المؤلفون: Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::98293f0999c69ed9d20eac332c60a6ef

المؤلفون: Slaats GG; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands., Chen J; Department of Development and Regeneration, Cluster Woman and Child, Laboratory of Pediatric Nephrology, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Levtchenko E; Department of Development and Regeneration, Cluster Woman and Child, Laboratory of Pediatric Nephrology, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Verhaar MC; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands., Arcolino FO; Department of Development and Regeneration, Cluster Woman and Child, Laboratory of Pediatric Nephrology, KU Leuven, Leuven, Belgium. f.oliveiraarcolino@amsterdamumc.nl.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands. f.oliveiraarcolino@amsterdamumc.nl.; Emma Center for Personalized Medicine, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands. f.oliveiraarcolino@amsterdamumc.nl.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Feb; Vol. 39 (2), pp. 383-395. Date of Electronic Publication: 2023 Jul 03.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Kidney* , Nephrology*, Child ; Humans ; Regenerative Medicine/methods ; Regeneration ; Stem Cells/metabolism

المؤلفون: Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Chen C; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Stallworth J; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Turner JL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Slaats GG; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands., Hawks AL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Mabillard H; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Srikanth S; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Flanagan-Steet H; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Silver J; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Lerner-Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Morel C; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Mighton C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Sleutels F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Ham T; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dorresteijn EM; Department of Pediatric Nephrology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dahan K; Institute Pathology and Genetic, Center of Human Genetics, Charleroi, Belgium., Demoulin N; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Goffin EJ; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Olinger E; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, Utrecht, the Netherlands., Obeidová L; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Seeman T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Pediatrics, University Hospital Ostrava, Ostrava, Czech Republic; Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic., Stone HK; Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Kerecuk L; Birmingham Women's and Children's National Health Services (NHS) Foundation Trust, National Institute for Health Care and Research (NIHR) Clinical Research Network (CRN) West Midlands, Birmingham, UK., Gurgu M; Fundeni Clinical Institute, Bucharest, Romania., Yousef Yengej FA; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Ammerlaan CME; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Rookmaaker MB; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands., Hanna C; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Rogers RC; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Peters E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Sayer JA; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK; National Institute for Health and Care Research (NIHR) Biomedical Research Centre, Newcastle, UK., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris PC; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Ling K; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA. Electronic address: Ling.Kun@mayo.edu., Mason JM; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA. Electronic address: jmason4@clemson.edu., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: A.vanEerde@umcutrecht.nl., Steet R; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA. Electronic address: rsteet@ggc.org.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Kidney international [Kidney Int] 2023 Nov; Vol. 104 (5), pp. 995-1007. Date of Electronic Publication: 2023 Aug 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney Diseases*/genetics , Polycystic Kidney, Autosomal Dominant*/pathology, Animals ; Humans ; Infant, Newborn ; Mice ; Carrier Proteins/metabolism ; Cilia/pathology ; Kidney/metabolism ; Mutation ; NIMA-Related Kinases/genetics ; NIMA-Related Kinases/metabolism ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Serine/genetics ; Serine/metabolism ; TRPP Cation Channels/genetics ; TRPP Cation Channels/metabolism

المؤلفون: Kieckhöfer E; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Slaats GG; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Ebert LK; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Albert MC; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Institute for Molecular Immunology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Dafinger C; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Kashkar H; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Institute for Molecular Immunology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Benzing T; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Schermer B; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. bernhard.schermer@uk-koeln.de.; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. bernhard.schermer@uk-koeln.de.

