PMC Links for Gene (Select 55212) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 36

<< First< Prev

Page of 2

Select item 87438971.

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model

Tomas S. Aleman, Erin C. O’Neil, Keli O’Connor, Yu You Jiang, Isabella A. Aleman, Jean Bennett, Jessica I. W. Morgan, Brian W. Toussaint

Ophthalmic Genet. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2021 Jun; 42(3): 252–265. Published online 2021 Mar 17. doi: 10.1080/13816810.2021.1888132

PMCID:: PMC8743897

Abstract Article PDF–4.3M

Select item 42729592.

Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

Seok Joon Shin, Myungshin Kim, Hyojin Chae, Ahlm Kwon, Yonggoo Kim, Sung Jun Kim, Hye Eun Yoon, Dong Wook Jekarl, Seungok Lee

Ann Lab Med. 2015 Jan; 35(1): 181–184. Published online 2014 Dec 8. doi: 10.3343/alm.2015.35.1.181

PMCID:: PMC4272959

Article PDF–426K

Select item 26031853.

A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family

Zhenglin Yang, Yang Yang, Peiquan Zhao, Kechun Chen, Bin Chen, Ying Lin, Fuqiang Guo, Yigong Chen, Xiaoqi Liu, Fang Lu, Yi Shi, Dingding Zhang, Shihuang Liao, Qingyou Xia

Mol Vis. 2008; 14: 2304–2308. Published online 2008 Dec 12.

PMCID:: PMC2603185

Abstract Article PDF–4.5M

Select item 36794844.

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

Qihong Zhang, Darryl Nishimura, Tim Vogel, Jianqiang Shao, Ruth Swiderski, Terry Yin, Charles Searby, Calvin S. Carter, GunHee Kim, Kevin Bugge, Edwin M. Stone, Val C. Sheffield

J Cell Sci. 2013 Jun 1; 126(11): 2372–2380. doi: 10.1242/jcs.111740

PMCID:: PMC3679484

Abstract Article

Select item 98585335.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana

Genes (Basel) 2023 Jan; 14(1): 84. Published online 2022 Dec 27. doi: 10.3390/genes14010084

PMCID:: PMC9858533

Abstract Article PDF–2.0M

Select item 68272906.

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 55244337.

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

Abstract Article PDF–4.1M

Select item 50276758.

Expansion of phenotype and genotypic data in CRB2-related syndrome

Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, Jillian S Parboosingh, Dina Schneidman-Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie DeWard, Anne Fulton, Kathryn J Gray, Max Krall, Lakshmi Mehta, Lance H Rodan, Devereux N Saller, Jr, Deanna Steele, Deborah Stein, Svetlana A Yatsenko, François P Bernier, Anne M Slavotinek

Eur J Hum Genet. 2016 Oct; 24(10): 1436–1444. Published online 2016 Mar 23. doi: 10.1038/ejhg.2016.24

PMCID:: PMC5027675

Abstract Article PDF–541K

Select item 11802409.

Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

José L. Badano, Stephen J. Ansley, Carmen C. Leitch, Richard Alan Lewis, James R. Lupski, Nicholas Katsanis

Am J Hum Genet. 2003 Mar; 72(3): 650–658. Published online 2003 Feb 3. doi: 10.1086/368204

PMCID:: PMC1180240

Abstract Article PDF–1.0M

Select item 1007411810.

Ubiquitylation of BBSome is required for ciliary assembly and signaling

Francesco Chiuso, Rossella delle Donne, Giuliana Giamundo, Laura Rinaldi, Domenica Borzacchiello, Federica Moraca, Daniela Intartaglia, Rosa Iannucci, Emanuela Senatore, Luca Lignitto, Corrado Garbi, Paolo Conflitti, Bruno Catalanotti, Ivan Conte, Antonio Feliciello

EMBO Rep. 2023 Apr; 24(4): e55571. Published online 2023 Feb 6. doi: 10.15252/embr.202255571

PMCID:: PMC10074118

Abstract Article PDF–6.3M

Select item 438006811.

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 289873512.

The conserved Bardet-Biedl Syndrome proteins assemble a coat that traffics membrane proteins to cilia

Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, Maxence V. Nachury

Cell. Author manuscript; available in PMC 2011 Jun 25.

Published in final edited form as: Cell. 2010 Jun 25; 141(7): 1208–1219. doi: 10.1016/j.cell.2010.05.015

PMCID:: PMC2898735

Abstract Article PDF–2.1M

Select item 272792813.

PCM1 is recruited to the centrosome by the cooperative action of DISC1 and BBS4 and is a candidate for psychiatric illness

Atsushi Kamiya, Perciliz L. Tan, Ken-ichiro Kubo, Caitlin Engelhard, Koko Ishizuka, Akiharu Kubo, Sachiko Tsukita, Ann E. Pulver, Kazunori Nakajima, Nicola G. Cascella, Nicholas Katsanis, Akira Sawa

Arch Gen Psychiatry. Author manuscript; available in PMC 2009 Aug 17.

Published in final edited form as: Arch Gen Psychiatry. 2008 Sep; 65(9): 996–1006. doi: 10.1001/archpsyc.65.9.996

PMCID:: PMC2727928

Abstract Article PDF–3.5M

Select item 328387314.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano

J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375

PMCID:: PMC3283873

Abstract Article

Select item 320791015.

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 337024616.

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 271595017.

Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup'ik Eskimo Populations

Wendy K. Chung, Amit Patki, Naoki Matsuoka, Bert B. Boyer, Nianjun Liu, Solomon K. Musani, Anna V. Goropashnaya, Perciliz L. Tan, Nicholas Katsanis, Stephen B. Johnson, Peter K. Gregersen, David B. Allison, Rudolph L. Leibel, Hemant K. Tiwari

Hum Hered. 2009 Feb; 67(3): 193–205. Published online 2008 Dec 15. doi: 10.1159/000181158

PMCID:: PMC2715950

Abstract Article PDF–636K

Select item 392368318.

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

Select item 282439019.

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 282753820.

A Comprehensive Resource of Interacting Protein Regions for Refining Human Transcription Factor Networks

Etsuko Miyamoto-Sato, Shigeo Fujimori, Masamichi Ishizaka, Naoya Hirai, Kazuyo Masuoka, Rintaro Saito, Yosuke Ozawa, Katsuya Hino, Takanori Washio, Masaru Tomita, Tatsuhiro Yamashita, Tomohiro Oshikubo, Hidetoshi Akasaka, Jun Sugiyama, Yasuo Matsumoto, Hiroshi Yanagawa

PLoS One. 2010; 5(2): e9289. Published online 2010 Feb 24. doi: 10.1371/journal.pone.0009289

PMCID:: PMC2827538

Abstract Article PDF–676K

<< First< Prev

Page of 2

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Links for Gene (Select 55212) (36)
PMC
rapamycin-insensitive companion of mTOR isoform X4 [Homo sapiens]
rapamycin-insensitive companion of mTOR isoform X4 [Homo sapiens]
gi|2217355436|ref|XP_047273024.1|

Protein
rapamycin-insensitive companion of mTOR isoform X2 [Homo sapiens]
rapamycin-insensitive companion of mTOR isoform X2 [Homo sapiens]
gi|767934340|ref|XP_011512307.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: