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Select item 86696131.

SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase

Won Young Choi, Seongok Kim, Philipp Aurass, Wenwen Huo, Elizabeth A. Creasey, Marc Edwards, Martin Lowe, Ralph R. Isberg

Cell Rep. Author manuscript; available in PMC 2021 Dec 14.

Published in final edited form as: Cell Rep. 2021 Nov 2; 37(5): 109894. doi: 10.1016/j.celrep.2021.109894

PMCID:: PMC8669613

Abstract Article PDF–1.8M

Select item 84064012.

OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP‐mediated microtubule anchoring

Biao Wang, Wei He, Philipp P Prosseda, Liang Li, Tia J Kowal, Jorge A Alvarado, Qing Wang, Yang Hu, Yang Sun

EMBO Rep. 2021 Jul 5; 22(7): e52173. Published online 2021 May 13. doi: 10.15252/embr.202052173

PMCID:: PMC8406401

Abstract Article PDF–3.1M

Select item 79387703.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 74986794.

An Alternative Splicing Program for Mouse Craniofacial Development

Joan E. Hooper, Kenneth L. Jones, Francis J. Smith, Trevor Williams, Hong Li

Front Physiol. 2020; 11: 1099. Published online 2020 Sep 4. doi: 10.3389/fphys.2020.01099

PMCID:: PMC7498679

Abstract Article PDF–4.5M

Select item 65482265.

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 56878866.

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 54077337.

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 41567488.

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 37539089.

Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes

Anne-Valerie Gendrel, Y. Amy Tang, Masako Suzuki, Jonathan Godwin, Tatyana B. Nesterova, John M. Greally, Edith Heard, Neil Brockdorff

Mol Cell Biol. 2013 Aug; 33(16): 3150–3165. doi: 10.1128/MCB.00145-13

PMCID:: PMC3753908

Abstract Article PDF–3.9M

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 306043811.

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

Susan P. Bothwell, Emily Chan, Isa M. Bernardini, Yien-Ming Kuo, William A. Gahl, Robert L. Nussbaum

J Am Soc Nephrol. 2011 Mar; 22(3): 443–448. doi: 10.1681/ASN.2010050565

PMCID:: PMC3060438

Abstract Article

Select item 302253412.

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio

PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582

PMCID:: PMC3022534

Abstract Article PDF–3.8M

Select item 293789813.

Phosphatidylinositol-4-Phosphate 5-Kinases and Phosphatidylinositol 4,5-Bisphosphate Synthesis in the Brain

Laura A. Volpicelli-Daley, Louise Lucast, Liang-Wei Gong, Lijuan Liu, Junko Sasaki, Takehiko Sasaki, Charles S. Abrams, Yasunori Kanaho, Pietro De Camilli

J Biol Chem. 2010 Sep 10; 285(37): 28708–28714. Published online 2010 Jul 9. doi: 10.1074/jbc.M110.132191

PMCID:: PMC2937898

Abstract Article PDF–1.1M

Select item 284497014.

X-inactivation analysis of embryonic lethality in Ocrl^wt/−;Inpp5b^−/− mice

David J. Bernard, Robert L. Nussbaum

Mamm Genome. 2010; 21(3): 186–194. Published online 2010 Feb 27. doi: 10.1007/s00335-010-9255-9

PMCID:: PMC2844970

Abstract Article PDF–319K

Select item 272898115.

Embryonic arrest at midgestation and disruption of Notch signaling produced by the absence of both epsin 1 and epsin 2 in mice

Hong Chen, Genevieve Ko, Alessandra Zatti, Giuseppina Di Giacomo, Lijuan Liu, Elisabetta Raiteri, Ezio Perucco, Chiara Collesi, Wang Min, Caroline Zeiss, Pietro De Camilli, Ottavio Cremona

Proc Natl Acad Sci U S A. 2009 Aug 18; 106(33): 13838–13843. Published online 2009 Aug 5. doi: 10.1073/pnas.0907008106

PMCID:: PMC2728981

Abstract Article PDF–1.2M

Select item 50879216.

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 31099217.

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

Abstract Article PDF–3.4M

Select item 31098018.

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

Abstract Article PDF–1.4M

Select item 30876319.

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

Axel Visel, Christina Thaller, Gregor Eichele

Nucleic Acids Res. 2004 Jan 1; 32(Database issue): D552–D556. doi: 10.1093/nar/gkh029

PMCID:: PMC308763

Abstract Article PDF–253K

Select item 28355420.

Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention

Brian P. Zambrowicz, Alejandro Abuin, Ramiro Ramirez-Solis, Lizabeth J. Richter, James Piggott, Hector BeltrandelRio, Eric C. Buxton, Joel Edwards, Rick A. Finch, Carl J. Friddle, Anupma Gupta, Gwenn Hansen, Yi Hu, Wenhu Huang, Crystal Jaing, Billie Wayne Key, Jr., Peter Kipp, Buckley Kohlhauff, Zhi-Qing Ma, Diane Markesich, Robert Payne, David G. Potter, Ny Qian, Joseph Shaw, Jeff Schrick, Zheng-Zheng Shi, Mary Jean Sparks, Isaac Van Sligtenhorst, Peter Vogel, Wade Walke, Nianhua Xu, Qichao Zhu, Christophe Person, Arthur T. Sands

Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14109–14114. Published online 2003 Nov 10. doi: 10.1073/pnas.2336103100

Correction in:: Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4332.

PMCID:: PMC283554

Abstract Article PDF–481K

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