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Select item 79250181.

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Ghazanfar Ali, Sadia, Jia Nee Foo, Abdul Nasir, Chu-Hua Chang, Elaine GuoYan Chew, Zahid Latif, Zahid Azeem, Syeda Ain-ul-Batool, Syed Akif Raza Kazmi, Naheed Bashir Awan, Abdul Hameed Khan, Fazal-Ur- Rehman, Madiha Khalid, Abdul Wali, Samina Sarwar, Wasim Akhtar, Ansar Ahmed Abbasi, Rameez Nisar

Biomed Res Int. 2021; 2021: 6626015. Published online 2021 Feb 23. doi: 10.1155/2021/6626015

PMCID:: PMC7925018

Abstract Article PDF–1.4M

Select item 44422822.

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

Yong Mong Bee, Mayank Chawla, Yi Zhao

Biomed Res Int. 2015; 2015: 524754. Published online 2015 May 11. doi: 10.1155/2015/524754

PMCID:: PMC4442282

Abstract Article PDF–629K

Select item 74715073.

Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice

Hervé Husson, Nikolay O Bukanov, Sarah Moreno, Mandy M Smith, Brenda Richards, Cheng Zhu, Tyler Picariello, Hyejung Park, Bing Wang, Thomas A Natoli, Laurie A Smith, Stefano Zanotti, Ryan J Russo, Stephen L Madden, Katherine W Klinger, Vijay Modur, Oxana Ibraghimov-Beskrovnaya

Hum Mol Genet. 2020 Aug 29; 29(15): 2508–2522. Published online 2020 Jul 3. doi: 10.1093/hmg/ddaa138

PMCID:: PMC7471507

Abstract Article PDF–1.9M

Select item 27289964.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Loïc de Pontual, Norann A. Zaghloul, Sophie Thomas, Erica E. Davis, David M. Mcgaughey, Hélène Dollfus, Clarisse Baumann, Seneca L. Bessling, Candice Babarit, Anna Pelet, Cecilia Gascue, Philip Beales, Arnold Munnich, Stanislas Lyonnet, Heather Etchevers, Tania Attie-Bitach, Jose L. Badano, Andrew S. McCallion, Nicholas Katsanis, Jeanne Amiel

Proc Natl Acad Sci U S A. 2009 Aug 18; 106(33): 13921–13926. Published online 2009 Jul 31. doi: 10.1073/pnas.0901219106

PMCID:: PMC2728996

Abstract Article PDF–1.0M

Select item 11802715.

Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

Philip L. Beales, Jose L. Badano, Alison J. Ross, Stephen J. Ansley, Bethan E. Hoskins, Brigitta Kirsten, Charles A. Mein, Philippe Froguel, Peter J. Scambler, Richard Alan Lewis, James R. Lupski, Nicholas Katsanis

Am J Hum Genet. 2003 May; 72(5): 1187–1199. Published online 2003 Apr 3. doi: 10.1086/375178

PMCID:: PMC1180271

Abstract Article PDF–926K

Select item 98585336.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana

Genes (Basel) 2023 Jan; 14(1): 84. Published online 2022 Dec 27. doi: 10.3390/genes14010084

PMCID:: PMC9858533

Abstract Article PDF–2.0M

Select item 68272907.

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 11802408.

Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

José L. Badano, Stephen J. Ansley, Carmen C. Leitch, Richard Alan Lewis, James R. Lupski, Nicholas Katsanis

Am J Hum Genet. 2003 Mar; 72(3): 650–658. Published online 2003 Feb 3. doi: 10.1086/368204

PMCID:: PMC1180240

Abstract Article PDF–1.0M

Select item 39616649.

Interaction with the Bardet-Biedl Gene Product TRIM32/BBS11 Modifies the Half-life and Localization of Glis2/NPHP7

Haribaskar Ramachandran, Tobias Schäfer, Yunhee Kim, Konstantin Herfurth, Sylvia Hoff, Soeren S. Lienkamp, Albrecht Kramer-Zucker, Gerd Walz

J Biol Chem. 2014 Mar 21; 289(12): 8390–8401. Published online 2014 Feb 5. doi: 10.1074/jbc.M113.534024

PMCID:: PMC3961664

Abstract Article PDF–2.3M

Select item 1007411810.

Ubiquitylation of BBSome is required for ciliary assembly and signaling

Francesco Chiuso, Rossella delle Donne, Giuliana Giamundo, Laura Rinaldi, Domenica Borzacchiello, Federica Moraca, Daniela Intartaglia, Rosa Iannucci, Emanuela Senatore, Luca Lignitto, Corrado Garbi, Paolo Conflitti, Bruno Catalanotti, Ivan Conte, Antonio Feliciello

EMBO Rep. 2023 Apr; 24(4): e55571. Published online 2023 Feb 6. doi: 10.15252/embr.202255571

PMCID:: PMC10074118

Abstract Article PDF–6.3M

Select item 226519311.

Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

Alok S. Shah, Sara L. Farmen, Thomas O. Moninger, Thomas R. Businga, Michael P. Andrews, Kevin Bugge, Charles C. Searby, Darryl Nishimura, Kim A. Brogden, Joel N. Kline, Val C. Sheffield, Michael J. Welsh

Proc Natl Acad Sci U S A. 2008 Mar 4; 105(9): 3380–3385. Published online 2008 Feb 25. doi: 10.1073/pnas.0712327105

PMCID:: PMC2265193

Abstract Article PDF–1.2M

Select item 438006812.

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 265577313.

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

Seongjin Seo, Deng-Fu Guo, Kevin Bugge, Donald A. Morgan, Kamal Rahmouni, Val C. Sheffield

Hum Mol Genet. 2009 Apr 1; 18(7): 1323–1331. Published online 2009 Jan 15. doi: 10.1093/hmg/ddp031

PMCID:: PMC2655773

Abstract Article PDF–434K

Select item 764229514.

Dlec1 is required for spermatogenesis and male fertility in mice

Yu Okitsu, Mamoru Nagano, Takahiro Yamagata, Chizuru Ito, Kiyotaka Toshimori, Hideo Dohra, Wataru Fujii, Keiichiro Yogo

Sci Rep. 2020; 10: 18883. Published online 2020 Nov 3. doi: 10.1038/s41598-020-75957-y

PMCID:: PMC7642295

Abstract Article PDF–2.3M

Select item 272792815.

PCM1 is recruited to the centrosome by the cooperative action of DISC1 and BBS4 and is a candidate for psychiatric illness

Atsushi Kamiya, Perciliz L. Tan, Ken-ichiro Kubo, Caitlin Engelhard, Koko Ishizuka, Akiharu Kubo, Sachiko Tsukita, Ann E. Pulver, Kazunori Nakajima, Nicola G. Cascella, Nicholas Katsanis, Akira Sawa

Arch Gen Psychiatry. Author manuscript; available in PMC 2009 Aug 17.

Published in final edited form as: Arch Gen Psychiatry. 2008 Sep; 65(9): 996–1006. doi: 10.1001/archpsyc.65.9.996

PMCID:: PMC2727928

Abstract Article PDF–3.5M

Select item 328387316.

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 320791017.

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

Seongjin Seo, Qihong Zhang, Kevin Bugge, David K. Breslow, Charles C. Searby, Maxence V. Nachury, Val C. Sheffield

PLoS Genet. 2011 Nov; 7(11): e1002358. Published online 2011 Nov 3. doi: 10.1371/journal.pgen.1002358

PMCID:: PMC3207910

Abstract Article PDF–6.1M

Select item 325114518.

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Qihong Zhang, Darryl Nishimura, Seongjin Seo, Tim Vogel, Donald A. Morgan, Charles Searby, Kevin Bugge, Edwin M. Stone, Kamal Rahmouni, Val C. Sheffield

Proc Natl Acad Sci U S A. 2011 Dec 20; 108(51): 20678–20683. Published online 2011 Dec 2. doi: 10.1073/pnas.1113220108

PMCID:: PMC3251145

Abstract Article PDF–1.2M

Select item 337024619.

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 271595020.

Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup'ik Eskimo Populations

Wendy K. Chung, Amit Patki, Naoki Matsuoka, Bert B. Boyer, Nianjun Liu, Solomon K. Musani, Anna V. Goropashnaya, Perciliz L. Tan, Nicholas Katsanis, Stephen B. Johnson, Peter K. Gregersen, David B. Allison, Rudolph L. Leibel, Hemant K. Tiwari

Hum Hered. 2009 Feb; 67(3): 193–205. Published online 2008 Dec 15. doi: 10.1159/000181158

PMCID:: PMC2715950

Abstract Article PDF–636K

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