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Volumn 18, Issue 6, 2010, Pages 627-633

Coffin-Lowry syndrome

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PHOSPHOTRANSFERASE; PROTEIN RPS6KA3; PROTEIN RSK2; UNCLASSIFIED DRUG;

EID: 77952668959     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.189     Document Type: Review
Times cited : (113)

References (38)
  • 1
    • 0000979928 scopus 로고
    • Mental retardation with osteocartilaginous anomalies
    • Coffin GS, Siris E, Wegenkia LC: Mental retardation with osteocartilaginous anomalies. Am J Dis Child 1966; 112: 205-213.
    • (1966) Am J Dis Child , vol.112 , pp. 205-213
    • Coffin, G.S.1    Siris, E.2    Wegenkia, L.C.3
  • 2
    • 0015073716 scopus 로고
    • A new dominant gene mental retardation syndrome
    • Lowry B, Miller J R, Fraser FC: A new dominant gene mental retardation syndrome. Am J Dis Child 1971; 121: 496-500.
    • (1971) Am J Dis Child , vol.121 , pp. 496-500
    • Lowry, B.1    Miller, J.R.2    Fraser, F.C.3
  • 3
    • 0016812249 scopus 로고
    • The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndrome
    • Temtamy SA, Miller JD, Hussels-Maumenee I: The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. J Pediatr 1975; 86: 724-731.
    • (1975) J Pediatr , vol.86 , pp. 724-731
    • Temtamy, S.A.1    Miller, J.D.2    Hussels-Maumenee, I.3
  • 4
    • 0036793859 scopus 로고    scopus 로고
    • Coffin-Lowry syndrome: Clinical and molecular features
    • Hanauer A, Young ID: Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 2002; 39: 705-713. (Pubitemid 35178719)
    • (2002) Journal of Medical Genetics , vol.39 , Issue.10 , pp. 705-713
    • Hanauer, A.1    Young, I.D.2
  • 8
    • 0023723226 scopus 로고
    • Coffin-Lowry syndrome: A multicenter study
    • Gilgenkrantz S, Mujica P, Gruet P et al: Coffin-Lowry syndrome: a multicenter study. Clin Genet 1988; 34: 230-245.
    • (1988) Clin Genet , vol.34 , pp. 230-245
    • Gilgenkrantz, S.1    Mujica, P.2    Gruet, P.3
  • 9
    • 0036707788 scopus 로고    scopus 로고
    • Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes
    • Hunter AG: Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet 2002; 111: 345-355.
    • (2002) Am J Med Genet , vol.111 , pp. 345-355
    • Hunter, A.G.1
  • 10
    • 12744259708 scopus 로고    scopus 로고
    • The movement disorders of Coffin-Lowry syndrome
    • Stephenson JB, Hoffman MC, Russell AJ et al: The movement disorders of Coffin-Lowry syndrome. Brain Dev 2005; 27: 108-113.
    • (2005) Brain Dev , vol.27 , pp. 108-113
    • Stephenson, J.B.1    Hoffman, M.C.2    Russell, A.J.3
  • 11
  • 12
    • 0036097106 scopus 로고    scopus 로고
    • Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome
    • DOI 10.1086/340607
    • Zeniou M, Pannetier S, Fryns JP, Hanauer A: Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. Am J Hum Genet 2002; 70: 1421-1433. (Pubitemid 34533890)
    • (2002) American Journal of Human Genetics , vol.70 , Issue.6 , pp. 1421-1433
    • Zeniou, M.1    Pannetier, S.2    Fryns, J.-P.3    Hanauer, A.4
  • 16
    • 33745860451 scopus 로고    scopus 로고
    • Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
    • DOI 10.1111/j.1399-0004.2006.00660.x
    • Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A: Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Clin Genet 2006; 70: 161-166. (Pubitemid 44028103)
    • (2006) Clinical Genetics , vol.70 , Issue.2 , pp. 161-166
    • Delaunoy, J.P.1    Dubos, A.2    Marques Pereira, P.3    Hanauer, A.4
  • 17
    • 36348952549 scopus 로고    scopus 로고
    • The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient
    • DOI 10.1007/s00439-007-0424-1
    • Marques Pereira P, Heron D, Hanauer A: The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. Hum Genet 2007; 122: 541-543. (Pubitemid 350148966)
    • (2007) Human Genetics , vol.122 , Issue.5 , pp. 541-543
    • Marques Pereira, P.1    Heron, D.2    Hanauer, A.3
  • 20
    • 12744259706 scopus 로고    scopus 로고
    • RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes
    • Nakamura M, magata T, Mori M, Momoi MY: RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. Brain Dev 2005; 27: 114-117.
