메뉴 건너뛰기




Volumn 110, Issue 5, 2002, Pages 429-438

Identification of additional transcripts in the Williams-Beuren syndrome critical region

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; METHYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE; PROTEIN; PROTEIN DNAJ;

EID: 0036590136     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0710-x     Document Type: Article
Times cited : (103)

References (43)
  • 3
    • 0035869117 scopus 로고    scopus 로고
    • WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the M1x transcription factor network
    • Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A (2001) WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the M1x transcription factor network. Hum Mol Genet 10:617-627
    • (2001) Hum Mol Genet , vol.10 , pp. 617-627
    • Cairo, S.1    Merla, G.2    Urbinati, F.3    Ballabio, A.4    Reymond, A.5
  • 5
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73:159-168
    • (1993) Cell , vol.73 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.F.5    Keating, M.T.6
  • 6
    • 0033036631 scopus 로고    scopus 로고
    • Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
    • DeSilva U, Massa H, Trask BJ, Green ED (1999) Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome. Genome Res 9:428-436
    • (1999) Genome Res , vol.9 , pp. 428-436
    • DeSilva, U.1    Massa, H.2    Trask, B.J.3    Green, E.D.4
  • 9
    • 0034528516 scopus 로고    scopus 로고
    • Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome
    • Doyle JL, DeSilva U, Miller W, Green ED (2000) Divergen human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet Cell Genet 90: 285-290
    • (2000) Cytogenet Cell Genet , vol.90 , pp. 285-290
    • Doyle, J.L.1    DeSilva, U.2    Miller, W.3    Green, E.D.4
  • 11
    • 0032837598 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: Genes and mechanisms
    • Francke U (1999) Williams-Beuren syndrome: Genes and mechanisms. Hum Mol Genet 8:1947-1954
    • (1999) Hum Mol Genet , vol.8 , pp. 1947-1954
    • Francke, U.1
  • 13
    • 0032695657 scopus 로고    scopus 로고
    • Identification of GTF2IRD1, a putative transcription factor within the Wiliams-Beuren syndrome deletion at 7q11.23
    • Franke Y, Peoples RJ, Francke U (1999) Identification of GTF2IRD1, a putative transcription factor within the Wiliams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet 86:296-304
    • (1999) Cytogenet Cell Genet , vol.86 , pp. 296-304
    • Franke, Y.1    Peoples, R.J.2    Francke, U.3
  • 18
    • 0032400961 scopus 로고    scopus 로고
    • A novel human gene, WSTF, is deleted in Williams syndrome
    • Lu X, Meng X, Morris CA, Keating MT (1998) A novel human gene, WSTF, is deleted in Williams syndrome. Genomics 54:241-249
    • (1998) Genomics , vol.54 , pp. 241-249
    • Lu, X.1    Meng, X.2    Morris, C.A.3    Keating, M.T.4
  • 19
    • 0034070301 scopus 로고    scopus 로고
    • WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: Complete characterisation of the human gene and the mouse ortholog
    • De Luis O, Valero MC, Jurado LA (2000) WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: Complete characterisation of the human gene and the mouse ortholog. Eur J Hum Genet 8:215-222
    • (2000) Eur J Hum Genet , vol.8 , pp. 215-222
    • De Luis, O.1    Valero, M.C.2    Jurado, L.A.3
  • 20
    • 0012458112 scopus 로고    scopus 로고
    • Towards a complete transcription map of the Williams-Beuren syndrome deletion region
    • Magano LF, Bayes M, Flores R, Perez Jurado LA (2001) Towards a complete transcription map of the Williams-Beuren syndrome deletion region. Eur J Hum Genet 9 (Suppl 1):244
    • (2001) Eur J Hum Genet , vol.9 , Issue.SUPPL. 1 , pp. 244
    • Magano, L.F.1    Bayes, M.2    Flores, R.3    Perez Jurado, L.A.4
  • 21
    • 0031794713 scopus 로고    scopus 로고
    • Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
    • Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT (1998a) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum Genet 103:590-599
    • (1998) Hum Genet , vol.103 , pp. 590-599
    • Meng, X.1    Lu, X.2    Li, Z.3    Green, E.D.4    Massa, H.5    Trask, B.J.6    Morris, C.A.7    Keating, M.T.8
  • 22
    • 0032168133 scopus 로고    scopus 로고
    • A novel human gene FKBP6 is deleted in Williams syndrome
    • Meng X, Lu X, Morris CA, Keating MT (1998b) A novel human gene FKBP6 is deleted in Williams syndrome. Genomics 52:130-137
    • (1998) Genomics , vol.52 , pp. 130-137
    • Meng, X.1    Lu, X.2    Morris, C.A.3    Keating, M.T.4
  • 26
    • 0036144777 scopus 로고    scopus 로고
    • The KA/KS ratio test for assessing the protein-coding potential of genomic regions: An empirical and simulation study
    • Nekrutenko A, Makova KD, Li WH (2002) The KA/KS ratio test for assessing the protein-coding potential of genomic regions: An empirical and simulation study. Genome Res 12:198-202
    • (2002) Genome Res , vol.12 , pp. 198-202
    • Nekrutenko, A.1    Makova, K.D.2    Li, W.H.3
  • 27
