PMC Links for Gene (Select 27241) - PMC

Links from Gene

Items: 1 to 20 of 33

<< First< Prev

Page of 2

Next >Last >>

Select item 85364221.

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

Yue Zhang, Manhong Xu, Minglian Zhang, Guoxing Yang, Xiaorong Li

Biomed Res Int. 2021; 2021: 4514967. Published online 2021 Oct 15. doi: 10.1155/2021/4514967

PMCID:: PMC8536422

Abstract Article PDF–1.7M

Select item 66876442.

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Jasmin Blatterer, Ricarda Graf, Aisha Gul, Safdar Abbas, Muhammad Badar, Ansar Ahmad Abbasi, Muzammil Ahmad Khan, Christian Windpassinger

Mol Genet Genomic Med. 2019 Aug; 7(8): e834. Published online 2019 Jul 11. doi: 10.1002/mgg3.834

PMCID:: PMC6687644

Abstract Article PDF–550K

Select item 59700903.

BBS9 gene in nonsyndromic craniosynostosis: role of the primary cilium in the aberrant ossification of the suture osteogenic niche

Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A. Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon Antonov Boyadjiev, Wanda Lattanzi

Bone. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Bone. 2018 Jul; 112: 58–70. Published online 2018 Apr 17. doi: 10.1016/j.bone.2018.04.013

Correction in:: Bone. 2019 Apr; 121: 293.

PMCID:: PMC5970090

Abstract Article PDF–1.5M

Select item 47431984.

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, Christian Windpassinger

BMC Med Genet. 2016; 17: 10. Published online 2016 Feb 4. doi: 10.1186/s12881-016-0271-9

PMCID:: PMC4743198

Abstract Article PDF–623K

Select item 45281245.

Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9)

Kevin E. Knockenhauer, Thomas U. Schwartz

J Biol Chem. 2015 Aug 7; 290(32): 19569–19583. Published online 2015 Jun 17. doi: 10.1074/jbc.M115.649202

PMCID:: PMC4528124

Abstract Article PDF–7.5M

Select item 76939166.

Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance

Krzysztof Jeziorny, Karolina Antosik, Paulina Jakiel, Wojciech Młynarski, Maciej Borowiec, Agnieszka Zmysłowska

Genes (Basel) 2020 Nov; 11(11): 1283. Published online 2020 Oct 29. doi: 10.3390/genes11111283

PMCID:: PMC7693916

Abstract Article PDF–575K

Select item 44424057.

The Endoplasmic Reticulum Membrane J Protein C18 Executes a Distinct Role in Promoting Simian Virus 40 Membrane Penetration

Parikshit Bagchi, Christopher Paul Walczak, Billy Tsai

J Virol. 2015 Apr 15; 89(8): 4058–4068. Published online 2015 Jan 28. doi: 10.1128/JVI.03574-14

PMCID:: PMC4442405

Abstract Article PDF–2.4M

Select item 12851608.

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Am J Hum Genet. 2005 Dec; 77(6): 1021–1033. Published online 2005 Oct 26. doi: 10.1086/498323

PMCID:: PMC1285160

Abstract Article PDF–1.6M

Select item 68272909.

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 373632210.

A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M. Justice, Garima Yagnik, Yoonhee Kim, Inga Peter, Ethylin Wang Jabs, Monica Erazo, Xiaoqian Ye, Edmond Ainehsazan, Lisong Shi, Michael L. Cunningham, Virginia Kimonis, Tony Roscioli, Steven A. Wall, Andrew O.M. Wilkie, Joan Stoler, Joan T. Richtsmeier, Yann Heuzé, Pedro A. Sanchez-Lara, Michael F. Buckley, Charlotte M. Druschel, James L. Mills, Michele Caggana, Paul A. Romitti, Denise M. Kay, Craig Senders, Peter J. Taub, Ophir D. Klein, James Boggan, Marike Zwienenberg-Lee, Cyril Naydenov, Jinoh Kim, Alexander F. Wilson, Simeon A. Boyadjiev

Nat Genet. Author manuscript; available in PMC 2013 Aug 7.

Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1360–1364. Published online 2012 Nov 18. doi: 10.1038/ng.2463

PMCID:: PMC3736322

Abstract Article PDF–2.2M

Select item 279994011.

Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach

Minghui Wang, Meizhuo Zhang, Xiang Chen, Heping Zhang

Stat Biopharm Res. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Stat Biopharm Res. 2009 Nov 1; 1(4): 424–430. doi: 10.1198/sbr.2009.0046

PMCID:: PMC2799940

Abstract Article PDF–579K

Select item 482169412.

Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat

Yun Ju Sung, Louis Pérusse, Mark A. Sarzynski, Myriam Fornage, Steve Sidney, Barbara Sternfeld, Treva Rice, Gregg Terry, David R. Jacobs, Jr., Peter Katzmarzyk, Joanne E Curran, John Jeffrey Carr, John Blangero, Sujoy Ghosh, Jean-Pierre Després, Tuomo Rankinen, D.C. Rao, Claude Bouchard

Int J Obes (Lond) Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Int J Obes (Lond). 2016 Apr; 40(4): 662–674. Published online 2015 Oct 20. doi: 10.1038/ijo.2015.217

PMCID:: PMC4821694

Abstract Article PDF–562K

Select item 331553213.

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

Shobi Veleri, Kevin Bishop, Damian E. Dalle Nogare, Milton A. English, Trevor J. Foskett, Ajay Chitnis, Raman Sood, Paul Liu, Anand Swaroop

PLoS One. 2012; 7(3): e34389. Published online 2012 Mar 29. doi: 10.1371/journal.pone.0034389

PMCID:: PMC3315532

Abstract Article PDF–5.0M

Select item 438006814.

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 1013303215.

The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia

Swapnil Rohidas Shinde, David U. Mick, Erika Aoki, Rachel B. Rodrigues, Steven P. Gygi, Maxence V. Nachury

Dev Cell. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Dev Cell. 2023 Apr 24; 58(8): 677–693.e9. Published online 2023 Apr 4. doi: 10.1016/j.devcel.2023.03.003

PMCID:: PMC10133032

Abstract Article PDF–3.4M

Select item 385794316.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C. Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2014 Jan 1; 23(1): 40–51. Published online 2013 Aug 13. doi: 10.1093/hmg/ddt394

PMCID:: PMC3857943

Abstract Article PDF–1.7M

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 392368320.

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

Xitiz Chamling, Seongjin Seo, Charles C. Searby, GunHee Kim, Diane C. Slusarski, Val C. Sheffield

PLoS Genet. 2014 Feb; 10(2): e1004083. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004083

PMCID:: PMC3923683

Abstract Article PDF–1.6M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 33

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity