PMC Links for Nucleotide (Select 959092227) - PMC

Select item 65621521.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena-Raluca Nicoli, Mary R. Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M. Zein, Peter R. Baker, II, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R. Adams, Patricia M. Zerfas, Dong Chen, Thomas C. Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu, Undiagnosed Diseases Network, Wei Zheng, Lisa J. Garrett, Cynthia J. Tifft, William A. Gahl, Debra L. Day-Salvatore, Joseph A. Mindell, May Christine V. Malicdan

Am J Hum Genet. 2019 Jun 6; 104(6): 1127–1138. Published online 2019 May 30. doi: 10.1016/j.ajhg.2019.04.008

PMCID:: PMC6562152

Abstract Article PDF–4.6M

Select item 64159062.

Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice

Mattia Capulli, Rossella Costantini, Stephan Sonntag, Antonio Maurizi, Chiara Paganini, Luca Monti, Antonella Forlino, Doron Shmerling, Anna Teti, Antonio Rossi

PLoS One. 2019; 14(3): e0213660. Published online 2019 Mar 13. doi: 10.1371/journal.pone.0213660

PMCID:: PMC6415906

Abstract Article PDF–3.0M

Select item 57521503.

Clcn7^F318L/+ as a new mouse model of Albers-Schönberg disease

J Caetano-Lopes, SG Lessard, S Hann, K Espinoza, KS Kang, KE Lim, DJ Horan, HR Noonan, D Hu, R Baron, AG Robling, ML Warman

Bone. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Bone. 2017 Dec; 105: 253–261. Published online 2017 Sep 20. doi: 10.1016/j.bone.2017.09.007

PMCID:: PMC5752150

Abstract Article PDF–1.2M

Select item 5541264.

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

Dagmar Kasper, Rosa Planells-Cases, Jens C Fuhrmann, Olaf Scheel, Oliver Zeitz, Klaus Ruether, Anja Schmitt, Mallorie Poët, Robert Steinfeld, Michaela Schweizer, Uwe Kornak, Thomas J Jentsch

EMBO J. 2005 Mar 9; 24(5): 1079–1091. Published online 2005 Feb 10. doi: 10.1038/sj.emboj.7600576

PMCID:: PMC554126

Abstract Article PDF–899K

Select item 1655115.

BayGenomics: a resource of insertional mutations in mouse embryonic stem cells

Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin

Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064

PMCID:: PMC165511

Abstract Article PDF–217K

Select item 58115186.

Identification of Chloride Channels CLCN3 and CLCN5 Mediating the Excitatory Cl⁻ Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons

Yanmei Qi, Norbert Mair, Kai K. Kummer, Michael G. Leitner, María Camprubí-Robles, Michiel Langeslag, Michaela Kress

Front Mol Neurosci. 2018; 11: 33. Published online 2018 Feb 9. doi: 10.3389/fnmol.2018.00033

PMCID:: PMC5811518

Abstract Article PDF–2.2M

Select item 54326487.

Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice

Kaifeng Yin, Jing Guo, Wenting Lin, Sarah Y. T. Robertson, Manoocher Soleimani, Michael L. Paine

Front Physiol. 2017; 8: 307. Published online 2017 May 16. doi: 10.3389/fphys.2017.00307

PMCID:: PMC5432648

Abstract Article PDF–3.1M

Select item 43907898.

Microarray Analysis Reveals Higher Gestational Folic Acid Alters Expression of Genes in the Cerebellum of Mice Offspring—A Pilot Study

Subit Barua, Salomon Kuizon, Kathryn K. Chadman, W. Ted Brown, Mohammed A. Junaid

Brain Sci. 2015 Mar; 5(1): 14–31. Published online 2015 Jan 26. doi: 10.3390/brainsci5010014

PMCID:: PMC4390789

Abstract Article PDF–266K

Select item 43707369.

Ion Channel Expression in the Developing Enteric Nervous System

Caroline S. Hirst, Jaime P. P. Foong, Lincon A. Stamp, Emily Fegan, Stephan Dent, Edward C. Cooper, Alan E. Lomax, Colin R. Anderson, Joel C. Bornstein, Heather M. Young, Sonja J. McKeown

PLoS One. 2015; 10(3): e0123436. Published online 2015 Mar 23. doi: 10.1371/journal.pone.0123436

PMCID:: PMC4370736

Abstract Article PDF–9.5M

Select item 406695710.

A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots

Xincheng Lu, Hector F. Rios, Baichun Jiang, Lianping Xing, Renata Kadlcek, Edward M. Greenfield, Guangbin Luo, Jian Q. Feng

Eur J Oral Sci. Author manuscript; available in PMC 2014 Jun 23.

Published in final edited form as: Eur J Oral Sci. 2009 Dec; 117(6): 625–635. doi: 10.1111/j.1600-0722.2009.00690.x

PMCID:: PMC4066957

Abstract Article PDF–1.4M

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