PMC Links for Gene (Select 129880) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 34

<< First< Prev

Page of 2

Select item 64388711.

Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

Saber Imani, Jingliang Cheng, Jiewen Fu, Abdolkarim Mobasher-Jannat, Chunli Wei, Saman Mohazzab-Torabi, Khosrow Jadidi, Mohammad Hossein Khosravi, Marzieh Dehghan Shasaltaneh, Lisha Yang, Md. Asaduzzaman Khan, Junjiang Fu

Biosci Rep. 2019 Mar 29; 39(3): BSR20181544. Prepublished online 2019 Mar 8. Published online 2019 Mar 29. doi: 10.1042/BSR20181544

Retraction in:: Biosci Rep. 2024 Oct 30; 44(10): BSR-2018-1544_RET.

PMCID:: PMC6438871

Abstract Article

Select item 47509682.

A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina

Susan N. Bolch, Donald R. Dugger, Timothy Chong, J. Hugh McDowell, W. Clay Smith

PLoS One. 2016; 11(2): e0148773. Published online 2016 Feb 11. doi: 10.1371/journal.pone.0148773

PMCID:: PMC4750968

Abstract Article PDF–3.1M

Select item 25788713.

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, Darryl Y Nishimura, Adebowale Adeyemo, Charles N Rotimi, Val C Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

Am J Med Genet A. 2008 Feb 15; 146A(4): 517–520. doi: 10.1002/ajmg.a.32136

PMCID:: PMC2578871

Article PDF–183K

Select item 13778104.

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

T L Young, L Penney, M O Woods, P S Parfrey, J S Green, D Hefferton, W S Davidson

Am J Hum Genet. 1999 Mar; 64(3): 900–904. doi: 10.1086/302301

PMCID:: PMC1377810

Summary PDF–604K

Select item 83554645.

A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities

Melissa R Bentley-Ford, Staci E Engle, Kelsey R Clearman, Courtney J Haycraft, Reagan S Andersen, Mandy J Croyle, Addison B Rains, Nicolas F Berbari, Bradley K Yoder

Hum Mol Genet. 2021 Feb 1; 30(3-4): 234–246. Published online 2021 Feb 9. doi: 10.1093/hmg/ddab039

PMCID:: PMC8355464

Abstract Article PDF–2.0M

Select item 78662846.

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

Abstract Article PDF–7.7M

Select item 100741187.

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 43800688.

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 41688289.

Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

Xuefeng Su, Kaitlin Driscoll, Gang Yao, Anas Raed, Maoqing Wu, Philip L. Beales, Jing Zhou

Hum Mol Genet. 2014 Oct 15; 23(20): 5441–5451. Published online 2014 Jun 16. doi: 10.1093/hmg/ddu267

PMCID:: PMC4168828

Abstract Article PDF–1.0M

Select item 764229510.

Dlec1 is required for spermatogenesis and male fertility in mice

Yu Okitsu, Mamoru Nagano, Takahiro Yamagata, Chizuru Ito, Kiyotaka Toshimori, Hideo Dohra, Wataru Fujii, Keiichiro Yogo

Sci Rep. 2020; 10: 18883. Published online 2020 Nov 3. doi: 10.1038/s41598-020-75957-y

PMCID:: PMC7642295

Abstract Article PDF–2.3M

Select item 1013303211.

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 272792812.

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 328387313.

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 337024614.

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 271595015.

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 392368316.

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 282439017.

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 754388618.

SARS-CoV-2 Disrupts Splicing, Translation, and Protein Trafficking to Suppress Host Defenses

Abhik K. Banerjee, Mario R. Blanco, Emily A. Bruce, Drew D. Honson, Linlin M. Chen, Amy Chow, Prashant Bhat, Noah Ollikainen, Sofia A. Quinodoz, Colin Loney, Jasmine Thai, Zachary D. Miller, Aaron E. Lin, Madaline M. Schmidt, Douglas G. Stewart, Daniel Goldfarb, Giuditta De Lorenzo, Suzannah J. Rihn, Rebecca M. Voorhees, Jason W. Botten, Devdoot Majumdar, Mitchell Guttman

Cell. 2020 Nov 25; 183(5): 1325–1339.e21. doi: 10.1016/j.cell.2020.10.004

PMCID:: PMC7543886

Abstract Article

Select item 108373219.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 607772220.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115