PMC Links for Gene (Select 79738) - PMC

Links from Gene

Items: 1 to 20 of 23

<< First< Prev

Page of 2

Select item 94093681.

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

Abstract Article PDF–12M

Select item 87110062.

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

Abstract Article PDF–1.8M

Select item 76939163.

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 59911214.

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

Abstract Article PDF–619K

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 78662846.

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

Abstract Article PDF–7.7M

Select item 82624817.

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

Abstract Article PDF–10M

Select item 55244338.

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

Abstract Article PDF–4.1M

Select item 25841519.

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

Abstract Article PDF–1.1M

Select item 422563810.

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

Abstract Article PDF–1.6M

Select item 178530411.

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 328387312.

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

Abstract Article

Select item 337024613.

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

Abstract Article PDF–2.3M

Select item 282439014.

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 284693015.

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 566346516.

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

Abstract Article PDF–2.1M

Select item 476457317.

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

Abstract Article PDF–5.7M

Select item 135612918.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 553161119.

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 816503020.

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

Abstract Article PDF–2.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 23

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity