메뉴 건너뛰기




Volumn 36, Issue 4, 2009, Pages 251-256

Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Author keywords

BASP1; candidate gene; facial palsy; M bius syndrome; mutation screening; non coding RNA; transcribed processed pseudogene

Indexed keywords

ARTICLE; CHROMOSOME 13Q; CHROMOSOME 15Q; CHROMOSOME 5P; CLINICAL ARTICLE; DNA FLANKING REGION; FACIAL NERVE DISEASE; FEMALE; GENE MUTATION; HUMAN; MALE; MOEBIUS SYNDROME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PSEUDOGENE; SCREENING;

EID: 64349089501     PISSN: 16738527     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1673-8527(08)60112-5     Document Type: Article
Times cited : (3)

References (34)
  • 2
    • 33745831247 scopus 로고    scopus 로고
    • Neuropsychiatric findings of Möbius sequence-a review
    • Briegel W. Neuropsychiatric findings of Möbius sequence-a review. Clin. Genet. 70 (2006) 91-97
    • (2006) Clin. Genet. , vol.70 , pp. 91-97
    • Briegel, W.1
  • 3
    • 0024795290 scopus 로고
    • Congenital oculo-facial paralysis (Moebius syndrome): Evidence of dominant inheritance in two families
    • Dotti M.T., Federico A., Palmeri S., and Guazzi G.C. Congenital oculo-facial paralysis (Moebius syndrome): Evidence of dominant inheritance in two families. Acta Neurol. (Napoli) 11 (1989) 434-438
    • (1989) Acta Neurol. (Napoli) , vol.11 , pp. 434-438
    • Dotti, M.T.1    Federico, A.2    Palmeri, S.3    Guazzi, G.C.4
  • 4
    • 0034717512 scopus 로고    scopus 로고
    • Shared and unique roles of CAP23 and GAP43 in actin regulation, neurite outgrowth, and anatomical plasticity
    • Frey D., Laux T., Xu L., Schneider C., and Caroni P. Shared and unique roles of CAP23 and GAP43 in actin regulation, neurite outgrowth, and anatomical plasticity. J. Cell Biol. 149 (2000) 1443-1454
    • (2000) J. Cell Biol. , vol.149 , pp. 1443-1454
    • Frey, D.1    Laux, T.2    Xu, L.3    Schneider, C.4    Caroni, P.5
  • 5
    • 0030896761 scopus 로고    scopus 로고
    • Uterine contraction in the development of Möbius syndrome
    • Graf W.D., and Shepard T.H. Uterine contraction in the development of Möbius syndrome. J. Child Neurol. 12 (1997) 225-227
    • (1997) J. Child Neurol. , vol.12 , pp. 225-227
    • Graf, W.D.1    Shepard, T.H.2
  • 6
    • 17844396017 scopus 로고    scopus 로고
    • Transcribed processed pseudogenes in the human genome: An intermediate form of expressed retrosequence lacking protein-coding ability
    • Harrison P.M., Zheng D., Zhang Z., Carriero N., and Gerstein M. Transcribed processed pseudogenes in the human genome: An intermediate form of expressed retrosequence lacking protein-coding ability. Nucleic Acids Res. 33 (2005) 2374-2383
    • (2005) Nucleic Acids Res. , vol.33 , pp. 2374-2383
    • Harrison, P.M.1    Zheng, D.2    Zhang, Z.3    Carriero, N.4    Gerstein, M.5
  • 7
    • 3843143954 scopus 로고    scopus 로고
    • A new role for expressed pseudogenes as ncRNA: Regulation of mRNA stability of its homologous coding gene
    • Hirotsune S. A new role for expressed pseudogenes as ncRNA: Regulation of mRNA stability of its homologous coding gene. J. Mol. Med. 82 (2004) 414-422
    • (2004) J. Mol. Med. , vol.82 , pp. 414-422
    • Hirotsune, S.1
  • 10
    • 1342343012 scopus 로고    scopus 로고
