PMC Links for Nucleotide (Select 46195806) - PMC

Select item 65482261.

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

Beatrice Paola Festa, Marine Berquez, Alkaly Gassama, Irmgard Amrein, Hesham M Ismail, Marijana Samardzija, Leopoldo Staiano, Alessandro Luciani, Christian Grimm, Robert L Nussbaum, Maria Antonietta De Matteis, Olivier M Dorchies, Leonardo Scapozza, David Paul Wolfer, Olivier Devuyst

Hum Mol Genet. 2019 Jun 15; 28(12): 1931–1946. Published online 2018 Dec 26. doi: 10.1093/hmg/ddy449

PMCID:: PMC6548226

Abstract Article PDF–48M

Select item 56878862.

ESRP1 mutations cause hearing loss due to defects in alternative splicing that disrupt cochlear development

Alex M. Rohacek, Thomas W. Bebee, Richard K. Tilton, Caleb M. Radens, Chris McDermott-Roe, Natoya Peart, Maninder Kaur, Michael Zaykaner, Benjamin Cieply, Kiran Musunuru, Yoseph Barash, John A. Germiller, Ian D. Krantz, Russ P. Carstens, Douglas J. Epstein

Dev Cell. Author manuscript; available in PMC 2018 Nov 6.

Published in final edited form as: Dev Cell. 2017 Nov 6; 43(3): 318–331.e5. Published online 2017 Oct 26. doi: 10.1016/j.devcel.2017.09.026

PMCID:: PMC5687886

Abstract Article PDF–2.4M

Select item 54077333.

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy

Kazunori Inoue, Daniel M. Balkin, Lijuan Liu, Ramiro Nandez, Yumei Wu, Xuefei Tian, Tong Wang, Robert Nussbaum, Pietro De Camilli, Shuta Ishibe

J Am Soc Nephrol. 2017 May; 28(5): 1399–1407. Published online 2016 Nov 28. doi: 10.1681/ASN.2016080913

PMCID:: PMC5407733

Abstract Article

Select item 41567484.

Primary cilia signaling mediates intraocular pressure sensation

Na Luo, Michael D. Conwell, Xingjuan Chen, Christine Insinna Kettenhofen, Christopher J. Westlake, Louis B. Cantor, Clark D. Wells, Robert N. Weinreb, Timothy W. Corson, Dan F. Spandau, Karen M. Joos, Carlo Iomini, Alexander G. Obukhov, Yang Sun

Proc Natl Acad Sci U S A. 2014 Sep 2; 111(35): 12871–12876. Published online 2014 Aug 20. doi: 10.1073/pnas.1323292111

PMCID:: PMC4156748

Abstract Article PDF–1.3M

Select item 5087925.

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

P A Jänne, S F Suchy, D Bernard, M MacDonald, J Crawley, A Grinberg, A Wynshaw-Boris, H Westphal, R L Nussbaum

J Clin Invest. 1998 May 15; 101(10): 2042–2053. doi: 10.1172/JCI2414

PMCID:: PMC508792

Summary PDF–397K

Select item 29741986.

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

Susan P. Bothwell, Leslie W. Farber, Adam Hoagland, Robert L. Nussbaum

Mamm Genome. 2010; 21(9): 458–466. Published online 2010 Sep 26. doi: 10.1007/s00335-010-9281-7

PMCID:: PMC2974198

Abstract Article PDF–546K

Select item 28684117.

Gene Expression Changes in Areas of Focal Loss of Retinal Ganglion Cells in the Retina of DBA/2J Mice

Lampros Panagis, Xiujun Zhao, Yongchao Ge, Lizhen Ren, Thomas W. Mittag, John Danias

Invest Ophthalmol Vis Sci. 2010 Apr; 51(4): 2024–2034. doi: 10.1167/iovs.09-3560

PMCID:: PMC2868411

Abstract Article PDF–800K

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