المؤلفون: 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

المصدر: Rare, Vol 2, Iss , Pp 100040- (2024)

مصطلحات موضوعية: UQCRFS1, GJA8, mitochondrial complex III, alopecia, cataracts, rare disease, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2950008724000231; https://doaj.org/toc/2950-0087

URL الوصول: https://doaj.org/article/93c294e07b004efca6d7414223356227

المؤلفون: 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

المساهمون: 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

مصطلحات موضوعية: Rieske protein, TTC19, UQCRFS1, complex III deficiency, mitochondrial complex III, mitochondrial disease, mitochondrial quality control, mitochondrial respiratory chain, mouse model

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28673544; info:eu-repo/semantics/altIdentifier/wos/WOS:000404897300010; volume:67; issue:1; firstpage:96; lastpage:105; numberofpages:10; journal:MOLECULAR CELL; http://hdl.handle.net/11562/1030665; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021312011; https://www.sciencedirect.com/science/article/pii/S1097276517304033

الاتاحة: http://hdl.handle.net/11562/1030665
https://doi.org/10.1016/j.molcel.2017.06.001
https://www.sciencedirect.com/science/article/pii/S1097276517304033

المؤلفون: Fernandez-Vizarra, Erika, Zeviani, Massimo

المساهمون: Fernandez-Vizarra, Erika [0000-0002-2469-142X], Zeviani, Massimo [0000-0002-9067-5508], Apollo - University of Cambridge Repository

المصدر: Cell Cycle. 17:681-687

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial respiratory chain, Protein Structure, OXPHOS, mitochondrial complex III, Rieske Fe-S protein, UQCRFS1, TTC19, mitochondrial disease, mitochondria, Animals, Cattle, Chickens, Electron Transport Complex III, Membrane Proteins, Mice, Mice, Knockout, Mitochondria, Mitochondrial Proteins, Protein Binding, Protein Structure, Quaternary, Protein Subunits, Knockout, Mitochondrial disease, Protein subunit, Oxidative phosphorylation, Biology, Mitochondrion, Quaternary, 03 medical and health sciences, medicine, Molecular Biology, Gene, Extra View, Cell Biology, medicine.disease, Cell biology, 030104 developmental biology, lipids (amino acids, peptides, and proteins), Function (biology), Biogenesis, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1171a395fbe8323d30e87748eae0b19
https://doi.org/10.1080/15384101.2017.1417707

المؤلفون: 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

المساهمون: Viscomi, Carlo [0000-0001-6050-0566], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Iron-Sulfur Proteins, Male, Mitochondrial Diseases, Genotype, mouse model, mitochondrial respiratory chain, Motor Activity, Nervous System, Mitochondrial Proteins, Electron Transport Complex III, Rieske protein, Animals, Humans, complex III deficiency, Mice, Knockout, UQCRFS1, Behavior, Animal, mitochondrial quality control, Protein Stability, Membrane Proteins, Mitochondria, Mice, Inbred C57BL, mitochondrial disease, Disease Models, Animal, Kinetics, mitochondrial complex III, Phenotype, Nerve Degeneration, Proteolysis, TTC19, Female, Reactive Oxygen Species, HeLa Cells, Protein Binding

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1697ea06cae901e2d5a254f0405fa6

المؤلفون: 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

مصطلحات موضوعية: 0301 basic medicine, Iron-Sulfur Proteins, Male, Mitochondrial Diseases, Dimer, Inbred C57BL, Nervous System, chemistry.chemical_compound, Electron Transport Complex III, Mice, complex III deficiency, mitochondrial complex III, mitochondrial disease, mitochondrial quality control, mitochondrial respiratory chain, mouse model, Rieske protein, TTC19, UQCRFS1, Animals, Behavior, Animal, Disease Models, Animal, Female, Genotype, HeLa Cells, Humans, Kinetics, Membrane Proteins, Mice, Inbred C57BL, Mice, Knockout, Mitochondria, Mitochondrial Proteins, Motor Activity, Nerve Degeneration, Phenotype, Protein Binding, Protein Stability, Proteolysis, Reactive Oxygen Species, Respiratory system, chemistry.chemical_classification, biology, Biochemistry, Knockout, 03 medical and health sciences, Molecular Biology, Reactive oxygen species, Behavior, Animal, Cell Biology, Mitochondrial respiratory chain complex III, 030104 developmental biology, chemistry, Coenzyme Q – cytochrome c reductase, Disease Models, biology.protein, rieske protein, Biogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0126252c0feaee3a529363b23188c
http://hdl.handle.net/11577/3458980

المؤلفون: Doris Schmidt, Nadja Ellinger, Stefan C. Müller, Yuri Tolkach, Arabella Gromes, Glen Kristiansen, Jörg Ellinger, Maria Brüggemann, Mirjam Poss, Dimo Dietrich

المصدر: Oncotarget

مصطلحات موضوعية: Iron-Sulfur Proteins, Male, 0301 basic medicine, Pathology, Microarray, Chromophobe cell, medicine.disease_cause, Electron Transport Complex III, 0302 clinical medicine, Renal cell carcinoma, Gene expression, Expression analysis, Medicine, Aged, 80 and over, Middle Aged, Kidney Neoplasms, Gene Expression Regulation, Neoplastic, Oncology, 030220 oncology & carcinogenesis, DNA methylation, biomarker, Biomarker (medicine), Female, Research Paper, Adult, medicine.medical_specialty, renal cell carcinoma, Urology, Mitochondrial complex III, Biology, 03 medical and health sciences, Intensive care, Biomarkers, Tumor, Humans, RNA, Messenger, UQCRC1, Carcinoma, Renal Cell, Aged, UQCRFS1, business.industry, DNA Methylation, medicine.disease, Molecular biology, Protein Subunits, Clear cell renal cell carcinoma, mitochondrial complex III, 030104 developmental biology, Cancer research, Carcinogenesis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538fabbad9dcb271da509f6fb747eaf8
https://doi.org/10.1016/s1569-9056(17)31035-7

المؤلفون: Su Young Kim, Jung Hwan Yoon, Kyong Hwa Jun, Won Sang Park, Jae Hwi Song

المصدر: Journal of Gastric Cancer

مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Overexpression, UQCRFS1 gene, Stomach neoplasms, Amplification, Biology, law.invention, Novel gene, chemistry.chemical_compound, law, medicine, Polymerase chain reaction, Stomach, Gastroenterology, Cancer, medicine.disease, Immunohistochemistry, ArrayCGH, medicine.anatomical_structure, Oncology, chemistry, Cancer research, Biomarker (medicine), Original Article, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f53ccb4741c8954ba4f02b39fd86d9
https://pubmed.ncbi.nlm.nih.gov/22792519

المؤلفون: Yoko Ohashi, Tommy E Cupples, Saori J Kaneko, S.Robert Young

المصدر: Gynecologic oncology. 93(1)

مصطلحات موضوعية: Adult, UQCRFS1 gene, Protein subunit, Biopsy, Gene Amplification, Obstetrics and Gynecology, Breast Neoplasms, In situ hybridization, Biology, Middle Aged, medicine.disease, Molecular biology, Carcinoma, Ductal, Electron Transport Complex III, Breast cancer, Mitochondrial respiratory chain, Oncology, Coenzyme Q – cytochrome c reductase, Cancer cell, medicine, Humans, Female, Gene, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e2f1d0b1b8cffdcdf996684ed7b159
https://pubmed.ncbi.nlm.nih.gov/15047214