المؤلفون: Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang

المصدر: Chinese Medical Journal, Vol 130, Iss 20, Pp 2459-2464 (2017)

مصطلحات موضوعية: Autosomal Dominant Tubulointerstitial Kidney Diseases, Genotyping, Medullary Cystic Kidney Disease, MUC1 Gene, Variable Number Tandem Repeat, Medicine

وصف الملف: electronic resource

Relation: http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=20;spage=2459;epage=2464;aulast=Si; https://doaj.org/toc/0366-6999

URL الوصول: https://doaj.org/article/4324100932df4c76bb73abf090748225

المؤلفون: Satoshi Hibino, Kandai Nozu, Kazuki Tanaka, Kazumoto Iijima, Naoya Fujita, Satoshi Yamakawa, Naoya Morisada, Asami Takeda

المصدر: Internal Medicine. 59:1735-1738

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Primary Focal Segmental Glomerulosclerosis, business.industry, General Medicine, Gene mutation, Medullary cystic kidney disease, medicine.disease, End stage renal disease, Ciliopathy, Focal segmental glomerulosclerosis, Nephronophthisis, Internal Medicine, medicine, Polycystic kidney disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7845b0ccd5a821f703b502db3e9bceb2
https://doi.org/10.2169/internalmedicine.4266-19

المؤلفون: F Najafi

المصدر: Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 18, Iss 6, Pp 570-577 (2011)

مصطلحات موضوعية: Senior Loken Syndrome, Medullary cystic kidney disease, Kindney Faliure, Chronic, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://85.185.157.11:6280/jssu/browse.php?a_id=1336&slc_lang=en&sid=1&ftxt=1; https://doaj.org/toc/2228-5741; https://doaj.org/toc/2228-5733

URL الوصول: https://doaj.org/article/52a0949586934721a8ba17cdb95ab4c6

المؤلفون: Kirsty M. Rooney, Susan J. Kimber, Adrian S. Woolf

المصدر: Rooney, K, Woolf, A S & Kimber, S 2021, ' Towards modelling genetic kidney diseases with human pluripotent stem cells ', Nephron, pp. 12 . https://doi.org/10.1159/000514018

مصطلحات موضوعية: Pluripotent Stem Cells, Kidney, education.field_of_study, urogenital system, business.industry, Population, Renal function, medicine.disease, Medullary cystic kidney disease, Bioinformatics, medicine.anatomical_structure, medicine, Polycystic kidney disease, Humans, Genetic Predisposition to Disease, Kidney Diseases, Stem cell, education, business, Induced pluripotent stem cell, Kidney disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d783b654e6edd4d802c5a916d8fb3dd
https://pubmed.ncbi.nlm.nih.gov/33774632

المؤلفون: Gilbert Whang, Hisham Tchelepi

المصدر: Ultrasound Quarterly. 34:288-291

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Medullary cavity, 030232 urology & nephrology, Disease, 030204 cardiovascular system & hematology, Kidney, urologic and male genital diseases, Medullary cystic kidney disease, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Pathognomonic, medicine, Renal medulla, Humans, Radiology, Nuclear Medicine and imaging, Ultrasonography, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Polycystic Kidney, Autosomal Dominant, medicine.disease, Magnetic Resonance Imaging, Transplantation, medicine.anatomical_structure, Tubulointerstitial fibrosis, Tomography, X-Ray Computed, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdee721b14b55b13e88720cad7339091
https://doi.org/10.1097/ruq.0000000000000366

المؤلفون: Martina Živná, Helena Hůlková, Kisra Anis, Belinda Jim, Anthony J. Bleyer, Samuel Mon-Wei Yu, Leal Herlitz, Glen S. Markowitz

المصدر: American Journal of Kidney Diseases. 71:495-500

مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Biopsy, Genetic counseling, DNA Mutational Analysis, 030232 urology & nephrology, Renal function, Disease, Kidney, Medullary cystic kidney disease, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Ultrasonography, Genetic testing, medicine.diagnostic_test, urogenital system, business.industry, Mucin-1, DNA, Polycystic Kidney, Autosomal Dominant, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Mutation, Female, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f71ac7211e0b9a58fcd69ebe45bd901
https://doi.org/10.1053/j.ajkd.2017.08.024

المؤلفون: Atsunori Yoshino, Ryo Koda, Shinya Kawamoto, Tetsuro Takeda, Yoshihiko Ueda