    • (2005) Brain Dev , vol.27 , pp. 114-117
    • Nakamura, M.1    Magata, T.2    Mori, M.3    Momoi, M.Y.4
  • 21
    • 33748320817 scopus 로고    scopus 로고
    • RSK aand MSK in MAP kinase signalling
    • DOI 10.1242/jcs.02950
    • Hauge C, Frodin M: RSK and MSK in MAP kinase signalling. J Cell Sci 2006; 119: 3021-3023. (Pubitemid 44322115)
    • (2006) Journal of Cell Science , vol.119 , Issue.15 , pp. 3021-3023
    • Hauge, C.1    Frodin, M.2
  • 22
    • 0036848266 scopus 로고    scopus 로고
    • Expression analysis of RSK gene family members: The RSK2 gene, mutated in Coffin Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning
    • Zeniou M, Ding T, Trivier E, Hanauer A: Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. Hum Mol Genet 2002; 11: 2929-2940.
    • (2002) Hum Mol Genet , vol.11 , pp. 2929-2940
    • Zeniou, M.1    Ding, T.2    Trivier, E.3    Hanauer, A.4
  • 23
    • 64649100268 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 associates with and tyrosine phosphorylates p90 RSK2, leading to RSK2 activation that mediates hematopoietic transformation
    • Kang S, Elf S, Dong S et al: Fibroblast growth factor receptor 3 associates with and tyrosine phosphorylates p90 RSK2, leading to RSK2 activation that mediates hematopoietic transformation. Mol Cell Biol 2009; 29: 2105-2117.
    • (2009) Mol Cell Biol , vol.29 , pp. 2105-2117
    • Kang, S.1    Elf, S.2    Dong, S.3
  • 27
    • 65549102184 scopus 로고    scopus 로고
    • Ribosomal S6 kinase 2 directly phosphor-ylates the 5-hydroxytryptamine 2A (5-HT2A) serotonin receptor, thereby modulating 5-HT2A signaling
    • Strachan RT, Sheffler DJ, Willard B et al: Ribosomal S6 kinase 2 directly phosphor-ylates the 5-hydroxytryptamine 2A (5-HT2A) serotonin receptor, thereby modulating 5-HT2A signaling. J Biol Chem 2009; 284: 5557-5573.
    • (2009) J Biol Chem , vol.284 , pp. 5557-5573
    • Strachan, R.T.1    Sheffler, D.J.2    Willard, B.3
  • 28
    • 27244433306 scopus 로고    scopus 로고
    • Ribosomal S6 kinase 2 interacts with and phosphorylates PDZ domain-containing proteins and regulates AMPA receptor transmission
    • Thomas GM, Rumbaugh GR, Harrar DB, Huganir RL: Ribosomal S6 kinase 2 interacts with and phosphorylates PDZ domain-containing proteins and regulates AMPA receptor transmission. Proc Natl Acad Sci USA 2005; 102: 15006-15011.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15006-15011
    • Thomas, G.M.1    Rumbaugh, G.R.2    Harrar, D.B.3    Huganir, R.L.4
  • 29
    • 52649130815 scopus 로고    scopus 로고
    • Codependent functions of RSK2 and the apoptosis-promoting factor TIA-1 in stress granule assembly and cell survival
    • Eisinger-Mathason TS, Andrade J, Groehler AL et al: Codependent functions of RSK2 and the apoptosis-promoting factor TIA-1 in stress granule assembly and cell survival. Mol Cell 2008; 31: 722-736.
