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Items: 1 to 20 of 51

1.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
Clarisse Delvallée, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C. Leitch, Georgios Kellaris, Corinne Stoetzel, Véronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-François Deleuze, Emmanuelle Génin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E. Davis, Hélène Dollfus, Jean Muller
Clin Genet. Author manuscript; available in PMC 2021 Jul 2.
Published in final edited form as: Clin Genet. 2021 Feb; 99(2): 318–324. Published online 2020 Nov 14. doi: 10.1111/cge.13878
PMCID:
PMC8253169
AbstractArticlePDF–851K
2.
The Bardet-Biedl Syndrome complex component BBS1 controls T cell polarity during immune synapse assembly
Chiara Cassioli, Anna Onnis, Francesca Finetti, Nagaja Capitani, Jlenia Brunetti, Ewoud B Compeer, Veronika Niederlova, Ondrej Stepanek, Michael L Dustin, Cosima T Baldari
J Cell Sci. Author manuscript; available in PMC 2022 Sep 15.
Published in final edited form as: J Cell Sci. 2021 Aug 15; 134(16): jcs258462. Published online 2021 Aug 23. doi: 10.1242/jcs.258462
PMCID:
PMC7613584
AbstractArticlePDF–3.4M
3.
Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome
Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Héon
Mol Genet Genomic Med. 2019 Feb; 7(2): e00521. Published online 2018 Nov 28. doi: 10.1002/mgg3.521
PMCID:
PMC6393654
AbstractArticlePDF–523K
4.
Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome
E Forsythe, K Sparks, BE Hoskins, E Bagkeris, BM McGowan, PV Carroll, MSB Huda, S Mujahid, C Peters, T Barrett, S Mohammed, PL Beales
Clin Genet. 2015 Apr; 87(4): 343–349. Published online 2014 Apr 8. doi: 10.1111/cge.12373
Correction in:
Clin Genet. 2016 May; 89(5): 636.
PMCID:
PMC4402025
AbstractArticlePDF–756K
5.
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
Muhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, Ali Tayyab, Sulman Jaffar, Ahmed Sadeque, Humaira Ayub, Nasir Mahmood Abbasi, Moeen Riaz, Shazia Micheal, Christian Gilissen, Syeda Hafiza Benish Ali, Maleeha Azam, Rob W. J. Collin, Frans P. M. Cremers, Raheel Qamar
Mol Vis. 2013; 19: 644–653. Published online 2013 Mar 21.
PMCID:
PMC3616519
AbstractArticlePDF–1.2M
6.
A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1) Interval to 1 cM
Terry-Lynn Young, Michael O. Woods, Patrick S. Parfrey, Jane S. Green, Donna Hefferton, William S. Davidson
Am J Hum Genet. 1999 Dec; 65(6): 1680–1687. Published online 1999 Nov 19. doi: 10.1086/302686
PMCID:
PMC1288379
AbstractArticlePDF–290K
7.
Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees
Nicholas Katsanis, Richard A. Lewis, David W. Stockton, Phuong M. T. Mai, Lisa Baird, Philip L. Beales, Mark Leppert, James R. Lupski
Am J Hum Genet. 1999 Dec; 65(6): 1672–1679. Published online 1999 Nov 18. doi: 10.1086/302684
PMCID:
PMC1288378
AbstractArticlePDF–523K
8.
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
P L Beales, A M Warner, G A Hitman, R Thakker, F A Flinter
J Med Genet. 1997 Feb; 34(2): 92–98. doi: 10.1136/jmg.34.2.92
PMCID:
PMC1050859
SummaryPage BrowsePDF–1.4M
9.
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1
Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins
Cells. 2023 Nov; 12(22): 2662. Published online 2023 Nov 20. doi: 10.3390/cells12222662
PMCID:
PMC10670506
AbstractArticlePDF–9.5M
10.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
Luke Viehl, Daniel J. Wegner, Stanley P. Hmiel, Frances V. White, Sanjay Jain, F. S. Cole, Jennifer A. Wambach
Pediatr Nephrol. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Pediatr Nephrol. 2023 Feb; 38(2): 605–609. Published online 2022 Jun 13. doi: 10.1007/s00467-022-05616-z
PMCID:
PMC9744956
AbstractArticlePDF–532K
11.
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
AbstractArticlePDF–1.8M
12.
The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells
Avishek Prasai, Marketa Schmidt Cernohorska, Klara Ruppova, Veronika Niederlova, Monika Andelova, Peter Draber, Ondrej Stepanek, Martina Huranova
J Biol Chem. 2020 Oct 16; 295(42): 14279–14290. Published online 2020 Aug 5. doi: 10.1074/jbc.RA120.013905
PMCID:
PMC7573277
AbstractArticlePDF–4.0M
13.
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
Cristina Méndez-Vidal, Nereida Bravo-Gil, María González-del Pozo, Alicia Vela-Boza, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo
BMC Genet. 2014; 15: 143. Published online 2014 Dec 14. doi: 10.1186/s12863-014-0143-2
PMCID:
PMC4271491
AbstractArticlePDF–1.0M
14.
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
AbstractArticlePDF–926K
15.
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
AbstractArticlePDF–7.7M
16.
Structural Basis for Membrane Targeting of the BBSome by ARL6
André Mourão, Andrew R. Nager, Maxence V. Nachury, Esben Lorentzen
Nat Struct Mol Biol. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: Nat Struct Mol Biol. 2014 Dec; 21(12): 1035–1041. Published online 2014 Nov 17. doi: 10.1038/nsmb.2920
PMCID:
PMC4255524
AbstractArticlePDF–1.5M
17.
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
AbstractArticlePDF–10M
18.
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
AbstractArticlePDF–1.1M
19.
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins
Rachel D. Starks, Andreas M. Beyer, Deng Fu Guo, Lauren Boland, Qihong Zhang, Val C. Sheffield, Kamal Rahmouni
PLoS Genet. 2015 Jun; 11(6): e1005311. Published online 2015 Jun 23. doi: 10.1371/journal.pgen.1005311
PMCID:
PMC4478011
AbstractArticlePDF–5.2M
20.
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)
Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro Iannaccone, Samuel G. Jacobson, Richard G. Weleber, Alan F. Wright, Ruth Riise, Raoul C. M. Hennekam, Güven Lüleci, Sibel Berker-Karauzum, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield
Am J Hum Genet. 2003 Feb; 72(2): 429–437. Published online 2003 Jan 10. doi: 10.1086/346172
PMCID:
PMC379234
AbstractArticlePDF–495K

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