| 1 | DUP17P13, LIS1, MDS, PAFAH1B1
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| Increased LIS1 expression affects human and mouse brain development.
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| Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O.
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| Nat Genet 41(2):168-77. Epub 2009 Jan 11. 2009
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| 2 | BRSK1, BRSK2, CDC42, DCX, DOCK7, DPYSL2, GSK3A, GSK3B, IGF1, KIF13B, KIF2A, KLC1, LIS1, MAP1B, MAP2, MAPK8, MAPT, NIN, PAFAH1B1, SCG10, SCLIP, STK11, STMN1, STMN2, STMN3, STRADA
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| Microtubule assembly, organization and dynamics in axons and dendrites.
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| Conde C, Caceres A.
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| Nat Rev Neurosci. 10(5):319-32. 2009
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| 3 | DCX, LIS1, PAFAH1B1
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| Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
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| Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S.
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| Eur J Hum Genet 17(7):911-8. Epub 2008 Dec 3.
2009
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| 4 | DUP17P13, LIS1, PAFAH1B1
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| High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
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| Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.
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| J Med Genet 45(6):355-361. Epub 2008 Feb 19. 2008
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| 5 | LIS1, PAFAH1B1
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| Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
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| Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Ades L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.
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| Neurology 69(5):442-7. 2007
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| 6 | KATNA1, KATNB1, LIS1, NDEL1
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| Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration.
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| Toyo-Oka K, Sasaki S, Yano Y, Mori D, Kobayashi T, Toyoshima YY, Tokuoka SM, Ishii S, Shimizu T, Muramatsu M, Hiraiwa N, Yoshiki A, Wynshaw-Boris A, Hirotsune S.
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| Hum Mol Genet 14(21):3113-28. Epub 2005 Oct 3. 2005
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| 7 | LIS1, PAFAH1B1
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| HIV-1 Tat interacts with LIS1 protein.
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| Epie N, Ammosova T, Sapir T, Voloshin Y, Lane WS, Turner W, Reiner O, Nekhai S.
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| Retrovirology. 2:6. 2005
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| 8 | LIS1, PAFAH1B1
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| Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning.
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| Shu, T.; Ayala, R.; Nguyen, M.-D.; Xie, Z.; Gleeson, J. G.; Tsai, L.-H.
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| Neuron. 44: 263-277 2004
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| 9 | LIS1, PAFAH1B1
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| Coupling PAF signaling to dynein regulation: structure of LIS1 in complex with PAF-acetylhydrolase.
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| Tarricone, C.; Perrina, F.; Monzani, S.; Massimiliano, L.; Kim, M.-H.; Derewenda, Z. S.; Knapp, S.; Tsai, L.-H.; Musacchio, A.
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| Neuron. 44: 809-821 2004
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| 10 | LIS1, PAFAH1B1
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| Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.
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| Williams, S. N.; Locke, C. J.; Braden, A. L.; Caldwell, K. A.; Caldwell, G. A.
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| Hum. Molec. Genet. 13: 2043-2059 2004
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| 11 | CRK, LIS1, YWHAE, MDS, PAFAH1B1
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| Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
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| Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH.
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| Am J Hum Genet 72(4):918-30. Epub 2003 Mar 05. 2003
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| 12 | CDK5, LIS1, NDEL1, YWHAE
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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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| Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A.
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| Nat Genet 34(3):274-85. 2003
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| 13 | LIS1, PAFAH1B1
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| LIS1 association with dynactin is required for nuclear motility and genomic union in the fertilized mammalian oocyte.
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| Payne C, St John JC, Ramalho-Santos J, Schatten G.
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| Cell Motil Cytoskeleton. 56(4):245-51. 2003
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| 14 | LIS1, PAFAH1B1
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| LIS1, CLIP-170's key to the dynein/dynactin pathway.
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| Coquelle FM, Caspi M, Cordelières FP, Dompierre JP, Dujardin DL, Koifman C, Martin P, Hoogenraad CC, Akhmanova A, Galjart N, De Mey JR, Reiner O.
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| Mol Cell Biol. 22(9):3089-102. 2002
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| 15 | LIS1, PAFAH1B1
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| Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function.
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| Tai CY, Dujardin DL, Faulkner NE, Vallee RB.
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| J Cell Biol. 156(6):959-68. 2002
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| 16 | LIS1, PAFAH1B1
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| Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization.
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| Cahana, A.; Escamez, T.; Nowakowski, R. S.; Hayes, N. L.; Giacobini, M.; von Holst, A.; Shmueli, O.; Sapir, T.; McConnell, S. K.; Wurst, W.; Martinez, S.; Reiner, O.
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| Proc. Nat. Acad. Sci. 98: 6429-6434 2001
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| 17 | DCX, LIS1, PAFAH1B1
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| Interaction between LIS1 and doublecortin, two lissencephaly gene products.
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| Caspi M, Atlas R, Kantor A, Sapir T, Reiner O.
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| Hum Mol Genet 9(15):2205-13. 2000
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| 18 | LIS1, NDE1, PAFAH1B1
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| Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE.
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| Kitagawa M, Umezu M, Aoki J, Koizumi H, Arai H, Inoue K.
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| FEBS Lett 479(1-2):57-62. 2000
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| 19 | LIS1, PAFAH1B1, MDS
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| The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
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| Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.
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| Hum Mol Genet 9(20):3019-28. 2000
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| 20 | LIS1, PAFAH1B1
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| LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
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| Feng Y, Olson EC, Stukenberg PT, Flanagan LA, Kirschner MW, Walsh CA.