    • 0032775557 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: Unraveling the mysteries of a microdeletion disorder
    • Osborne LR (1999) Williams-Beuren syndrome: Unraveling the mysteries of a microdeletion disorder. Mol Genet Metab 67:1-10
    • (1999) Mol Genet Metab , vol.67 , pp. 1-10
    • Osborne, L.R.1
  • 29
    • 0030667669 scopus 로고    scopus 로고
    • PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
    • Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW (1997) PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics 45:402-406
    • (1997) Genomics , vol.45 , pp. 402-406
    • Osborne, L.R.1    Herbrick, J.A.2    Greavette, T.3    Heng, H.H.4    Tsui, L.C.5    Scherer, S.W.6
  • 30
    • 0344603630 scopus 로고    scopus 로고
    • Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome
    • Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC (1999) Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics 57:279-284
    • (1999) Genomics , vol.57 , pp. 279-284
    • Osborne, L.R.1    Campbell, T.2    Daradich, A.3    Scherer, S.W.4    Tsui, L.C.5
  • 31
    • 0032535154 scopus 로고    scopus 로고
    • Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion
    • Paperna T, Peoples R, Wang YK, Kaplan P, Francke U (1998) Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. Genomics 54:453-459
    • (1998) Genomics , vol.54 , pp. 453-459
    • Paperna, T.1    Peoples, R.2    Wang, Y.K.3    Kaplan, P.4    Francke, U.5
  • 32
    • 0029948577 scopus 로고    scopus 로고
    • The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
    • Peoples R, Perez-Jurado L, Wang YK, Kaplan P, Francke U (1996) The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet 58:1370-1373
    • (1996) Am J Hum Genet , vol.58 , pp. 1370-1373
    • Peoples, R.1    Perez-Jurado, L.2    Wang, Y.K.3    Kaplan, P.4    Francke, U.5
  • 33
    • 0032408489 scopus 로고    scopus 로고
    • Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23
    • Peoples RJ, Cisco MJ, Kaplan P, Francke U (1998) Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet 82:238-246
    • (1998) Cytogenet Cell Genet , vol.82 , pp. 238-246
    • Peoples, R.J.1    Cisco, M.J.2    Kaplan, P.3    Francke, U.4
  • 34
    • 0033939577 scopus 로고    scopus 로고
    • A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome - Deletion region at 7q11.23
    • Peoples R, Franke Y, Wang YK, Perez-Jurado L, Paperna T, Cisco M, Francke U (2000) A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome - Deletion region at 7q11.23. Am J Hum Genet 66:47-68
    • (2000) Am J Hum Genet , vol.66 , pp. 47-68
    • Peoples, R.1    Franke, Y.2    Wang, Y.K.3    Perez-Jurado, L.4    Paperna, T.5    Cisco, M.6    Francke, U.7
  • 35
    • 0031886974 scopus 로고    scopus 로고
    • A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protien TFII-I and BAP-135, a phosphorylation target of BTK
    • Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U (1998) A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protien TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet 7:325-334
    • (1998) Hum Mol Genet , vol.7 , pp. 325-334
    • Perez Jurado, L.A.1    Wang, Y.K.2    Peoples, R.3    Coloma, A.4    Cruces, J.5    Francke, U.6
  • 36
    • 0345201706 scopus 로고    scopus 로고
    • TBL2, a novel transducin family member in the WBS deletion: Characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog
    • Perez Jurado LA, Wang YK, Francke U, Cruces J (1999) TBL2, a novel transducin family member in the WBS deletion: Characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Cytogenet Cell Genet 86:277-284
    • (1999) Cytogenet Cell Genet , vol.86 , pp. 277-284
    • Perez Jurado, L.A.1    Wang, Y.K.2    Francke, U.3    Cruces, J.4
  • 39
    • 0032701165 scopus 로고    scopus 로고
    • A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome
    • Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K (1999a) A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Eur J Hum Genet 7:737-747
    • (1999) Eur J Hum Genet , vol.7 , pp. 737-747
    • Tassabehji, M.1    Carette, M.2    Wilmot, C.3    Donnai, D.4    Read, A.P.5    Metcalfe, K.6
  • 41
    • 0034306681 scopus 로고    scopus 로고
    • Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: The low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)
    • Valero MC, De Luis O, Cruces J, Perez Jurado LA (2000) Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: The low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Genomics 69:1-13
    • (2000) Genomics , vol.69 , pp. 1-13
    • Valero, M.C.1    De Luis, O.2    Cruces, J.3    Perez Jurado, L.A.4
  • 42
    • 0032033164 scopus 로고    scopus 로고
    • A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region
    • Wang YK, Perez-Jurado LA, Francke U (1998) A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Genomics 48:163-170
    • (1998) Genomics , vol.48 , pp. 163-170
    • Wang, Y.K.1    Perez-Jurado, L.A.2    Francke, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.