    • (2008) Mol Cell , vol.31 , pp. 722-736
    • Eisinger-Mathason, T.S.1    Andrade, J.2    Groehler, A.L.3
  • 31
    • 55849111968 scopus 로고    scopus 로고
    • Dopaminergic system dysregulation in the mrsk2-KO mouse, an animal model of the Coffin-Lowry syndrome
    • Marques Pereira P, Gruss M, Braun K et al: Dopaminergic system dysregulation in the mrsk2-KO mouse, an animal model of the Coffin-Lowry syndrome. J Neurochem 2008; 107: 1325-1334.
    • (2008) J Neurochem , vol.107 , pp. 1325-1334
    • Marques Pereira, P.1    Gruss, M.2    Braun, K.3
  • 32
    • 0034747717 scopus 로고    scopus 로고
    • Altered extracellular signal-regulated kinase signaling and glycogen metabolism in skeletal muscle from p90 ribosomal S6 kinase 2 knockout mice
    • Dufresne SD, Bjorbaek C, El-Haschimi K et al: Altered extracellular signal-regulated kinase signaling and glycogen metabolism in skeletal muscle from p90 ribosomal S6 kinase 2 knockout mice. Mol Cell Biol 2001; 21: 81-87.
    • (2001) Mol Cell Biol , vol.21 , pp. 81-87
    • Dufresne, S.D.1    Bjorbaek, C.2    El-Haschimi, K.3
  • 33
    • 7744236541 scopus 로고    scopus 로고
    • The S6KII(rsk) gene of Drosophila melanogaster differentially affects an operant and a classical learning task
    • DOI 10.1523/JNEUROSCI.3211-04.2004
    • Putz G, Bertolucci F, Raabe T et al: The S6KII (rsk) gene of Drosophila melanogaster differentially affects an operant and a classical learning task. J Neurosci 2004; 24: 9745-9751. (Pubitemid 39463555)
    • (2004) Journal of Neuroscience , vol.24 , Issue.44 , pp. 9745-9751
    • Putz, G.1    Bertolucci, F.2    Raabe, T.3    Zars, T.4    Heisenberg, M.5
  • 34
    • 62649167798 scopus 로고    scopus 로고
    • Drosophila RSK negatively regulates bouton number at the neuromuscular junction
    • Fischer M, Raabe T, Heisenberg M, Sendtner M: Drosophila RSK negatively regulates bouton number at the neuromuscular junction. Dev Neurobiol 2009; 69: 212-220.
    • (2009) Dev Neurobiol , vol.69 , pp. 212-220
    • Fischer, M.1    Raabe, T.2    Heisenberg, M.3    Sendtner, M.4
  • 37
    • 0035160774 scopus 로고    scopus 로고
    • Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis
    • DOI 10.1002/pd.163
    • Horn D, Delaunoy JP, Kunze J: Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis. Prenat Diagn 2001; 21: 881-884. (Pubitemid 33064087)
    • (2001) Prenatal Diagnosis , vol.21 , Issue.10 , pp. 881-884
    • Horn, D.1    Delaunoy, J.-P.2    Kunze, J.3
  • 38
    • 77952672669 scopus 로고    scopus 로고
    • Coffin-Lowry syndrome
    • Cassidy S, Allanson J (eds) 2nd edn. Hoboken, NJ: Wiley-Liss
    • Hunter AG: Coffin-Lowry syndrome; in Cassidy S, Allanson J (eds): Management of Genetic Syndromes, 2nd edn. Hoboken, NJ: Wiley-Liss, 2005; 127-138.
    • (2005) Management of Genetic Syndromes , pp. 127-138
    • Hunter, A.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.