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

العلاقة: http://www.sciencedirect.com/science/article/pii/S2468024920313528Test; https://doaj.org/toc/2468-0249Test

الوصول الحر: https://doaj.org/article/8ab1799f3ce441279d9513d18436243bTest

المؤلفون: Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Dufour, Inès, Belge, Hendrica, Schaeffer, Céline, Kipp, Anne, Bonny, Olivier, Deltas, Constantinos, Demoulin, Nathalie, Fehr, Thomas, Fuster, Daniel G, Gale, Daniel P, Goffin, Eric, Hodanova, KateÅ™ina, Hyunh-Do, Uyen, Kistler, Andreas D, Morelle, Johann, Papagregoriou, Gregory, Pirson, Yves, Sandford, Richard, Sayer, John A, Torra, Roser, Venzin, Chritina, Venzin, Reto, Vogt, Bruno, Živná, Martina, Greka, Anna, Dahan, Karin, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J Sr, Devuyst, Olivier

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: Kidney international, Vol. 98, no. 3, p. 717-731 (2020)

مصطلحات موضوعية: Diagnostic score, Dominant kidney disease, Gout, Mucin-1, Uromodulin

العلاقة: boreal:230384; http://hdl.handle.net/2078.1/230384Test; info:pmid/32450155; urn:ISSN:0085-2538; urn:EISSN:1523-1755

الإتاحة: https://doi.org/10.1016/j.kint.2020.04.038Test
http://hdl.handle.net/2078.1/230384Test

المؤلفون: Nadia Ayasreh, Rosa Miquel, Ana Matamala, Elisabet Ars, Roser Torra

المصدر: Nefrología (English Edition), Vol 37, Iss 3, Pp 235-243 (2017)

مصطلحات موضوعية: Autosomal dominant tubulointerstitial kidney disease, Uromodulin, Mucin-1, Hepatocyte nuclear factor beta, Renin, Hereditary kidney disease, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2013251417301098Test; https://doaj.org/toc/2013-2514Test

الوصول الحر: https://doaj.org/article/b64b5765826a49ec875934ec943bd69eTest

المؤلفون: Andreas Leiherer, Axel Muendlein, Christoph H. Saely, Janine Ebner, Eva M. Brandtner, Peter Fraunberger, Heinz Drexel

المصدر: Data in Brief, Vol 11, Iss C, Pp 576-580 (2017)

مصطلحات موضوعية: Uromodulin, Tamm–Horsfall-Protein, Creatinine, Ratio, Biomarker, Kidney disease, Cardiovascular events, Coronary patients, Mortality, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352340917300793Test; https://doaj.org/toc/2352-3409Test

الوصول الحر: https://doaj.org/article/bb6037ad0d074d59984a963d072c26d6Test

المؤلفون: Tokonami, Natsuko, Takata, Tomoaki, Beyeler, Jan, Ehrbar, Iris, Yoshifuji, Ayumi, Christensen, Erik I, Loffing, Johannes, Devuyst, Olivier, Olinger, Eric G

المصدر: Tokonami, Natsuko; Takata, Tomoaki; Beyeler, Jan; Ehrbar, Iris; Yoshifuji, Ayumi; Christensen, Erik I; Loffing, Johannes; Devuyst, Olivier; Olinger, Eric G (2018). Uromodulin is expressed in the distal convoluted tubule, where it is critical for regulation of the sodium chloride cotransporter NCC. Kidney International, 94(4):701-715.

مصطلحات موضوعية: Institute of Anatomy, Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Na(+)/Cl(−)-cotransporter, blood pressure regulation, distal convoluted tubule, salt handling, uromodulin

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/152617/1/1-s2.0-S0085253818303491-main.pdfTest; info:pmid/30007527; urn:issn:0085-2538

الإتاحة: https://doi.org/10.5167/uzh-15261710.1016/j.kint.2018.04.021Test
https://www.zora.uzh.ch/id/eprint/152617Test/
https://www.zora.uzh.ch/id/eprint/152617/1/1-s2.0-S0085253818303491-main.pdfTest

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050Test
https://hdl.handle.net/2078.1/239393Test

المؤلفون: Nathalie Demoulin, Eric Goffin, Yves Pirson, Anna Greka, Patrick Hofmann, Uyen Huynh-Do, Olivier Devuyst, Olivier Bonny, Johann Morelle, Gregory Papagregoriou, Roser Torra, Karin Dahan, Hendrica Belge, Bruno Vogt, Constantinos Deltas, John A. Sayer, Anthony J. Bleyer, Céline Schaeffer, Kendrah Kidd, Daniel Guido Fuster, Luca Rampoldi, Eric Olinger, Stanislav Kmoch, Kateřina Hodaňová, Anne Kipp, Inès Dufour, Reto Martin Venzin, Thomas Fehr, Andreas D. Kistler, Christina Venzin, Martina Živná, Daniel P. Gale, Richard Sandford