المصدر: Cell death discovery [Cell Death Discov] 2022 Dec 02; Vol. 8 (1), pp. 477. Date of Electronic Publication: 2022 Dec 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE

المؤلفون: Ruiter FAA; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Complex Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands.; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Cell Biology-Inspired Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands., Morgan FLC; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Complex Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands., Roumans N; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Cell Biology-Inspired Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands., Schumacher A; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Cell Biology-Inspired Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands., Slaats GG; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, 50937, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, 50931, Germany., Moroni L; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Complex Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands., LaPointe VLS; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Cell Biology-Inspired Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands., Baker MB; MERLN Institute for Technology-Inspired Regenerative Medicine, Department of Complex Tissue Engineering, Maastricht University, Universiteitssingel 40, Maastricht, 6229 ER, the Netherlands.

المصدر: Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2022 Jul; Vol. 9 (20), pp. e2200543. Date of Electronic Publication: 2022 May 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: WILEY-VCH Country of Publication: Germany NLM ID: 101664569 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2198-3844 (Electronic) Linking ISSN: 21983844 NLM ISO Abbreviation: Adv Sci (Weinh) Subsets: MEDLINE

مواضيع طبية MeSH: Organoids* , Pluripotent Stem Cells*, Epithelial-Mesenchymal Transition ; Hydrogels ; Kidney

المؤلفون: van Dam TJP; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Theoretical Biology and Bioinformatics, Science faculty, Utrecht University, Utrecht, the Netherlands., Kennedy J; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland., van der Lee R; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Wunderlich KA; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Rix S; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Dougherty GW; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Lambacher NJ; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Li C; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Jensen VL; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Leroux MR; Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Hjeij R; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Horn N; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Texier Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Wissinger Y; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., van Reeuwijk J; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Wheway G; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Knapp B; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Scheel JF; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics, Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Mans DA; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Képès F; Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France., Slaats GG; Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands., Toedt G; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Kremer H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Szymanska K; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Koutroumpas K; Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France., Ueffing M; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Nguyen TT; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Letteboer SJF; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Oud MM; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., van Beersum SEC; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Schmidts M; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany., Beales PL; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Lu Q; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Bioquant/Cell Networks, Heidelberg, Germany., Giles RH; Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands., Szklarczyk R; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands., Russell RB; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Bioquant/Cell Networks, Heidelberg, Germany., Gibson TJ; Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Johnson CA; Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Blacque OE; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland., Wolfrum U; Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany., Boldt K; Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany., Roepman R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Hernandez-Hernandez V; Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.

المصدر: PloS one [PLoS One] 2019 May 16; Vol. 14 (5), pp. e0216705. Date of Electronic Publication: 2019 May 16 (Print Publication: 2019).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Genomics*, Cilia/*genetics, Animals ; Bayes Theorem ; Caenorhabditis elegans/cytology ; Caenorhabditis elegans/genetics ; Molecular Sequence Annotation ; Phenotype ; Reproducibility of Results ; Sensory Receptor Cells/metabolism ; Zebrafish/genetics

المؤلفون: Jain M; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Kaiser RWJ; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Bohl K; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hoehne M; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Systems Biology of Ageing Cologne (Sybacol), University of Cologne, Cologne, Germany., Göbel H; Department of Pathology, University of Cologne, Cologne, Germany., Bartram MP; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Habbig S; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Department of Pediatrics, University Hospital of Cologne, Cologne, Germany., Müller RU; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Systems Biology of Ageing Cologne (Sybacol), University of Cologne, Cologne, Germany., Fogo AB; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Benzing T; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Systems Biology of Ageing Cologne (Sybacol), University of Cologne, Cologne, Germany., Schermer B; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Systems Biology of Ageing Cologne (Sybacol), University of Cologne, Cologne, Germany., Höpker K; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Slaats GG; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address: gisela.slaats@uk-koeln.de.

