (1985) Gut , vol.26 , pp. 311-314
    • Burman, J.F.1    Jenkins, W.J.2    Walker-Smith, J.A.3    Phillips, A.D.4    Sourial, N.A.5    Williams, C.B.6    Mollin, D.L.7
  • 12
    • 0019444602 scopus 로고
    • Failure to thrive associated with the Imerslund-Grasbeck syndrome
    • Campbell AN, Inglis J, Paynter AS (1981) Failure to thrive associated with the Imerslund-Grasbeck syndrome. Postgrad Med J 57:509-510
    • (1981) Postgrad Med J , vol.57 , pp. 509-510
    • Campbell, A.N.1    Inglis, J.2    Paynter, A.S.3
  • 14
    • 0030471488 scopus 로고    scopus 로고
    • A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome
    • Celep F, Karaguzel A, Aynaci FM, Erduran E (1996) A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. Clin Genet 50:248-250
    • (1996) Clin Genet , vol.50 , pp. 248-250
    • Celep, F.1    Karaguzel, A.2    Aynaci, F.M.3    Erduran, E.4
  • 16
    • 84984766757 scopus 로고    scopus 로고
    • Megalin and cubilin: Multifunctional endocytic receptors
    • Christensen EI, Birn H (2002) Megalin and cubilin: multifunctional endocytic receptors. Nat Rev Mol Cell Biol 3:256-266
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 256-266
    • Christensen, E.I.1    Birn, H.2
  • 19
    • 0037094077 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guerin infection
    • Elloumi-Zghal H, Barbouche MR, Chemli J, Bejaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K (2002) Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guerin infection. J Infect Dis 185:1468-1475
    • (2002) J Infect Dis , vol.185 , pp. 1468-1475
    • Elloumi-Zghal, H.1    Barbouche, M.R.2    Chemli, J.3    Bejaoui, M.4    Harbi, A.5    Snoussi, N.6    Abdelhak, S.7    Dellagi, K.8
  • 22
    • 0015514085 scopus 로고
    • Familial selective vitamin B 12 malabsorption
    • Gräsbeck R (1972) Familial selective vitamin B 12 malabsorption. N Engl J Med 287:358
    • (1972) N Engl J Med , vol.287 , pp. 358
    • Gräsbeck, R.1
  • 23
    • 0001601083 scopus 로고
    • Selective vitamin B12 malabsorption and proteinuria in young people
    • Gräsbeck R, Gordin R, Kantero I, Kuhlback B (1960) Selective vitamin B12 malabsorption and proteinuria in young people. Acta Med Scand 167:289-296
    • (1960) Acta Med Scand , vol.167 , pp. 289-296
    • Gräsbeck, R.1    Gordin, R.2    Kantero, I.3    Kuhlback, B.4
  • 24
    • 0026521157 scopus 로고
    • A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers
    • Hazan J, Dubay C, Pankowiak MP, Becuwe N, Weissenbach J (1992) A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics 12:183-189
    • (1992) Genomics , vol.12 , pp. 183-189
    • Hazan, J.1    Dubay, C.2    Pankowiak, M.P.3    Becuwe, N.4    Weissenbach, J.5
  • 25
    • 72849184034 scopus 로고
    • Idiopathic chronic megaloblastic anemia in children
    • Imerslund O (1960) Idiopathic chronic megaloblastic anemia in children. Acta Paediatr 49:1-115
    • (1960) Acta Paediatr , vol.49 , pp. 1-115
    • Imerslund, O.1
  • 26
    • 0030890829 scopus 로고    scopus 로고
    • Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families
    • Ismail EA, Al Saleh Q, Sabry MA, Al Ghanim M, Zaki M (1997) Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families. Acta Paediatr 86:424-425
    • (1997) Acta Paediatr , vol.86 , pp. 424-425
    • Ismail, E.A.1    Al Saleh, Q.2    Sabry, M.A.3    Al Ghanim, M.4    Zaki, M.5
  • 27
    • 0032525203 scopus 로고    scopus 로고
    • The human intrinsic factor-vitamin B12 receptor, cubilin: Molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region
    • Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK (1998) The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. Blood 91:3593-3600
    • (1998) Blood , vol.91 , pp. 3593-3600
    • Kozyraki, R.1    Kristiansen, M.2    Silahtaroglu, A.3    Hansen, C.4    Jacobsen, C.5    Tommerup, N.6    Verroust, P.J.7    Moestrup, S.K.8
  • 28
    • 0033575195 scopus 로고    scopus 로고
    • Molecular dissection of the intrinsic factor-vitamin B12 receptor, cubilin, discloses regions important for membrane association and ligand binding
    • Kristiansen M, Kozyraki R, Jacobsen C, Nexo E, Verroust PJ, Moestrup SK (1999) Molecular dissection of the intrinsic factor-vitamin B12 receptor, cubilin, discloses regions important for membrane association and ligand binding. J Biol Chem 274:20540-20544
    • (1999) J Biol Chem , vol.274 , pp. 20540-20544
    • Kristiansen, M.1    Kozyraki, R.2    Jacobsen, C.3    Nexo, E.4    Verroust, P.J.5    Moestrup, S.K.6
  • 29
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 32
    • 0025742863 scopus 로고
    • Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome
    • Salameh MM, Banda RW, Mohdi AA (1991) Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. J Neurol 238:349-350
    • (1991) J Neurol , vol.238 , pp. 349-350
    • Salameh, M.M.1    Banda, R.W.2    Mohdi, A.A.3
  • 34
    • 0001227554 scopus 로고
    • Intrinsic factor studies II. The effect of gastric juice on the urinary excretion of radioactivity after the oral administration of radioactive vitamin B12
    • Schilling RF (1953) Intrinsic factor studies II. The effect of gastric juice on the urinary excretion of radioactivity after the oral administration of radioactive vitamin B12. J Lab Clin Med 42:860-866
    • (1953) J Lab Clin Med , vol.42 , pp. 860-866
    • Schilling, R.F.1
  • 35
    • 0001395571 scopus 로고
    • testing for heterogeneity of recombination fraction values in human genetics
    • Smith CA (1963) testing for heterogeneity of recombination fraction values in human genetics. Ann Hum Genet 27:175-182
    • (1963) Ann Hum Genet , vol.27 , pp. 175-182
    • Smith, C.A.1
  • 41
    • 0035977017 scopus 로고    scopus 로고
    • Identification and characterization of two distinct ligand binding regions of cubilin
    • Yammani RR, Seetharam S, Seetharam B (2001) Identification and characterization of two distinct ligand binding regions of cubilin. J Biol Chem 276:44777-44784
    • (2001) J Biol Chem , vol.276 , pp. 44777-44784
    • Yammani, R.R.1    Seetharam, S.2    Seetharam, B.3
  • 42
    • 0020786611 scopus 로고
    • Imerslund-Grasbeck syndrome and generalized malabsorption
    • Yetgin S, Ozsoylu S, Zamani VP (1983) Imerslund-Grasbeck syndrome and generalized malabsorption. Turk J Pediatr 25:193-196
    • (1983) Turk J Pediatr , vol.25 , pp. 193-196
    • Yetgin, S.1    Ozsoylu, S.2    Zamani, V.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.