المؤلفون: Leticia L. Niborski, Mélanie Paces-Fessy, Pierbruno Ricci, Adeline Bourgeois, Pedro Magalhães, Maria Kuzma-Kuzniarska, Celine Lesaulnier, Martin Reczko, Edwige Declercq, Petra Zürbig, Alain Doucet, Muriel Umbhauer, Silvia Cereghini

المصدر: Disease Models & Mechanisms, Vol 14, Iss 5 (2021)

مصطلحات موضوعية: hnf1b transcription factor, rcad syndrome, gene dosage, glomerular and proximal tubule cysts, mouse models, transcriptomics, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/14/5/dmm047498; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/d6e03fcf8b49477c9eccaaeefc233746

المؤلفون: Roberta Milone, Raffaella Tancredi, Angela Cosenza, Anna Rita Ferrari, Roberta Scalise, Giovanni Cioni, Roberta Battini

المصدر: Genes, Vol 12, Iss 11, p 1660 (2021)

مصطلحات موضوعية: autism spectrum disorder, intellectual disability, recurrent CNVs, psychiatric disorders, RCAD, epilepsy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/11/1660; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/b366a990ff2246878dc9fb23b00cdd86

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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: Alain Doucet, Adeline Bourgeois, Celine Lesaulnier, Edwige Declercq, Martin Reczko, Silvia Cereghini, Petra Zürbig, Maria Kuzma-Kuzniarska, Muriel Umbhauer, Leticia L. Niborski, Mélanie Paces-Fessy, Pierbruno Ricci, Pedro Magalhães

المساهمون: Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie du Développement [Paris] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hannover Medical School [Hannover] (MHH), Biomedical Sciences Research Centre Alexander Fleming [Vari, Greece] (BSRC), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Physiologie rénale et tubulopathies = Renal Physiology and tubulopathies [CRC], Centre National de la Recherche Scientifique (CNRS)-Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP)-École pratique des hautes études (EPHE), Laboratoire de Biologie du Développement [IBPS] (LBD), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École pratique des hautes études (EPHE), Gestionnaire, Hal Sorbonne Université

المصدر: Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 14, Iss 5 (2021)
Disease Models & Mechanisms, Cambridge Company of Biologists, 2021, pp.dmm.047498. ⟨10.1242/dmm.047498⟩
Disease Models & Mechanisms, 2021, pp.dmm.047498. ⟨10.1242/dmm.047498⟩

مصطلحات موضوعية: 0301 basic medicine, Pathology, [SDV]Life Sciences [q-bio], Kidney Glomerulus, 030232 urology & nephrology, Medicine (miscellaneous), Haploinsufficiency, Hydronephrosis, medicine.disease_cause, Mouse models, Severity of Illness Index, HNF1B transcription factor, Pathogenesis, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Central Nervous System Diseases, RB1-214, Glomerular and proximal tubule cysts, Mutation, Cell Polarity, Kidney Diseases, Cystic, HNF1B, Gene-dosage, Phenotype, 3. Good health, RCAD syndrome, [SDV] Life Sciences [q-bio], Kidney Tubules, Medicine, Research Article, Gene dosage, medicine.medical_specialty, Heterozygote, Urinary system, RNA Splicing, Neuroscience (miscellaneous), Biology, General Biochemistry, Genetics and Molecular Biology, Diabetes Mellitus, Experimental, 03 medical and health sciences, medicine, Developmental Disorders, Animals, Humans, Cilia, Genes, Developmental, RNA, Messenger, Transcriptomics, Dental Enamel, Hepatocyte Nuclear Factor 1-beta, Gene Expression Profiling, Nephrons, medicine.disease, Embryo, Mammalian, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Animals, Newborn, Diabetes Mellitus, Type 2, Dysplasia, Metabolic Disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cce66a9e4d43e609ac3b8038cfeb141
http://europepmc.org/articles/PMC8126479

المؤلفون: Torell, Frida, Bennet, Kate, Cereghini, Silvia, Fabre, Mélanie, Rännar, Stefan, Lundstedt-Enkel, Katrin, Moritz, Thomas, Haumaitre, Cécile, Trygg, Johan, Lundstedt, Torbjörn

المصدر: Journal of Proteome Research. 17(7):2293-2306

مصطلحات موضوعية: HNF1B-associated diseases, metabolomics, OPLS-DA, multiorgan samples, MODY5, RCAD, mouse model

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-150378

المؤلفون: Harries, L. W., Ellard, S., Jones, R. W. A., Hattersley, A. T., Bingham, C.

المصدر: Diabetologia: Clinical and Experimental Diabetes and Metabolism. May 2004 47(5):937-942

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المؤلفون: Woolf, A. S., Feather, Sally A., Bingham, Coralie

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. April 2002 17(4):229-235

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