Full text in PMC (nucleotide) for Gene (Select 320634) - 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

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

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

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

Article PDF–1.3M

Select item 29741985.

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

Article PDF–546K

Select item 28684116.

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

Article PDF–800K

Select item 5087927.

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 4202398.

Identification of "pathologs" (disease-related genes) from the RIKEN mouse cDNA dataset using human curation plus FACTS, a new biological information extraction system

Diego G Silva, Christian Schönbach, Vladimir Brusic, Luis A Socha, Takeshi Nagashima, Nikolai Petrovsky

BMC Genomics. 2004; 5: 28. Published online 2004 Apr 29. doi: 10.1186/1471-2164-5-28

PMCID:: PMC420239

Article PDF–415K

Select item 3109929.

RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer

Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki

Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600

PMCID:: PMC310992

Article PDF–3.4M

Select item 31098010.

Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes

Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki

Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100

PMCID:: PMC310980

Article PDF–1.4M

Select item 13924111.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

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