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Volumn 55, Issue 6, 1999, Pages 466-472

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene

Author keywords

Candidate gene; Cloning; Shwachman syndrome; Translocation breakpoint

Indexed keywords

DNA; OLIGONUCLEOTIDE;

EID: 0032791181     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550612.x     Document Type: Article
Times cited : (10)

References (33)
  • 1
    • 0000785397 scopus 로고
    • The syndrome of pancreatic insufficiency and bone marrow dysfunction
    • Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964: 65: 645-663.
    • (1964) J Pediatr , vol.65 , pp. 645-663
    • Shwachman, H.1    Diamond, L.K.2    Oski, F.A.3    Khaw, K.T.4
  • 4
    • 0023778641 scopus 로고
    • Hypothesis: Shwachman's syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency
    • Paterson CR, Wormsley KG. Hypothesis: Shwachman's syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency. Ann Nutr Metab 1988: 32: 127-132.
    • (1988) Ann Nutr Metab , vol.32 , pp. 127-132
    • Paterson, C.R.1    Wormsley, K.G.2
  • 5
    • 0014635815 scopus 로고
    • A syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism
    • Shmerling DH, Prader A, Hitzig WH, Giedion A, Hadorn B, Kuhni M. A syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism. Helv Paediatr Acta 1969: 24: 547-575.
    • (1969) Helv Paediatr Acta , vol.24 , pp. 547-575
    • Shmerling, D.H.1    Prader, A.2    Hitzig, W.H.3    Giedion, A.4    Hadorn, B.5    Kuhni, M.6
  • 7
    • 0026767664 scopus 로고
    • A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines
    • Fukushima Y, Ohashi H, Wakui K, Nishida T, Oh-ishi T. A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines. Jpn J Human Genet 1992: 37: 149-150.
    • (1992) Jpn J Human Genet , vol.37 , pp. 149-150
    • Fukushima, Y.1    Ohashi, H.2    Wakui, K.3    Nishida, T.4    Oh-Ishi, T.5
  • 8
    • 0025200279 scopus 로고
    • R-banding and nonisotopic in situ hybridization: Precise localization of the human type collagen (COL2A1)
    • Takahashi E, Hori T, O'Connell P, Leppert M, White R. R-banding and nonisotopic in situ hybridization: precise localization of the human type collagen (COL2A1). Hum Genet 1990: 86: 14-16.
    • (1990) Hum Genet , vol.86 , pp. 14-16
    • Takahashi, E.1    Hori, T.2    O'Connell, P.3    Leppert, M.4    White, R.5
  • 10
    • 0026351408 scopus 로고
    • Locating protein-coding regions in human DNA sequences by a multiple sensorneural network approach
    • Uberbacher EC, Mural RJ. Locating protein-coding regions in human DNA sequences by a multiple sensorneural network approach. Proc Natl Acad Sci USA 1991: 88: 11261-11265.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 11261-11265
    • Uberbacher, E.C.1    Mural, R.J.2
  • 11
    • 0028618270 scopus 로고
    • Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames
    • Solovyev VV, Salamov AA, Lawrence CB. Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames. Nucl Acids Res 1994: 22: 5156-5163.
    • (1994) Nucl Acids Res , vol.22 , pp. 5156-5163
    • Solovyev, V.V.1    Salamov, A.A.2    Lawrence, C.B.3
  • 12
    • 0027191077 scopus 로고
    • Multiple forms of the APC transcripts and their tissue-specific expression
    • Horii A, Nakatsuru S, Ichii S, Nagase H, Nakamura Y. Multiple forms of the APC transcripts and their tissue-specific expression. Hum Molec Genet 1993: 2: 283-287.
    • (1993) Hum Molec Genet , vol.2 , pp. 283-287
    • Horii, A.1    Nakatsuru, S.2    Ichii, S.3    Nagase, H.4    Nakamura, Y.5
  • 13
    • 0025248098 scopus 로고
    • The human minisatellite consensus at breakpoints of oncogene translocations
    • Krowczynska AM, Rudders RA, Krontiris TG. The human minisatellite consensus at breakpoints of oncogene translocations. Nucleic Acids Res 1990: 18: 1121-1127.
    • (1990) Nucleic Acids Res , vol.18 , pp. 1121-1127
    • Krowczynska, A.M.1    Rudders, R.A.2    Krontiris, T.G.3
  • 14
    • 0024504147 scopus 로고
    • Ph1 + bcr - acute leukemias: Implication of Alu sequences in a chromosomal translocation occurring in the new cluster region within the BCR gene
    • Chen SJ, Chen Z, d'Auriol L, Le Coniat M, Grausz D, Berger R. Ph1 + bcr - acute leukemias: implication of Alu sequences in a chromosomal translocation occurring in the new cluster region within the BCR gene. Oncogene 1989: 4: 195-202.