    • Motor, sensory and autonomic nerve terminals containing NAP-22 immunoreactivity in the rat muscle
    • Iino S., Taguchi K., Maekawa S., and Nojyo Y. Motor, sensory and autonomic nerve terminals containing NAP-22 immunoreactivity in the rat muscle. Brain Res. 1002 (2004) 142-150
    • (2004) Brain Res. , vol.1002 , pp. 142-150
    • Iino, S.1    Taguchi, K.2    Maekawa, S.3    Nojyo, Y.4
  • 11
    • 0024811772 scopus 로고
    • MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial-limb disruption sequence? Am
    • Journel H., Roussey M., and Le Marec B. MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial-limb disruption sequence? Am. J. Med. Genet. 34 (1989) 506-510
    • (1989) J. Med. Genet. , vol.34 , pp. 506-510
    • Journel, H.1    Roussey, M.2    Le Marec, B.3
  • 12
    • 0037657895 scopus 로고    scopus 로고
    • Binding of NAP-22, a calmodulin-binding neuronal protein, to raft-like domains in model membranes
    • Khan T.K., Yang B., Thompson N.L., Maekawa S., Epand R.M., and Jacobson K. Binding of NAP-22, a calmodulin-binding neuronal protein, to raft-like domains in model membranes. Biochemistry 42 (2003) 4780-4786
    • (2003) Biochemistry , vol.42 , pp. 4780-4786
    • Khan, T.K.1    Yang, B.2    Thompson, N.L.3    Maekawa, S.4    Epand, R.M.5    Jacobson, K.6
  • 13
    • 6744226674 scopus 로고
    • Familiaere kongenitale Motilitaetsstoerungen der Augen
    • Krueger K.E., and Friedrich D. Familiaere kongenitale Motilitaetsstoerungen der Augen. Klin. Mbl. Augenheilk. 142 (1963) 101-117
    • (1963) Klin. Mbl. Augenheilk. , vol.142 , pp. 101-117
    • Krueger, K.E.1    Friedrich, D.2
  • 14
    • 0034717707 scopus 로고    scopus 로고
    • GAP43, MARCKS, and CAP23 modulate PI(4,5)P(2) at plasmalemmal rafts, and regulate cell cortex actin dynamics through a common mechanism
    • Laux T., Fukami K., Thelen M., Golub T., Frey D., and Caroni P. GAP43, MARCKS, and CAP23 modulate PI(4,5)P(2) at plasmalemmal rafts, and regulate cell cortex actin dynamics through a common mechanism. J. Cell Biol. 149 (2000) 1455-1472
    • (2000) J. Cell Biol. , vol.149 , pp. 1455-1472
    • Laux, T.1    Fukami, K.2    Thelen, M.3    Golub, T.4    Frey, D.5    Caroni, P.6
  • 15
    • 0019777410 scopus 로고
    • Heterogeneity and pleiotropism in the Moebius syndrome
    • Legum C., Godel V., and Nemet P. Heterogeneity and pleiotropism in the Moebius syndrome. Clin. Genet. 20 (1981) 254-259
    • (1981) Clin. Genet. , vol.20 , pp. 254-259
    • Legum, C.1    Godel, V.2    Nemet, P.3
  • 16
    • 0027998997 scopus 로고
    • Inhibitory effect of calmodulin on phosphorylation of NAP-22 with protein kinase C
    • Maekawa S., Murofushi H., and Nakamura S. Inhibitory effect of calmodulin on phosphorylation of NAP-22 with protein kinase C. J. Biol. Chem. 269 (1994) 19462-19465
    • (1994) J. Biol. Chem. , vol.269 , pp. 19462-19465
    • Maekawa, S.1    Murofushi, H.2    Nakamura, S.3
  • 17
    • 30744460935 scopus 로고    scopus 로고
    • A genetic screen for mutations that affect cranial nerve development in the mouse
    • Mar L., Rivkin E., Kim D.Y., Yu J.Y., and Cordes S.P. A genetic screen for mutations that affect cranial nerve development in the mouse. J. Neurosci. 25 (2005) 11787-11795
    • (2005) J. Neurosci. , vol.25 , pp. 11787-11795
    • Mar, L.1    Rivkin, E.2    Kim, D.Y.3    Yu, J.Y.4    Cordes, S.P.5
  • 18
    • 0034009881 scopus 로고    scopus 로고
    • Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
    • Medina M., Marinescu R.C., Overhauser J., and Kosik K.S. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 63 (2000) 157-164
    • (2000) Genomics , vol.63 , pp. 157-164
    • Medina, M.1    Marinescu, R.C.2    Overhauser, J.3    Kosik, K.S.4
  • 21
    • 31444445966 scopus 로고    scopus 로고
    • Retroposition of processed pseudogenes: The impact of RNA stability and translational control
    • Pavlicek A., Gentles A.J., Paces J., Paces V., and Jurka J. Retroposition of processed pseudogenes: The impact of RNA stability and translational control. Trends Genet. 22 (2006) 69-73
    • (2006) Trends Genet. , vol.22 , pp. 69-73
    • Pavlicek, A.1    Gentles, A.J.2    Paces, J.3    Paces, V.4    Jurka, J.5
  • 23
    • 0030200110 scopus 로고    scopus 로고
    • PEST sequences and regulation by proteolysis
    • Rechsteiner M., and Rogers S.W. PEST sequences and regulation by proteolysis. Trends Biochem. Sci. 21 (1996) 267-271
    • (1996) Trends Biochem. Sci. , vol.21 , pp. 267-271
    • Rechsteiner, M.1    Rogers, S.W.2
  • 26
    • 0025884458 scopus 로고
    • Deletion of chromosome 13 in Moebius syndrome
    • Slee J.J., Smart R.D., and Viljoen D.L. Deletion of chromosome 13 in Moebius syndrome. J. Med. Genet. 28 (1991) 413-414
    • (1991) J. Med. Genet. , vol.28 , pp. 413-414
    • Slee, J.J.1    Smart, R.D.2    Viljoen, D.L.3
  • 27
    • 3042819567 scopus 로고    scopus 로고
    • Ergotamine as a possible cause of Möbius sequence: Additional clinical observation
    • Smets K., Zecic A., and Willems J. Ergotamine as a possible cause of Möbius sequence: Additional clinical observation. J. Child Neurol. 19 (2004) 398
    • (2004) J. Child Neurol. , vol.19 , pp. 398
    • Smets, K.1    Zecic, A.2    Willems, J.3
  • 28
    • 0027337985 scopus 로고
    • Möbius sequence: Further in vivo support for the subclavian artery supply disruption sequence
    • St Charles S., DiMario Jr. F.J., and Grunnet M.L. Möbius sequence: Further in vivo support for the subclavian artery supply disruption sequence. Am. J. Med. Genet. 47 (1993) 289-293
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 289-293
    • St Charles, S.1    DiMario Jr., F.J.2    Grunnet, M.L.3
  • 33
    • 34948831152 scopus 로고    scopus 로고
    • Noncoding but nonexpendable: Transcriptional regulation by large noncoding RNA in eukaryotes
    • Yazgan O., and Krebs J.E. Noncoding but nonexpendable: Transcriptional regulation by large noncoding RNA in eukaryotes. Biochem. Cell Biol. 85 (2007) 484-496
    • (2007) Biochem. Cell Biol. , vol.85 , pp. 484-496
    • Yazgan, O.1    Krebs, J.E.2
  • 34
    • 0017626152 scopus 로고
    • Three-generation pedigree of a Mobius syndrome variant with chromosome translocation
    • Ziter F.A., Wiser W.C., and Robinson A. Three-generation pedigree of a Mobius syndrome variant with chromosome translocation. Arch. Neurol. 34 (1977) 437-442
    • (1977) Arch. Neurol. , vol.34 , pp. 437-442
    • Ziter, F.A.1    Wiser, W.C.2    Robinson, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.