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0035066971
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Molecular genetics of human microcephaly
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Mochida G.H., Walsh C.A. Molecular genetics of human microcephaly. Curr. Opin. Neurol. 14:2001;151-156.
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Curr. Opin. Neurol.
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Mochida, G.H.1
Walsh, C.A.2
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0036803271
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Methodological issues in epidemiologic studies of congenital microcephaly
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Leviton A., Holmes L.B., Allred E.N., Vargas J. Methodological issues in epidemiologic studies of congenital microcephaly. Early Hum. Dev. 69:2002;91-105.
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Early Hum. Dev.
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Leviton, A.1
Holmes, L.B.2
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Vargas, J.4
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0038338617
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Microcephaly: An epidemiologic analysis
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Krauss M.J., Morrissey A.E., Winn H.N., Amon E., Leet T.L. Microcephaly: an epidemiologic analysis. Am. J. Obstet. Gynecol. 188:2003;1484-1490.
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Am. J. Obstet. Gynecol.
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Krauss, M.J.1
Morrissey, A.E.2
Winn, H.N.3
Amon, E.4
Leet, T.L.5
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4
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0038813599
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Cerebral atrophy following shaken impact syndrome and other non-accidental head injury (NAHI)
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Lo T.Y.M., McPhillips M., Minns R.A., Gibson R.J. Cerebral atrophy following shaken impact syndrome and other non-accidental head injury (NAHI). Pediatric Rehabilitation. 6:2003;47-55.
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Pediatric Rehabilitation
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Lo, T.Y.M.1
McPhillips, M.2
Minns, R.A.3
Gibson, R.J.4
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5
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0037144178
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Deficiency of neural nitric oxide synthase (nNOS) worsens alcohol-induced microencephaly and neural loss in developing mice
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The authors present an elegant and thorough study of the effects of alcohol on normal and nitric oxide synthase (NOS) deficient mice. Hopefully further studies will reveal other neuroprotective pathways, maybe explaining why some premature or birth asphyxiated babies have no or minimal intellectual and neurological deficits.
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Bonthius D.J., Tzouras G., Karacay B., Mahoney J., Hutton A., McKim R., Pantazis N.J. Deficiency of neural nitric oxide synthase (nNOS) worsens alcohol-induced microencephaly and neural loss in developing mice. Dev. Brain Res. 138:2002;45-59 The authors present an elegant and thorough study of the effects of alcohol on normal and nitric oxide synthase (NOS) deficient mice. Hopefully further studies will reveal other neuroprotective pathways, maybe explaining why some premature or birth asphyxiated babies have no or minimal intellectual and neurological deficits.
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Dev. Brain Res.
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Bonthius, D.J.1
Tzouras, G.2
Karacay, B.3
Mahoney, J.4
Hutton, A.5
McKim, R.6
Pantazis, N.J.7
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6
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0037135177
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Regulation of cerebral cortical size by control of cell cycle exit in neural precursors
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The authors present an important paper that starts the dissection of the exquisite control of the neural precursor cell cycle that must occur during mammalian neurogenesis. Transgenic conditional over-expression of beta-catenin in murine neuroepithelium was achieved. The resultant mice were examined at birth and found to have enlarged, but structurally normal brains. Furthermore, the normally smooth mouse brain became folded, resembling the gyral pattern of mammals with larger cerebral cortices.
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Chenn A., Walsh C.A. Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science. 297:2002;365-369 The authors present an important paper that starts the dissection of the exquisite control of the neural precursor cell cycle that must occur during mammalian neurogenesis. Transgenic conditional over-expression of beta-catenin in murine neuroepithelium was achieved. The resultant mice were examined at birth and found to have enlarged, but structurally normal brains. Furthermore, the normally smooth mouse brain became folded, resembling the gyral pattern of mammals with larger cerebral cortices.
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Science
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, pp. 365-369
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Chenn, A.1
Walsh, C.A.2
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7
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0038517899
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Beta-Catenin signals regulate cell growth and the balance between progenitor cell expansion and differentiation in the nervous system
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Zechner D., Fujita Y., Hulsken J., Muller T., Walther I., Taketo M.M., Crenshaw E.B. 3rd, Birchmeier W., Birchmeier C. beta-Catenin signals regulate cell growth and the balance between progenitor cell expansion and differentiation in the nervous system. Dev. Biol. 258:2003;406-418.
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Dev. Biol.
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Zechner, D.1
Fujita, Y.2
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Walther, I.5
Taketo, M.M.6
Crenshaw III, E.B.7
Birchmeier, W.8
Birchmeier, C.9
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8
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0037779439
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Regulated expression of ATF5 is required for the progression of neural progenitor cells to neurons
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Angelastro J.M., Ignatova T.N., Kukekov V.G. Regulated expression of ATF5 is required for the progression of neural progenitor cells to neurons. J. Neurosci. 23:2003;4590-4600.
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J. Neurosci.
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Angelastro, J.M.1
Ignatova, T.N.2
Kukekov, V.G.3
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9
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0036063617
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Mnb/Dyrk1A is transiently expressed and asymmetrically segregated in neural progenitor cells at the transition to neurogenic divisions
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The authors used studies of mouse and chicken embryos to intriguingly suggest that Mnb expression may be restricted to a single cell cycle of the neural precursors, in particular, when a cell changes from proliferation (producing more precursors) to differentiation (and the commitment to produce neurones). Furthermore, Mnb is asymmetrically partitioned into only one daughter cell at the time of division.
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Hammerle B., Vera-Samper E., Speicher S., Arencibia R., Martinez S., Tejedor F.J. Mnb/Dyrk1A is transiently expressed and asymmetrically segregated in neural progenitor cells at the transition to neurogenic divisions. Dev. Biol. 246:2002;259-273 The authors used studies of mouse and chicken embryos to intriguingly suggest that Mnb expression may be restricted to a single cell cycle of the neural precursors, in particular, when a cell changes from proliferation (producing more precursors) to differentiation (and the commitment to produce neurones). Furthermore, Mnb is asymmetrically partitioned into only one daughter cell at the time of division.
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Dev. Biol.
, vol.246
, pp. 259-273
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Hammerle, B.1
Vera-Samper, E.2
Speicher, S.3
Arencibia, R.4
Martinez, S.5
Tejedor, F.J.6
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10
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0036724569
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Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
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Fotaki V., Dierssen M., Alcantara S., Martinez S., Marti E., Casas C., Visa J., Soriano E., Estivill X., Arbones M.L. Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Moll Cell Biol. 22:2002;6636-6647.
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Fotaki, V.1
Dierssen, M.2
Alcantara, S.3
Martinez, S.4
Marti, E.5
Casas, C.6
Visa, J.7
Soriano, E.8
Estivill, X.9
Arbones, M.L.10
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11
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18644367387
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Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
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The authors present an analysis of 57 northern Pakistani families. For each family linkage to the MCPH loci was sought, followed by analysis of locus, intra- and inter-familial phenotype; the loci had indistinguishable phenotypes.
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Roberts E., Hampshire D.J., Pattison L., Springell K., Jafri H., Corry P., Mannon J., Rashid Y., Crow Y., Bond J., Woods C.G. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J. Med. Genet. 39:2002;718-721 The authors present an analysis of 57 northern Pakistani families. For each family linkage to the MCPH loci was sought, followed by analysis of locus, intra- and inter-familial phenotype; the loci had indistinguishable phenotypes.
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J. Med. Genet
, vol.39
, pp. 718-721
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Roberts, E.1
Hampshire, D.J.2
Pattison, L.3
Springell, K.4
Jafri, H.5
Corry, P.6
Mannon, J.7
Rashid, Y.8
Crow, Y.9
Bond, J.10
Woods, C.G.11
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12
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0036787796
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ASPM is a major determinant of cerebral cortical size
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Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham, Walsh CA, Woods CG: ASPM is a major determinant of cerebral cortical size. Nat Genet 2002, 32:316-320.
