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Select item 93255071.

Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins

Neha Gupta, Mariavittoria D'Acierno, Enrica Zona, Giovambattista Capasso, Miriam Zacchia

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 9–19. Published online 2022 Apr 4. doi: 10.1002/ajmg.c.31970

PMCID:: PMC9325507

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Select item 77523382.

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh

Clin Case Rep. 2020 Dec; 8(12): 3110–3115. Published online 2020 Sep 21. doi: 10.1002/ccr3.3357

PMCID:: PMC7752338

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Select item 55344363.

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)

María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde

Front Mol Biosci. 2017; 4: 55. Published online 2017 Jul 31. doi: 10.3389/fmolb.2017.00055

PMCID:: PMC5534436

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Select item 47341524.

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

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Select item 28243905.

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

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Select item 12744746.

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

Philip L. Beales, Nicholas Katsanis, Richard A. Lewis, Stephen J. Ansley, Nursel Elcioglu, Jamal Raza, Michael O. Woods, Jane S. Green, Patrick S. Parfrey, William S. Davidson, James R. Lupski

Am J Hum Genet. 2001 Mar; 68(3): 606–616. Published online 2001 Feb 1. doi: 10.1086/318794

Correction in:: Am J Hum Genet. 2001 Oct; 69(4): 922.

PMCID:: PMC1274474

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Select item 90346757.

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup

Mol Genet Genomic Med. 2022 May; 10(5): e1869. Published online 2022 Mar 23. doi: 10.1002/mgg3.1869

PMCID:: PMC9034675

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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

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Select item 49788849.

Diversifying Selection Between Pure-Breed and Free-Breeding Dogs Inferred from Genome-Wide SNP Analysis

Małgorzata Pilot, Tadeusz Malewski, Andre E. Moura, Tomasz Grzybowski, Kamil Oleński, Stanisław Kamiński, Fernanda Ruiz Fadel, Abdulaziz N. Alagaili, Osama B. Mohammed, Wiesław Bogdanowicz

G3 (Bethesda) 2016 Aug; 6(8): 2285–2298. Published online 2016 May 27. doi: 10.1534/g3.116.029678

PMCID:: PMC4978884

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Select item 384581710.

Cartilage Abnormalities Associated with Defects of Chondrocytic Primary Cilia in Bardet-Biedl Syndrome Mutant Mice

Anjan P. Kaushik, James A. Martin, Qihong Zhang, Val C. Sheffield, Jose A. Morcuende

J Orthop Res. Author manuscript; available in PMC 2013 Dec 2.

Published in final edited form as: J Orthop Res. 2009 Aug; 27(8): 10.1002/jor.20855. doi: 10.1002/jor.20855

PMCID:: PMC3845817

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Select item 376618011.

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L. Beales

Hum Mol Genet. 2013 Oct 1; 22(19): 3858–3868. Published online 2013 May 27. doi: 10.1093/hmg/ddt241

PMCID:: PMC3766180

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Select item 337024612.

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

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Select item 302224513.

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Olivier Imhoff, Vincent Marion, Corinne Stoetzel, Myriam Durand, Muriel Holder, Sabine Sigaudy, Pierre Sarda, Christian P. Hamel, Christian Brandt, Hélène Dollfus, Bruno Moulin

Clin J Am Soc Nephrol. 2011 Jan; 6(1): 22–29. doi: 10.2215/CJN.03320410

PMCID:: PMC3022245

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Select item 300627814.

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

Andreas M. Beyer, Deng-Fu Guo, Val C. Sheffield, Kamal Rahmouni

Am J Physiol Heart Circ Physiol. 2010 Dec; 299(6): H1902–H1907. Published online 2010 Sep 17. doi: 10.1152/ajpheart.00336.2010

PMCID:: PMC3006278

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Select item 287268115.

CCTα and CCTδ Chaperonin Subunits Are Essential and Required for Cilia Assembly and Maintenance in Tetrahymena

Cecilia Seixas, Teresa Cruto, Alexandra Tavares, Jacek Gaertig, Helena Soares

PLoS One. 2010; 5(5): e10704. Published online 2010 May 18. doi: 10.1371/journal.pone.0010704

PMCID:: PMC2872681

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Select item 281701516.

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

Ines Pereiro, Diana Valverde, Teresa Piñeiro-Gallego, Montserrat Baiget, Salud Borrego, Carmen Ayuso, Charles Searby, Darryl Nishimura

Mol Vis. 2010; 16: 137–143. Published online 2010 Feb 1.

PMCID:: PMC2817015

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Select item 226519317.

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

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Select item 178530418.

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

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Select item 119640019.

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Houda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzales, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne-Pasquier, Anne-Lise Delezoide, Marie-Odile Peter, Ghislaine Plessis, Brigitte Simon-Bouy, Hélène Dollfus, Martine Le Merrer, Arnold Munnich, Férechté Encha-Razavi, Michel Vekemans, Tania Attié-Bitach

Am J Hum Genet. 2005 Mar; 76(3): 493–504. Published online 2005 Jan 21. doi: 10.1086/428679

PMCID:: PMC1196400

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Select item 118027120.

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

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