PMC Links for Protein (Select 959092872) - 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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity