PMC Links for GEO Profiles (Select 5052020) - PMC

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 76939164.

Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance

Krzysztof Jeziorny, Karolina Antosik, Paulina Jakiel, Wojciech Młynarski, Maciej Borowiec, Agnieszka Zmysłowska

Genes (Basel) 2020 Nov; 11(11): 1283. Published online 2020 Oct 29. doi: 10.3390/genes11111283

PMCID:: PMC7693916

Abstract Article PDF–575K

Select item 68272905.

Molecular architecture of the Bardet–Biedl syndrome protein 2-7-9 subcomplex

W. Grant Ludlam, Takuma Aoba, Jorge Cuéllar, M. Teresa Bueno-Carrasco, Aman Makaju, James D. Moody, Sarah Franklin, José M. Valpuesta, Barry M. Willardson

J Biol Chem. 2019 Nov 1; 294(44): 16385–16399. Published online 2019 Sep 17. doi: 10.1074/jbc.RA119.010150

PMCID:: PMC6827290

Abstract Article PDF–5.0M

Select item 66876446.

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Jasmin Blatterer, Ricarda Graf, Aisha Gul, Safdar Abbas, Muhammad Badar, Ansar Ahmad Abbasi, Muzammil Ahmad Khan, Christian Windpassinger

Mol Genet Genomic Med. 2019 Aug; 7(8): e834. Published online 2019 Jul 11. doi: 10.1002/mgg3.834

PMCID:: PMC6687644

Abstract Article PDF–550K

Select item 61666827.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 59700908.

BBS9 gene in nonsyndromic craniosynostosis: role of the primary cilium in the aberrant ossification of the suture osteogenic niche

Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A. Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon Antonov Boyadjiev, Wanda Lattanzi

Bone. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Bone. 2018 Jul; 112: 58–70. Published online 2018 Apr 17. doi: 10.1016/j.bone.2018.04.013

Correction in:: Bone. 2019 Apr; 121: 293.

PMCID:: PMC5970090

Abstract Article PDF–1.5M

Select item 58269269.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 553161110.

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 486917011.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 482169412.

Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat

Yun Ju Sung, Louis Pérusse, Mark A. Sarzynski, Myriam Fornage, Steve Sidney, Barbara Sternfeld, Treva Rice, Gregg Terry, David R. Jacobs, Jr., Peter Katzmarzyk, Joanne E Curran, John Jeffrey Carr, John Blangero, Sujoy Ghosh, Jean-Pierre Després, Tuomo Rankinen, D.C. Rao, Claude Bouchard

Int J Obes (Lond) Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Int J Obes (Lond). 2016 Apr; 40(4): 662–674. Published online 2015 Oct 20. doi: 10.1038/ijo.2015.217

PMCID:: PMC4821694

Abstract Article PDF–562K

Select item 474319813.

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, Christian Windpassinger

BMC Med Genet. 2016; 17: 10. Published online 2016 Feb 4. doi: 10.1186/s12881-016-0271-9

PMCID:: PMC4743198

Abstract Article PDF–623K

Select item 461721114.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 452812415.

Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9)

Kevin E. Knockenhauer, Thomas U. Schwartz

J Biol Chem. 2015 Aug 7; 290(32): 19569–19583. Published online 2015 Jun 17. doi: 10.1074/jbc.M115.649202

PMCID:: PMC4528124

Abstract Article PDF–7.5M

Select item 444240516.

The Endoplasmic Reticulum Membrane J Protein C18 Executes a Distinct Role in Promoting Simian Virus 40 Membrane Penetration

Parikshit Bagchi, Christopher Paul Walczak, Billy Tsai

J Virol. 2015 Apr 15; 89(8): 4058–4068. Published online 2015 Jan 28. doi: 10.1128/JVI.03574-14

PMCID:: PMC4442405

Abstract Article PDF–2.4M

Select item 438006817.

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

Marine Barbelanne, Delowar Hossain, David Puth Chan, Johan Peränen, William Y. Tsang

Hum Mol Genet. 2015 Apr 15; 24(8): 2185–2200. Published online 2014 Dec 30. doi: 10.1093/hmg/ddu738

PMCID:: PMC4380068

Abstract Article PDF–1.6M

Select item 404386818.

Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries

Zhen Zeng, Eleanor Feingold, Xiaojing Wang, Daniel E. Weeks, Myoungkeun Lee, Karen T. Cuenco, Barbara Broffitt, Robert J. Weyant, Richard Crout, Daniel W. McNeil, Steven M. Levy, Mary L. Marazita, John. R. Shaffer

Caries Res. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Caries Res. 2014; 48(4): 330–338. doi: 10.1159/000356299

PMCID:: PMC4043868

Abstract Article PDF–225K

Select item 392368319.

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

Xitiz Chamling, Seongjin Seo, Charles C. Searby, GunHee Kim, Diane C. Slusarski, Val C. Sheffield

PLoS Genet. 2014 Feb; 10(2): e1004083. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004083

PMCID:: PMC3923683

Abstract Article PDF–1.6M

Select item 385794320.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C. Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2014 Jan 1; 23(1): 40–51. Published online 2013 Aug 13. doi: 10.1093/hmg/ddt394

PMCID:: PMC3857943

Abstract Article PDF–1.7M

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