PMC Links for Gene (Select 140475) - PMC

Select item 69695321.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Simon A. Ramsbottom, Peter E. Thelwall, Katrina M. Wood, Gavin J. Clowry, Laura A. Devlin, Flora Silbermann, Helena L. Spiewak, Shirlee Shril, Elisa Molinari, Friedhelm Hildebrandt, Meral Gunay-Aygun, Sophie Saunier, Heather J. Cordell, John A. Sayer, Colin G. Miles

Proc Natl Acad Sci U S A. 2020 Jan 14; 117(2): 1113–1118. Published online 2019 Dec 26. doi: 10.1073/pnas.1912602117

PMCID:: PMC6969532

Abstract Article PDF–1.8M

Select item 57891542.

Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney

Naohiro Nomura, Wakana Shoda, Yuanlong Wang, Shintaro Mandai, Taisuke Furusho, Daiei Takahashi, Moko Zeniya, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida

Biosci Rep. 2018 Feb 28; 38(1): BSR20171243. Prepublished online 2018 Jan 11. Published online 2018 Jan 30. doi: 10.1042/BSR20171243

PMCID:: PMC5789154

Abstract Article PDF–984K

Select item 25807833.

Endocochlear potential depends on Cl⁻ channels: mechanism underlying deafness in Bartter syndrome IV

Gesa Rickheit, Hannes Maier, Nicola Strenzke, Corina E Andreescu, Chris I De Zeeuw, Adrian Muenscher, Anselm A Zdebik, Thomas J Jentsch

EMBO J. 2008 Nov 5; 27(21): 2907–2917. Published online 2008 Oct 2. doi: 10.1038/emboj.2008.203

PMCID:: PMC2580783

Abstract Article PDF–1.7M

Select item 85649134.

Impairment in renal medulla development underlies salt wasting in Clc-k2 channel deficiency

Meng-Hsuan Lin, Jen-Chi Chen, Xuejiao Tian, Chia-Ming Lee, I-Shing Yu, Yi-Fen Lo, Shinichi Uchida, Chou-Long Huang, Bi-Chang Chen, Chih-Jen Cheng

JCI Insight. 2021 Oct 22; 6(20): e151039. Published online 2021 Oct 22. doi: 10.1172/jci.insight.151039

PMCID:: PMC8564913

Abstract Article PDF–6.6M

Select item 25807395.

Hoxd11 specifies a program of metanephric kidney development within the intermediate mesoderm of the mouse embryo

Joshua W. Mugford, Petra Sipilä, Akio Kobayashi, Richard R. Behringer, Andrew P. McMahon

Dev Biol. Author manuscript; available in PMC 2009 Jul 15.

Published in final edited form as: Dev Biol. 2008 Jul 15; 319(2): 396–405. Published online 2008 Apr 11. doi: 10.1016/j.ydbio.2008.03.044

PMCID:: PMC2580739

Abstract Article PDF–3.8M

Select item 56347876.

Molecular architecture underlying fluid absorption by the developing inner ear

Keiji Honda, Sung Huhn Kim, Michael C Kelly, Joseph C Burns, Laura Constance, Xiangming Li, Fei Zhou, Michael Hoa, Matthew W Kelley, Philine Wangemann, Robert J Morell, Andrew J Griffith

eLife. 2017; 6: e26851. Published online 2017 Oct 10. doi: 10.7554/eLife.26851

PMCID:: PMC5634787

Abstract Article PDF–6.3M

Select item 32146227.

Dicer regulates the development of nephrogenic and ureteric compartments in the mammalian kidney

Vidya K. Nagalakshmi, Qun Ren, Margaret M. Pugh, M. Todd Valerius, Andrew P. McMahon, Jing Yu

Kidney Int. Author manuscript; available in PMC 2011 Nov 13.

Published in final edited form as: Kidney Int. 2011 Feb; 79(3): 317–330. Published online 2010 Oct 13. doi: 10.1038/ki.2010.385

PMCID:: PMC3214622

Abstract Article PDF–5.0M

Select item 41646918.

Resistance to Noise-Induced Hearing Loss in 129S6 and MOLF Mice: Identification of Independent, Overlapping, and Interacting Chromosomal Regions

Valerie A. Street, Sharon G. Kujawa, Ani Manichaikul, Karl W. Broman, Jeremy C. Kallman, Dustin J. Shilling, Ayaka J. Iwata, Linda C. Robinson, Carol A. Robbins, Jin Li, M. Charles Liberman, Bruce L Tempel

J Assoc Res Otolaryngol. 2014 Oct; 15(5): 721–738. Published online 2014 Jun 21. doi: 10.1007/s10162-014-0472-x

PMCID:: PMC4164691

Abstract Article PDF–2.8M

Select item 56878869.

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 263408510.

The European Renal Genome Project: An Integrated Approach Towards Understanding the Genetics of Kidney Development and Disease

TE Willnow, C Antignac, AW Brändli, EI Christensen, RD Cox, D Davidson, JA Davies, O Devuyst, G Eichele, ND Hastie, PJ Verroust, A Schedl, IC Meij

Organogenesis. 2005 Apr-Jun; 2(2): 42–47. doi: 10.4161/org.2.2.2118

PMCID:: PMC2634085

Abstract Article PDF–629K

Select item 141356811.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 357241012.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 302253413.

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 52892814.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 31099215.

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 31098016.

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 13924117.

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

Abstract Article PDF–118K

Select item 317805918.

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

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