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Volumn 8, Issue 10, 1999, Pages 1947-1954

Williams-Beuren syndrome: Genes and mechanisms

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 7Q; CROSSING OVER; CYTOGENETICS; DNA FLANKING REGION; GENE DELETION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; WILLIAMS BEUREN SYNDROME;

EID: 0032837598     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.10.1947     Document Type: Review
Times cited : (186)

References (75)
  • 2
    • 0025179065 scopus 로고
    • Williams Syndrome: An historical perspective of its evolution, natural history, and etiology
    • Jones, K.L. (1990) Williams Syndrome: An historical perspective of its evolution, natural history, and etiology. Am. J. Med. Genet., 6 (suppl.), 89-96.
    • (1990) Am. J. Med. Genet. , vol.6 , Issue.SUPPL. , pp. 89-96
    • Jones, K.L.1
  • 3
    • 0002391264 scopus 로고    scopus 로고
    • Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
    • Pérez-Jurado, L.A., Peoples, R., Kaplan, P., Hamel, B.C. and Francke, U. (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am. J. Hum. Genet., 59, 781-792.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 781-792
    • Pérez-Jurado, L.A.1    Peoples, R.2    Kaplan, P.3    Hamel, B.C.4    Francke, U.5
  • 4
    • 0344622265 scopus 로고    scopus 로고
    • Williams Syndrome: A distinct neurobehavioral disorder
    • in press
    • Kaplan, P., Wang, P. and Francke, U. (1999) Williams Syndrome: A distinct neurobehavioral disorder. J. Child Neurol., in press.
    • (1999) J. Child Neurol.
    • Kaplan, P.1    Wang, P.2    Francke, U.3
  • 8
    • 0032941142 scopus 로고    scopus 로고
    • Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome
    • Partsch, C.J., Dreyer, G., Gosch, A., Winter, M., Schneppenheim, R., Wessel, A. and Pankau, R. (1999) Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J. Pediatr., 134, 82-89.
    • (1999) J. Pediatr. , vol.134 , pp. 82-89
    • Partsch, C.J.1    Dreyer, G.2    Gosch, A.3    Winter, M.4    Schneppenheim, R.5    Wessel, A.6    Pankau, R.7
  • 9
    • 0025260871 scopus 로고
    • Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome
    • Jernigan, T.L. and Bellugi, U. (1990) Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Arch. Neurol., 47, 529-533.
    • (1990) Arch. Neurol. , vol.47 , pp. 529-533
    • Jernigan, T.L.1    Bellugi, U.2
  • 10
    • 0026794990 scopus 로고
    • Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation
    • Wang, P.P., Hesselink, J.R., Jernigan, T.L., Doherty, S. and Bellugi, U. (1992) Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation. Neurology, 42, 1999-2002.
    • (1992) Neurology , vol.42 , pp. 1999-2002
    • Wang, P.P.1    Hesselink, J.R.2    Jernigan, T.L.3    Doherty, S.4    Bellugi, U.5
  • 12
  • 15
    • 0029890211 scopus 로고    scopus 로고
    • A new clinical sign in Williams syndrome
    • Withers, S. (1996) A new clinical sign in Williams syndrome. Arch. Dis. Child., 75, 89.
    • (1996) Arch. Dis. Child. , vol.75 , pp. 89
    • Withers, S.1
  • 16
    • 0030821541 scopus 로고    scopus 로고
    • Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome
    • Gosch, A. and Pankau, R. (1997) Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Dev. Med. Child Neurol., 39, 527-533.
    • (1997) Dev. Med. Child Neurol. , vol.39 , pp. 527-533
    • Gosch, A.1    Pankau, R.2
  • 17
    • 0030891870 scopus 로고    scopus 로고
    • Independence and adaptive behavior in adults with Williams syndrome
    • Davies, M., Howlin, P. and Udwin, O. (1997) Independence and adaptive behavior in adults with Williams syndrome. Am. J. Med. Genet., 70, 188-195.
    • (1997) Am. J. Med. Genet. , vol.70 , pp. 188-195
    • Davies, M.1    Howlin, P.2    Udwin, O.3
  • 18
    • 0031938910 scopus 로고    scopus 로고
    • Adults with Williams syndrome - Preliminary study of social, emotional and behavioural difficulties
    • Davies, M., Udwin, O. and Howlin, P. (1998) Adults with Williams syndrome - preliminary study of social, emotional and behavioural difficulties. Br. J. Psychiatry, 172, 273-276.
    • (1998) Br. J. Psychiatry , vol.172 , pp. 273-276
    • Davies, M.1    Udwin, O.2    Howlin, P.3
  • 19
    • 0030971122 scopus 로고    scopus 로고
    • Brief clinical report: Infantile spasms in two children with Williams syndrome
    • Tsao, C.Y. and Westman, J.A. (1997) Brief clinical report: infantile spasms in two children with Williams syndrome. Am. J. Med. Genet., 71, 54-56.
    • (1997) Am. J. Med. Genet. , vol.71 , pp. 54-56
    • Tsao, C.Y.1    Westman, J.A.2
  • 20
    • 0031608062 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
    • Mizugishi, K., Yamanaka, K., Kuwajima, K. and Kondo, I. (1998) Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J. Hum. Genet., 43, 178-181.
    • (1998) J. Hum. Genet. , vol.43 , pp. 178-181
    • Mizugishi, K.1    Yamanaka, K.2    Kuwajima, K.3    Kondo, I.4
  • 21
    • 0343972650 scopus 로고
    • Microscopically visible deletion of chromosome 7 in a child with features of Williams syndrome
    • Kahler, S.G., Adhvaryu, S.G., Helali, N. and Qumsiyeh, M.B. (1995) Microscopically visible deletion of chromosome 7 in a child with features of Williams syndrome. Am. J. Hum. Genet., 57, A117.
    • (1995) Am. J. Hum. Genet. , vol.57
    • Kahler, S.G.1    Adhvaryu, S.G.2    Helali, N.3    Qumsiyeh, M.B.4
  • 22
    • 0025300328 scopus 로고
    • Proximal interstitial deletion of 7q: A case report and review of the literature
    • Zackowski, J.L., Raffel, L.J., Blank, C.A. and Schwartz, S. (1990) Proximal interstitial deletion of 7q: a case report and review of the literature. Am. J. Med. Genet., 36, 328-332.
    • (1990) Am. J. Med. Genet. , vol.36 , pp. 328-332
    • Zackowski, J.L.1    Raffel, L.J.2    Blank, C.A.3    Schwartz, S.4
  • 23
    • 0029891886 scopus 로고    scopus 로고
    • Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion
    • Robinson, W.P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D. and Schinzel, A. (1996) Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics, 34, 17-23.
    • (1996) Genomics , vol.34 , pp. 17-23
    • Robinson, W.P.1    Waslynka, J.2    Bernasconi, F.3    Wang, M.4    Clark, S.5    Kotzot, D.6    Schinzel, A.7
  • 26
    • 0030667669 scopus 로고    scopus 로고
    • PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7
    • Osborne, L.R., Herbrick, J.A., Greavette, T., Heng, H.H.Q., Tsui, L.C. and Scherer, S.W. (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.Q.4    Tsui, L.C.5    Scherer, S.W.6
  • 27
    • 0031886974 scopus 로고    scopus 로고
    • A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
    • Pérez-Jurado, L.A., Wang, Y.K., Peoples, R., Coloma, A., Cruces, J. and Francke, U. (1998) A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein 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
    • Pérez-Jurado, L.A.1    Wang, Y.K.2    Peoples, R.3    Coloma, A.4    Cruces, J.5    Francke, U.6
  • 28
    • 0024996744 scopus 로고
    • Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)
    • Francke, U., Hsieh, C.L., Foellmer, B.E., Lomax, K.J., Malech, H.L. and Leto, T.L. (1990) Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Am. J Hum. Genet., 47, 483-492.
    • (1990) Am. J Hum. Genet. , vol.47 , pp. 483-492
    • Francke, U.1    Hsieh, C.L.2    Foellmer, B.E.3    Lomax, K.J.4    Malech, H.L.5    Leto, T.L.6
  • 30
    • 0033151942 scopus 로고    scopus 로고
    • A complete physical contig and partial transcript map of the Williams syndrome critical region
    • Hockenhull, E.L., Carette, M.J., Metcalfe, K., Donnai, D., Read, A.P. and Tassabehji, M. (1999) A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics, 58, 138-145.
    • (1999) Genomics , vol.58 , pp. 138-145
    • Hockenhull, E.L.1    Carette, M.J.2    Metcalfe, K.3    Donnai, D.4    Read, A.P.5    Tassabehji, M.6
  • 31
    • 0028920682 scopus 로고
    • POM-ZP3, a bipartite transcript derived from human ZP3 and a POM121 homologue
    • Kipersztok, S., Osawa, G.A., Liang, L.F., Modi, W.S. and Dean, J. (1995) POM-ZP3, a bipartite transcript derived from human ZP3 and a POM121 homologue. Genomics, 25, 354-359.
    • (1995) Genomics , vol.25 , pp. 354-359
    • Kipersztok, S.1    Osawa, G.A.2    Liang, L.F.3    Modi, W.S.4    Dean, J.5
  • 33
    • 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, Y.K., Pérez-Jurado, L.A. and 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    Pérez-Jurado, L.A.2    Francke, U.3
  • 34
    • 0033036631 scopus 로고    scopus 로고
    • Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
    • DeSilva, U., Massa, H., Trask, B.J. and Green, E.D. (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
  • 36
    • 0028294413 scopus 로고
    • Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
    • Ewart, A.K., Jin, W., Atkinson, D., Morris, C.A. and Keating, M.T. (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest., 93, 1071-1077.
    • (1994) J. Clin. Invest. , vol.93 , pp. 1071-1077
    • Ewart, A.K.1    Jin, W.2    Atkinson, D.3    Morris, C.A.4    Keating, M.T.5
  • 37
    • 0030752982 scopus 로고    scopus 로고
    • Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis
    • Tassabehji, M., Metcalfe, K., Donnai, D., Hurst, J., Reardon, W., Burch, M. and Read, A.P. (1997) Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum. Mol. Genet., 6, 1029-1036.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1029-1036
    • Tassabehji, M.1    Metcalfe, K.2    Donnai, D.3    Hurst, J.4    Reardon, W.5    Burch, M.6    Read, A.P.7
  • 41
    • 0031833314 scopus 로고    scopus 로고
    • An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
    • Tassabehji, M., Metcalfe, K., Hurst, J., Ashcroft, G.S., Kielty, C., Wilmot, C., Donnai, D., Read, A.P. and Jones, C.J.P. (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum. Mol. Genet., 7, 1021-1028.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1021-1028
    • Tassabehji, M.1    Metcalfe, K.2    Hurst, J.3    Ashcroft, G.S.4    Kielty, C.5    Wilmot, C.6    Donnai, D.7    Read, A.P.8    Jones, C.J.P.9
  • 42
    • 0033534618 scopus 로고    scopus 로고
    • Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
    • Zhang, M.C., He L., Giro M., Yong S.L., Tiller G.E. and Davidson J.M. (1999) Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J. Biol. Chem., 274, 981-986.
    • (1999) J. Biol. Chem. , vol.274 , pp. 981-986
    • Zhang, M.C.1    He, L.2    Giro, M.3    Yong, S.L.4    Tiller, G.E.5    Davidson, J.M.6
  • 43
    • 0031181536 scopus 로고    scopus 로고
    • Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: New insights
    • Furthmayr, H. and Francke, U. (1997) Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights. Semin. Thorac. Cardiovasc. Surg., 9, 191-205.
    • (1997) Semin. Thorac. Cardiovasc. Surg. , vol.9 , pp. 191-205
    • Furthmayr, H.1    Francke, U.2
  • 44
    • 0028919274 scopus 로고
    • Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23
    • Okumura, K., Nogami, M., Taguchi, H., Dean, F.B., Chen, M., Pan, Z.Q., Hurwitz, J., Shiratori, A., Murakami, Y., Ozawa, K. et al. (1995) Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. Genomics, 25, 274-278.
    • (1995) Genomics , vol.25 , pp. 274-278
    • Okumura, K.1    Nogami, M.2    Taguchi, H.3    Dean, F.B.4    Chen, M.5    Pan, Z.Q.6    Hurwitz, J.7    Shiratori, A.8    Murakami, Y.9    Ozawa, K.10
  • 45
    • 0029948577 scopus 로고    scopus 로고
    • The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
    • Peoples, R., Pérez-Jurado, L., Wang, Y.K., Kaplan, P. and 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    Pérez-Jurado, L.2    Wang, Y.K.3    Kaplan, P.4    Francke, U.5
  • 48
    • 0032493746 scopus 로고    scopus 로고
    • Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition
    • Wang, J.Y., Frenzel, K.E., Wen, D. and Falls, D.L. (1998) Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition. J. Biol. Chem., 273, 20525-20534.
    • (1998) J. Biol. Chem. , vol.273 , pp. 20525-20534
    • Wang, J.Y.1    Frenzel, K.E.2    Wen, D.3    Falls, D.L.4
  • 49
    • 0032565769 scopus 로고    scopus 로고
    • Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization
    • Yang, N., Higuchi, O., Ohashi, K., Nagata, K., Wada, A., Kangawa, K., Nishida, E. and Mizuno, K. (1998) Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization. Nature, 393, 809-812.
    • (1998) Nature , vol.393 , pp. 809-812
    • Yang, N.1    Higuchi, O.2    Ohashi, K.3    Nagata, K.4    Wada, A.5    Kangawa, K.6    Nishida, E.7    Mizuno, K.8
  • 50
    • 0031043863 scopus 로고    scopus 로고
    • A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
    • Wang, Y.K., Samos, C.H., Peoples, R., Pérez-Jurado, L.A., Nusse, R. and Francke, U. (1997) A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum. Mol. Genet., 6, 465-472.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 465-472
    • Wang, Y.K.1    Samos, C.H.2    Peoples, R.3    Pérez-Jurado, L.A.4    Nusse, R.5    Francke, U.6
  • 51
    • 0345034604 scopus 로고    scopus 로고
    • Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome
    • Wang, Y.K., Sporle, R., Paperna, T., Schughart, K. and Francke, U. (1999) Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. Genomics, 57, 235-248.
    • (1999) Genomics , vol.57 , pp. 235-248
    • Wang, Y.K.1    Sporle, R.2    Paperna, T.3    Schughart, K.4    Francke, U.5
  • 54
    • 0030592770 scopus 로고    scopus 로고
    • Enhancement of neurite-sprouting by suppression of HPC-1/syntaxin 1A activity in cultured vertebrate nerve cells
    • Yamaguchi, K., Nakayama, T., Fujiwara, T. and Akagawa, K. (1996) Enhancement of neurite-sprouting by suppression of HPC-1/syntaxin 1A activity in cultured vertebrate nerve cells. Brain Res., 740, 185-192.
    • (1996) Brain Res. , vol.740 , pp. 185-192
    • Yamaguchi, K.1    Nakayama, T.2    Fujiwara, T.3    Akagawa, K.4
  • 55
    • 0032571398 scopus 로고    scopus 로고
    • Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H
    • Richter-Cook, N.J., Dever, T.E., Hensold, J.O. and Merrick, W.C. (1998) Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H. J. Biol. Chem., 273, 7579-7587.
    • (1998) J. Biol. Chem. , vol.273 , pp. 7579-7587
    • Richter-Cook, N.J.1    Dever, T.E.2    Hensold, J.O.3    Merrick, W.C.4
  • 56
    • 0031459588 scopus 로고    scopus 로고
    • CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies
    • De Zeeuw, C.I., Hoogenraad, C.C., Goedknegt, E., Hertzberg, E., Neubauer, A., Grosveld, F. and Galjart, N. (1997) CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies. Neuron, 19, 1187-1199.
    • (1997) Neuron , vol.19 , pp. 1187-1199
    • De Zeeuw, C.I.1    Hoogenraad, C.C.2    Goedknegt, E.3    Hertzberg, E.4    Neubauer, A.5    Grosveld, F.6    Galjart, N.7
  • 57
    • 0032212802 scopus 로고    scopus 로고
    • The murine CYLN2 gene: Genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region
    • Hoogenraad, C.C., Eussen, B.H., Langeveld, A., van Haperen, R., Winterberg, S., Wouters, C.H., Grosveld, F., De Zeeuw, C.I. and Galjart, N. (1998) The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. Genomics, 53, 348-358.
    • (1998) Genomics , vol.53 , pp. 348-358
    • Hoogenraad, C.C.1    Eussen, B.H.2    Langeveld, A.3    Van Haperen, R.4    Winterberg, S.5    Wouters, C.H.6    Grosveld, F.7    De Zeeuw, C.I.8    Galjart, N.9
  • 58
    • 0032168133 scopus 로고    scopus 로고
    • A novel human gene FKBP6 is deleted in Williams syndrome
    • Meng, X., Lu, X., Morris, C.A. and Keating, M.T. (1998) 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
  • 59
    • 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, R.J., Cisco, M.J., Kaplan, P. and 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
  • 60
    • 0032400961 scopus 로고    scopus 로고
    • A novel human gene, WSTF, is deleted in Williams syndrome
    • Lu, X., Meng, X., Morris, C.A. and Keating, M.T. (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
  • 61
    • 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, E.D., Massa, H., Trask, B.J., Morris, C.A. and Keating, M.T. (1998) 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
  • 63
    • 0028076764 scopus 로고
    • The ancient regulatory-protein family of WD-repeat proteins
    • Erratum. Nature (1994) 371, 812
    • Neer, E.J., Schmidt, C.J., Nambudripad, R. and Smith, T.F. (1994) The ancient regulatory-protein family of WD-repeat proteins [Erratum. Nature (1994) 371, 812]. Nature, 371, 297-300.
