PMC Links for Nucleotide (Select 1519312667) - PMC

Select item 64327151.

BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia

Cedric R. Uytingco, Corey L. Williams, Chao Xie, Dana T. Shively, Warren W. Green, Kirill Ukhanov, Lian Zhang, Darryl Y. Nishimura, Val C. Sheffield, Jeffrey R. Martens

J Cell Sci. 2019 Mar 1; 132(5): jcs222331. Published online 2019 Feb 15. doi: 10.1242/jcs.222331

PMCID:: PMC6432715

Abstract Article

Select item 48691702.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 3849903.

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard Alan Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter J. Scambler, Philip L. Beales, James R. Lupski

Am J Hum Genet. 2002 Jul; 71(1): 22–29. Published online 2002 May 15. doi: 10.1086/341031

PMCID:: PMC384990

Abstract Article PDF–711K

Select item 36466194.

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Sabine Janssen, Gokul Ramaswami, Erica E. Davis, Toby Hurd, Rannar Airik, Jennifer M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt

Hum Genet. Author manuscript; available in PMC 2013 May 7.

Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 79–90. Published online 2010 Oct 30. doi: 10.1007/s00439-010-0902-8

PMCID:: PMC3646619

Abstract Article PDF–940K

Select item 34319275.

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

Timothy R. Stowe, Christopher J. Wilkinson, Anila Iqbal, Tim Stearns

Mol Biol Cell. 2012 Sep 1; 23(17): 3322–3335. doi: 10.1091/mbc.E12-02-0134

PMCID:: PMC3431927

Abstract Article PDF–4.1M

Select item 32503766.

Exome capture sequencing identifies a novel mutation in BBS4

Hui Wang, Xianfeng Chen, Lynn Dudinsky, Claire Patenia, Yiyun Chen, Yumei Li, Yue Wei, Emad B. Abboud, Ali A. Al-Rajhi, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Richard A. Gibbs, Brian D. Perkins, Rui Chen

Mol Vis. 2011; 17: 3529–3540. Published online 2011 Dec 30.

PMCID:: PMC3250376

Abstract Article PDF–4.6M

Select item 11537137.

Identification of regulatory targets of tissue-specific transcription factors: application to retina-specific gene regulation

Jiang Qian, Noriko Esumi, Yangjian Chen, Qingliang Wang, Itay Chowers, Donald J. Zack

Nucleic Acids Res. 2005; 33(11): 3479–3491. Published online 2005 Jun 20. doi: 10.1093/nar/gki658

Correction in:: Nucleic Acids Res. 2005; 33(12): 3953.

PMCID:: PMC1153713

Abstract Article PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity