المؤلفون: Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer

المصدر: Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)

مصطلحات موضوعية: autosomal dominant uromodulin kidney disease, genotype, phenotype, rs4293393, uromodulin, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024920313528; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/8ab1799f3ce441279d9513d18436243b

المؤلفون: Seth L. Alper, Rebecca P. Hughey, Hannah C. Ainsworth, Victoria Robins, Petr Vylet'al, Tomáš Zima, Alena Vrbacká, Kateřina Hodaňová, Hana Hartmannová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Carl D. Langefeld, Abbigail Taylor, Drahomira Springer, Katrice Howard, Maegan Harden, Anna Přistoupilová, Stanislav Kmoch, Ibrahim Bitar, Steven M. Harrison, Niall J. Lennon, Lauren Martin, Veronika Baresova

المصدر: American Journal of Nephrology. 52:378-387

مصطلحات موضوعية: CA15-3, medicine.medical_specialty, business.industry, Mucin, Renal function, medicine.disease, Endocrinology, Breast cancer, Nephrology, Internal medicine, Genotype, medicine, Allele, business, MUC1, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2cd96461c335888b322fa024cce5a37c
https://doi.org/10.1159/000515810

المؤلفون: Ivan Hrdlicka, Helena Hulkova, Viktor Stranecky, Ivana Jedličková, Ibrahim Bitar, Kristyna Pivovarcikova, Alena Vrbacká, Stanislav Kmoch, Jiri Fremuth, Tomas Honzik, Eva Hruba, Jakub Sikora, Radoslav Matej, Pavel Ješina, Anna Pristoupilova

المصدر: Journal of Neuropathology & Experimental Neurology. 79:1065-1071

مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Biopsy, Intranuclear Inclusion Bodies, Autopsy, Neuropathology, Disease, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Trinucleotide Repeats, Humans, Medicine, Receptor, Notch2, Child, Skin, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, business.industry, Infant, Newborn, Brain, Infant, Neurodegenerative Diseases, General Medicine, medicine.disease, medicine.anatomical_structure, Spinal Cord, Neurology, Child, Preschool, Skin biopsy, Cerebellar atrophy, Neurology (clinical), business, Developmental regression, Polyneuropathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d805622b155b330c77afdf890b5d81
https://doi.org/10.1093/jnen/nlaa070

المؤلفون: Petr, Vylet'al, Kendrah, Kidd, Hannah C, Ainsworth, Drahomíra, Springer, Alena, Vrbacká, Anna, Přistoupilová, Rebecca P, Hughey, Seth L, Alper, Niall, Lennon, Steven, Harrison, Maegan, Harden, Victoria, Robins, Abbigail, Taylor, Lauren, Martin, Katrice, Howard, Ibrahim, Bitar, Carl D, Langefeld, Veronika, Barešová, Hana, Hartmannová, Kateřina, Hodaňová, Tomáš, Zima, Martina, Živná, Stanislav, Kmoch, Anthony J, Bleyer

المصدر: Am J Nephrol

مصطلحات موضوعية: Adult, Male, Patient-Oriented, Translational Research: Research Article, Mucin-1, Middle Aged, Prognosis, digestive system, biological factors, digestive system diseases, Healthy Volunteers, Cross-Sectional Studies, Case-Control Studies, Mutation, Uromodulin, Humans, Nephritis, Interstitial, Female, skin and connective tissue diseases, neoplasms, Alleles, Biomarkers, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::38540289ab8d093d8b6f4b660318170a
https://pubmed.ncbi.nlm.nih.gov/34098564

المؤلفون: Karl Lhotta, Peter J. Conlon, Daniel P. Gale, Victoria Robins, Miroslav Votruba, Kendrah Kidd, Céline Schaeffer, Dominik Steubl, Ying Maggie Chen, Catarina Silveira, Gianluca Caridi, Lauren Martin, Claudia Izzi, Antonio Amoroso, Eric Olinger, Jorge Reis Almeida, Stanislav Kmoch, Rita Raposeiro, Daniela Gianchino, Alena Vrbacká, Hannah C. Ainsworth, Martina Živná, Gian Marco Ghiggeri, Kateřina Hodaňová, Rosa J. Torres, Christine Gast, Joaquim Calado, Abbigail Taylor, Olivier Devuyst, Katherine A. Benson, Susan L. Murray, Cintia Fernandes de Souza, Eva Gombos, Emily Johnson, Francesco Scolari, Gianpiero L. Cavalleri, Petr Vylet'al, Jasmin Divers, Anthony J. Bleyer, Luca Rampoldi, Sofia C Jorge, Nelson Weller

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Centre for Toxicogenomics and Human Health (ToxOmics), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Kidd, K, Vylet’Al, P, Schaeffer, C, Olinger, E, Živná, M, Hodaňová, K, Robins, V, Johnson, E, Taylor, A, Martin, L, Izzi, C, Jorge, Sc, Calado, J, Torres, Rj, Lhotta, K, Steubl, D, Gale, Dp, Gast, C, Gombos, E, Ainsworth, H, Chen, Ym, Almeida, Jr, Fernandes de Souza, C, Silveira, C, Raposeiro, R, Weller, N, Conlon, P, Murray, S, Benson, Ka, Cavalleri, G, Votruba, M, Vrbacká, A, Amoroso, A, Gianchino, D, Caridi, G, Ghiggeri, Gm, Divers, J, Scolari, F, Devuyst, O, Rampoldi, L, Kmoch, S, Bleyer, A

المصدر: Kidney International Reports, Vol. 5, no. 9, p. 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, autosomal dominant uromodulin kidney disease, Tamm–Horsfall protein, phenotype, uromodulin, genotype, Population, 030232 urology & nephrology, 030204 cardiovascular system & hematology, lcsh:RC870-923, rs4293393, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, Mendelian randomization, medicine, Allele, education, Allele frequency, education.field_of_study, biology, business.industry, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Minor allele frequency, Ophthalmology, Nephrology, biology.protein, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050
https://hdl.handle.net/2078.1/239393

