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Volumn 47, Issue 2, 2010, Pages 91-98

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CASE REPORT; CEREBELLUM; CHILD; CLEFT PALATE; CONGENITAL MALFORMATION; EMBRYO; EMBRYO DEVELOPMENT; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL CORTEX; GENE; GENE DISRUPTION; GENE EXPRESSION; HIPPOCAMPUS; HUMAN; INFECTION; KIDNEY DYSPLASIA; MENTAL DEFICIENCY; MOUSE; MUSCLE HYPOTONIA; NONHUMAN; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEIZURE; ST5 GENE;

EID: 77349089308     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.069799     Document Type: Article
Times cited : (9)

References (17)
  • 3
    • 34548284953 scopus 로고    scopus 로고
    • Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum
    • Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet 2007;81:519-29.
    • (2007) Am J Hum Genet , vol.81 , pp. 519-529
    • Thiel, C.T.1    Mortier, G.2    Kaitila, I.3    Reis, A.4    Rauch, A.5
  • 4
    • 37249022297 scopus 로고    scopus 로고
    • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. Cryptic deletions are a common finding in balanced reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007;44:750-62.
    • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007;44:750-62.
  • 5
    • 0033561619 scopus 로고    scopus 로고
    • Expression of an isoform of the novel signal transduction protein ST5 is linked to cell morphology
    • Hubbs AE, Majidi M, Lichy JH. Expression of an isoform of the novel signal transduction protein ST5 is linked to cell morphology. Oncogene 1999;18:2519-25.
    • (1999) Oncogene , vol.18 , pp. 2519-2525
    • Hubbs, A.E.1    Majidi, M.2    Lichy, J.H.3
  • 6
    • 33846039019 scopus 로고    scopus 로고
    • Hubbard TJ, Aken BL, Beal K, Ballester B, Caccamo M, Chen Y, Clarke L, Coates G, Cunningham F, Cutts T, Down T, Dyer SC, Eyre T, Fitzgerald S, Fernandez-Banet J, Gräf S, Haider S, Hammond M, Holland R, Howe KL, Howe K, Johnson N, Jenkinson A, Kähäri A, Keefe D, Kokocinski F, Kulesha E, Lawson D, Longden I, Megy K, Meidl P, Overduin B, Parker A, Pritchard B, Prlic A, Rice S, Rios D, Schuster M, Sealy I, Slater G, Smedley D, Spudich G, Trevanion S, Vilella AJ, Vogel J, White S, Wood M, Birney E, Cox T, Curwen V, Durbin R, Fernandez-Suarez XM, Herrero J, Hubbard TJ, Kasprzyk A, Proctor G, Smith J, Ureta-Vidal A, Searle S. Ensembl 2007. Nucleic Acids Res 2007;35 (Database issue):D610-17.
    • Hubbard TJ, Aken BL, Beal K, Ballester B, Caccamo M, Chen Y, Clarke L, Coates G, Cunningham F, Cutts T, Down T, Dyer SC, Eyre T, Fitzgerald S, Fernandez-Banet J, Gräf S, Haider S, Hammond M, Holland R, Howe KL, Howe K, Johnson N, Jenkinson A, Kähäri A, Keefe D, Kokocinski F, Kulesha E, Lawson D, Longden I, Megy K, Meidl P, Overduin B, Parker A, Pritchard B, Prlic A, Rice S, Rios D, Schuster M, Sealy I, Slater G, Smedley D, Spudich G, Trevanion S, Vilella AJ, Vogel J, White S, Wood M, Birney E, Cox T, Curwen V, Durbin R, Fernandez-Suarez XM, Herrero J, Hubbard TJ, Kasprzyk A, Proctor G, Smith J, Ureta-Vidal A, Searle S. Ensembl 2007. Nucleic Acids Res 2007;35 (Database issue):D610-17.
  • 8
    • 0037195135 scopus 로고    scopus 로고
    • Yamaguchi K, Tanaka M, Mizoguchi A, Hirata Y, Ishizaki H, Kaneko K, Miyoshi J, Takai Y. A GDP/GTP exchange protein for the Rab3 small G protein family up-regulates a postdocking step of synaptic exocytosis in central synapses. Proc Natl Acad Sci U S A 2002;99:14536-41.
    • Yamaguchi K, Tanaka M, Mizoguchi A, Hirata Y, Ishizaki H, Kaneko K, Miyoshi J, Takai Y. A GDP/GTP exchange protein for the Rab3 small G protein family up-regulates a postdocking step of synaptic exocytosis in central synapses. Proc Natl Acad Sci U S A 2002;99:14536-41.
  • 10
    • 0029844099 scopus 로고    scopus 로고
    • Differential expression of the human ST5 gene in HeLa-fibroblast hybrid cell lines mediated by YY1: Evidence that YY1 plays a part in tumor suppression
    • Lichy JH, Majidi M, Elbaum J, Tsai MM. Differential expression of the human ST5 gene in HeLa-fibroblast hybrid cell lines mediated by YY1: evidence that YY1 plays a part in tumor suppression. Nucleic Acids Res 1996;24:4700-8.
    • (1996) Nucleic Acids Res , vol.24 , pp. 4700-4708
    • Lichy, J.H.1    Majidi, M.2    Elbaum, J.3    Tsai, M.M.4
  • 11
    • 0034008934 scopus 로고    scopus 로고
    • Deletion of the COOH terminus converts the ST5 p70 protein from an inhibitor of RAS signaling to an activator with transforming activity in NIH-3T3 cells
    • Majidi M, Gutkind JS, Lichy JH. Deletion of the COOH terminus converts the ST5 p70 protein from an inhibitor of RAS signaling to an activator with transforming activity in NIH-3T3 cells. J Biol Chem 2000;275:6560-5.
    • (2000) J Biol Chem , vol.275 , pp. 6560-6565
    • Majidi, M.1    Gutkind, J.S.2    Lichy, J.H.3
  • 12
    • 0032568848 scopus 로고    scopus 로고
    • Activation of extracellular signal-regulated kinase 2 by a novel Abl-binding protein, ST5
    • Majidi M, Hubbs AE, Lichy JH. Activation of extracellular signal-regulated kinase 2 by a novel Abl-binding protein, ST5. J Biol Chem 1998;273:16608-14.
    • (1998) J Biol Chem , vol.273 , pp. 16608-16614
    • Majidi, M.1    Hubbs, A.E.2    Lichy, J.H.3
  • 13
    • 0023933233 scopus 로고
    • Complex chromosomal rearrangement involving chromosomes 11, 13 and 21
    • Kleczkowska A, Fryns JP, Jaeken J, Van den Berghe H. Complex chromosomal rearrangement involving chromosomes 11, 13 and 21. Ann Genet 1988;31:126-8.
    • (1988) Ann Genet , vol.31 , pp. 126-128
    • Kleczkowska, A.1    Fryns, J.P.2    Jaeken, J.3    Van den Berghe, H.4
  • 17
    • 33751329250 scopus 로고    scopus 로고
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature 2006;444:444e54.
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature 2006;444:444e54.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.