المؤلفون: Jingyu Ma, Zhijuan Hu, Qiong Liu, Jing Li, Jiejie Li

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: ADTKD, acute kidney injury, hyperuricemia, REN, renal insufficiency, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1415064/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/a1d8e341d6d44f7d95734f2a4ec9f3f6

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: Mariniello, Marta, Schiano, Guglielmo, Yoshifuji, Ayumi, Gillion, Valentine, Sayer, John Andrew, Jouret, François, Genkyst Study Group, Le Meur, Yannick, Cornec-Le Gall, Emilie, Olinger, Eric Gregory, Devuyst, Olivier

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

المصدر: Kidney international, Vol. 105, no.2, p. 376-380 (2024)

مصطلحات موضوعية: Humans, HSP40 Heat-Shock Proteins, Mutation, Nephritis, Interstitial, Uromodulin, ADPKD, ADTKD, chaperone, secretory pathway

Relation: boreal:285721; http://hdl.handle.net/2078.1/285721; info:pmid/38016513; urn:EISSN:1523-1755

الاتاحة: http://hdl.handle.net/2078.1/285721
https://doi.org/10.1016/j.kint.2023.11.008

المؤلفون: Doctor, Gabriel T, Gale, Daniel P, Chan, Melanie My

المصدر: Clinical Medicine Journal , 23 (3) pp. 246-249. (2023)

مصطلحات موضوعية: Alport syndrome, ADPKD, ADTKD, FSGS, genomics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10171266/1/2023%20Doctor%20Genomics%20in%20the%20renal%20clinic%20Clin%20Med%20%28Lond%29%202023.pdf; https://discovery.ucl.ac.uk/id/eprint/10171266/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10171266/1/2023%20Doctor%20Genomics%20in%20the%20renal%20clinic%20Clin%20Med%20%28Lond%29%202023.pdf
https://discovery.ucl.ac.uk/id/eprint/10171266/

المؤلفون: Gary P. Leggatt, Eleanor G. Seaby, Kristin Veighey, Christine Gast, Rodney D. Gilbert, Sarah Ennis

المصدر: Genes; Volume 14; Issue 8; Pages: 1582

مصطلحات موضوعية: tubulointerstitial kidney disease, genetic modifiers, modifier genes, monogenic TKD, ADTKD

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14081582

الاتاحة: https://doi.org/10.3390/genes14081582

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: Akinari Sekine, Daisuke Ikuma, Eiko Hasegawa, Hiroki Mizuno, Junichi Hoshino, Kandai Nozu, Kei Kono, Keiichi Kinowaki, Kenichi Ohashi, Masayuki Yamanouchi, Naoki Sawa, Tatsuya Suwabe, Yoshifumi Ubara, Yuki Nakayama, Yuki Oba, Yutaka Yamaguchi

المصدر: Internal Medicine. 2023, 62(3):419

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: 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: Huan-Da Chen, Chih-Chuan Yu, I-Hsiao Yang, Chi-Chih Hung, Mei-Chuan Kuo, Der-Cherng Tarng, Jer-Ming Chang, Daw-Yang Hwang

المصدر: Biomedicines; Volume 10; Issue 9; Pages: 2265

مصطلحات موضوعية: uromodulin, chronic kidney disease (CKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), kidney failure (KF)

وصف الملف: application/pdf

Relation: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines10092265

الاتاحة: https://doi.org/10.3390/biomedicines10092265

المؤلفون: Kidd, Kendrah Osborne

المساهمون: Kmoch, Stanislav, Rajnochová Bloudíčková, Silvie, Hoorn, Ewout J., Živná, Martina

مصطلحات موضوعية: Inherited Kidney Disease, Autosomal Tubulointerstitial Kidney Disease, ADTKD, UMOD, REN, MUC1, APOA4, rare disease, uromodulin, renin, mucin-1, patient database, end stage kidney disease, ESKD, ADTKD registry, dědičně podmíněných onemocnění ledvin, autosomálně dominantní tubulointersticiální onemocnění ledvin, vzácných onemocnění, databázi pacientů, selhání ledvin, ADTKD registr

وصف الملف: application/pdf

Relation: http://hdl.handle.net/20.500.11956/195620; 209689

الاتاحة: https://hdl.handle.net/20.500.11956/195620

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

المؤلفون: Mariniello, Marta, Schiano, Guglielmo, Yoshifuji, Ayumi, Gillion, Valentine, Sayer, John Andrew, Jouret, François, Genkyst Study Group, Le Meur, Yannick, Cornec-Le Gall, Emilie, Olinger, Eric Gregory, Devuyst, Olivier

المصدر: Kidney International (2023-11-26)

مصطلحات موضوعية: ADPKD, ADTKD, chaperone, secretory pathway, uromodulin, Nephrology, Human health sciences, Urology & nephrology, Sciences de la santé humaine, Urologie & néphrologie

Relation: https://api.elsevier.com/content/article/PII:S0085253823007858?httpAccept=text/xml; urn:issn:0085-2538; urn:issn:1523-1755

URL الوصول: https://orbi.uliege.be/handle/2268/309379

المؤلفون: Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu

المصدر: Kidney International Reports. 7(4):857-866

مصطلحات موضوعية: ADTKD, Nephrology, NGS, long-read sequencing, SMRT sequencing, ADTKD-MUC1, MCKD

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b66fdc957ed08d9c165f171b31d63e7
http://www.lib.kobe-u.ac.jp/handle_kernel/90009534

المؤلفون: Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca

المساهمون: Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca

مصطلحات موضوعية: ADTKD, zebrafish, genetic disorder, mutation, renin

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31406136; info:eu-repo/semantics/altIdentifier/wos/WOS:000480384500017; volume:9; issue:1; firstpage:11601; lastpage:11609; numberofpages:9; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11562/999015; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070723222

الاتاحة: http://hdl.handle.net/11562/999015
https://doi.org/10.1038/s41598-019-48014-6

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

مصطلحات موضوعية: ADTKD, Genetic, MUC-1, UMOD, Chronic kidney disease, HNF-1B, Urinary smear, Frameshift, Immunology, Inflammation & Infection

Relation: Renal failure; Cormican, S., Connaughton, D.M., Kennedy, C., Murray, S., ?ivn?, M., Kmoch, S., Fennelly, N.K., O'Kelly, P., Benson, K.A., Conlon, E.T., Cavalleri, G., Foley, C., Doyle, B. & Conlon, P.J., Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland, Renal failure, 2019; Y; http://hdl.handle.net/2262/91398; http://people.tcd.ie/mlittle; 211054; https://doi.org/10.1111/ctr.13783; orcid:0000-0001-6003-397X

الاتاحة: http://hdl.handle.net/2262/91398
http://people.tcd.ie/mlittle
https://doi.org/10.1111/ctr.13783
https://onlinelibrary.wiley.com/doi/abs/10.1111/ctr.13783

المؤلفون: Gale, DP, Kleta, R

المصدر: J Am Soc Nephrol (2018)

مصطلحات موضوعية: ADTKD, genetic renal disease, mucin

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10054911/1/MUC1%20editorial%20final%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/10054911/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10054911/1/MUC1%20editorial%20final%20version.pdf
https://discovery.ucl.ac.uk/id/eprint/10054911/

المؤلفون: Satanovskij, R., Bader, A., Block, M., Herbst, V., Schlumberger, W., Haack, T.B., Nockher, W.A., Heemann, U., Renders, L., Schmaderer, C., Angermann, S., Wen, M., Meitinger, T., Scherberich, J., Steubl, D.

المصدر: Clin. Biochem. 50, 155-158 (2017)

مصطلحات موضوعية: Adtkd-umod, Biomarker, Chronic Kidney Disease, Fjhn, Proteinuria, Tamm-horsfall Protein, Tubulointerstitial Disease, Uakd, Uromodulin, Egfr

وصف الملف: application/msword

Relation: info:eu-repo/semantics/altIdentifier/pmid/27729211; info:eu-repo/semantics/altIdentifier/wos/WOS:000393736100011; info:eu-repo/semantics/altIdentifier/isbn/0009-9120; info:eu-repo/se; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49718; urn:isbn:0009-9120; urn:issn:0009-9120

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49718
https://doi.org/10.1016/j.clinbiochem.2016.10.003

المؤلفون: Francesco Scolari, Cinzia Mazza, Laura Econimo, Federico Alberici, Chiara Dordoni, Luca Rampoldi, Claudia Izzi, Eva Martin, Gianfranco Savoldi, Francesca Romana Grati, Elisa Delbarba

المساهمون: Izzi, C, Dordoni, C, Econimo, L, Delbarba, E, Grati, Fr, Martin, E, Mazza, C, Savoldi, G, Rampoldi, L, Alberici, F, Scolari, F

المصدر: Kidney International Reports

مصطلحات موضوعية: Pathology, medicine.medical_specialty, HNF1B, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, 030204 cardiovascular system & hematology, Medullary sponge kidney, Nephropathy, 03 medical and health sciences, Cystic kidney disease, 0302 clinical medicine, medullary sponge kidney, Clinical Research, Medicine, tubulointerstitial nephritis, CAKUT, ADPKD, nephrogenic diabetes, Kidney, ADTKD, business.industry, RCAD, Nephrogenic diabetes insipidus, medicine.disease, Gout, medicine.anatomical_structure, Nephrology, business, cystic kidney disease, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7b65791e387998cb9d2e3fd49ed6c8
http://europepmc.org/articles/PMC7710890

المؤلفون: Maris S. Wilkins, Lihong Bu, Minxian Wang, Ava Benjamin, Andrea L. Uscinski Knob, Martin R. Pollak, Justin Chun

المصدر: Kidney International Reports
Kidney International Reports, Vol 5, Iss 4, Pp 519-529 (2020)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Tamm–Horsfall protein, uromodulin, glomerular disease, 030232 urology & nephrology, 030204 cardiovascular system & hematology, lcsh:RC870-923, urologic and male genital diseases, UMOD, Podocyte, 03 medical and health sciences, 0302 clinical medicine, Focal segmental glomerulosclerosis, Translational Research, Medicine, autosomal dominant tubulointerstitial kidney disease, Exome sequencing, Genetic testing, Kidney, Proteinuria, ADTKD, medicine.diagnostic_test, biology, urogenital system, business.industry, UMOD-associated kidney disease, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, female genital diseases and pregnancy complications, FSGS, medicine.anatomical_structure, Nephrology, biology.protein, medicine.symptom, business, exome sequencing, chronic kidney disease, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d752405fc713315abda7aeb305eb1a
https://doi.org/10.1016/j.ekir.2019.12.016