المؤلفون: Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Martin, Victoria Robins, John A. Sayer, Eric Olinger, Holly R. Mabillard, Gregory Papagregoriou, Constantinos Deltas, Christoforos Stavrou, Peter J. Conlon, Richard Edmund Hogan, Elhussein A.E. Elhassan, Drahomíra Springer, Tomáš Zima, Claudia Izzi, Alena Vrbacká, Lenka Piherová, Michal Pohludka, Martin Radina, Petr Vylet’al, Katerina Hodanova, Martina Zivna, Stanislav Kmoch, Anthony J. Bleyer

المصدر: BMC Nephrology, Vol 25, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Autosomal Dominant Tubulointerstitial kidney disease, MUC1, UMOD, COVID-19, Mucin-1, CA15-3, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/3d847b295ec0416db66c614b4dc045e8

المؤلفون: Francisco Gonçalves, Pedro Lisboa-Gonçalves, Rita Quental, Susana Fernandes, Sofia Quental, Laurence Michel-Calemard, Claire Goursaud, Sofia Marques, Joana Santos, Isabel Tavares, João Paulo Oliveira

المصدر: Nefrología, Vol 44, Iss 4, Pp 576-581 (2024)

مصطلحات موضوعية: Enfermedad renal tubulointersticial autosómica dominante, Nefropatía hiperuricémica juvenil familiar, Enfermedad renal crónica, Hiperuricemia, Uromodulina, UMOD, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0211699523001480; https://doaj.org/toc/0211-6995

URL الوصول: https://doaj.org/article/6055318c514143c99a0e128051c26fff

المؤلفون: Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

المصدر: EMBO Molecular Medicine, Vol 15, Iss 12, Pp 1-21 (2023)

مصطلحات موضوعية: ADTKD‐UMOD, aggregates, gain‐of‐function, kidney fibrosis, unfolded protein response, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/b1e346c60e1743ae8a8ec771aabc646a

المؤلفون: Furong Li, Huan Zou, Li Liu, Tangli Xiao, Bo Zhang, Jun Zhang

المصدر: Case Reports in Nephrology and Dialysis, Vol 13, Iss 1, Pp 129-134 (2023)

مصطلحات موضوعية: immunoglobulin, a nephropathy, tubular dilatation, umod, whole-exome sequencing, case report, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/531891; https://doaj.org/toc/2296-9705

URL الوصول: https://doaj.org/article/4280eccb6d2a45fb9a45a763e4a4f851

المؤلفون: Elhassan, Elhussein A. E, Kmochova, Tereza, Benson, Katherine A, Fennelly, Neil K, Baresova, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M, Kyne, Niamh C, Vyletal, Petr, Hartmannova, Hana, Hodanova, Katerina, Sovova, Jana, Musalkova, Dita, Vrbacka, Alena, Pristoupilova, Anna, Zivny, Jan, Svojsova, Klara, Radina, Martin, Stranecky, Viktor, Loginov, Dmitry, Pompach, Petr, Novak, Petr, Vanickova, Zdislava, Hansikova, Hana, Rajnochova Bloudickova, Silvie, Viklicky, Ondrej, Hulkova, Helena, Cavalleri, Gianpiero L, Hnizda, Ales, Bleyer, Anthony J, Kmoch, Stanislav, Conlon, Peter J, Zivna, Martina

المصدر: Kidney International Reports, 9(7), 2209-2226, (2024-01-01)

مصطلحات موضوعية: ALG5, autosomal-dominant polycystic kidney disease, autosomal dominant tubulo-interstitial kidney disease, Golgi apparatus, N-Linked protein glycosylation, UMOD

Relation: https://pubmed.ncbi.nlm.nih.gov/39081747; https://doi.org/10.1016/j.ekir.2024.04.031; https://zenodo.org/communities/ikem; https://zenodo.org/communities/cardia; oai:zenodo.org:13353676

الاتاحة: https://doi.org/10.1016/j.ekir.2024.04.031

المؤلفون: Yingsong Lin, Masahiro Nakatochi, Naoki Sasahira, Makoto Ueno, Naoto Egawa, Yasushi Adachi, Shogo Kikuchi

المصدر: Genes and Environment, Vol 43, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: GP2, Pancreas, Acinar cells, UMOD, Antibacterial, Genome-wide association study, Ecology, QH540-549.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1880-7062

