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Volumn 240, Issue 1, 1999, Pages 227-232

Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl Syndrome 1 (BBS1)

Author keywords

Chromosome 11; Genomic structure; Mapping

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CHROMOSOME 11Q; CHROMOSOME MAP; GENE LOCUS; GENE MAPPING; GENETIC POLYMORPHISM; HUMAN; MOLECULAR CLONING; MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TESTIS;

EID: 0032702984     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(99)00395-9     Document Type: Article
Times cited : (15)

References (28)
  • 1
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam B.J., Caetano-Anolles G., Gresshoff P.M. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal. Biochem. 19:1991;80-83.
    • (1991) Anal. Biochem. , vol.19 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 5
    • 0028841278 scopus 로고
    • Phenotypic differences among patients with Bardet-Biedl Syndrome linked to three different chromosomal loci
    • Carmi R., Elbedour K., Stone E.M., Sheffield V.C. Phenotypic differences among patients with Bardet-Biedl Syndrome linked to three different chromosomal loci. Am. J. Med. Genet. 59:1995;199-203.
    • (1995) Am. J. Med. Genet. , vol.59 , pp. 199-203
    • Carmi, R.1    Elbedour, K.2    Stone, E.M.3    Sheffield, V.C.4
  • 6
    • 0032552056 scopus 로고    scopus 로고
    • Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis
    • Chen H., Fre S., Slepnev V.I., Capua M.R., Takei K., Butler M.H., Di Fiore P.P. Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis. Nature. 394:1998;793-797.
    • (1998) Nature , vol.394 , pp. 793-797
    • Chen, H.1    Fre, S.2    Slepnev, V.I.3    Capua, M.R.4    Takei, K.5    Butler, M.H.6    Di Fiore, P.P.7
  • 7
    • 0019520680 scopus 로고
    • Renal disease: A sixth cardinal feature of the Laurence-Moon-Bardet-Biedl syndrome
    • Churchill D.N., McManamon P., Hurley R.M. Renal disease: a sixth cardinal feature of the Laurence-Moon-Bardet-Biedl syndrome. Clin. Nephrol. 16:1981;151-154.
    • (1981) Clin. Nephrol. , vol.16 , pp. 151-154
    • Churchill, D.N.1    McManamon, P.2    Hurley, R.M.3
  • 8
    • 0030663664 scopus 로고    scopus 로고
    • EH: A novel protein-protein interaction domain potentially involved in intracellular sorting
    • Di Fiore P.P., Pelicci P.G., Sorkin A. EH: a novel protein-protein interaction domain potentially involved in intracellular sorting. Trends Biochem. Sci. 22:1997;411-413.
    • (1997) Trends Biochem. Sci. , vol.22 , pp. 411-413
    • Di Fiore, P.P.1    Pelicci, P.G.2    Sorkin, A.3
  • 9
    • 0027963165 scopus 로고
    • Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients
    • Elbedour K., Zucker N., Zalzstein E., Barki Y., Carmi R. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am. J. Med. Genet. 52:1994;164-169.
    • (1994) Am. J. Med. Genet. , vol.52 , pp. 164-169
    • Elbedour, K.1    Zucker, N.2    Zalzstein, E.3    Barki, Y.4    Carmi, R.5
  • 13
    • 0032483539 scopus 로고    scopus 로고
    • The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB
    • 335-23 343
    • Hellqvist M., Mahlapuu M., Blixt A., Enerback S., Carlsson P. The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB. J. Biol. Chem. 273:1998;23 335-23 343.
    • (1998) J. Biol. Chem. , vol.273 , pp. 23
    • Hellqvist, M.1    Mahlapuu, M.2    Blixt, A.3    Enerback, S.4    Carlsson, P.5
  • 15
    • 0028128537 scopus 로고
    • Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
    • Leppert M., Baird L., Anderson K.L., Otterud B., Lupski J.R., Lewis R.A. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat. Genet. 6:1994;108-112.
    • (1994) Nat. Genet. , vol.6 , pp. 108-112
    • Leppert, M.1    Baird, L.2    Anderson, K.L.3    Otterud, B.4    Lupski, J.R.5    Lewis, R.A.6
  • 17
    • 0032493894 scopus 로고    scopus 로고
    • The novel ATM-related protein TRRAP is an essential cofactor for the c-myc and E2F oncoproteins
    • McMahon S.B., Van Buskirk H.A., Dugan K.A., Copeland T.D., Cole M.D. The novel ATM-related protein TRRAP is an essential cofactor for the c-myc and E2F oncoproteins. Cell. 94:1998;363-374.
    • (1998) Cell , vol.94 , pp. 363-374
    • McMahon, S.B.1    Van Buskirk, H.A.2    Dugan, K.A.3    Copeland, T.D.4    Cole, M.D.5
  • 21
    • 0030905177 scopus 로고    scopus 로고
    • published erratum
    • Riise R., Andreasson S., Borgastrom M.K., Wright A.F., Tommerup N., Rosenberg T., Tornqvist K. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br. J. Ophthalmol. 81:1997;378-385. published erratum Br. J. Ophthalmol. 81:1997;711.
    • (1997) Br. J. Ophthalmol. , vol.81 , pp. 711
  • 22
    • 0020057211 scopus 로고
    • Bardet-Biedl syndrome and related disorders
    • Schachat A.P., Maumenee I.H. Bardet-Biedl syndrome and related disorders. Arch. Ophthalmol. 100:1982;285-288.
    • (1982) Arch. Ophthalmol. , vol.100 , pp. 285-288
    • Schachat, A.P.1    Maumenee, I.H.2
  • 26
    • 0028335403 scopus 로고
    • Molecular cloning and expression of alternatively spliced PITSLRE protein kinase isoforms
    • 786-15 794
    • Xiang J., Lahti J.M., Grenet J., Easton J., Kidd V.J. Molecular cloning and expression of alternatively spliced PITSLRE protein kinase isoforms. J. Biol. Chem. 269:1994;15 786-15 794.
    • (1994) J. Biol. Chem. , vol.269 , pp. 15
    • Xiang, J.1    Lahti, J.M.2    Grenet, J.3    Easton, J.4    Kidd, V.J.5
  • 27
    • 0031855921 scopus 로고    scopus 로고
    • Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype
    • Young T.L., Woods M.O., Parfrey P.S., Green J.S., O'Leary E., Hefferton D., Davidson W.S. Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am. J. Med. Genet. 78:1998;461-467.
    • (1998) Am. J. Med. Genet. , vol.78 , pp. 461-467
    • Young, T.L.1    Woods, M.O.2    Parfrey, P.S.3    Green, J.S.4    O'Leary, E.5    Hefferton, D.6    Davidson, W.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.