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Items: 1 to 20 of 23

1.
Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet–Biedl Syndrome
Emanuela Marchese, Marianna Caterino, Roberta Fedele, Francesca Pirozzi, Armando Cevenini, Neha Gupta, Diego Ingrosso, Alessandra Perna, Giovambattista Capasso, Margherita Ruoppolo, Miriam Zacchia
Int J Mol Sci. 2022 Aug; 23(16): 9420. Published online 2022 Aug 20. doi: 10.3390/ijms23169420
PMCID:
PMC9409368
AbstractArticlePDF–12M
2.
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Invest Ophthalmol Vis Sci. 2021 Dec; 62(15): 26. Published online 2021 Dec 23. doi: 10.1167/iovs.62.15.26
PMCID:
PMC8711006
AbstractArticlePDF–1.8M
3.
Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons
Liheng Wang, Yang Liu, George Stratigopoulos, Sunil Panigrahi, Lina Sui, Yiying Zhang, Charles A. Leduc, Hannah J. Glover, Maria Caterina De Rosa, Lisa C. Burnett, Damian J. Williams, Linshan Shang, Robin Goland, Stephen H. Tsang, Sharon Wardlaw, Dieter Egli, Deyou Zheng, Claudia A. Doege, Rudolph L. Leibel
J Clin Invest. 2021 Apr 15; 131(8): e146287. Published online 2021 Apr 15. doi: 10.1172/JCI146287
PMCID:
PMC8262481
AbstractArticlePDF–10M
4.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
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
AbstractArticlePDF–2.2M
5.
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Int J Mol Sci. 2021 Feb; 22(3): 1345. Published online 2021 Jan 29. doi: 10.3390/ijms22031345
PMCID:
PMC7866284
AbstractArticlePDF–7.7M
6.
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
AbstractArticlePDF–575K
7.
Screening for mutation hotspots in Bardet–Biedl syndrome patients from India
Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani
Indian J Med Res. 2018 Feb; 147(2): 177–182. doi: 10.4103/ijmr.IJMR_1822_15
PMCID:
PMC5991121
AbstractArticlePDF–619K
8.
A Global Analysis of The Receptor Tyrosine Kinase – Protein Phosphatase Interactome
Zhong Yao, Katelyn Darowski, Nicole St-Denis, Victoria Wong, Fabian Offensperger, Annabel Villedieu, Shahreen Amin, Ramy Malty, Hiroyuki Aoki, Hongbo Guo, Yang Xu, Caterina Iorio, Max Kotlyar, Andrew Emili, Igor Jurisica, Benjamin G Neel, Mohan Babu, Anne-Claude Gingras, Igor Stagljar
Mol Cell. Author manuscript; available in PMC 2017 Oct 31.
Published in final edited form as: Mol Cell. 2017 Jan 19; 65(2): 347–360. Published online 2017 Jan 5. doi: 10.1016/j.molcel.2016.12.004
PMCID:
PMC5663465
AbstractArticlePDF–2.1M
9.
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
AbstractArticlePDF–2.7M
10.
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-ud-din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad
Mol Vis. 2017; 23: 482–494. Published online 2017 Jul 21.
PMCID:
PMC5524433
AbstractArticlePDF–4.1M
11.
A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning
Koray Kırlı, Samir Karaca, Heinz Jürgen Dehne, Matthias Samwer, Kuan Ting Pan, Christof Lenz, Henning Urlaub, Dirk Görlich
eLife. 2015; 4: e11466. Published online 2015 Dec 17. doi: 10.7554/eLife.11466
PMCID:
PMC4764573
AbstractArticlePDF–5.7M
12.
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity
Elaine T. Lim, Yangfan P. Liu, Yingleong Chan, Tuomi Tiinamaija, AnnMari Käräjämäki, Erik Madsen, Go-T2D Consortium, David M. Altshuler, Soumya Raychaudhuri, Leif Groop, Jason Flannick, Joel N. Hirschhorn, Nicholas Katsanis, Mark J. Daly
Am J Hum Genet. 2014 Nov 6; 95(5): 509–520. doi: 10.1016/j.ajhg.2014.09.015
PMCID:
PMC4225638
AbstractArticlePDF–1.6M
13.
Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome
Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield
J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487
PMCID:
PMC3370246
AbstractArticlePDF–2.3M
14.
Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation
Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano
J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375
PMCID:
PMC3283873
AbstractArticle
15.
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
AbstractArticlePDF–1.0M
16.
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
AbstractArticlePDF–1.2M
17.
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
AbstractArticlePDF–1009K
18.
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
AbstractArticlePDF–1.5M
19.
Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography
Christina Gerth, Robert J. Zawadzki, John S. Werner, Elise Héon
Vision Res. Author manuscript; available in PMC 2009 Feb 1.
Published in final edited form as: Vision Res. 2008 Feb; 48(3): 392–399. Published online 2007 Nov 5. doi: 10.1016/j.visres.2007.08.024
PMCID:
PMC2584151
AbstractArticlePDF–1.1M
20.
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
AbstractArticlePDF–1.6M

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