URL الوصول: https://doaj.org/article/cd86520684ce48759ed48882ac9f59ca

المؤلفون: Maringhini, Silvio, Cusumano, Rosa, Corrado, Ciro, Puccio, Giuseppe, Pavone, Giovanni, D'Alessandro, Maria Michela, Sapia, Maria Chiara, Devuyst, Olivier, Abbate, Serena

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie

المصدر: Biomedicines, Vol. 11, no.2, p. 509 (2023)

مصطلحات موضوعية: urinary tract infection (UTI), uromodulin (UMOD), vesico-ureteral reflux (VUR)

Relation: boreal:291518; http://hdl.handle.net/2078.1/291518; info:pmid/36831047; urn:ISSN:2227-9059

الاتاحة: http://hdl.handle.net/2078.1/291518
https://doi.org/10.3390/biomedicines11020509

المؤلفون: Meng-shi Li, Yang Li, Lei Jiang, Zhuo-ran Song, Xiao-juan Yu, Hui Wang, Ya-li Ren, Su-xia Wang, Xu-jie Zhou, Li Yang, Hong Zhang

المصدر: Frontiers in Medicine, Vol 9 (2022)

مصطلحات موضوعية: ADTKD, UMOD, de novo mutation, case report, genetic kidney disease, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.1077655/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/3e87fb318a344f21a2c00420ba34e0af

المؤلفون: Ying Wang, Haibo Liu, Qingnan He, Zhuwen Yi, Yongzhen Li, Xiqiang Dang

المصدر: BMC Nephrology, Vol 21, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Hyperuricaemia, Kidney disease, ADTKD, UMOD, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12882-020-02022-1; https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/a7ba146bac3047f6b84bfe74d389e9ef

المؤلفون: Anamarija Meglic, Marusa Debeljak, Jernej Kovac, Alenka Trampus Bakija, Vladan Rajic, Nika Kojc, Katarina Trebusak Podkrajsek

المصدر: Nefrología, Vol 40, Iss 4, Pp 421-428 (2020)

مصطلحات موضوعية: Esferocitosis hereditaria, Nefropatía tubulointersticial, Gen de la espectrina βI, UMOD, Nefropatía crónica, Secuenciación de nueva generación, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0211699520300047; https://doaj.org/toc/0211-6995

URL الوصول: https://doaj.org/article/90587a63775d40c2a850e5c835119e8a

المؤلفون: YOU Rui-lian, XU Lu-bin, CHEN Li-meng

المصدر: Jichu yixue yu linchuang, Vol 40, Iss 4, Pp 557-561 (2020)

مصطلحات موضوعية: uromodulin, umod, chronic kidney disease, mendelian randomization, Medicine

وصف الملف: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a190719.pdf; https://doaj.org/toc/1001-6325

URL الوصول: https://doaj.org/article/21534132344545f9903d68bda725b622

المؤلفون: Econimo, Laura, Schaeffer, Celine, Zeni, Letizia, Cortinovis, Roberta, Alberici, Federico, Rampoldi, Luca, Scolari, Francesco, Izzi, Claudia

المساهمون: Econimo, Laura, Schaeffer, Celine, Zeni, Letizia, Cortinovis, Roberta, Alberici, Federico, Rampoldi, Luca, Scolari, Francesco, Izzi, Claudia

مصطلحات موضوعية: ADTKD, DNAJB11, HNF1B, MUC1, REN, UMOD

Relation: info:eu-repo/semantics/altIdentifier/pmid/36531871; info:eu-repo/semantics/altIdentifier/wos/WOS:001043674200001; volume:7; issue:11; firstpage:2332; lastpage:2344; numberofpages:13; journal:KIDNEY INTERNATIONAL REPORTS; https://hdl.handle.net/20.500.11768/135481

الاتاحة: https://hdl.handle.net/20.500.11768/135481
https://doi.org/10.1016/j.ekir.2022.08.012
https://www.kireports.org/article/S2468-0249(22)01711-9/fulltext

المؤلفون: Shiuan-Chen Lin, Chun Ma, Kao-Jung Chang, Han-Ping Cheong, Ming-Cheng Lee, Yuan-Tzu Lan, Chien-Ying Wang, Shih-Hwa Chiou, Teh-Ia Huo, Tsui-Kang Hsu, Ping-Hsing Tsai, Yi-Ping Yang

المصدر: Biomedicines; Volume 10; Issue 9; Pages: 2169

مصطلحات موضوعية: WNK kinase, post-translational modifications, blood pressure regulation, NCC, NKCCs, ROMK, ENaC, SPAK/OSR1, UMOD, PHAII

