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1دورية أكاديمية
المؤلفون: Giovanna Priante, Monica Ceol, Lisa Gianesello, Dario Bizzotto, Paola Braghetta, Lorenzo Arcangelo Calò, Dorella Del Prete, Franca Anglani
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 2, p 1313 (2023)
مصطلحات موضوعية: Dent disease, ClC-5, glomerulosclerosis, podocytes, CRISPR/Cas9 gene editing, nephrin, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/24/2/1313Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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2دورية أكاديمية
المؤلفون: Lisa Gianesello, Jennifer Arroyo, Dorella Del Prete, Giovanna Priante, Monica Ceol, Peter C. Harris, John C. Lieske, Franca Anglani
المصدر: Genes, Vol 12, Iss 10, p 1597 (2021)
مصطلحات موضوعية: Dent disease 2, OCRL mutations, OCRL domains, genotype–phenotype correlations, Lowe syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Lisa Gianesello, Giovanna Priante, Monica Ceol, Claudia M. Radu, Moin A. Saleem, Paolo Simioni, Liliana Terrin, Franca Anglani, Dorella Del Prete
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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4دورية أكاديمية
المؤلفون: Lisa Gianesello, Monica Ceol, Loris Bertoldi, Liliana Terrin, Giovanna Priante, Luisa Murer, Licia Peruzzi, Mario Giordano, Fabio Paglialonga, Vincenzo Cantaluppi, Claudio Musetti, Giorgio Valle, Dorella Del Prete, Franca Anglani, Dent Disease Italian Network
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 2, p 516 (2020)
مصطلحات موضوعية: dent disease, clcn5 gene mutations, proximal tubular clc-5 expression, megalin, cubilin, kidney biopsies, immunohistochemistry, whole exome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 14, p 3598 (2019)
مصطلحات موضوعية: apoptosis, necrosis, regulated necrosis, kidney injury, tubular injury, glomerular injury, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6مؤتمر
المؤلفون: Lisa Gianesello, Monica Ceol, Hernán Trimarchi, Giovanna Priante, Annalisa Angelini, Marny Fedrigo, Alejandro Iotti, Franca Anglani, Dorella Del Prete
المساهمون: Gianesello, Lisa, Ceol, Monica, Trimarchi, Hernán, Priante, Giovanna, Angelini, Annalisa, Fedrigo, Marny, Iotti, Alejandro, Anglani, Franca, DEL PRETE, Dorella
وصف الملف: STAMPA
العلاقة: ispartofbook:31st European Renal Cell Study Group; 31st European Renal Cell Study Group; http://hdl.handle.net/11577/3316628Test
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7دورية أكاديمية
المؤلفون: Giovanna Priante, Federica Mezzabotta, Rosalba Cristofaro, Federica Quaggio, Monica Ceol, Lisa Gianesello, Dorella Del Prete, Franca Anglani
المساهمون: Priante, Giovanna, Mezzabotta, Federica, Cristofaro, Rosalba, Quaggio, Federica, Ceol, Monica, Gianesello, Lisa, DEL PRETE, Dorella, Anglani, Franca
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31197147; info:eu-repo/semantics/altIdentifier/wos/WOS:000472436800002; journal:CELL DEATH & DISEASE; http://hdl.handle.net/11577/3302911Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067286375
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8
المؤلفون: Dorella Del Prete, Lisa Gianesello, Alejandro Iotti, Monica Ceol, Giovanna Priante, Hernán Trimarchi
المصدر: Journal of Nephrology. 34:1307-1314
مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, 030232 urology & nephrology, Podocyte, Down-Regulation, Receptors, Cell Surface, 030204 cardiovascular system & hematology, urologic and male genital diseases, Nephropathy, 03 medical and health sciences, Megalin, 0302 clinical medicine, Chloride Channels, Chronic kidney disease, Internal medicine, Podocin, Humans, Medicine, Enzyme Replacement Therapy, biology, urogenital system, business.industry, End-stage kidney disease, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Enzyme replacement therapy, Middle Aged, medicine.disease, Cubilin, Fabry disease, Proteinuria, Low Density Lipoprotein Receptor-Related Protein-2, Endocrinology, medicine.anatomical_structure, biology.protein, CLC-5, Fabry Disease, Female, business, Synaptopodin, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4a48a4ed35c4de7f0d00251af67570Test
https://doi.org/10.1007/s40620-020-00835-9Test -
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المؤلفون: Monica Ceol, Enrica Tosetto, Dorella Del Prete, Lisa Gianesello, Giovanna Priante, Franca Anglani
المصدر: J Investig Med
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Untranslated region, Five prime untranslated region, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Gene expression, medicine, Messenger RNA, isoforms, Glomerulonephritis, Promoter, General Medicine, medicine.disease, Molecular biology, Housekeeping gene, 030104 developmental biology, 5'UTR, 030220 oncology & carcinogenesis, gene expression, CLCN5, proteinuria
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a01dda91b2629157dbc98ac2bbbe65Test
https://doi.org/10.1136/jim-2019-001205Test -
10
المؤلفون: Monica Ceol, John C. Lieske, Peter C. Harris, Jennifer Arroyo, Franca Anglani, Lisa Gianesello, Giovanna Priante, Dorella Del Prete
المصدر: Genes
Genes; Volume 12; Issue 10; Pages: 1597
Genes, Vol 12, Iss 1597, p 1597 (2021)مصطلحات موضوعية: Male, Adolescent, Genotype, Mutation, Missense, Dent Disease, QH426-470, medicine.disease_cause, Kidney, Nephrolithiasis, Article, genotype–phenotype correlations, Tubulopathy, Dent disease 2, OCRL mutations, OCRL domains, Lowe syndrome, Pleiotropism, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Genetic Association Studies, Mutation, biology, CLCN5, Genetic Diseases, X-Linked, Genetic Pleiotropy, medicine.disease, Phosphoric Monoester Hydrolases, Oculocerebrorenal Syndrome, Phenotype, Biological Variation, Population, Child, Preschool, biology.protein, OCRL, Female
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24538e144b2bcff10823d1891f2a8f46Test
http://europepmc.org/articles/PMC8535715Test