PMC Links for Nucleotide (Select 1677501558) - PMC

Select item 62187571.

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan, Moara Lemos, Sebastian Hutchinson, James A. Poulter, Laura A. Crinnion, Ian Berry, Jennifer Simmonds, Pradeep Vasudevan, Chris O’Callaghan, Robert A. Hirst, Andrew Rutman, Lijia Huang, Taila Hartley, David Grynspan, Eduardo Moya, Chunmei Li, Ian M. Carr, David T. Bonthron, Michel Leroux, Care4Rare Canada Consortium, Kym M. Boycott, Philippe Bastin, Eamonn G. Sheridan

Am J Hum Genet. 2018 Nov 1; 103(5): 727–739. Published online 2018 Nov 1. doi: 10.1016/j.ajhg.2018.10.003

PMCID:: PMC6218757

Abstract Article PDF–2.1M

Select item 61507742.

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Anil Chekuri, Aditya A. Guru, Pooja Biswas, Kari Branham, Shyamanga Borooah, Angel Soto-Hermida, Michael Hicks, Naheed W. Khan, Hiroko Matsui, Akhila Alapati, Pongali B Raghavendra, Susanne Roosing, Sripriya Srivatsan, Sinnakaruppan Mathavan, Amalio Telenti, John R. Heckenlively, S. Amer Riazuddin, Kelly A. Frazer, Paul A. Sieving, Radha Ayyagari

Hum Genet. Author manuscript; available in PMC 2019 Jul 5.

Published in final edited form as: Hum Genet. 2018 Jul; 137(6-7): 447–458. Published online 2018 Jul 5. doi: 10.1007/s00439-018-1897-9

PMCID:: PMC6150774

Abstract Article PDF–496K

Select item 60507143.

Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening

Rueyhung Roc Weng, T. Tony Yang, Chia-En Huang, Chih-Wei Chang, Won-Jing Wang, Jung-Chi Liao

Biophys J. 2018 Jul 17; 115(2): 263–275. Published online 2018 Jun 1. doi: 10.1016/j.bpj.2018.04.051

PMCID:: PMC6050714

Abstract Article PDF–5.7M

Select item 58658034.

Basic fibroblast growth factor increases IFT88 expression in chondrocytes

Daolu Zhan, Wei Xiang, Fengjing Guo, Yuanzheng Ma

Mol Med Rep. 2017 Nov; 16(5): 6590–6599. Published online 2017 Sep 8. doi: 10.3892/mmr.2017.7449

PMCID:: PMC5865803

Abstract Article PDF–2.4M

Select item 12494795.

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

Hemant Khanna, Toby W. Hurd, Concepcion Lillo, Xinhua Shu, Sunil K. Parapuram, Shirley He, Masayuki Akimoto, Alan F. Wright, Ben Margolis, David S. Williams, Anand Swaroop

J Biol Chem. Author manuscript; available in PMC 2005 Oct 7.

Published in final edited form as: J Biol Chem. 2005 Sep 30; 280(39): 33580–33587. Published online 2005 Jul 25. doi: 10.1074/jbc.M505827200

PMCID:: PMC1249479

Abstract Article PDF–1.3M

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