메뉴 건너뛰기




Volumn 154, Issue 1, 2010, Pages 22-28

Early pathogenesis of holoprosencephaly

Author keywords

Cebocephaly; Cyclopia; Ethmocephaly; Frontonasal prominence; Human embryo; Notochord; Prechordal plate; Premaxillary agenesis; Prosencephalon; Sonic hedgehog (Shh); Synophthalmia; Telencephalon

Indexed keywords

CYCLOPIA; EMBRYO DEVELOPMENT; ENVIRONMENTAL FACTOR; FOREBRAIN; HISTOPATHOLOGY; HOLOPROSENCEPHALY; HUMAN; HYPOTELORISM; MORPHOGENESIS; NEURAL TUBE; NOTOCHORD; PATHOGENESIS; PHENOTYPIC VARIATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SPONTANEOUS ABORTION; TELENCEPHALON;

EID: 76149131017     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30248     Document Type: Review
Times cited : (30)

References (46)
  • 1
    • 84982339842 scopus 로고
    • A study of cyclopia in Amblystoma punctatum with special reference to the mesoderm
    • Adelmann HB. 1934. A study of cyclopia in Amblystoma punctatum with special reference to the mesoderm. J Exp Zool 67:217-281.
    • (1934) J Exp Zool , vol.67 , pp. 217-281
    • Adelmann, H.B.1
  • 2
    • 76149119018 scopus 로고    scopus 로고
    • Adelmann HB. 1936a. The problem of cyclopia, Pt. I. Q Rev Biol 2:161-187.
    • Adelmann HB. 1936a. The problem of cyclopia, Pt. I. Q Rev Biol 2:161-187.
  • 3
    • 0001728431 scopus 로고
    • The problem of cyclopia, Pt. II
    • Adelmann HB. 1936b. The problem of cyclopia, Pt. II. Q Rev Biol 2:284-304.
    • (1936) Q Rev Biol , vol.2 , pp. 284-304
    • Adelmann, H.B.1
  • 4
    • 43249096303 scopus 로고    scopus 로고
    • Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly
    • Aoto K, Shikata Y, Higashiyama D, Shiota K, Motoyama J. 2008. Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly. Birth Defects Res Part A 82:224-231.
    • (2008) Birth Defects Res Part , vol.A 82 , pp. 224-231
    • Aoto, K.1    Shikata, Y.2    Higashiyama, D.3    Shiota, K.4    Motoyama, J.5
  • 7
    • 0024317567 scopus 로고
    • Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology
    • Cohen MM Jr. 1989a. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 40:211-235.
    • (1989) Teratology , vol.40 , pp. 211-235
    • Cohen Jr., M.M.1
  • 8
    • 0024427123 scopus 로고
    • Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities
    • Cohen MM Jr. 1989b. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
    • (1989) Am J Med Genet , vol.34 , pp. 271-288
    • Cohen Jr., M.M.1
  • 9
    • 0035888111 scopus 로고    scopus 로고
    • On the definition of holoprosencephaly
    • Cohen MM Jr. 2001. On the definition of holoprosencephaly. Am J Med Genet 103: 183-187.
    • (2001) Am J Med Genet , vol.103 , pp. 183-187
    • Cohen Jr., M.M.1
  • 10
    • 0037089999 scopus 로고    scopus 로고
    • Teratogenesis of holoprosencephaly
    • Cohen MM Jr, Shiota K. 2002. Teratogenesis of holoprosencephaly. Am J Med Genet 109:1-15.
    • (2002) Am J Med Genet , vol.109 , pp. 1-15
    • Cohen Jr, M.M.1    Shiota, K.2
  • 11
    • 0015068744 scopus 로고    scopus 로고
    • Cohen MMJr, Jirásek JE, GuzmanRT, Gorlin RJ, Peterson MQ. 1971. Holoprosencephaly and facial dysmorphia: Nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser 7:125-135.
    • Cohen MMJr, Jirásek JE, GuzmanRT, Gorlin RJ, Peterson MQ. 1971. Holoprosencephaly and facial dysmorphia: Nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser 7:125-135.
  • 12
    • 0001400172 scopus 로고
    • Holoprosencephaly (cyclopia-arhinencephaly)
    • Vinken PJ, Bruyn GW, editors, Amsterdam. North-Holland: pp
    • DeMyer WE. 1977. Holoprosencephaly (cyclopia-arhinencephaly). In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology. Amsterdam. North-Holland: pp 431-478.
    • (1977) Handbook of clinical neurology , pp. 431-478
    • DeMyer, W.E.1
  • 13
    • 84883840171 scopus 로고
    • The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly)
    • DeMyer WE, Zeman W, Palmer CG. 1964. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256-263.
    • (1964) Pediatrics , vol.34 , pp. 256-263
    • DeMyer, W.E.1    Zeman, W.2    Palmer, C.G.3
  • 14
    • 0642369737 scopus 로고    scopus 로고
    • The interplay of genetic and environmental factors in craniofacial morphogenesis: Holoprosencephaly and the role of cholesterol
    • Edison R, Muenke M. 2003. The interplay of genetic and environmental factors in craniofacial morphogenesis: Holoprosencephaly and the role of cholesterol. Congenit Anom Kyoto 43:1-21.
    • (2003) Congenit Anom Kyoto , vol.43 , pp. 1-21
    • Edison, R.1    Muenke, M.2
  • 16
    • 0029068123 scopus 로고
    • Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube
    • Erickson J, Muhr J, Placzek M, Lints T, Jessell TM, Edlund T. 1995. Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube. Cell 81:747-756.
    • (1995) Cell , vol.81 , pp. 747-756
    • Erickson, J.1    Muhr, J.2    Placzek, M.3    Lints, T.4    Jessell, T.M.5    Edlund, T.6
  • 17
    • 24244434480 scopus 로고
    • Cycloce céphalie: Morphogènése et méchanisme de sa production.
    • Giroud A, Delmas A, Matinet M. 1963. Cycloce céphalie: Morphogènése et méchanisme de sa production. Arch Anat 46:295-311.
    • (1963) Arch Anat , vol.46 , pp. 295-311
    • Giroud, A.1    Delmas, A.2    Matinet, M.3
  • 18
    • 0031728633 scopus 로고    scopus 로고
    • Holoprosencephaly: A defect in brain patterning
    • Golden JA. 1998. Holoprosencephaly: A defect in brain patterning. J Neuropathol Exp Neurol 57:991-999.
    • (1998) J Neuropathol Exp Neurol , vol.57 , pp. 991-999
    • Golden, J.A.1
  • 21
    • 34447508442 scopus 로고    scopus 로고
    • Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period
    • Higashiyama D, Saitsu H, Komada M, Takigawa T, Ishibashi M, Shiota K. 2007. Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period. Birth Defects Res (Part A) 79:513-523.
    • (2007) Birth Defects Res (Part A) , vol.79 , pp. 513-523
    • Higashiyama, D.1    Saitsu, H.2    Komada, M.3    Takigawa, T.4    Ishibashi, M.5    Shiota, K.6
  • 22
    • 0032749014 scopus 로고    scopus 로고
    • The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
    • Hu D, Helms JA. 1999. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126:4873-4884.
    • (1999) Development , vol.126 , pp. 4873-4884
    • Hu, D.1    Helms, J.A.2
  • 23
    • 34250875089 scopus 로고    scopus 로고
    • Region-specific requirement for cholesterol modification of sonic hedgehog in patterning the telencephalon and spinal cord
    • Huang X, Litingtung Y, Chiang C. 2007a. Region-specific requirement for cholesterol modification of sonic hedgehog in patterning the telencephalon and spinal cord. Development 134:2095-2105.
    • (2007) Development , vol.134 , pp. 2095-2105
    • Huang, X.1    Litingtung, Y.2    Chiang, C.3
  • 24
    • 34447329291 scopus 로고    scopus 로고
    • Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: Implications for human holoprosencephaly