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Nat Genet
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, pp. 316-320
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Bond, J.1
Roberts, E.2
Mochida, G.H.3
Hampshire, D.J.4
Scott, S.5
Askham, J.M.6
Springell, K.7
Mahadevan, M.8
Crow, Y.J.9
Markham10
Walsh, C.A.11
Woods, C.G.12
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13
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0036302105
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Identification of microcephalin, a protein implicated in determining the size of the human brain
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The authors report the positional cloning of the gene of the first MCPH locus identified.
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Jackson A.P., Eastwood H., Bell S.M., Adu J., Toomes C., Carr I.M., Roberts E., Hampshire D.J., Crow Y.J., Mighell A.J., Markham A.F., Woods C.G. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am. J. Hum. Genet. 71:2002;136-142 The authors report the positional cloning of the gene of the first MCPH locus identified.
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Jackson, A.P.1
Eastwood, H.2
Bell, S.M.3
Adu, J.4
Toomes, C.5
Carr, I.M.6
Roberts, E.7
Hampshire, D.J.8
Crow, Y.J.9
Mighell, A.J.10
Markham, A.F.11
Woods, C.G.12
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14
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0242607170
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Protein truncating mutations in ASPM cause variable reduction in brain size
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Bond J., Scott S., Hampshire D.J., Springell K., Abramowicz M.J., Mochida G., Fryns J.-P., Hennekam R.C.M., Corry P., Maher E.R., Fryns J.P., et al. Protein truncating mutations in ASPM cause variable reduction in brain size. Am. J. Hum. Genet. 73:2003;1170-1177.
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Bond, J.1
Scott, S.2
Hampshire, D.J.3
Springell, K.4
Abramowicz, M.J.5
Mochida, G.6
Fryns, J.-P.7
Hennekam, R.C.M.8
Corry, P.9
Maher, E.R.10
Fryns, J.P.11
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15
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0035072802
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Polo kinase and Asp are needed to promote the mitotic organizing activity of centrosomes
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do Carmo Avides M., Tavares A., Glover D.M. Polo kinase and Asp are needed to promote the mitotic organizing activity of centrosomes. Nat. Cell Biol. 3:2001;421-424.
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Do Carmo Avides, M.1
Tavares, A.2
Glover, D.M.3
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16
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0035858880
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The Drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis
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Wakefield J.G., Bonaccorsi S., Gatti M. The Drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis. J. Cell Biol. 153:2001;637-648.
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Wakefield, J.G.1
Bonaccorsi, S.2
Gatti, M.3
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17
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0025115595
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Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts
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Gonzalez C., Saunders R.D., Casal J., Molina I., Carmena M., Ripoll P., Glover D.M. Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts. J. Cell Sci. 96:1990;605-616.
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Gonzalez, C.1
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Molina, I.4
Carmena, M.5
Ripoll, P.6
Glover, D.M.7
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18
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0028938482
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Mutations in aurora prevent centrosome separation leading to the formation of monopolar spindles
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Glover D.M., Leibowitz M.H., McLean D.A., Parry H. Mutations in aurora prevent centrosome separation leading to the formation of monopolar spindles. Cell. 81:1995;95-105.
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Glover, D.M.1
Leibowitz, M.H.2
McLean, D.A.3
Parry, H.4
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19
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0023752512
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Functional monopolar spindles caused by mutation in mgr, a cell division gene of Drosophila melanogaster
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Gonzalez C., Casal J., Ripoll P. Functional monopolar spindles caused by mutation in mgr, a cell division gene of Drosophila melanogaster. J. Cell Sci. 89:1988;39-47.
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Gonzalez, C.1
Casal, J.2
Ripoll, P.3
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20
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0035858876
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Metaphase arrest with centromere separation in polo mutants of Drosophila
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Donaldson M.M., Tavares A.A., Ohkura H., Deak P., Glover D.M. Metaphase arrest with centromere separation in polo mutants of Drosophila. J. Cell Biol. 153:2001;663-676.
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Donaldson, M.M.1
Tavares, A.A.2
Ohkura, H.3
Deak, P.4
Glover, D.M.5
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21
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0028784065
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The Drosophila homeotic target gene centrosomin (cnn) encodes a novel centrosomal protein with leucine zippers and maps to a genomic region required for midgut morphogenesis
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Heuer J.G., Li K., Kaufman T.C. The Drosophila homeotic target gene centrosomin (cnn) encodes a novel centrosomal protein with leucine zippers and maps to a genomic region required for midgut morphogenesis. Development. 121:1995;3861-3876.
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Development
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Heuer, J.G.1
Li, K.2
Kaufman, T.C.3
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22
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0038142215
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Polar expeditions - Provisioning the centrosome for mitosis
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The authors present an excellent review of the dynamic status of the centrosome during mitosis.
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Blagden S.P., Glover D.M. Polar expeditions - provisioning the centrosome for mitosis. Nat. Cell Biol. 5:2003;505-511 The authors present an excellent review of the dynamic status of the centrosome during mitosis.
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Nat. Cell Biol.
, vol.5
, pp. 505-511
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Blagden, S.P.1
Glover, D.M.2
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23
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0034214187
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NuMA: A nuclear protein involved in mitotic centrosome function
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Zeng C. NuMA: a nuclear protein involved in mitotic centrosome function. Microsc. Res. Tech. 49:2000;467-477.
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Microsc. Res. Tech.
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Zeng, C.1
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24
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0033659637
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Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
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Jamieson C.R., Govaerts C., Abramovicz M.J. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am. J. Hum. Genet. 67:2000;1575-1577.
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Am. J. Hum. Genet.
, vol.67
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Jamieson, C.R.1
Govaerts, C.2
Abramovicz, M.J.3
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25
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0038163514
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A Brazilian locus for autosomal recessive primary microcephaly maps to 13q12.2
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Leal G.F., Roberts E., Silva E.O., Costa S.M., Hampshire D.J., Woods C.G. A Brazilian locus for autosomal recessive primary microcephaly maps to 13q12.2. J. Med. Genet. 40:2003;540-542.
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J. Med. Genet.
, vol.40
, pp. 540-542
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Leal, G.F.1
Roberts, E.2
Silva, E.O.3
Costa, S.M.4
Hampshire, D.J.5
Woods, C.G.6
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26
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0034757721
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Chromosome instability syndromes
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Taylor A.M. Chromosome instability syndromes. Best Pract. Clin. Haematol. 14:2001;631-644.
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Best Pract. Clin. Haematol.
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Taylor, A.M.1
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27
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18644367647
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Clinical and genetic heterogeneity of Seckel syndrome
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Faive L., Le Merrer M., Lyonnet S., Plauchu H., Dagoneau N., Campos-Xavier A.B., Attia-Sobol J., Verloes A., Munnich A., Cormier-Daire V. Clinical and genetic heterogeneity of Seckel syndrome. Am. J. Med. Genet. 112:2002;379-383.
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Am. J. Med. Genet
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Faive, L.1
Le Merrer, M.2
Lyonnet, S.3
Plauchu, H.4
Dagoneau, N.5
Campos-Xavier, A.B.6
Attia-Sobol, J.7
Verloes, A.8
Munnich, A.9
Cormier-Daire, V.10
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28
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0345073699
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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
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The authors describe the discovery of a silent mutation, proof that it affected splicing of the ATR gene and cellular work exhibiting increased sensitivity to UV irradiation in cells derived from an affected individual.
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O'Discoll M., Ruiz-Perez V.L., Woods C.G., Jego P.A., Goodship J.A. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat. Genet. 33:2003;497-501 The authors describe the discovery of a silent mutation, proof that it affected splicing of the ATR gene and cellular work exhibiting increased sensitivity to UV irradiation in cells derived from an affected individual.
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Nat. Genet.
, vol.33
, pp. 497-501
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O'Discoll, M.1
Ruiz-Perez, V.L.2
Woods, C.G.3
Jego, P.A.4
Goodship, J.A.5
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29
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18544382852
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Mutant deoxynucleotide carrier is associated with congenital microcephaly
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The authors describe a single family with a potentially unique disorder underlining the importance of energy metabolism in the developing brain.
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Rosenberg M.J., Agarwala R., Bouffard G., Davis J., Fiermonte G., Hilliard M.S., Koch T., Kalikin L.M., Makalowska I., Morton D.H., et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat. Genet. 32:2003;175-179 The authors describe a single family with a potentially unique disorder underlining the importance of energy metabolism in the developing brain.
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Nat. Genet.
, vol.32
, pp. 175-179
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Rosenberg, M.J.1
Agarwala, R.2
Bouffard, G.3
Davis, J.4
Fiermonte, G.5
Hilliard, M.S.6
Koch, T.7
Kalikin, L.M.8
Makalowska, I.9
Morton, D.H.10
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30
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0036917867
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Rett syndrome and MeCP2: Linking epigenetics and neuronal function
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An excellent clinical and scientific review by the team that discovered that the MeCP2 gene causes Rett syndrome.
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Shahbazian M.D., Zoghbi H.Y. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am. J. Hum. Genet. 71:2002;1259-1272 An excellent clinical and scientific review by the team that discovered that the MeCP2 gene causes Rett syndrome.
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(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1259-1272
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Shahbazian, M.D.1
Zoghbi, H.Y.2
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31
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0037381336
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The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells
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Jung B.P., Jugloff D.G.M., Zhang G., Logan R., Brown S., Eubanks J.H. The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J. Neurobiol. 55:2003;86-96.
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J. Neurobiol.
, vol.55
, pp. 86-96
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Jung, B.P.1
Jugloff, D.G.M.2
Zhang, G.3
Logan, R.4
Brown, S.5
Eubanks, J.H.6
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32
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0038137184
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A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
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The authors illustrate the power of a single family with three affected children for defining and mapping a novel disorder.
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Rajab J.A., Mochida G.H., Hill A., Ganesh V., Bodell A., Riaz A., Grant P.E., Shugart Y.Y., Walsh C.A. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 60:2003;1664-1667 The authors illustrate the power of a single family with three affected children for defining and mapping a novel disorder.
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(2003)
Neurology
, vol.60
, pp. 1664-1667
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Rajab, J.A.1
Mochida, G.H.2
Hill, A.3
Ganesh, V.4
Bodell, A.5
Riaz, A.6
Grant, P.E.7
Shugart, Y.Y.8
Walsh, C.A.9
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33
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10744220219
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Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
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Wilson M., Mowat D., Dastot-Le Moal F., Cacheux V., Kaariainen H., Cass D., Donnai D., Clayton-Smith J., Townshend S., Curry C., et al. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am. J. Med. Genet. 119:2003;257-265.
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(2003)
Am. J. Med. Genet
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Wilson, M.1
Mowat, D.2
Dastot-Le Moal, F.3
Cacheux, V.4
Kaariainen, H.5
Cass, D.6
Donnai, D.7
Clayton-Smith, J.8
Townshend, S.9
Curry, C.10
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34
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0036591672
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Smooth, rough and upside-down neocortical development
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The authors present an excellent review of recent discoveries arising from the study of mammalian disorders of central nervous system neuronal migration.
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Olson E.C., Walsh C.A. Smooth, rough and upside-down neocortical development. Curr. Opin. Gen. Dev. 12:2002;320-327 The authors present an excellent review of recent discoveries arising from the study of mammalian disorders of central nervous system neuronal migration.
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(2002)
Curr. Opin. Gen. Dev.
, vol.12
, pp. 320-327
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Olson, E.C.1
Walsh, C.A.2
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35
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0035956478
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Classification system for malformations of cortical development: Update 2001
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Barkovich A.J., Kuzniecky R.I., Jackson G.D., Guerrini R., Dobyns W.B. Classification system for malformations of cortical development: update 2001. Neurology. 57:2001;2168-2178.
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Neurology
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Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
Guerrini, R.4
Dobyns, W.B.5
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36
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0037390829
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Lissencephaly and the molecular basis of neuronal migration
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The authors present a very useful paper for the clinician detailing clinical features, showing illustrative brain scans and suggesting algorithms for molecular confirmation of diagnosis.
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Kato M., Dobyns W.B. Lissencephaly and the molecular basis of neuronal migration. Hum. Mol. Genet. 12:2003;R89-R96 The authors present a very useful paper for the clinician detailing clinical features, showing illustrative brain scans and suggesting algorithms for molecular confirmation of diagnosis.
