PMC Links for Nucleotide (Select 1519314738) - PMC

Select item 55316111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 47341522.

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

John D. Hulleman, Annie Nguyen, V.L. Ramprasad, Sakthivel Murugan, Ravi Gupta, Avinash Mahindrakar, Ravi Angara, Chandrasekhar Sankurathri, V. Vinod Mootha

Mol Vis. 2016; 22: 73–81. Published online 2016 Jan 24.

PMCID:: PMC4734152

Abstract Article PDF–1.4M

Select item 28469303.

Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes

Krishanu Mukherjee, Everly Conway de Macario, Alberto JL Macario, Luciano Brocchieri

BMC Evol Biol. 2010; 10: 64. Published online 2010 Mar 1. doi: 10.1186/1471-2148-10-64

PMCID:: PMC2846930

Abstract Article PDF–1.2M

Select item 28243904.

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Seongjin Seo, Lisa M. Baye, Nathan P. Schulz, John S. Beck, Qihong Zhang, Diane C. Slusarski, Val C. Sheffield

Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4): 1488–1493. Published online 2010 Jan 6. doi: 10.1073/pnas.0910268107

PMCID:: PMC2824390

Abstract Article PDF–1009K

Select item 26353075.

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Vincent Marion, Corinne Stoetzel, Dominique Schlicht, Nadia Messaddeq, Michael Koch, Elisabeth Flori, Jean Marc Danse, Jean-Louis Mandel, Hélène Dollfus

Proc Natl Acad Sci U S A. 2009 Feb 10; 106(6): 1820–1825. Published online 2009 Feb 3. doi: 10.1073/pnas.0812518106

PMCID:: PMC2635307

Abstract Article PDF–1.5M

Select item 17853046.

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy J. L. de Ravel, Richard Alan Lewis, Evelyne Friederich, Christelle Thibault, Jean-Marc Danse, Alain Verloes, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, Jean-Louis Mandel, Hélène Dollfus

Am J Hum Genet. 2007 Jan; 80(1): 1–11. Published online 2006 Nov 15. doi: 10.1086/510256

PMCID:: PMC1785304

Abstract Article PDF–1.6M

Select item 62754247.

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family

Ahoura Nozari, Ehsan Aghaei-Moghadam, Aliakbar Zeinaloo, Afagh Alavi, Saghar Ghasemi Firouzabdi, Shohre Minaee, Marzieh Eskandari Hesari, Farkhondeh Behjati

Cell J. 2019 Spring; 21(1): 70–77. Published online 2018 Nov 18. doi: 10.22074/cellj.2019.5734

PMCID:: PMC6275424

Abstract Article PDF–1.0M

Select item 50051168.

Valproic acid improves second-line regimen of small cell lung carcinoma in preclinical models

Roland Hubaux, Fabian Vandermeers, Jean-Philippe Cosse, Cecilia Crisanti, Veena Kapoor, Steven M. Albelda, Céline Mascaux, Philippe Delvenne, Pascale Hubert, Luc Willems

ERJ Open Res. 2015 Oct; 1(2): 00028-2015. Published online 2015 Oct 19. doi: 10.1183/23120541.00028-2015

PMCID:: PMC5005116

Abstract Article PDF–744K

Select item 36466199.

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Sabine Janssen, Gokul Ramaswami, Erica E. Davis, Toby Hurd, Rannar Airik, Jennifer M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt

Hum Genet. Author manuscript; available in PMC 2013 May 7.

Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 79–90. Published online 2010 Oct 30. doi: 10.1007/s00439-010-0902-8

PMCID:: PMC3646619

Abstract Article PDF–940K

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