المصدر: Internal Medicine. 2016, 55(20):3001

المؤلفون: Timothy A. Sutton, Rebecca P. Hughey, Mohammad M. Al-bataineh

المصدر: Current Opinion in Nephrology and Hypertension. 26:384-391

مصطلحات موضوعية: 0301 basic medicine, TRPV5, Galectins, TRPV Cation Channels, Kidney, Medullary cystic kidney disease, Article, 03 medical and health sciences, Ischemia, Internal Medicine, medicine, Animals, Humans, Renal Insufficiency, Chronic, beta Catenin, MUC1, Chemistry, Cell Membrane, Mucin-1, Mucin, Acute kidney injury, Kidney metabolism, Water-Electrolyte Balance, Hypoxia-Inducible Factor 1, alpha Subunit, Polycystic Kidney, Autosomal Dominant, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Cancer research, Signal Transduction, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4c7b8f3aa2a70e0c9b7e190081091f1
https://doi.org/10.1097/mnh.0000000000000350

المؤلفون: Gary Thomas, Arthur L. Horwich

المصدر: Trends Mol Med

مصطلحات موضوعية: 0301 basic medicine, Protein Folding, Drug Evaluation, Preclinical, Biology, Medullary cystic kidney disease, Endoplasmic Reticulum, Kidney, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, medicine, Animals, Humans, Molecular Biology, MUC1, Mucin-1, Kidney metabolism, Frameshifting, Ribosomal, Kidney Diseases, Cystic, medicine.disease, Chemical screening, 030104 developmental biology, Secretory protein, Toxic proteins, Cancer research, Unfolded Protein Response, Molecular Medicine, 030217 neurology & neurosurgery, Intracellular, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c09e8121a33b87c150d985036dd49d
https://pubmed.ncbi.nlm.nih.gov/31521560

المؤلفون: Akihiro Kuma, Haruhiko Abe, Kazumoto Iijima, Masaaki Takeuchi, Masahito Tamura, Nana Ishimatsu, Naoya Morisada, Ryota Serino, Shingo Ishimori, Sohsuke Yamada, Tetsu Miyamoto, Yutaka Otsuji

المصدر: Internal Medicine. 2015, 54(6):631

المؤلفون: Todd A. Carter, Matthew DeFelice, Heidi L. Rehm, Stanislav Kmoch, Lucienne Ronco, Brendan Blumenstiel, Niall J. Lennon, Stacey Gabriel, Kendrah Kidd, Andreas Gnirke, Ozge Birsoy, Eric S. Lander, Anthony J. Bleyer

المساهمون: Massachusetts Institute of Technology. Department of Biology, Lander, Eric Steven

المصدر: Elsevier

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Genotype, 030232 urology & nephrology, Disease, Biology, medicine.disease_cause, Medullary cystic kidney disease, Sensitivity and Specificity, Mass Spectrometry, Workflow, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, MUC1, Genetics, Mutation, Mucin-1, Mucin, Reproducibility of Results, Polycystic Kidney, Autosomal Dominant, medicine.disease, Variable number tandem repeat, 030104 developmental biology, Molecular Diagnostic Techniques, Molecular Medicine, Kidney disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08e33aaa78e8ae8e58fec44839d5f345

المؤلفون: John A. Sayer

المصدر: Oxford Medicine

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Nephronophthisis, Medicine, business, Medullary cystic kidney disease, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1a19f3d121a0d098ef1223d3c550cdc
https://doi.org/10.1093/med/9780199592548.003.0316_update_001

المؤلفون: Takuhito Nagai, Yoshimitsu Gotoh, 後藤 芳光, 永井 琢人

المصدر: 日本小児腎臓病学会雑誌 / Japanese journal of pediatric nephrology. 2007, 20(1):38

المؤلفون: Anneke P. Bech, Jack F.M. Wetzels, Jacobien C. Verhave, Tom Nijenhuis

المصدر: Journal of the American Society of Nephrology, 27, 345-53
Journal of the American Society of Nephrology, 27, 2, pp. 345-53

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Nephrology, Pathology, medicine.medical_specialty, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Medullary cystic kidney disease, urologic and male genital diseases, Diabetic nephropathy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Up Front Matters, Diabetes mellitus, Internal medicine, medicine, Humans, Diabetic Nephropathies, Renal Insufficiency, Chronic, Hepatocyte Nuclear Factor 1-beta, Cystic kidney, Kidney, business.industry, General Medicine, Kidney Diseases, Cystic, Middle Aged, medicine.disease, Phenotype, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, medicine.anatomical_structure, Mutation, Female, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e129054ed2378c9a5ec79626089edf5f
https://hdl.handle.net/2066/172667

المؤلفون: Juan Gómez, Belén Alonso, Carmen Díaz-Corte, Sara Iglesias, Francisco V. Álvarez, Salvador Tranche, Eliecer Coto

المصدر: Molecular Biology Reports. 42:1353-1358

مصطلحات موضوعية: Male, medicine.medical_specialty, Tamm–Horsfall protein, DNA Mutational Analysis, Renal function, Single-nucleotide polymorphism, Medullary cystic kidney disease, White People, Internal medicine, Uromodulin, Genetics, medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Allele, Molecular Biology, Alleles, Genetic Association Studies, Aged, Aged, 80 and over, Polymorphism, Genetic, biology, Age Factors, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, medicine.disease, Genotype frequency, Endocrinology, biology.protein, Female, Gene polymorphism, Glomerular Filtration Rate, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9b69071a4af1e8b153d1ab530500baf
https://doi.org/10.1007/s11033-015-3883-9

المؤلفون: Gorka Larrinaga, Naoto Kuroda, José I. López, Javier C. Angulo

المصدر: Pathology - Research and Practice. 211:271-280

مصطلحات موضوعية: Kidney Medulla, Kidney, Pathology, medicine.medical_specialty, Carcinoma, Multicystic dysplastic kidney, Cell Biology, Chromophobe cell, Biology, medicine.disease, Medullary cystic kidney disease, Immunohistochemistry, Kidney Neoplasms, Pathology and Forensic Medicine, Collecting duct carcinoma, medicine.anatomical_structure, Dysplasia, medicine, Polycystic kidney disease, Renal medulla, Humans, Kidney Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a92dbdb6e6719ed6da99ee6bcb56e0
https://doi.org/10.1016/j.prp.2014.12.009

المؤلفون: Masayuki Iyoda, Taihei Suzuki, Yutaka Yamaguchi, Takanori Shibata

المصدر: Pathology International. 65:379-382

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Renal function, General Medicine, Medullary cystic kidney disease, medicine.disease, Pathology and Forensic Medicine, Nephropathy, Pathogenesis, Cystic kidney disease, Medicine, Renal biopsy, Hemodialysis, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c17e9e7a65ce6789176028a89060c65
https://doi.org/10.1111/pin.12292

المؤلفون: Akira Shimizu, Hideo Yasuda, Naro Ohashi, Shinsuke Isobe, Takamasa Iwakura, Tomoyuki Fujikura, Yoshihide Fujigaki, Yoshimichi Yamashiro

المصدر: Internal Medicine. :2866-23

المؤلفون: Tarun Sharma, Stephen H. Tsang, Alicia R. P. Aycinena

المصدر: Advances in Experimental Medicine and Biology ISBN: 9783319950457

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, Photophobia, business.industry, Senior–Løken syndrome, medicine.disease, Medullary cystic kidney disease, Dermatology, eye diseases, 03 medical and health sciences, Cystic kidney disease, Ciliopathy, 030104 developmental biology, Nephronophthisis, Retinitis pigmentosa, medicine, sense organs, medicine.symptom, business, Retinopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60d268f6fa81b5d2c151dd0fc4c286da
https://doi.org/10.1007/978-3-319-95046-4_34

المؤلفون: J. Michael Edwardson, Fiona E. Karet Frankl, Richard Sandford, Andrew P. Stewart

المصدر: FEBS Letters. 589:89-93

مصطلحات موضوعية: Male, Tamm–Horsfall protein, Protein polymerization, Cell, Mutant, Mutation, Missense, Biophysics, medicine.disease_cause, Medullary cystic kidney disease, Protein Aggregation, Pathological, Biochemistry, Atomic force microscopy, Structural Biology, Uromodulin, Genetics, medicine, Humans, Molecular Biology, Mutation, biology, Chemistry, Genetic Diseases, Inborn, Cell Biology, Transfection, medicine.disease, Molecular biology, Nephropathy, Protein Transport, HEK293 Cells, medicine.anatomical_structure, Amino Acid Substitution, biology.protein, Female, Kidney Diseases, Intracellular

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd73b657c045b00bc7ff045688515327
https://doi.org/10.1016/j.febslet.2014.11.029