    • (1994) Nature , vol.371 , pp. 297-300
    • Neer, E.J.1    Schmidt, C.J.2    Nambudripad, R.3    Smith, T.F.4
  • 64
    • 24244476240 scopus 로고    scopus 로고
    • TBL2, a beta transducin family member, mapped to the Williams-Beuren syndrome deletion and the homologous region on mouse chromosome
    • in press
    • Pérez-Jurado, L.A., Wang, Y.-K., Francke, U. and Cruces, J. (1999) TBL2, a beta transducin family member, mapped to the Williams-Beuren syndrome deletion and the homologous region on mouse chromosome. Cytogenet. Cell Genet., in press.
    • (1999) Cytogenet. Cell Genet.
    • Pérez-Jurado, L.A.1    Wang, Y.-K.2    Francke, U.3    Cruces, J.4
  • 66
    • 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, Y.K., Kaplan, P. and 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
  • 67
    • 0033582334 scopus 로고    scopus 로고
    • Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands
    • Morita, K., Furuse, M., Fujimoto, K. and Tsukita, S. (1999) Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. Proc. Natl Acad. Sci. USA, 96, 511-516.
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 511-516
    • Morita, K.1    Furuse, M.2    Fujimoto, K.3    Tsukita, S.4
  • 68
    • 0031172452 scopus 로고    scopus 로고
    • Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome
    • Sirotkin, H., Morrow, B., SaintJore, B., Puech, A., DasGupta, R., Patanjali, S.R., Skoultchi, A., Weissman, S.M. and Kucherlapati, R. (1997) Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. Genomics, 42, 245-251.
    • (1997) Genomics , vol.42 , pp. 245-251
    • Sirotkin, H.1    Morrow, B.2    SaintJore, B.3    Puech, A.4    DasGupta, R.5    Patanjali, S.R.6    Skoultchi, A.7    Weissman, S.M.8    Kucherlapati, R.9
  • 69
    • 0344603630 scopus 로고    scopus 로고
    • Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome
    • Osborne, L.R., Campbell, T., Daradich, A., Scherer, S.W. and Tsui, L.C. (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
  • 70
    • 0032695657 scopus 로고    scopus 로고
    • Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23
    • in press
    • Franke, Y., Peoples, R.J. and Francke, U. (1999) Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet. Cell Genet., in press.
    • (1999) Cytogenet. Cell Genet.
    • Franke, Y.1    Peoples, R.J.2    Francke, U.3
  • 72
    • 0029041420 scopus 로고
    • The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome
    • Pérez-Jurado, L.A., Li, X. and Francke, U. (1995) The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Cytogenet. Cell Genet., 70, 246-249.
    • (1995) Cytogenet. Cell Genet. , vol.70 , pp. 246-249
    • Pérez-Jurado, L.A.1    Li, X.2    Francke, U.3
  • 73
    • 0031466972 scopus 로고    scopus 로고
    • Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23
    • Wedemeyer, N., Peoples, R., Himmelbauer, H., Lehrach, H., Francke, U. and Wanker, E.E. (1997) Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23. Genomics, 46, 313-315.
    • (1997) Genomics , vol.46 , pp. 313-315
    • Wedemeyer, N.1    Peoples, R.2    Himmelbauer, H.3    Lehrach, H.4    Francke, U.5    Wanker, E.E.6
  • 74
    • 0032522226 scopus 로고    scopus 로고
    • Assignment of the human CC chemokine MPIF-2/eotaxin-2 (SCYA24) to chromosome 7q11.23
    • Nomiyama, H., Osborne, L.R., Imai, T., Kusuda, J., Miura, R. and Tsui, L.C. (1998) Assignment of the human CC chemokine MPIF-2/eotaxin-2 (SCYA24) to chromosome 7q11.23. Genomics, 49, 339-340.
    • (1998) Genomics , vol.49 , pp. 339-340
    • Nomiyama, H.1    Osborne, L.R.2    Imai, T.3    Kusuda, J.4    Miura, R.5    Tsui, L.C.6
  • 75
    • 0032006713 scopus 로고    scopus 로고
    • Mapping of the human cysteine-rich intestinal protein gene CRIP1 to the human chromosomal segment 7q11.23
    • Garcia Barcelo, M., Tsui, S.K.W., Chim, S.S., Fung, K.P., Lee, C.Y. and Waye, M.M.Y. (1998) Mapping of the human cysteine-rich intestinal protein gene CRIP1 to the human chromosomal segment 7q11.23. Genomics, 47, 419-422.
    • (1998) Genomics , vol.47 , pp. 419-422
    • Garcia Barcelo, M.1    Tsui, S.K.W.2    Chim, S.S.3    Fung, K.P.4    Lee, C.Y.5    Waye, M.M.Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.