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by Nicoli, Elena-Raluca and Weston, Mary R and Hackbarth, Mary and Becerril, Alissa and Larson, Austin and Zein, Wadih M and Baker, Peter R and Burke, John Douglas and Dorward, Heidi and Davids, Mariska and Huang, Yan and Adams, David R and Zerfas, Patricia M and Chen, Dong and Markello, Thomas C and Toro, Camilo and Wood, Tim and Elliott, Gene and Vu, Mylinh and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and ... and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1127 - 1138
Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl−/H+... 
chloroquine | lysosomal pH | lysosomal membrane counterion | lysosomal storage disease | cutaneous albinism | ClC-7 antiporter | lysosomal hyperacidity | oculocutaneous albinism | Metabolism, Inborn errors of | Usage | Diagnosis | Nucleotide sequencing | Risk factors | DNA sequencing
Journal Article
Journal Article
Cell Calcium, ISSN 0143-4160, 06/2018, Volume 72, pp. 91 - 103
Journal Article
International Journal of Oncology, ISSN 1019-6439, 03/2016, Volume 48, Issue 3, pp. 1258 - 1270
Ameloblastoma is the most common benign odontogenic tumor in Japan. It is believed that it expands in the jaw bone through peritumoral activation of... 
Ameloblastoma | RANKL | Demineralization | CLC-7 | Vacuolar ATPase | SYSTEM | PROTON PUMPS | PROTEIN | demineralization | B LIGAND RANKL | A3 ISOFORM | vacuolar ATPase | ONCOLOGY | ameloblastoma | H+-ATPASE | OSTEOCLAST DIFFERENTIATION | EXPRESSION | MMP-9 | CELL-LINE
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2006, Volume 103, Issue 37, pp. 13854 - 13859
Mammalian CLC proteins function as Cl⁻ channels or as electrogenic exchangers and are present in the plasma membrane and intracellular vesicles. We now show... 
Axons | Brain | Nervous system diseases | Neurons | Lysosomes | Lysosomal storage diseases | Mice | Cell membranes | Genetic mutation | Endosomes | INTRACELLULAR LOCATION | channelopathy | MULTIDISCIPLINARY SCIENCES | MOUSE | acidification | MODEL | anion transport | Kufs' disease | CBS DOMAINS | CHANNEL | CLC-7 | LEADS | DENTS-DISEASE | MOLECULAR-BASIS | Batten disease | CEROID-LIPOFUSCINOSIS
Journal Article
BONE RESEARCH, ISSN 2095-4700, 06/2019, Volume 7, Issue 1, pp. 17 - 15
Autosomal dominant osteopetrosis type 2 (ADO2) is a high-density brittle bone disease characterized by bone pain, multiple fractures and skeletal-related... 
THIOFLAVIN-T | ALBERS-SCHONBERG-DISEASE | ACTIVATION | TGF-BETA | OSTEOCLASTS | MACROPHAGES | CLC-7 | PHENOTYPES | PATHOLOGY | REQUIRES OSTM1 | CELL & TISSUE ENGINEERING | Acidification | Genotype & phenotype | Fractures | Mutation | Bone diseases | Hematology
Journal Article