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Select item 55344361.

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

Abstract Article PDF–605K

Select item 17853042.

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 28243903.

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 28838494.

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

B. Pawlik, A. Mir, H. Iqbal, Y. Li, G. Nürnberg, C. Becker, R. Qamar, P. Nürnberg, B. Wollnik

Mol Syndromol. 2010 Feb; 1(1): 27–34. Published online 2010 Jan 15. doi: 10.1159/000276763

PMCID:: PMC2883849

Abstract Article PDF–600K

Select item 58933015.

Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing

Emad Nikkhah, Reza Safaralizadeh, Javad Mohammadiasl, Maryam Tahmasebi Birgani, Mohammad Ali Hosseinpour Feizi, Neda Golchin

Cell J. 2018 Summer; 20(2): 284–289. Published online 2018 Mar 18. doi: 10.22074/cellj.2018.5012.

PMCID:: PMC5893301

Abstract Article PDF–966K

Select item 85674656.

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report

Ina Ofelia Focșa, Magdalena Budișteanu, Carmen Burloiu, Sheraz Khan, Azita Sadeghpour, Laurențiu C. Bohîlțea, Erica E. Davis, Mihaela Bălgrădean

Biomed Rep. 2021 Dec; 15(6): 103. Published online 2021 Oct 21. doi: 10.3892/br.2021.1479

PMCID:: PMC8567465

Abstract Article PDF–1.9M

Select item 105247267.

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Nedelea, Laurențiu Bohîlțea, Lavinia Caba, Lăcrămioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Emandi-Chiriță, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean, Erica E. Davis

Am J Med Genet A. Author manuscript; available in PMC 2024 Sep 1.

Published in final edited form as: Am J Med Genet A. 2023 Sep; 191(9): 2376–2391. Published online 2023 Jun 9. doi: 10.1002/ajmg.a.63322

PMCID:: PMC10524726

Abstract Article PDF–1.5M

Select item 58695938.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Iker Sanchez-Navarro, Luciana R. J. da Silva, Fiona Blanco-Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, Maria Isabel Lopez-Molina, Blanca Garcia-Sandoval, Saoud Tahsin-Swafiri, Pablo Minguez, Rosa Riveiro-Alvarez, Isabel Lorda, Rocío Sanchez-Alcudia, Raquel Perez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Hakon Hakonarson, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso

Sci Rep. 2018; 8: 5285. Published online 2018 Mar 27. doi: 10.1038/s41598-018-23520-1

PMCID:: PMC5869593

Abstract Article PDF–2.3M

Select item 30222459.

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

Abstract Article

Select item 337024610.

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 348134311.

Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability

Anais Mockel, Cathy Obringer, Theodorus B. M. Hakvoort, Mathias Seeliger, Wouter H. Lamers, Corinne Stoetzel, Hélène Dollfus, Vincent Marion

J Biol Chem. 2012 Oct 26; 287(44): 37483–37494. Published online 2012 Aug 6. doi: 10.1074/jbc.M112.386821

PMCID:: PMC3481343

Abstract Article PDF–4.0M

Select item 363894212.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, C. Stoetzel, M. C. Vincent, C. C. Leitch, V. Laurier, J. M. Danse, S. Hellé, V. Marion, V. Bennouna-Greene, S. Vicaire, A. Megarbane, J. Kaplan, V. Drouin-Garraud, M. Hamdani, S. Sigaudy, C. Francannet, J. Roume, P. Bitoun, A. Goldenberg, N. Philip, S. Odent, J. Green, M. Cossée, E. E. Davis, N. Katsanis, D. Bonneau, A. Verloes, O. Poch, J. L. Mandel, H. Dollfus

Hum Genet. Author manuscript; available in PMC 2013 Apr 29.

Published in final edited form as: Hum Genet. 2010 Mar; 127(5): 583–593. Published online 2010 Feb 23. doi: 10.1007/s00439-010-0804-9

PMCID:: PMC3638942

Abstract Article PDF–1.0M

Select item 364661913.

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Sabine Janssen, Gokul Ramaswami, Erica E. Davis, Toby Hurd, Rannar Airik, Jennifer M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt

Hum Genet. Author manuscript; available in PMC 2013 May 7.

Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 79–90. Published online 2010 Oct 30. doi: 10.1007/s00439-010-0902-8

PMCID:: PMC3646619

Abstract Article PDF–940K

Select item 409569914.

Polarity gene alterations in pure invasive micropapillary carcinomas of the breast

Nadège Gruel, Vanessa Benhamo, Jaydutt Bhalshankar, Tatiana Popova, Paul Fréneaux, Laurent Arnould, Odette Mariani, Marc-Henri Stern, Virginie Raynal, Xavier Sastre-Garau, Roman Rouzier, Olivier Delattre, Anne Vincent-Salomon

Breast Cancer Res. 2014; 16(3): R46. Published online 2014 May 8. doi: 10.1186/bcr3653

PMCID:: PMC4095699

Abstract Article PDF–1.6M

Select item 473415215.

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

Abstract Article PDF–1.4M

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

Abstract Article PDF–1.6M

Select item 599112117.

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 602270718.

Comprehensive transcriptomic analysis of heat shock proteins in the molecular subtypes of human breast cancer

Felipe C. M. Zoppino, Martin E. Guerrero-Gimenez, Gisela N. Castro, Daniel R. Ciocca

BMC Cancer. 2018; 18: 700. Published online 2018 Jun 28. doi: 10.1186/s12885-018-4621-1

PMCID:: PMC6022707

Abstract Article PDF–4.8M

Select item 694715719.

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, George Cherfan, Kazem Zibara, Isabelle Audo, Christina Zeitz, Said El Shamieh

Genes (Basel) 2019 Dec; 10(12): 1047. Published online 2019 Dec 16. doi: 10.3390/genes10121047

PMCID:: PMC6947157

Abstract Article PDF–2.9M

Select item 789860720.

Ciliopathies: Coloring outside of the lines

Alanna Strong, Dong Li, Frank Mentch, Emma Bedoukian, Erum A. Hartung, Kevin Meyers, Cara Skraban, Jessica Wen, Livija Medne, Joseph Glessner, Deborah Watson, Ian Krantz, Hakon Hakonarson

Am J Med Genet A. 2021 Mar; 185(3): 687–694. Published online 2020 Dec 25. doi: 10.1002/ajmg.a.62013

PMCID:: PMC7898607

Abstract Article PDF–1.3M

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