메뉴 건너뛰기




Volumn 9, Issue , 2009, Pages

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

Author keywords

[No Author keywords available]

Indexed keywords

LACTASE;

EID: 72949119022     PISSN: None     EISSN: 1471230X     Source Type: Journal    
DOI: 10.1186/1471-230X-9-8     Document Type: Article
Times cited : (32)

References (24)
  • 1
    • 0014114562 scopus 로고
    • Sugar malabsorption due to deficiencies of disaccharidase activities and of monosaccharide transport
    • 2019782, 4952790, 10.1136/adc.42.224.341
    • Holzel A. Sugar malabsorption due to deficiencies of disaccharidase activities and of monosaccharide transport. Arch Dis Child 1967, 42:341-352. 2019782, 4952790, 10.1136/adc.42.224.341.
    • (1967) Arch Dis Child , vol.42 , pp. 341-352
    • Holzel, A.1
  • 2
    • 0020534236 scopus 로고
    • Congenital lactase deficiency. A clinical study on 16 patients
    • 1627962, 6847226, 10.1136/adc.58.4.246
    • Savilahti E, Launiala K, Kuitunen P. Congenital lactase deficiency. A clinical study on 16 patients. Arch Dis Child 1983, 58:246-252. 1627962, 6847226, 10.1136/adc.58.4.246.
    • (1983) Arch Dis Child , vol.58 , pp. 246-252
    • Savilahti, E.1    Launiala, K.2    Kuitunen, P.3
  • 3
    • 0013905950 scopus 로고
    • Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption
    • 10.1111/j.1651-2227.1966.tb17652.x, 5960340
    • Launiala K, Kuitunen P, Visakorpi JK. Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption. Acta Paediatr Scand 1966, 55:257-263. 10.1111/j.1651-2227.1966.tb17652.x, 5960340.
    • (1966) Acta Paediatr Scand , vol.55 , pp. 257-263
    • Launiala, K.1    Kuitunen, P.2    Visakorpi, J.K.3
  • 4
    • 0015920876 scopus 로고
    • Complete deficiency of brush-border lactase in congenital lactose malabsorption
    • 10.1016/S0140-6736(73)90841-6, 4124820
    • Asp NG, Dahlqvist A, Kuitunen P, Launiala K, Visakorpi JK. Complete deficiency of brush-border lactase in congenital lactose malabsorption. Lancet 1973, 2:329-330. 10.1016/S0140-6736(73)90841-6, 4124820.
    • (1973) Lancet , vol.2 , pp. 329-330
    • Asp, N.G.1    Dahlqvist, A.2    Kuitunen, P.3    Launiala, K.4    Visakorpi, J.K.5
  • 5
    • 1642586712 scopus 로고    scopus 로고
    • Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    • 1377496, 9758622, 10.1086/302064
    • Järvelä I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, Peltonen L. Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am J Hum Genet 1998, 63:1078-1085. 1377496, 9758622, 10.1086/302064.
    • (1998) Am J Hum Genet , vol.63 , pp. 1078-1085
    • Järvelä, I.1    Enattah, N.S.2    Kokkonen, J.3    Varilo, T.4    Savilahti, E.5    Peltonen, L.6
  • 6
    • 84860324317 scopus 로고
    • Genetics and epidemiology of hypolactasia
    • New York: Academic Press, Rotter JI, Samloff IM, Rimoin DL
    • Sahi T. Genetics and epidemiology of hypolactasia. The genetics and heterogeneity of common gastrointestinal disorders 1980, 215-233. New York: Academic Press, Rotter JI, Samloff IM, Rimoin DL.
    • (1980) The genetics and heterogeneity of common gastrointestinal disorders , pp. 215-233
    • Sahi, T.1
  • 7
    • 7244255746 scopus 로고    scopus 로고
    • A genetic test which can be used to diagnose adult-type hypolactasia in children
    • 1774274, 15479673, 10.1136/gut.2004.040048
    • Rasinperä H, Savilahti E, Enattah NS, Kuokkanen M, Tötterman N, Lindahl H, Järvelä I, Kolho KL. A genetic test which can be used to diagnose adult-type hypolactasia in children. Gut 2004, 53:1571-1576. 1774274, 15479673, 10.1136/gut.2004.040048.
    • (2004) Gut , vol.53 , pp. 1571-1576
    • Rasinperä, H.1    Savilahti, E.2    Enattah, N.S.3    Kuokkanen, M.4    Tötterman, N.5    Lindahl, H.6    Järvelä, I.7    Kolho, K.L.8
  • 9
    • 0001036207 scopus 로고
    • Defective lactose absorption causing malnutrition in infancy
    • 10.1016/S0140-6736(59)90710-X, 13665980
    • Holzel A, Schwarz V, Sutcliffe KW. Defective lactose absorption causing malnutrition in infancy. Lancet 1959, 1:1126-1128. 10.1016/S0140-6736(59)90710-X, 13665980.
    • (1959) Lancet , vol.1 , pp. 1126-1128
    • Holzel, A.1    Schwarz, V.2    Sutcliffe, K.W.3
  • 11
    • 0014235959 scopus 로고
    • Assay of intestinal disaccharidases
    • Dahlqvist A. Assay of intestinal disaccharidases. Anal 1968, 22:99-107.
    • (1968) Anal , vol.22 , pp. 99-107
    • Dahlqvist, A.1
  • 12
    • 84887158108 scopus 로고    scopus 로고
    • ClustalW
    • ClustalW. , http://www.ebi.ac.uk/clustalw/
  • 13
    • 84860344870 scopus 로고    scopus 로고
    • Blosum62
    • Blosum62. , http://www.uky.edu/Classes/BIO/520/BIO520WWW/blosum62.htm
  • 14
    • 84860325260 scopus 로고    scopus 로고
    • Polymorphism Phenotyping (PolyPhen)
    • Polymorphism Phenotyping (PolyPhen). , http://coot.embl.de/PolyPhen/
  • 15
    • 84898421201 scopus 로고    scopus 로고
    • Sorting intolerant from tolerant (SIFT)
    • Sorting intolerant from tolerant (SIFT). , http://blocks.fhcrc.org/sift/SIFT.html
  • 16
    • 84860344872 scopus 로고    scopus 로고
    • Panther Position Specific Evolutionary Conservation (PSEC)
    • Panther Position Specific Evolutionary Conservation (PSEC). , http://www.pantherdb.org/tools/csnpScoreForm.jsp
  • 18
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: server and survey
    • 137415, 12202775, 10.1093/nar/gkf493
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900. 137415, 12202775, 10.1093/nar/gkf493.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 20
    • 0024076253 scopus 로고
    • Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme
    • 457059, 2460343
    • Mantei N, Villa M, Enzler T, Wacker H, Boll W, James P, Hunziker W, Semenza G. Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme. EMBO J 1988, 7:2705-2713. 457059, 2460343.
    • (1988) EMBO J , vol.7 , pp. 2705-2713
    • Mantei, N.1    Villa, M.2    Enzler, T.3    Wacker, H.4    Boll, W.5    James, P.6    Hunziker, W.7    Semenza, G.8
  • 21
    • 0032544605 scopus 로고    scopus 로고
    • Intestinal lactase-phlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation
    • 10.1016/S0014-5793(98)01076-X, 9762914
    • Zecca L, Mesonero JE, Stutz A, Poiree JC, Giudicelli J, Cursio R, Gloor SM, Semenza G. Intestinal lactase-phlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation. FEBS Lett 1998, 435:225-228. 10.1016/S0014-5793(98)01076-X, 9762914.
    • (1998) FEBS Lett , vol.435 , pp. 225-228
    • Zecca, L.1    Mesonero, J.E.2    Stutz, A.3    Poiree, J.C.4    Giudicelli, J.5    Cursio, R.6    Gloor, S.M.7    Semenza, G.8
  • 22
    • 0034531969 scopus 로고    scopus 로고
    • Differential mechanism-based labeling and unequivocal activity assignment of the two active sites of intestinal lactase/phlorizin hydrolase
    • 10.1046/j.1432-1327.2000.01784.x, 11106409
    • Arribas JC, Herrero AG, Martin-Lomas M, Canada FJ, He S, Withers SG. Differential mechanism-based labeling and unequivocal activity assignment of the two active sites of intestinal lactase/phlorizin hydrolase. Eur J Biochem 2000, 267:6996-7005. 10.1046/j.1432-1327.2000.01784.x, 11106409.
    • (2000) Eur J Biochem , vol.267 , pp. 6996-7005
    • Arribas, J.C.1    Herrero, A.G.2    Martin-Lomas, M.3    Canada, F.J.4    He, S.5    Withers, S.G.6
  • 23
    • 0028148546 scopus 로고
    • The pro region of human intestinal lactase-phlorizin hydrolase
    • Naim HY, Jacob R, Naim H, Sambrook JF, Gething MJ. The pro region of human intestinal lactase-phlorizin hydrolase. J Biol Chem 1994, 269:26933-26943.
    • (1994) J Biol Chem , vol.269 , pp. 26933-26943
    • Naim, H.Y.1    Jacob, R.2    Naim, H.3    Sambrook, J.F.4    Gething, M.J.5
  • 24
    • 0037040930 scopus 로고    scopus 로고
    • The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme
    • 10.1074/jbc.M111500200, 11751874
    • Jacob R, Peters K, Naim HY. The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme. J Biol Chem 2002, 277:8217-8225. 10.1074/jbc.M111500200, 11751874.
    • (2002) J Biol Chem , vol.277 , pp. 8217-8225
    • Jacob, R.1    Peters, K.2    Naim, H.Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.