المصدر: Kidney international [Kidney Int] 2019 Apr; Vol. 95 (4), pp. 846-858. Date of Electronic Publication: 2019 Feb 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Video-Audio Media

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: DNA Breaks, Double-Stranded*, Apoptosis Regulatory Proteins/*metabolism , Cilia/*pathology , Kidney Diseases, Cystic/*genetics , Kidney Tubules/*pathology , Nuclear Proteins/*metabolism, Animals ; Apoptosis/genetics ; Apoptosis Regulatory Proteins/genetics ; Biopsy ; Cell Line, Tumor ; Cilia/genetics ; Disease Models, Animal ; Epithelial Cells/cytology ; Epithelial Cells/pathology ; Fibrosis ; Humans ; Kidney Diseases, Cystic/pathology ; Kidney Tubules/cytology ; Mice ; Mice, Knockout ; Nuclear Proteins/genetics ; Primary Cell Culture ; R-Loop Structures/genetics ; Repressor Proteins/metabolism ; Signal Transduction/genetics

المؤلفون: Slaats GG; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Braun F; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hoehne M; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Systems Biology of Aging, University of Cologne, Cologne, Germany., Frech LE; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Blomberg L; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Benzing T; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Systems Biology of Aging, University of Cologne, Cologne, Germany., Schermer B; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Systems Biology of Aging, University of Cologne, Cologne, Germany., Rinschen MM; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Kurschat CE; Department II of Internal Medicine Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany. christine.kurschat@uk-koeln.de.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany. christine.kurschat@uk-koeln.de.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. christine.kurschat@uk-koeln.de.

المصدر: Scientific reports [Sci Rep] 2018 Jul 23; Vol. 8 (1), pp. 11042. Date of Electronic Publication: 2018 Jul 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Fabry Disease/*diagnosis , Fabry Disease/*urine , Urine/*cytology, Adult ; Aged ; Fabry Disease/metabolism ; Female ; Humans ; Male ; Middle Aged ; Proteomics/methods ; Trihexosylceramides/metabolism ; alpha-Galactosidase/metabolism

المؤلفون: Stokman MF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Oud MM; Department of Human Genetics, Radboud Insitute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., van Binsbergen E; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Nicolaou N; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Renkema KY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Nijman IJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Roepman R; Department of Human Genetics, Radboud Insitute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Arts HH; Department of Human Genetics, Radboud Insitute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.; Department of Biochemistry, University of Western Ontario, London, Canada., Knoers NV; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., van Haelst MM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jun; Vol. 170 (6), pp. 1566-9. Date of Electronic Publication: 2016 Feb 19.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, Pair 14* , Phenotype*, Carrier Proteins/*genetics , Heart Defects, Congenital/*genetics , Intellectual Disability/*genetics , Myopia/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Child ; Comparative Genomic Hybridization ; Exome ; Female ; Fibroblasts/metabolism ; Gene Expression ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans

المؤلفون: Slaats GG; Department of Nephrology and Hypertension, F03.233, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Lilien MR; Department of Pediatric Nephrology, University Medical Center Utrecht, Utrecht, The Netherlands., Giles RH; Department of Nephrology and Hypertension, F03.233, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands. r.giles@umcutrecht.nl.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2016 Apr; Vol. 31 (4), pp. 545-54. Date of Electronic Publication: 2015 Jul 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Ciliopathies/*therapy , Kidney/*drug effects , Kidney Diseases, Cystic/*congenital , Urological Agents/*therapeutic use, Animals ; Ciliopathies/complications ; Ciliopathies/diagnosis ; Fibrosis ; Humans ; Kidney/metabolism ; Kidney/pathology ; Kidney Diseases, Cystic/complications ; Kidney Diseases, Cystic/diagnosis ; Kidney Diseases, Cystic/drug therapy ; Kidney Diseases, Cystic/metabolism ; Kidney Failure, Chronic/etiology ; Kidney Failure, Chronic/prevention & control ; Microtubules/drug effects ; Microtubules/metabolism ; Microtubules/pathology ; Paclitaxel/therapeutic use ; Risk Factors ; Signal Transduction/drug effects ; Treatment Outcome ; Urological Agents/adverse effects ; Urological Agents/pharmacokinetics

SCR Disease Name: Nephronophthisis, familial juvenile