    • Huang X, Litingtung Y, Chiang C. 2007b. Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: Implications for human holoprosencephaly. Hum Mol Genet 16:1454-1468.
    • (2007) Hum Mol Genet , vol.16 , pp. 1454-1468
    • Huang, X.1    Litingtung, Y.2    Chiang, C.3
  • 25
    • 0018621665 scopus 로고
    • Some abnormal patterns of development in the craniofacial region
    • Johnston MC, Sulik KK. 1979. Some abnormal patterns of development in the craniofacial region. Birth Defects Orig Artic Ser 15:23-42.
    • (1979) Birth Defects Orig Artic Ser , vol.15 , pp. 23-42
    • Johnston, M.C.1    Sulik, K.K.2
  • 27
    • 0031043536 scopus 로고    scopus 로고
    • A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate
    • Li H, Tierney C, Wen L, Wu JY, Rao Y. 1997. A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate. Development 124:603-615.
    • (1997) Development , vol.124 , pp. 603-615
    • Li, H.1    Tierney, C.2    Wen, L.3    Wu, J.Y.4    Rao, Y.5
  • 28
    • 76149104266 scopus 로고    scopus 로고
    • Lipinski RJ, Godin EA, O'Leary-Moore SK, Parnell SE, Sulik KK. 2010. Genesis of teratogen-induced holoprosencephaly in mice. Am J Med Genet Part C Semin Med Genet 154C:29-42.
    • Lipinski RJ, Godin EA, O'Leary-Moore SK, Parnell SE, Sulik KK. 2010. Genesis of teratogen-induced holoprosencephaly in mice. Am J Med Genet Part C Semin Med Genet 154C:29-42.
  • 29
    • 0028864430 scopus 로고
    • Midline signaling is required for Pax gene regulation and patterning of the eyes
    • Macdonald R, Barth K, Xu Q, Holder N, Mikkola I, Wilson S. 1995. Midline signaling is required for Pax gene regulation and patterning of the eyes. Development 121: 3267-3278.
    • (1995) Development , vol.121 , pp. 3267-3278
    • Macdonald, R.1    Barth, K.2    Xu, Q.3    Holder, N.4    Mikkola, I.5    Wilson, S.6
  • 30
    • 0041819804 scopus 로고    scopus 로고
    • Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability
    • Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. 2003. Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. Am J Med Genet Part A 117A:112-115.
    • (2003) Am J Med Genet , vol.117 A , Issue.PART A , pp. 112-115
    • Marini, M.1    Cusano, R.2    De Biasio, P.3    Caroli, F.4    Lerone, M.5    Silengo, M.6    Ravazzolo, R.7    Seri, M.8    Camera, G.9
  • 31
    • 0017741766 scopus 로고
    • Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases
    • Matsunaga E, Shiota K. 1977. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-272.
    • (1977) Teratology , vol.16 , pp. 261-272
    • Matsunaga, E.1    Shiota, K.2
  • 32
    • 0001373955 scopus 로고    scopus 로고
    • Holoprosencephaly
    • Scriver CR, Beaydet AL, Sly WS, Valle D, Childs B, KinzlerKW, Vogelstein B, editors, 8th edition. New York: McGraw-Hill. pp
    • Muenke M, Beachy PA. 2001. Holoprosencephaly. In: Scriver CR, Beaydet AL, Sly WS, Valle D, Childs B, KinzlerKW, Vogelstein B, editors. The metabolic and molecular basis of inherited disease, Vol.4, 8th edition. New York: McGraw-Hill. pp 6203-6230.
    • (2001) The metabolic and molecular basis of inherited disease , vol.4 , pp. 6203-6230
    • Muenke, M.1    Beachy, P.A.2
  • 33
    • 0024401109 scopus 로고
    • Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain
    • Müller F, O'Rahilly R. 1989. Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat 185:391-414.
    • (1989) Am J Anat , vol.185 , pp. 391-414
    • Müller, F.1    O'Rahilly, R.2
  • 35
    • 0030730266 scopus 로고    scopus 로고
    • Patterning of the chick forebrain anlage by the prechordal plate
    • Pera EM, Kessel M. 1997. Patterning of the chick forebrain anlage by the prechordal plate. Development 124:4153-4162.
    • (1997) Development , vol.124 , pp. 4153-4162
    • Pera, E.M.1    Kessel, M.2
  • 37
    • 76149133124 scopus 로고    scopus 로고
    • Roessler E, Muenke M. 2010. The molecular genetics of holoprosencephaly. Am J Med Genet Part C Semin Med Genet 154C:52-61.
    • Roessler E, Muenke M. 2010. The molecular genetics of holoprosencephaly. Am J Med Genet Part C Semin Med Genet 154C:52-61.
  • 38
  • 39
    • 0030796030 scopus 로고    scopus 로고
    • Inductive interactions direct early regionalization of the mouse forebrain
    • Shimamura K, Rubinstein JL. 1997. Inductive interactions direct early regionalization of the mouse forebrain. Development 124: 2709-2718.
    • (1997) Development , vol.124 , pp. 2709-2718
    • Shimamura, K.1    Rubinstein, J.L.2
  • 40
    • 0027361960 scopus 로고
    • Computerized three-dimensional reconstruction of normal and holoprosencephalic human embryos
    • Shiota K, Nakatsu T, Irie H. 1993. Computerized three-dimensional reconstruction of normal and holoprosencephalic human embryos. Birth Defects Orig Artic Ser 29:253-263.
    • (1993) Birth Defects Orig Artic Ser , vol.29 , pp. 253-263
    • Shiota, K.1    Nakatsu, T.2    Irie, H.3
  • 42
    • 76149115564 scopus 로고    scopus 로고
    • Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. 2010. Analysin of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet Part C Semin Med Genet 154C:133-141.
    • Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. 2010. Analysin of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet Part C Semin Med Genet 154C:133-141.
  • 43
    • 0019800552 scopus 로고
    • Fetal alcohol syndrome: Embryogenesis in a mouse model
    • Sulik KK, Johnston MC, Webb MA. 1981. Fetal alcohol syndrome: Embryogenesis in a mouse model. Science 214:936-938.
    • (1981) Science , vol.214 , pp. 936-938
    • Sulik, K.K.1    Johnston, M.C.2    Webb, M.A.3
  • 44
    • 0020596535 scopus 로고
    • Some teratogenic properties of ethanol and acetaldehyde in C57BL/6J mice: Implications for the study of the fetal alcohol syndrome
    • Webster WS, Walsh DA, McEwen SE, Lipson AH. 1983. Some teratogenic properties of ethanol and acetaldehyde in C57BL/6J mice: Implications for the study of the fetal alcohol syndrome. Teratology 27:231-243.
    • (1983) Teratology , vol.27 , pp. 231-243
    • Webster, W.S.1    Walsh, D.A.2    McEwen, S.E.3    Lipson, A.H.4
  • 45
    • 0001894555 scopus 로고
    • Pathoarchitectonic studies of cerebral malformations: III. Arrrhinenecephalies (Holoprosencephaly)
    • Yakovlev P. 1959. Pathoarchitectonic studies of cerebral malformations: III. Arrrhinenecephalies (Holoprosencephaly). J Neuropathol Exp Neurol 18:22-25.
    • (1959) J Neuropathol Exp Neurol , vol.18 , pp. 22-25
    • Yakovlev, P.1
  • 46
    • 4444318731 scopus 로고    scopus 로고
    • Phenotype variability in human embryonic holoprosencephaly in the Kyoto Collection
    • Yamada S, Uwabe C, Fujii S, Shiota K. 2004. Phenotype variability in human embryonic holoprosencephaly in the Kyoto Collection. Birth Defects Res (Part A) 70:495-508.
    • (2004) Birth Defects Res (Part A) , vol.70 , pp. 495-508
    • Yamada, S.1    Uwabe, C.2    Fujii, S.3    Shiota, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.