المؤلفون: Martina, Živná, Kendrah, Kidd, Anna, Přistoupilová, Veronika, Barešová, Mathew, DeFelice, Brendan, Blumenstiel, Maegan, Harden, Peter, Conlon, Peter, Lavin, Dervla M, Connaughton, Hana, Hartmannová, Kateřina, Hodaňová, Viktor, Stránecký, Alena, Vrbacká, Petr, Vyleťal, Jan, Živný, Miroslav, Votruba, Jana, Sovová, Helena, Hůlková, Victoria, Robins, Rebecca, Perry, Andrea, Wenzel, Bodo B, Beck, Tomáš, Seeman, Ondřej, Viklický, Sylvie, Rajnochová-Bloudíčková, Gregory, Papagregoriou, Constantinos C, Deltas, Seth L, Alper, Anna, Greka, Anthony J, Bleyer, Stanislav, Kmoch

المصدر: J Am Soc Nephrol

مصطلحات موضوعية: Male, Incidence, Biopsy, Needle, Mucin-1, Polycystic Kidney, Autosomal Dominant, Prognosis, Immunohistochemistry, Risk Assessment, Pedigree, Case-Control Studies, Mutation, Humans, Female, Genetic Predisposition to Disease, Registries, Erratum, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e1e9fe02af7390bed48f1a9a951f80e
https://pubmed.ncbi.nlm.nih.gov/32234832

المؤلفون: Markéta Tesařová, Lenka Nosková, Vilma Kaplanová, Josef Houštěk, Alena Vrbacká-Čížková, Stanislav Kmoch, Hana Kratochvílová, Marek Vrbacký, Jana Buzkova, Hana Hartmannová, Kateřina Hejzlarová, Vendula Havlíčková, Jiří Zeman

المصدر: Biochimica et biophysica acta. 1807(1)

مصطلحات موضوعية: DNA, Complementary, Blotting, Western, Molecular Sequence Data, Submitochondrial Particles, Biophysics, TMEM70, Mitochondrion, Kidney, Biochemistry, Mass Spectrometry, Green fluorescent protein, Cell Line, Mitochondrial Proteins, chemistry.chemical_compound, Mice, Biosynthesis, Western blot, ATP synthase gamma subunit, medicine, Escherichia coli, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, Inner mitochondrial membrane, Biogenesis, ATP synthase, biology, medicine.diagnostic_test, Sequence Homology, Amino Acid, Membrane Proteins, Cell Biology, Fibroblasts, Mitochondrial Proton-Translocating ATPases, Molecular biology, Transmembrane protein, Mitochondria, chemistry, biology.protein, Cattle, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47a351c6cfd5b1feca42e1281f288cb4
https://pubmed.ncbi.nlm.nih.gov/20937241

المؤلفون: Stanislav Kmoch, Josef Houštěk, Ewa Pronicka, Petr Pecina, Alena Vrbacká-Čížková, Viktor Stránecký, Nikola Kovářová

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1797:51

مصطلحات موضوعية: Therapeutic gene modulation, FGF10, Biophysics, Cell Biology, Gene mutation, Biology, Biochemistry, Molecular biology, medicine.anatomical_structure, Chain (algebraic topology), Cell culture, Gene expression, medicine, SURF1, Fibroblast

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672c4625bed6c25c44926e1c06de9949
https://doi.org/10.1016/j.bbabio.2010.04.167

المؤلفون: Stanislav Kmoch, Ewa Pronicka, Viktor Stránecký, Nikola Kovářová, Josef Houštěk, Petr Pecina, Alena Vrbacká

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. (7):1114-1124

مصطلحات موضوعية: Cell Extracts, Male, Protein subunit, Respiratory chain, Biophysics, Cytochrome-c Oxidase Deficiency, Mitochondrion, Biology, Gene mutation, Biochemistry, Cell Line, Electron Transport, Electron Transport Complex IV, Mitochondrial Proteins, Electron Transport Complex III, Cytochrome c oxidase, Humans, SURF1, Oxidative phosphorylation, Molecular Biology, Electron Transport Complex I, Membrane Proteins, COX5A, Cell Biology, SURF1 gene, Fibroblasts, Molecular biology, Leigh syndrome, Mitochondria, Mitochondrial disorder, Gene expression profiling, Protein Subunits, Cyclooxygenase 2, Mutation, biology.protein, Cyclooxygenase 1, Molecular Medicine, Female, Gene expression, Leigh Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84d10dc72ed27c5ca67f09294e8cefa8

المؤلفون: Kateřina Hejzlarová, Hana Nůsková, Stanislav Kmoch, Vendula Karbanová, Viktor Stránecký, Josef Houštěk, Andrea Potocká, Alena Vrbacká

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. (7):1037-1043

مصطلحات موضوعية: Biophysics, Respiratory chain, TMEM70, Oxidative phosphorylation, Biology, medicine.disease_cause, DNA, Mitochondrial, Biochemistry, Electron Transport, Electron Transport Complex IV, Mitochondrial Proteins, Electron Transport Complex III, Downregulation and upregulation, Mitochondrial biogenesis, medicine, Humans, Disease, RNA, Messenger, Mutation, Paraplegin, ATP synthase, Membrane Proteins, Cell Biology, Fibroblasts, Mitochondrial Proton-Translocating ATPases, Molecular biology, Gene expression profiling, Mitochondria, Up-Regulation, Coenzyme Q – cytochrome c reductase, biology.protein, Peptide Hydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2989f064059c69dbc6a2cff575a0d1b2