PMC Links for Nucleotide (Select 1519313065) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 56793292.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer

Mol Autism. 2017; 8: 59. Published online 2017 Nov 9. doi: 10.1186/s13229-017-0175-3

PMCID:: PMC5679329

Abstract Article PDF–1.2M

Select item 33528983.

Cystatin A, a Potential Common Link for Mutant Myocilin Causative Glaucoma

K. David Kennedy, S. A. AnithaChristy, LaKisha K. Buie, Teresa Borrás

PLoS One. 2012; 7(5): e36301. Published online 2012 May 15. doi: 10.1371/journal.pone.0036301

PMCID:: PMC3352898

Abstract Article PDF–1.8M

Select item 28201854.

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera Kalscheuer, Barbara Oehl-Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gecz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, Arjan P.M. de Brouwer, Daniela Toniolo, Patrizia D'Adamo

Am J Hum Genet. 2010 Feb 12; 86(2): 185–195. doi: 10.1016/j.ajhg.2010.01.011

PMCID:: PMC2820185

Abstract Article PDF–1.0M

Select item 61744585.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 42912416.

Prioritizing genes for X-linked diseases using population exome data

Xiaoyan Ge, Pui-Yan Kwok, Joseph T.C. Shieh

Hum Mol Genet. 2015 Feb 1; 24(3): 599–608. Published online 2014 Sep 12. doi: 10.1093/hmg/ddu473

PMCID:: PMC4291241

Abstract Article PDF–439K

Select item 40286917.

Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling: implications in ADPKD cell proliferation

Gianluca Aguiari, Fabiana Bizzarri, Anna Bonon, Alessandra Mangolini, Eros Magri, Massimo Pedriali, Patrizia Querzoli, Stefan Somlo, Peter C. Harris, Luigi Catizone, Laura del Senno

J Mol Med (Berl) Author manuscript; available in PMC 2014 May 21.

Published in final edited form as: J Mol Med (Berl). 2012 Nov; 90(11): 1267–1282. Published online 2012 May 9. doi: 10.1007/s00109-012-0902-3

PMCID:: PMC4028691

Abstract Article PDF–2.1M

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