PMC Links for Gene (Select 126206) - PMC

Select item 69073511.

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Orazio Palumbo, Massimo Carella, Deborah J. G. Mackay, Faisal I. Rezwan, Claudia Angelini, Flavia Cerrato, Maria Vittoria Cubellis, Andrea Riccio

Clin Epigenetics. 2019; 11: 190. Published online 2019 Dec 11. doi: 10.1186/s13148-019-0760-8

PMCID:: PMC6907351

Abstract Article PDF–1.4M

Select item 45683032.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Louise E. Docherty, Faisal I. Rezwan, Rebecca L. Poole, Claire L. S. Turner, Emma Kivuva, Eamonn R. Maher, Sarah F. Smithson, Julian P. Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I. Karen Temple, Deborah J. G. Mackay

Nat Commun. 2015; 6: 8086. Published online 2015 Sep 1. doi: 10.1038/ncomms9086

PMCID:: PMC4568303

Abstract Article PDF–499K

Select item 100872543.

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang

Hum Mutat. 2022 Dec; 43(12): 1909–1920. Published online 2022 Aug 30. doi: 10.1002/humu.24448

PMCID:: PMC10087254

Abstract Article PDF–6.1M

Select item 89954044.

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest

Lingli Huang, Yu Wang, Fangting Lu, Qi Jin, Gaojie Song, Jingjuan Ji, Lihua Luo, Rentao Jin, Xianhong Tong

J Assist Reprod Genet. 2022 Mar; 39(3): 711–718. Published online 2022 Jan 28. doi: 10.1007/s10815-022-02412-4

PMCID:: PMC8995404

Abstract Article PDF–1.4M

Select item 39605965.

The role of MATER in endoplasmic reticulum distribution and calcium homeostasis in mouse oocytes

Boram Kim, Xuesen Zhang, Rui Kan, Roy Cohen, Chinatsu Mukai, Alexander J. Travis, Scott A. Coonrod

Dev Biol. Author manuscript; available in PMC 2015 Feb 15.

Published in final edited form as: Dev Biol. 2014 Feb 15; 386(2): 331–339. Published online 2013 Dec 25. doi: 10.1016/j.ydbio.2013.12.025

PMCID:: PMC3960596

Abstract Article PDF–908K

Select item 85527186.

Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5 in HCV-Infected Cells

Akshaya Ramachandran, Binod Kumar, Gulam Waris, David Everly

Microbiol Spectr. 2021 Jul-Aug; 9(1): 10.1128/spectrum.00755-21. Published online 2021 Aug 25. doi: 10.1128/spectrum.00755-21

PMCID:: PMC8552718

Abstract Article PDF–2.2M

Select item 33552477.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

Anne Rovelet-Lecrux, Solenn Legallic, David Wallon, Jean-Michel Flaman, Olivier Martinaud, Stéphanie Bombois, Adeline Rollin-Sillaire, Agnès Michon, Isabelle Le Ber, Jérémie Pariente, Michèle Puel, Claire Paquet, Bernard Croisile, Catherine Thomas-Antérion, Martine Vercelletto, Richard Lévy, Thierry Frébourg, Didier Hannequin, Dominique Campion, Investigators of the GMAJ project

Eur J Hum Genet. 2012 Jun; 20(6): 613–617. Published online 2011 Dec 14. doi: 10.1038/ejhg.2011.225

PMCID:: PMC3355247

Abstract Article PDF–330K

Select item 29672978.

A large-scale candidate-gene association study of age at menarche and age at natural menopause

Chunyan He, Peter Kraft, Daniel I. Chasman, Julie E. Buring, Constance Chen, Susan E. Hankinson, Guillaume Paré, Stephen Chanock, Paul M. Ridker, David J. Hunter

Hum Genet. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Hum Genet. 2010 Nov; 128(5): 515–527. Published online 2010 Aug 24. doi: 10.1007/s00439-010-0878-4

PMCID:: PMC2967297

Abstract Article PDF–84K

Select item 59993969.

The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation

Tyler B Faust, Yang Li, Curtis W Bacon, Gwendolyn M Jang, Amit Weiss, Bhargavi Jayaraman, Billy W Newton, Nevan J Krogan, Iván D'Orso, Alan D Frankel

eLife. 2018; 7: e31879. Published online 2018 May 30. doi: 10.7554/eLife.31879

PMCID:: PMC5999396

Abstract Article PDF–3.6M

Select item 677813710.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 289646411.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 503652712.

Panorama of ancient metazoan macromolecular complexes

Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili

Nature. Author manuscript; available in PMC 2016 Sep 26.

Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877

PMCID:: PMC5036527

Abstract Article PDF–4.7M

Select item 317805913.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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