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| Neuron. 28(3):665-79 2000
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| 21 | LIS1, PAFAH1B1
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| A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function.
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| Faulkner, N. E.; Dujardin, D. L.; Tai, C.-Y.; Vaughan, K. T.; O'Connell, C. B.; Wang, Y.; Vallee, R. B.
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| Nat Cell Biol. 2: 784-791 2000
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| 22 | LIS1, PAFAH1B1
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| Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport.
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| Liu Z, Steward R, Luo L.
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| Nat Cell Biol. 2(11):776-83 2000
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| 23 | LIS1
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| Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
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| Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R.
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| Ann Neurol 45(2):154-61 1999
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| 24 | LIS1, PAFAH1B1, PLA2G7
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| LIS1 is a microtubule-associated phosphoprotein.
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| Sapir T, Cahana A, Seger R, Nekhai S, Reiner O.
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| Eur J Biochem 265(1):181-8 1999
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| 25 | LIS1
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| Analysis of lissencephaly-causing LIS1 mutations.
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| Sapir T, Eisenstein M, Burgess HA, Horesh D, Cahana A, Aoki J, Hattori M, Arai H, Inoue K, Reiner O.
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| Eur J Biochem 266(3):1011-20. 1999
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| 26 | LIS1, PAFAH1B1, PAFAH1P1, PAFAH1P2, UBQLN4
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| Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
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| Fogli A, Giglio S, Arrigo G, Lo Nigro C, Zollo M, Viggiano L, Rocchi M,Archidiacono N, Zuffardi O, Carrozzo R.
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| Cytogenet Cell Genet 86(3-4):225-32. 1999
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| 27 | LIS1, PAFAH1B1, PLA2G7
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| Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
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| Hirotsune, S.; Fleck, M. W.; Gambello, M. J.; Bix, G. J.; Chen, A.; Clark, G. D.; Ledbetter, D. H.; McBain, C. J.; Wynshaw-Boris, A
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| Nat Genet 19 : 333-339. 1998
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| 28 | LIS1
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| Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17).
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| Kurahashi H, et al.
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| Hum Genet 103 : 189-192. 1998
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| 29 | LIS1, MDS, PLA2G7
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| Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence of Miller-Dieker syndrome.
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| Sakamoto M, et al.
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| Hum Genet 103 : 586-589. 1998
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| 30 | LIS1, PAFAH1B1
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| The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC.
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| Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY.
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| Curr. Biol. 8(10):603-6. 1998
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| 31 | LIS1, MDS, PLA2G7
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| Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
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| Lo Nigro C, et al.
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| Hum Mol Genet 6 : 157-164. 1997
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| 32 | LIS1, MDS, PLA2G7, YWHAE
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| A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
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| Chong SS, et al.
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| Hum Mol Genet 6 : 147-155. 1997
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| 33 | LIS1, MDS
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| Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
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| Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A.
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| Genome Res 7(6):625-34. 1997
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| 34 | LIS1
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| Predominant localization of the LIS family of gene products to Cajal-Retzius cells and ventricular neuroepithelium in the developing human cortex.
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| Clark GD, Mizuguchi M, Antalffy B, Barnes J, Armstrong D.
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| J Neuropathol Exp Neurol 56(9):1044-52. 1997
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| 35 | LIS1, PAFAH1B1
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| Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.
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| Sapir T, Elbaum M, Reiner O.
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| EMBO J. 16(23):6977-84 1997
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| 36 | LIS1, TSG17E
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| Molecular analysis of the lissencephaly gene 1 (LIS-1) in medulloblastomas.
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| Koch A, et al.
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| Neuropathol Appl Neurobiol 22 : 233-242. 1996
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| 37 | LIS1, MDS, YWHAE
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| 14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region.
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| Chong SS, et al.
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| Genome Res 6 : 735-741. 1996
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| 38 | LIS1, YWHAE
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| Function of 14-3-3 proteins.
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| Jin DY, et al.
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| Nature 382 : 308. 1996
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| 39 | LIS1, TSG17D
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| Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1).
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| Koch A, et al.
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| Clin Genet 50 : 527-528. 1996
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| 40 | MDS, LIS1
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| Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.
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| Pilz DT, et al.
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| J Med Genet 32 : 275-278. 1995
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| 41 | LIS1
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| Submicroscopic deletions of 17p13.3 in type 1 lissencephaly.
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| Mantel A, et al.
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| Hum Genet 94 : 95-96. 1994
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| 42 | LIS1, MDS, PLA2G7
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| Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase.
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| Hattori M, et al.
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| Nature 370 : 216-218. 1994
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| 43 | LIS1, YWHAE
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| Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
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| Reiner O, et al.
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| Nature 364 : 717-721. 1993
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| 44 | LIS1
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| Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
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| Ledbetter SA, et al.
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| Am J Hum Genet 50 : 182-189. 1992
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| 45 | LIS1, MDS
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| Cloning and characterization of a full-length cDNA mapping to the critical region for lissencephaly.
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| Carrozzo R, et al.
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| Am J Hum Genet 51 : A210. 1992
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| 46 | LIS1, MDS
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| DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
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| Oostra BA, et al.
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| Am J Med Genet 40 : 383-386. 1991
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| 47 | LIS1
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| Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
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| De Rijk-van Andel JF, et al.
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| Hum Genet 87 : 509-510. 1991
|