وصف الملف: application/pdf

Relation: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines10092169

الاتاحة: https://doi.org/10.3390/biomedicines10092169

المؤلفون: Yang Wang, Ming-Fei Du, Shi Yao, Ting Zou, Xiao-Yu Zhang, Gui-Lin Hu, Chao Chu, Yue-Yuan Liao, Chen Chen, Dan Wang, Qiong Ma, Ke-Ke Wang, Yue Sun, Ze-Jiaxin Niu, Rui-Chen Yan, Yu Yan, Hao-Wei Zhou, Hao Jia, Wei-Hua Gao, Hao Li, Chun-Hua Li, Fang-Yao Chen, Ke Gao, Jie Zhang, Robert Safirstein, Feng Wang, Tie-Lin Yang, Jian-Jun Mu

المصدر: Frontiers in Cardiovascular Medicine, Vol 8 (2021)

مصطلحات موضوعية: gene polymorphism, hypertension, uromodulin (UMOD), longitudinal change, blood pressure, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2021.710023/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/22c1c90570df4dbf91dba7f67b782e71

المؤلفون: Jing Yang, Yu Zhang, Jianhua Zhou

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Autosomal dominant tubulointerstitial kidney disease, UMOD gene mutation, Hyperuricemia, Gout, ESRD, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-019-1522-7; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/cd1b86f3d397412896461828f98ce9db

المؤلفون: Haiying Li (164527), Stephen A. Kostel (10218540), Shannon E. DiMartino (10218543), Ali Hashemi Gheinani (4862152), John W. Froehlich (1324989), Richard S. Lee (740487)

مصطلحات موضوعية: Biophysics, Biochemistry, Microbiology, Cell Biology, Genetics, Ecology, Immunology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, urine, glycosylation analysis, UMOD, glycan

Relation: https://figshare.com/articles/journal_contribution/Uromodulin_Isolation_and_Its_i_N_i_Glycosylation_Analysis_by_NanoLC-MS_MS/14141199

الاتاحة: https://doi.org/10.1021/acs.jproteome.0c01053.s001

المؤلفون: Jinwei Wang, Lili Liu, Kevin He, Bixia Gao, Fang Wang, Minghui Zhao, Luxia Zhang, on behalf of the Chinese Cohort Study of Chronic Kidney Disease (C-STRIDE) on behalf of the Chinese Cohort Study of Chronic Kidney Disease (C-STRIDE)

المصدر: Genes; Volume 12; Issue 11; Pages: 1687

مصطلحات موضوعية: all-cause mortality, chronic kidney disease, genetic association, outcomes, single nucleotide polymorphism, UMOD gene

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12111687

الاتاحة: https://doi.org/10.3390/genes12111687

المؤلفون: Špela Šalamon, Sebastjan Bevc, Robert Ekart, Radovan Hojs, Uroš Potočnik

المصدر: Genes; Volume 12; Issue 6; Pages: 834

مصطلحات موضوعية: chronic kidney disease (CKD), kidney failure, rs2453533, rs4293393, GATM, UMOD, SNP, eGFR

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12060834

الاتاحة: https://doi.org/10.3390/genes12060834

المؤلفون: Villagomez Fuentes, Linda Elizabeth, Algharably, Engi Abdel–Hady, Toepfer, Sarah, König, Maximilian, Demuth, Ilja, Bertram, Lars, Kreutz, Reinhold, Bolbrinker, Juliane

مصطلحات موضوعية: UMOD gene, kidney function, blood pressure, cognitive and physical function, older adults, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/40221; http://dx.doi.org/10.17169/refubium-39941

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/40221
https://doi.org/10.17169/refubium-39941
https://doi.org/10.1038/s41371-021-00608-2

المؤلفون: S. Cormican, D. M. Connaughton, C. Kennedy, S. Murray, M. Živná, S. Kmoch, N. K. Fennelly, P. O’Kelly, K. A. Benson, E. T. Conlon, G. Cavalleri, C. Foley, B. Doyle, A. Dorman, M. A. Little, P. Lavin, K. Kidd, A. J. Bleyer, P. J. Conlon

المصدر: Renal Failure, Vol 41, Iss 1, Pp 832-841 (2019)

مصطلحات موضوعية: adtkd, genetic, muc-1, umod, chronic kidney disease, hnf-1b, urinary smear, frameshift, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0886-022X; https://doaj.org/toc/1525-6049

URL الوصول: https://doaj.org/article/b14e21a261104580bccc774c2f595a7f