PMC Links for OMIM (Select 601545) - PMC

Select item 43967441.

Increased LIS1 expression affects human and mouse brain development

Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Jill V Hunter, Talia Levy, Vera Shinder, Daniel A Peiffer, Kevin L Gunderson, Marjan M Nezarati, Vern Ann Shotts, Stephen S Amato, Sarah K Savage, David J Harris, Debra-Lynn Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L Beaudet, Sau Wai Cheung, Salvador Martinez, James R Lupski, Orly Reiner

Nat Genet. Author manuscript; available in PMC 2015 Apr 14.

Published in final edited form as: Nat Genet. 2009 Feb; 41(2): 168–177. Published online 2009 Jan 11. doi: 10.1038/ng.302

PMCID:: PMC4396744

Abstract Article PDF–1.2M

Select item 42749522.

Somatic Mutations in Cerebral Cortical Malformations

Saumya S. Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D'Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Sahin, Bernard S. Chang, Michael Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh

N Engl J Med. Author manuscript; available in PMC 2015 Feb 21.

Published in final edited form as: N Engl J Med. 2014 Aug 21; 371(8): 733–743. doi: 10.1056/NEJMoa1314432

PMCID:: PMC4274952

Abstract Article PDF–1.0M

Select item 29864983.

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

Eden V Haverfield, Amanda J Whited, Kristin S Petras, William B Dobyns, Soma Das

Eur J Hum Genet. 2009 Jul; 17(7): 911–918. Published online 2008 Dec 3. doi: 10.1038/ejhg.2008.213

PMCID:: PMC2986498

Abstract Article PDF–135K

Select item 29432744.

The L279P Mutation of Nuclear Distribution Gene C (NudC) Influences Its Chaperone Activity and Lissencephaly Protein 1 (LIS1) Stability

Xiao-Jing Zhu, Xunyan Liu, Qi Jin, Yuqi Cai, Yuehong Yang, Tianhua Zhou

J Biol Chem. 2010 Sep 24; 285(39): 29903–29910. Published online 2010 Jul 30. doi: 10.1074/jbc.M110.105494

PMCID:: PMC2943274

Abstract Article PDF–2.7M

Select item 27594115.

Inhibition of calpain increases LIS1(PAFAH1B1) and partially rescues in vivo phenotypes in a mouse model of lissencephaly

Masami Yamada, Yuko Yoshida, Daisuke Mori, Takako Takitoh, Mineko Kengaku, Hiroki Umeshima, Keizo Takao, Tsuyoshi Miyakawa, Makoto Sato, Hiroyuki Sorimachi, Anthony Wynshaw-Boris, Shinji Hirotsune

Nat Med. Author manuscript; available in PMC 2010 Apr 1.

Published in final edited form as: Nat Med. 2009 Oct; 15(10): 1202–1207. Published online 2009 Sep 6. doi: 10.1038/nm.2023

PMCID:: PMC2759411

Abstract Article PDF–2.9M

Select item 24864436.

Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

Ashley S. Pawlisz, Christopher Mutch, Anthony Wynshaw-Boris, Anjen Chenn, Christopher A. Walsh, Yuanyi Feng

Hum Mol Genet. 2008 Aug 15; 17(16): 2441–2455. Published online 2008 May 10. doi: 10.1093/hmg/ddn144

PMCID:: PMC2486443

Abstract Article PDF–14M

Select item 16825417.

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

S A Ledbetter, A Kuwano, W B Dobyns, D H Ledbetter

Am J Hum Genet. 1992 Jan; 50(1): 182–189.

PMCID:: PMC1682541

Summary Page Browse PDF–1.5M

Select item 1658518.

Previously uncharacterized roles of platelet-activating factor acetylhydrolase 1b complex in mouse spermatogenesis

Wei Yan, Amir H. Assadi, Anthony Wynshaw-Boris, Gregor Eichele, Martin M. Matzuk, Gary D. Clark

Proc Natl Acad Sci U S A. 2003 Jun 10; 100(12): 7189–7194. Published online 2003 May 29. doi: 10.1073/pnas.1236145100

PMCID:: PMC165851

Abstract Article PDF–869K

Select item 334859.

Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization

Aviv Cahana, Teresa Escamez, Richard S. Nowakowski, Nancy L. Hayes, MaiBritt Giacobini, Alexander von Holst, Orit Shmueli, Tamar Sapir, Susan K. McConnell, Wolfgang Wurst, Salvador Martinez, Orly Reiner

Proc Natl Acad Sci U S A. 2001 May 22; 98(11): 6429–6434. Published online 2001 May 8. doi: 10.1073/pnas.101122598

PMCID:: PMC33485

Abstract Article PDF–1.7M

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