Zobrazeno 1 - 10
of 20
pro vyhledávání: '"UQCRFS1"'
Autor:
Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Publikováno v:
Rare, Vol 2, Iss , Pp 100040- (2024)
Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a partic
Externí odkaz:
https://doaj.org/article/93c294e07b004efca6d7414223356227
Publikováno v:
Cell Cycle. 17:681-687
Regulation of the mitochondrial respiratory chain biogenesis is a matter of great interest because of its implications for mitochondrial disease. One of the mitochondrial disease genes recently discovered associated to encephalopathy and mitochondria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1171a395fbe8323d30e87748eae0b19
https://doi.org/10.1080/15384101.2017.1417707
https://doi.org/10.1080/15384101.2017.1417707
Autor:
Bottani, Emanuela, Cerutti, Raffaele, Harbour, Michael E, Ravaglia, Sabrina, Dogan, Sukru Anil, Giordano, Carla, Fearnley, Ian M, D'Amati, Giulia, Viscomi, Carlo, Fernandez-Vizarra, Erika, Zeviani, Massimo
Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. We previously demonstrated the mitochondrial localization o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1697ea06cae901e2d5a254f0405fa6
Autor:
Raffaele Cerutti, Carla Giordano, Sabrina Ravaglia, Giulia d'Amati, Erika Fernandez-Vizarra, Massimo Zeviani, Carlo Viscomi, Sukru Anil Dogan, Ian M. Fearnley, Michael E. Harbour, Emanuela Bottani
Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. We previously demonstrated the mitochondrial localization o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0126252c0feaee3a529363b23188c
http://hdl.handle.net/11577/3458980
http://hdl.handle.net/11577/3458980
Autor:
Doris Schmidt, Nadja Ellinger, Stefan C. Müller, Yuri Tolkach, Arabella Gromes, Glen Kristiansen, Jörg Ellinger, Maria Brüggemann, Mirjam Poss, Dimo Dietrich
Publikováno v:
Oncotarget
// Jorg Ellinger 1 , Arabella Gromes 1 , Mirjam Poss 1 , Maria Bruggemann 1 , Doris Schmidt 1 , Nadja Ellinger 2 , Yuri Tolkach 3 , Dimo Dietrich 3, 4 , Glen Kristiansen 3 , Stefan C. Muller 1 1 University Hospital Bonn, Department of Urology, 53105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538fabbad9dcb271da509f6fb747eaf8
https://doi.org/10.1016/s1569-9056(17)31035-7
https://doi.org/10.1016/s1569-9056(17)31035-7
Publikováno v:
Journal of Gastric Cancer
Purpose: The specific aim of this study is to unravel a DNA copy number alterations, and to search for novel genes that are associated with the development of Korean gastric cancer. Materials and Methods: We investigated a DNA copy number changes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f53ccb4741c8954ba4f02b39fd86d9
https://pubmed.ncbi.nlm.nih.gov/22792519
https://pubmed.ncbi.nlm.nih.gov/22792519
Akademický článek
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Publikováno v:
Gynecologic oncology. 93(1)
Objective. The ubiquinol cytochrome c reductase UQCRFS1 is a key subunit of the cytochrome bc1 complex (complex III) of the mitochondrial respiratory chain. The purpose of this study is to evaluate the significance of the ubiquinol cytochrome c reduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e2f1d0b1b8cffdcdf996684ed7b159
https://pubmed.ncbi.nlm.nih.gov/15047214
https://pubmed.ncbi.nlm.nih.gov/15047214
Akademický článek
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Akademický článek
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