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Select item 83783071.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, Jennifer Guo, Patricia M Zerfas, Joshi Stephen, Andrew R Cullinane, Joy Bryant, Roxanne Fischer, Brian P Brooks, Wadih M Zein, Edythe A Wiggs, Christopher K Zalewski, Andrea Poretti, Melanie M Bryan, Meghana Vemulapalli, James C Mullikin, Martha Kirby, Stacie M Anderson, NISC Comparative Sequencing Program, Marjan Huizing, Camilo Toro, William A Gahl, Meral Gunay-Aygun

J Med Genet. Author manuscript; available in PMC 2021 Aug 20.

Published in final edited form as: J Med Genet. 2016 May; 53(5): 318–329. Published online 2016 Jan 13. doi: 10.1136/jmedgenet-2015-103416

PMCID:: PMC8378307

Abstract Article PDF–1.9M

Select item 79111572.

Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation

Magdalena Kurek, Elisabet Åkesson, Masahito Yoshihara, Elizabeth Oliver, Yanhua Cui, Martin Becker, João Pedro Alves-Lopes, Ragnar Bjarnason, Patrik Romerius, Mikael Sundin, Ulrika Norén Nyström, Cecilia Langenskiöld, Hartmut Vogt, Lars Henningsohn, Cecilia Petersen, Olle Söder, Jingtao Guo, Rod T. Mitchell, Kirsi Jahnukainen, Jan-Bernd Stukenborg

Cells. 2021 Feb; 10(2): 241. Published online 2021 Jan 27. doi: 10.3390/cells10020241

PMCID:: PMC7911157

Abstract Article PDF–5.2M

Select item 67416263.

Processing of Laminin α Chains Generates Peptides Involved in Wound Healing and Host Defense

Ilknur Senyürek, Wolfgang E. Kempf, Gerd Klein, Andreas Maurer, Hubert Kalbacher, Luisa Schäfer, Ines Wanke, Christina Christ, Stefan Stevanovic, Martin Schaller, Patricia Rousselle, Claus Garbe, Tilo Biedermann, Birgit Schittek

J Innate Immun. 2014 Jun; 6(4): 467–484. Published online 2014 Jan 18. doi: 10.1159/000357032

PMCID:: PMC6741626

Abstract Article PDF–479K

Select item 65151574.

The Laminin-α1 Chain-Derived Peptide, AG73, Binds to Syndecans on MDA-231 Breast Cancer Cells and Alters Filopodium Formation

Madhavi Puchalapalli, Liang Mu, Chevaunne Edwards, Benjamin Kaplan-Singer, Pearl Eni, Kiran Belani, David Finkelstein, Arpan Patel, Megan Sayyad, Jennifer E. Koblinski

Anal Cell Pathol (Amst) 2019; 2019: 9192516. Published online 2019 Apr 30. doi: 10.1155/2019/9192516

PMCID:: PMC6515157

Abstract Article PDF–1.5M

Select item 49138775.

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, Dietz Rating, Romina Romaniello, Filippo Maria Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente

Eur J Hum Genet. 2016 Aug; 24(9): 1262–1267. Published online 2016 Mar 2. doi: 10.1038/ejhg.2016.19

PMCID:: PMC4913877

Abstract Article PDF–797K

Select item 41294026.

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, Francois P. Bernier, Kym M. Boycott, Jacek Majewski, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty

Am J Hum Genet. 2014 Aug 7; 95(2): 227–234. doi: 10.1016/j.ajhg.2014.07.007

Correction in:: Am J Hum Genet. 2014 Oct 2; 95(4): 472.

PMCID:: PMC4129402

Abstract Article PDF–1.7M

Select item 33112407.

Laminin-α₁ LG4–5 domain binding to dystroglycan mediates muscle cell survival, growth, and the AP-1 and NF-κB transcription factors but also has adverse effects

Yan Wen Zhou, Jesus Munoz, Daifeng Jiang, Harry W. Jarrett

Am J Physiol Cell Physiol. 2012 Mar 15; 302(6): C902–C914. Published online 2011 Dec 7. doi: 10.1152/ajpcell.00118.2011

PMCID:: PMC3311240

Abstract Article

Select item 30842448.

The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia

Yan Yan Zhao, Feng Ju Zhang, Si Quan Zhu, Hui Duan, Yang Li, Zhong Jun Zhou, Wen Xian Ma, Ning Li Wang

Mol Vis. 2011; 17: 1003–1010. Published online 2011 Apr 22.

PMCID:: PMC3084244

Abstract Article PDF–1.4M

Select item 21397949.

Laminin α1 Chain Synthesis in the Mouse Developing Lung: Requirement for Epithelial–Mesenchymal Contact and Possible Role in Bronchial Smooth muscle Development

Lucia Schuger, Amy P.N. Skubitz, Jun Zhang, Lydia Sorokin, Li He

J Cell Biol. 1997 Oct 20; 139(2): 553–562. doi: 10.1083/jcb.139.2.553

PMCID:: PMC2139794

Abstract Article PDF–553K

Select item 186592110.

Vaccinia Virus 4c (A26L) Protein on Intracellular Mature Virus Binds to the Extracellular Cellular Matrix Laminin

Wen-Ling Chiu, Chi-Long Lin, Min-Hsiang Yang, Der-Lii M. Tzou, Wen Chang

J Virol. 2007 Mar; 81(5): 2149–2157. Published online 2006 Dec 13. doi: 10.1128/JVI.02302-06

PMCID:: PMC1865921

Abstract Article PDF–641K

Select item 115110111.

Primary structure of the human laminin A chain. Limited expression in human tissues.

M Nissinen, R Vuolteenaho, R Boot-Handford, P Kallunki, K Tryggvason

Biochem J. 1991 Jun 1; 276(Pt 2): 369–379. doi: 10.1042/bj2760369

PMCID:: PMC1151101

Summary Page Browse PDF–2.0M

Select item 825772012.

Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression

Peng Li Zhou, Zhengyang Wu, Wenguang Zhang, Miao Xu, Jianzhuang Ren, Qinhui Zhang, Zhanguo Sun, Xinwei Han

Cell Death Dis. 2021 Jul; 12(7): 676. Published online 2021 Jul 5. doi: 10.1038/s41419-021-03911-5

PMCID:: PMC8257720

Abstract Article PDF–5.9M

Select item 554113713.

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez, Jessica X. Chong, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Marian Lara, Fiona Ng, Victoria L. Lo, Peter Pytel, Craig M. McDonald

Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2240–2245. Published online 2017 May 25. doi: 10.1002/ajmg.a.38291

PMCID:: PMC5541137

Abstract Article PDF–479K

Select item 448121414.

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca²⁺ Pump Impairs Cellular Ca²⁺ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

Tito Calì, Raffaele Lopreiato, Joshua Shimony, Marisa Vineyard, Martina Frizzarin, Ginevra Zanni, Giuseppe Zanotti, Marisa Brini, Marwan Shinawi, Ernesto Carafoli

J Biol Chem. 2015 Jun 26; 290(26): 16132–16141. Published online 2015 May 7. doi: 10.1074/jbc.M115.656496