PMC Links for Protein (Select 11133565) - PMC

Select item 55500101.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

Charles Anthony Scott, Autumn N. Marsden, Michael R. Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C. Searby, Lisa M. Baye, Val C. Sheffield, Diane C. Slusarski

PLoS Genet. 2017 Jul; 13(7): e1006936. Published online 2017 Jul 28. doi: 10.1371/journal.pgen.1006936

PMCID:: PMC5550010

Article PDF–37M

Select item 55244332.

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

Article PDF–4.1M

Select item 47341523.

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

Article PDF–1.4M

Select item 32343734.

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, Francois P. Bernier, Albert E. Chudley, Thomas Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra M. Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott

Am J Hum Genet. 2011 Dec 9; 89(6): 713–730. doi: 10.1016/j.ajhg.2011.11.005

PMCID:: PMC3234373

Article PDF–2.0M

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

Article PDF–1009K

Select item 22629926.

MKKS Is a Centrosome-shuttling Protein Degraded by Disease-causing Mutations via CHIP-mediated Ubiquitination

Shoshiro Hirayama, Yuji Yamazaki, Akira Kitamura, Yukako Oda, Daisuke Morito, Katsuya Okawa, Hiroshi Kimura, Douglas M. Cyr, Hiroshi Kubota, Kazuhiro Nagata

Mol Biol Cell. 2008 Mar; 19(3): 899–911. doi: 10.1091/mbc.E07-07-0631

PMCID:: PMC2262992

Article PDF–1.6M

Select item 22136767.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399

PMCID:: PMC2213676

Article PDF–939K

Select item 17355588.

Further support for digenic inheritance in Bardet-Biedl syndrome

S Fauser, M Munz, D Besch

J Med Genet. 2003 Aug; 40(8): e104. doi: 10.1136/jmg.40.8.e104

PMCID:: PMC1735558

Summary PDF–93K

Select item 12744749.

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

Article PDF–2.0M

Select item 119640010.

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

Article PDF–1.1M

Select item 118027111.

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

Article PDF–926K

Select item 673694912.

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

Sheila Castro-Sánchez, Paula Suarez-Bregua, Rossina Novas, María Álvarez-Satta, Jose L. Badano, Josep Rotllant, Diana Valverde

Sci Rep. 2019; 9: 12936. Published online 2019 Sep 10. doi: 10.1038/s41598-019-49217-7

Correction in:: Sci Rep. 2020; 10: 2876.

PMCID:: PMC6736949

Article PDF–3.5M

Select item 642049813.

Bridging human chaperonopathies and microbial chaperonins

Everly Conway de Macario, Masafumi Yohda, Alberto J. L. Macario, Frank T. Robb

Commun Biol. 2019; 2: 103. Published online 2019 Mar 15. doi: 10.1038/s42003-019-0318-5

PMCID:: PMC6420498

Article PDF–1.2M

Select item 563697814.

LRP6 is identified as a potential prognostic marker for oral squamous cell carcinoma via MALDI-IMS

Yao Yuan, Xiaoyan Xie, Yuchen Jiang, Zihao Wei, Peiqi Wang, Fangman Chen, Xinyi Li, Chongkui Sun, Hang Zhao, Xin Zeng, Lu Jiang, Yu Zhou, Hongxia Dan, Mingye Feng, Rui Liu, Zhiyong Wang, Qianming Chen

Cell Death Dis. 2017 Sep; 8(9): e3035. Published online 2017 Sep 7. doi: 10.1038/cddis.2017.433

PMCID:: PMC5636978

Article PDF–5.6M

Select item 522005515.

Prokaryotic Chaperonins as Experimental Models for Elucidating Structure-Function Abnormalities of Human Pathogenic Mutant Counterparts

Everly Conway de Macario, Frank T. Robb, Alberto J. L. Macario

Front Mol Biosci. 2016; 3: 84. Published online 2017 Jan 9. doi: 10.3389/fmolb.2016.00084

PMCID:: PMC5220055

Article PDF–2.5M

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