المؤلفون: Schneider R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Mansour B; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Kolvenbach CM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Salmanullah D; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Lemberg K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Merz LM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA.; Department of Pediatrics, University Leipzig, Leipzig, Germany., Mertens ND; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Saida K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Yousef K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Franken GAC; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Bao A; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Yu S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Hölzel S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Nicolas-Frank C; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Steinsapir A; Deerfield Discovery and Development, Deerfield Management Company, L.P. (Series C), New York, USA., Goncalves KA; Deerfield Discovery and Development, Deerfield Management Company, L.P. (Series C), New York, USA., Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, USA. friedhelm.hildebrandt@childrens.harvard.edu.

المصدر: Journal of nephrology [J Nephrol] 2024 Jul 14. Date of Electronic Publication: 2024 Jul 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6059 (Electronic) Linking ISSN: 11218428 NLM ISO Abbreviation: J Nephrol Subsets: MEDLINE

المؤلفون: Lemberg K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Mertens ND; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yousef K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schneider R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Merz LM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Leipzig, Leipzig, Germany., Mansour B; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Salmanullah D; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kolvenbach CM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Medical Faculty, Institute of Anatomy, University of Bonn, Bonn, Germany., Saida K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yu S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hölzel S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Steinsapir A; Deerfield Discovery and Development, Deerfield Management Company, L.P. (Series C), New York, NY, USA., Goncalves KA; Deerfield Discovery and Development, Deerfield Management Company, L.P. (Series C), New York, NY, USA., Nicolas Frank C; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Franken GAC; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. friedhelm.hildebrandt@childrens.harvard.edu.

المصدر: Scientific reports [Sci Rep] 2024 Jul 10; Vol. 14 (1), pp. 15916. Date of Electronic Publication: 2024 Jul 10.

نوع المنشور: Journal Article

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: Nephrotic Syndrome*/genetics , Nephrotic Syndrome*/pathology , Disease Models, Animal* , Membrane Proteins*/genetics , Phenotype* , Mice, Knockout* , Podocytes*/metabolism , Podocytes*/pathology, Animals ; Mice ; Male ; Female ; Glomerular Basement Membrane/pathology

SCR Disease Name: Nephrosis, congenital

المؤلفون: Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Merz LM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.; Department of Pediatrics, University Leipzig, Leipzig, Germany., Saida K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Yu S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Salmanullah D; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Lemberg K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Mertens ND; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Mansour B; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Kolvenbach CM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Yousef K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Hölzel S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Braun A; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Franken GAC; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Goncalves KA; Deerfield Discovery and Development, Deerfield Management Company, L.P. (Series C), New York, New York, United States., Steinsapir A; Deerfield Discovery and Development, Deerfield Management Company, L.P. (Series C), New York, New York, United States., Endlich N; NIPOKA GmbH, Greifswald, Germany., Schneider R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

المصدر: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2024 May 01; Vol. 326 (5), pp. F780-F791. Date of Electronic Publication: 2024 Mar 14.

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

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901990 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1466 (Electronic) Linking ISSN: 15221466 NLM ISO Abbreviation: Am J Physiol Renal Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Proteins*/genetics , Membrane Proteins*/metabolism , Phenotype* , Mice, Knockout* , Nephrotic Syndrome*/genetics , Nephrotic Syndrome*/therapy , Podocytes*/metabolism, Animals ; Female ; Male ; Disease Models, Animal ; Genetic Therapy/methods ; Mice ; Genetic Vectors

المؤلفون: Pantel D; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Mertens ND; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Schneider R; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Hölzel S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Kari JA; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Desoky SE; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Shalaby MA; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA., Shril S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA. friedhelm.hildebrandt@childrens.harvard.edu.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Feb; Vol. 39 (2), pp. 455-461. Date of Electronic Publication: 2023 Sep 05.

نوع المنشور: Journal Article

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: Nephrotic Syndrome*/drug therapy , Nephrotic Syndrome*/genetics , Nephrotic Syndrome*/congenital, Adult ; Child ; Humans ; Young Adult ; DNA Copy Number Variations ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Homozygote ; Mutation ; Sequence Deletion

SCR Disease Name: Nephrosis, congenital

المؤلفون: Vöing K; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Michgehl U; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Mertens ND; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Picciotto C; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Maywald ML; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Goretzko J; Research Group Regulatory Mechanisms of Inflammation, Institute of Medical Biochemistry, Centre for Molecular Biology of Inflammation, University of Muenster, Muenster, Germany., Waimann S; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Gilhaus K; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Rogg M; Institute of Surgical Pathology, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Freiburg Institute for Advanced Studies (FRIAS), University of Freiburg, Freiburg, Germany., Schell C; Institute of Surgical Pathology, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.; Freiburg Institute for Advanced Studies (FRIAS), University of Freiburg, Freiburg, Germany., Klingauf J; Institute of Medical Physics and Biophysics, University of Muenster, Muenster, Germany., Tsytsyura Y; Institute of Medical Physics and Biophysics, University of Muenster, Muenster, Germany., Hansen U; Institute for Musculoskeletal Medicine (IMM), University of Muenster, Muenster, Germany., van Marck V; Department of Pathology, University Hospital Muenster Muenster, Germany., Edinger AL; Department of Developmental & Cell Biology, University of California, Irvine, California., Vollenbröker B; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Rescher U; Research Group Regulatory Mechanisms of Inflammation, Institute of Medical Biochemistry, Centre for Molecular Biology of Inflammation, University of Muenster, Muenster, Germany., Braun DA; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., George B; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Weide T; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany., Pavenstädt H; Department of Internal Medicine and Nephrology, University Hospital of Münster, Medical Clinic D, Munster, Germany.

المصدر: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2023 Jul 01; Vol. 34 (7), pp. 1191-1206. Date of Electronic Publication: 2023 Apr 05.

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

بيانات الدورية: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Glomerulus*/pathology , Podocytes*/metabolism, Animals ; Mice ; Humans ; Endosomes ; Drosophila ; Kidney ; Mammals

المؤلفون: Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Zheng B; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China., Merz LM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, University Hospital Leipzig, Leipzig, Germany., Mertens ND; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Mansour B; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Wang C; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schneider S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schierbaum L; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Pantel D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Chen J; Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bello JO; Department of Surgery, University of Ilorin Teaching Hospital, Ilorin, Nigeria.; Department of Surgery, College of Medicine, Nursing & Health Sciences, Fiji National University, Suva, Fiji., Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1355-1359. Date of Electronic Publication: 2023 Jan 24.

نوع المنشور: Case Reports; Research Support, N.I.H., Extramural; 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: Urogenital Abnormalities*/genetics , Urinary Tract*/metabolism , Vesico-Ureteral Reflux*/genetics, Child ; Humans ; Kidney/abnormalities ; Proto-Oncogene Proteins c-ets/genetics ; Proto-Oncogene Proteins c-ets/metabolism

SCR Disease Name: Cakut