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Olinger, E, Hofmann, P, Kidd, K, Dufour, I, Belge, H, Schaeffer, C, Kipp, A, Bonny, O, Deltas, C, Demoulin, N, Fehr, T, Fuster, Dg, Gale, Dp, Goffin, E, Hodanova, K, Hyunh-Do, U, Kistler, Ad, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, Ja, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Kmoch, S, Bleyer AJ, Sr, Devuyst, O

المصدر: Kidney international, Vol. 98, no. 3, p. 717-731 (2020)
Olinger, E.; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, D.G.; Gale, D P; Goffin, E; Hodanova, K; Huynh-Do, U.; Kistler, A D; Morelle, J; Papagregoriou, G; Pirson, Y; ... (2020). Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney international, 98(3), pp. 717-731. Elsevier 10.1016/j.kint.2020.04.038 <http://dx.doi.org/10.1016/j.kint.2020.04.038Test>

مصطلحات موضوعية: 0301 basic medicine, Nephrology, medicine.medical_specialty, Tamm–Horsfall protein, Gout, Urinary system, 030232 urology & nephrology, 610 Medicine & health, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Diagnostic score, Internal medicine, Uromodulin, Humans, Medicine, Genetic Testing, Genetic testing, Mutation, Kidney, medicine.diagnostic_test, biology, business.industry, Mucin-1, Middle Aged, Polycystic Kidney, Autosomal Dominant, medicine.disease, Dominant kidney disease, Europe, 030104 developmental biology, medicine.anatomical_structure, biology.protein, business, Kidney disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53efa6ffdf8c50799ea1d3f4aea4a9fdTest
https://hdl.handle.net/2078.1/230384Test

المؤلفون: Yuichi Takiue, Masaki Kimura, Hidetsugu Saito, Makoto Hosoyamada

المصدر: Journal of Pharmacological Sciences, Vol 115, Iss 3, Pp 383-389 (2011)

مصطلحات موضوعية: Male, Genetically modified mouse, medicine.medical_specialty, Tamm–Horsfall protein, medicine.drug_class, Mutant, Mice, Transgenic, Kidney, medicine.disease_cause, Mice, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Internal medicine, Uromodulin, medicine, Animals, Humans, Testosterone, Allantoin, Pharmacology, Mutation, biology, Gene Expression Profiling, lcsh:RM1-950, Membrane Proteins, Cytochrome P450, Androgen, Molecular biology, Uric Acid, medicine.anatomical_structure, Endocrinology, lcsh:Therapeutics. Pharmacology, Androgens, biology.protein, Gene chip analysis, Molecular Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b167677078754904be2c61f88a691dTest
http://www.sciencedirect.com/science/article/pii/S1347861319307674Test

المؤلفون: Matafora, Vittoria, Zagato, Laura, Ferrandi, Mara, Molinari, Isabella, Zerbini, Gianpaolo, Casamassima, Nunzia, Lanzani, Chiara, Delli Carpini, Simona, Manunta, Paolo, Bachi, Angela, TREPICCIONE, Francesco, CAPASSO, Giovambattista

المساهمون: Matafora, Vittoria, Zagato, Laura, Ferrandi, Mara, Molinari, Isabella, Zerbini, Gianpaolo, Casamassima, Nunzia, Lanzani, Chiara, Delli Carpini, Simona, Trepiccione, Francesco, Manunta, Paolo, Bachi, Angela, Capasso, Giovambattista

مصطلحات موضوعية: Glomerular injury, Nephrinuria, Quantitative proteomic, Salt homeostasi, Salt sensitive hypertension, Urinary biomarker, Uromodulin

العلاقة: volume:2; firstpage:79; lastpage:87; journal:BBA CLINICAL; http://hdl.handle.net/11591/353634Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908568215; http://www.journalsTest.elsevier.com/bba-clinical/

الإتاحة: https://doi.org/10.1016/j.bbacli.2014.10.001Test
http://hdl.handle.net/11591/353634Test
http://www.journalsTest.elsevier.com/bba-clinical/

المصدر: Kidney international, Vol. 98, no. 3, p. 717-731 (2020)

مصطلحات الفهرس: Diagnostic score, Dominant kidney disease, Gout, Mucin-1, Uromodulin, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/230384Test