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(2003)
Hum. Mol. Genet.
, vol.12
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Kato, M.1
Dobyns, W.B.2
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37
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0038757833
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14-3-3epsilon is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome
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The authors report discovery of a second gene in the Miller-Dieker critical region involved in neuronal migration. 14-3-3epsilon was shown to maintain CDK/p35 phosphorylation of NUDEL. Mice deficient in 14-3-3epsilon alone and heterozygous for 14-3-3epsilon and LIS1 were generated allowing comparison of the phenotypes.
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Toyo-oka K., Shionoya A., Gambello M.J., Cardoso C., Leventer R., Ward H.L., Ayala R., Tsai L.H., Dobyns W., Ledbetter D., et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat. Genet. 34:2003;274-285 The authors report discovery of a second gene in the Miller-Dieker critical region involved in neuronal migration. 14-3-3epsilon was shown to maintain CDK/p35 phosphorylation of NUDEL. Mice deficient in 14-3-3epsilon alone and heterozygous for 14-3-3epsilon and LIS1 were generated allowing comparison of the phenotypes.
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
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The study includes elegant mouse studies showing that the ARX gene is necessary for the normal neurogenesis, but particularly for the production of GABAergic interneurones that exhibit tangential migration from the ganglionic eminences into the cerebral cortex. Mutations in ARX in families affected with XLAG are detailed.
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Kitamura K., Yanazawa M., Sugiyama N., Miura H., Iizuka-Kogo A., Kusaka M., Omichi K., Suzuki R., Kato-Fukui Y., Kamiirisa K., et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat. Genet. 32:2002;359-369 The study includes elegant mouse studies showing that the ARX gene is necessary for the normal neurogenesis, but particularly for the production of GABAergic interneurones that exhibit tangential migration from the ganglionic eminences into the cerebral cortex. Mutations in ARX in families affected with XLAG are detailed.
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The authors detail some of the differences among mammalian cerebral cortex architecture. A corollary is that findings in one mammal cannot be assumed to be correct in another.
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DeFelipe J., Alsonso-Nanclares L., Arellano J. Microstructure of the neocortex: comparative aspects. J. Neurocytol. 31:2002;299-316 The authors detail some of the differences among mammalian cerebral cortex architecture. A corollary is that findings in one mammal cannot be assumed to be correct in another.
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Mutations in the human orthologue of Aristaless cause X-linked mental retardation and epilepsy
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Stromme P., Mangelsdorf M.E., Shaw M.A., Lower K.M., Lewis S.M., Bruyere H., Lutcherath V., Gedeon A.K., Wallace R.H., Scheffer I.E., et al. Mutations in the human orthologue of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30:2002;441-445.
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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
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Bienvenu T., Poirier K., Friocourt G., Bahi N., Beaumont D., Fauchereau F., Ben Jeema L., Zemni R., Vinet M.C., Francis F., et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum. Mol. Genet. 11:2002;981-991.
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A small step for the cell, a giant leap for mankind: A hypothesis of neocortical expansion during evolution
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Rakic P. A small step for the cell, a giant leap for mankind: a hypothesis of neocortical expansion during evolution. Trends Neurosci. 18:1995;383-388.
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Marino L., Sudheimer K.D., Pabst D.A., McLellan W.A., Filsoof D., Johnson J.I. Neuroanatomy of the common dolphin (Delphinus delphis) as revealed by magnetic resonance imaging (MRI). Anat. Record. 268:2002;411-429.
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A clinician's plea
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This editorial stresses the importance of full clinical data in reports of disease causing genes and mutation analysis. Failure to do this will potentially result in an inability of patients, through their clinicians, to benefit from scientific discovery.
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Hall J.G. A clinician's plea. Nat. Genet. 33:2003;440-442 This editorial stresses the importance of full clinical data in reports of disease causing genes and mutation analysis. Failure to do this will potentially result in an inability of patients, through their clinicians, to benefit from scientific discovery.
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The novel murine calmodulin-binding protein Sha1 disrupts mitotic spindle and replication checkpoint functions in fission yeast
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