    • (1989) Oncogene , vol.4 , pp. 195-202
    • Chen, S.J.1    Chen, Z.2    D'Auriol, L.3    Le Coniat, M.4    Grausz, D.5    Berger, R.6
  • 16
    • 0023902435 scopus 로고
    • A consensus sequence for cleavage by vertebrate DNA topoisomerase II
    • Spitzner JR, Muller MT. A consensus sequence for cleavage by vertebrate DNA topoisomerase II. Nucl Acids Res 1988: 16: 5533-5556.
    • (1988) Nucl Acids Res , vol.16 , pp. 5533-5556
    • Spitzner, J.R.1    Muller, M.T.2
  • 17
    • 0023869845 scopus 로고
    • Overlapping two genes in human DNA: A salivary amylase gene overlaps with gamma-actin pseudogene that carried endgenous retroviral DNA
    • Emi M, Horii A, Tomita N, Nishide N, Ogawa M, Mori T, Matsubara K. Overlapping two genes in human DNA: a salivary amylase gene overlaps with gamma-actin pseudogene that carried endgenous retroviral DNA. Gene 1988: 62: 229-235.
    • (1988) Gene , vol.62 , pp. 229-235
    • Emi, M.1    Horii, A.2    Tomita, N.3    Nishide, N.4    Ogawa, M.5    Mori, T.6    Matsubara, K.7
  • 18
    • 0028674996 scopus 로고
    • A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene
    • Sargent CA, Chalmers IJ, Leversha M, Affara NA. A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene. Mamm Genome 1994: 5: 791-796.
    • (1994) Mamm Genome , vol.5 , pp. 791-796
    • Sargent, C.A.1    Chalmers, I.J.2    Leversha, M.3    Affara, N.A.4
  • 19
    • 0031022190 scopus 로고    scopus 로고
    • Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition
    • Regnier V, Meddeb M, Lecointre G. Richard F, Duverger A, Nguyen VC, Dutrillaux B, Bernheim A, Danglot G. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition. Hum Mol Genet 1997: 6: 9-16.
    • (1997) Hum Mol Genet , vol.6 , pp. 9-16
    • Regnier, V.1    Meddeb, M.2    Lecointre, G.3    Richard, F.4    Duverger, A.5    Nguyen, V.C.6    Dutrillaux, B.7    Bernheim, A.8    Danglot, G.9
  • 21
    • 0026456701 scopus 로고
    • The human Xist gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localised within the nucleus
    • Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y, Lawrence J, Willard HF. The human Xist gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localised within the nucleus. Cell 1992: 71: 527-542.
    • (1992) Cell , vol.71 , pp. 527-542
    • Brown, C.J.1    Hendrich, B.D.2    Rupert, J.L.3    Lafreniere, R.G.4    Xing, Y.5    Lawrence, J.6    Willard, H.F.7
  • 22
    • 0028124726 scopus 로고
    • Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
    • Wevrick R, Kerns JA, Francke U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 1994: 3: 1877-1882.
    • (1994) Hum Mol Genet , vol.3 , pp. 1877-1882
    • Wevrick, R.1    Kerns, J.A.2    Francke, U.3
  • 24
    • 0030039598 scopus 로고    scopus 로고
    • Isolation of the testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal
    • Ninomiya S, Isomura M, Nakahara K, Seino Y, Nakamura Y. Isolation of the testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal. Hum Mol Genet 1996: 5: 69-72.
    • (1996) Hum Mol Genet , vol.5 , pp. 69-72
    • Ninomiya, S.1    Isomura, M.2    Nakahara, K.3    Seino, Y.4    Nakamura, Y.5
  • 29
    • 0023646823 scopus 로고
    • A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination
    • Rouyer F, Simmler MC, Page DC, Weissenbach J. A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell 1987: 51: 417-425.
    • (1987) Cell , vol.51 , pp. 417-425
    • Rouyer, F.1    Simmler, M.C.2    Page, D.C.3    Weissenbach, J.4
  • 30
    • 0023240188 scopus 로고
    • Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy
    • Bodrug SE, Ray PN, Gonzalez IL, Schmickel RD, Sylvester JE, Worton RG. Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science 1987: 237: 1620-1624.
    • (1987) Science , vol.237 , pp. 1620-1624
    • Bodrug, S.E.1    Ray, P.N.2    Gonzalez, I.L.3    Schmickel, R.D.4    Sylvester, J.E.5    Worton, R.G.6
  • 31
    • 0026014848 scopus 로고
    • Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy
    • Bodrug SE, Holden JJ, Ray PN, Worton RG. Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J 1991: 10: 3931-3939.
    • (1991) EMBO J , vol.10 , pp. 3931-3939
    • Bodrug, S.E.1    Holden, J.J.2    Ray, P.N.3    Worton, R.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.