메뉴 건너뛰기




Volumn 2, Issue 3-5, 2011, Pages 213-216

Mild to moderate intellectual disability and significant speech and language deficits in patients with FOXP1 deletions and mutations

Author keywords

Developmental delay; FOXP1; Intellectual disability; Speech deficit

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR; FOXP1 PROTEIN; OXCARBAZEPINE; TRANSCRIPTION FACTOR FOXP2; UNCLASSIFIED DRUG;

EID: 84860212568     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000330916     Document Type: Article
Times cited : (12)

References (17)
  • 1
    • 0036387193 scopus 로고    scopus 로고
    • Forkhead transcription factors: Key players in development and metabolism
    • Carlsson P, Mahlapuu M: Forkhead transcription factors: key players in development and metabolism. Dev Biol 250: 1-23 (2002)
    • (2002) Dev. Biol. , vol.250 , pp. 1-23
    • Carlsson, P.1    Mahlapuu, M.2
  • 2
    • 77958510976 scopus 로고    scopus 로고
    • Chiari I malformation delayed gross motor skills severe speech delay and epileptiform discharges in a child with FOXP1 haploinsufficiency
    • Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, et al: Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet 18: 1216-1220 (2010)
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 1216-1220
    • Carr, C.W.1    Moreno-De-Luca, D.2    Parker, C.3    Zimmerman, H.H.4    Ledbetter, N.5
  • 3
    • 47749149893 scopus 로고    scopus 로고
    • Hox Repertoires for Motor Neuron Diversity and Connectivity Gated by a Single Accessory Factor, FoxP1
    • DOI 10.1016/j.cell.2008.06.019, PII S009286740800771X
    • Dasen JS, De Camilli A, Wang B, Tucker PW, Jessell TM: Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1. Cell 134: 304-316 (2008) (Pubitemid 352024390)
    • (2008) Cell , vol.134 , Issue.2 , pp. 304-316
    • Dasen, J.S.1    De Camilli, A.2    Wang, B.3    Tucker, P.W.4    Jessell, T.M.5
  • 5
    • 78249268820 scopus 로고    scopus 로고
    • De novo mutations in FOXP1 in cases with intellectual disability autism and language impairment
    • Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, et al: De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 87: 671-678 (2010)
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 671-678
    • Hamdan, F.F.1    Daoud, H.2    Rochefort, D.3    Piton, A.4    Gauthier, J.5
  • 6
    • 77957896206 scopus 로고    scopus 로고
    • Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
    • Horn D, Kapeller J, Rivera-Brugues N, Moog U, Lorenz-Depiereux B, et al: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat 31:E1851-E1860 (2010)
    • (2010) Hum. Mutat. , vol.31
    • Horn, D.1    Kapeller, J.2    Rivera-Brugues, N.3    Moog, U.4    Lorenz-Depiereux, B.5
  • 9
    • 0035807360 scopus 로고    scopus 로고
    • A forkhead-domain gene is mutated in a severe speech and language disorder
    • DOI 10.1038/35097076
    • Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP: A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413: 519-523 (2001) (Pubitemid 32938749)
    • (2001) Nature , vol.413 , Issue.6855 , pp. 519-523
    • Lai, C.S.L.1    Fisher, S.E.2    Hurst, J.A.3    Vargha-Khadem, F.4    Monaco, A.P.5
  • 10
    • 0347986673 scopus 로고    scopus 로고
    • Transcriptional and DNA Binding Activity of the Foxp1/2/4 Family Is Modulated by Heterotypic and Homotypic Protein Interactions
    • DOI 10.1128/MCB.24.2.809-822.2004
    • Li S, Weidenfeld J, Morrisey EE: Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions. Mol Cell Biol 24: 809-822 (2004) (Pubitemid 38057931)
    • (2004) Molecular and Cellular Biology , vol.24 , Issue.2 , pp. 809-822
    • Li, S.1    Weidenfeld, J.2    Morrisey, E.E.3
  • 12
    • 67349164801 scopus 로고    scopus 로고
    • A 785kb deletion of 3p14.1p13 including the FOXP1 gene associated with speech delay contractures hypertonia and blepharophimosis
    • Pariani MJ, Spencer A, Graham JM Jr, Rimoin DL: A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur J Med Genet 52: 123-127 (2009)
    • (2009) Eur. J. Med. Genet. , vol.52 , pp. 123-127
    • Pariani, M.J.1    Spencer, A.2    Graham, Jr.J.M.3    Rimoin, D.L.4
  • 13
    • 47749129203 scopus 로고    scopus 로고
    • Coordinated Actions of the Forkhead Protein Foxp1 and Hox Proteins in the Columnar Organization of Spinal Motor Neurons
    • DOI 10.1016/j.neuron.2008.06.025, PII S0896627308005680
    • Rousso DL, Gaber ZB, Wellik D, Morrisey EE, Novitch BG: Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons. Neuron 59: 226-240 (2008) (Pubitemid 352033689)
    • (2008) Neuron , vol.59 , Issue.2 , pp. 226-240
    • Rousso, D.L.1    Gaber, Z.B.2    Wellik, D.3    Morrisey, E.E.4    Novitch, B.G.5
  • 15
    • 0035920153 scopus 로고    scopus 로고
    • Characterization of a new subfamily of winged-helix forkhead fox genes that are expressed in the lung and act as transcriptional repressors
    • Shu W, Yang H, Zhang L, Lu MM, Morrisey EE: Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem 276: 27488-27497 (2001)
    • (2001) J. Biol. Chem. , vol.276 , pp. 27488-27497
    • Shu, W.1    Yang, H.2    Zhang, L.3    Lu, M.M.4    Morrisey, E.E.5
  • 16
    • 1842610982 scopus 로고    scopus 로고
    • Parallel FoxP1 and FoxP2 Expression in Songbird and Human Brain Predicts Functional Interaction
    • DOI 10.1523/JNEUROSCI.5589-03.2004
    • Teramitsu I, Kudo LC, London SE, Geschwind DH, White SA: Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. J Neurosci 24: 3152-3163 (2004) (Pubitemid 38451882)
    • (2004) Journal of Neuroscience , vol.24 , Issue.13 , pp. 3152-3163
    • Teramitsu, I.1    Kudo, L.C.2    London, S.E.3    Geschwind, D.H.4    White, S.A.5
  • 17
    • 6944232153 scopus 로고    scopus 로고
    • Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation
    • DOI 10.1242/dev.01287
    • Wang B, Weidenfeld J, Lu MM, Maika S, Kuziel WA, et al: Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation. Development 131: 4477-4487 (2004) (Pubitemid 39409689)
    • (2004) Development , vol.131 , Issue.18 , pp. 4477-4487
    • Wang, B.1    Weidenfeld, J.2    Lu, M.M.3    Maika, S.4    Kuziel, W.A.5    Morrisey, E.E.6    Tucker, P.W.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.