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: Bosman W; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Franken GAC; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., de Las Heras J; Division of Pediatric Metabolism, Cruces University Hospital, CIBER-ER, Metab-ERN, University of the Basque Country (UPV/EHU), Biobizkaia Health Research Institute, Barakaldo, Spain., Madariaga L; Pediatric Nephrology Department, Cruces University Hospital, CIBERDEM, CIBER-ER, Endo-ERN, Biocruces Bizkaia Health Research Institute and University of the Basque Country (UPV/EHU), Barakaldo, Spain., Barakat TS; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Oostenbrink R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of General Pediatrics, Erasmus Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands., van Slegtenhorst M; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Perdomo-Ramírez A; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Claverie-Martín F; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vargas-Poussou R; Service de medecine genomique des maladies rares, AP-HP, universite Paris Cité, Paris, France.; Centre de reference des maladies renales hereditaires de l'enfant et de l'adulte MARHEA, hopital Européen Georges Pompidou, Paris, France.; CNRS, centre de recherche des Cordeliers, Inserm UMRS 1138, Sorbonne universite, universite Paris Cité, Paris, France., Dubourg LD; Hôpital Édouard Herriot, Hospices civils de Lyon, service de nephrologie, dialyse, hypertension et exploration fonctionnelle renale, Lyon, France.; Centre de reference des maladies renales rares et phosphocalciques, Nephrogones, Hôpital Femme-Mère-Enfant Bron, Bron, France.; Faculté de medecine Lyon est, Université Claude Bernard Lyon 1, Villeurbanne, France., González-Recio I; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain., Martínez-Cruz LA; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain., de Baaij JHF; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Hoenderop JGJ; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands. joost.hoenderop@radboudumc.nl.

المصدر: Scientific reports [Sci Rep] 2024 Mar 22; Vol. 14 (1), pp. 6917. Date of Electronic Publication: 2024 Mar 22.

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: Intellectual Disability*/genetics , Cation Transport Proteins*/genetics, Humans ; Magnesium/metabolism ; Seizures/genetics ; Phenotype

المؤلفون: Ilenwabor BP; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Sponder G; Institute of Veterinary Physiology, Freie Universität Berlin, Berlin, Germany., Bos C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Racay P; Department of Medical Biochemistry, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia.; Biomedical Center Martin, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia., Kolisek M; Biomedical Center Martin, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2022 Nov 01; Vol. 323 (5), pp. F553-F563. Date of Electronic Publication: 2022 Sep 01.

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: Magnesium*/metabolism , Cation Transport Proteins*/genetics, Animals ; Mice ; Cations ; Cyclins/metabolism ; Homeostasis ; Kidney Tubules, Distal/metabolism ; Mice, Knockout ; Mice, Transgenic ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism

المؤلفون: Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Huynen MA; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Martínez-Cruz LA; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, 48160, Bizkaia, Spain., Bindels RJM; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. jeroen.debaaij@radboudumc.nl.

المصدر: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2022 Jul 12; Vol. 79 (8), pp. 418. Date of Electronic Publication: 2022 Jul 12.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Magnesium*/metabolism , Membrane Transport Proteins*/metabolism, Biological Transport ; Cations, Divalent/metabolism ; Phosphotransferases/metabolism

المؤلفون: Bai Z; Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America., Feng J; UCONN Health Center, Farmington, New Mexico, United States of America., Franken GAC; Radboud University Medical Center, Nijmegen, the Netherlands., Al'Saadi N; Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America.; University of Misan, Amarah, Iraq., Cai N; Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America., Yu AS; UCONN Health Center, Farmington, New Mexico, United States of America., Lou L; Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America., Komiya Y; Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America., Hoenderop JGJ; Radboud University Medical Center, Nijmegen, the Netherlands., de Baaij JHF; Radboud University Medical Center, Nijmegen, the Netherlands., Yue L; UCONN Health Center, Farmington, New Mexico, United States of America., Runnels LW; Rutgers-Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America.

المصدر: PLoS biology [PLoS Biol] 2021 Dec 20; Vol. 19 (12), pp. e3001496. Date of Electronic Publication: 2021 Dec 20 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection Cited Medium: Internet ISSN: 1545-7885 (Electronic) Linking ISSN: 15449173 NLM ISO Abbreviation: PLoS Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cation Transport Proteins/*metabolism , Cyclins/*metabolism , Protein Serine-Threonine Kinases/*metabolism , TRPM Cation Channels/*metabolism, Cation Transport Proteins/physiology ; Cations, Divalent/metabolism ; Cell Line, Tumor ; Cyclins/physiology ; HEK293 Cells ; Humans ; Magnesium/metabolism ; Patch-Clamp Techniques ; Protein Serine-Threonine Kinases/physiology ; TRPM Cation Channels/genetics ; TRPM Cation Channels/physiology

المؤلفون: Zolotarov Y; Rosalind and Morris Goodman Cancer Research Centre, McGill University, 1160 Pine Avenue W, Montréal, QC, H3A 1A3, Canada.; Department of Biochemistry, McGill University, Montréal, QC, H3G 1Y6, Canada., Ma C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., González-Recio I; Liver Disease Laboratory, Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, Building 801A, 48160, Derio, Spain., Hardy S; Rosalind and Morris Goodman Cancer Research Centre, McGill University, 1160 Pine Avenue W, Montréal, QC, H3A 1A3, Canada.; Department of Biochemistry, McGill University, Montréal, QC, H3G 1Y6, Canada., Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Uetani N; Rosalind and Morris Goodman Cancer Research Centre, McGill University, 1160 Pine Avenue W, Montréal, QC, H3A 1A3, Canada.; Department of Biochemistry, McGill University, Montréal, QC, H3G 1Y6, Canada., Latta F; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Kostantin E; Rosalind and Morris Goodman Cancer Research Centre, McGill University, 1160 Pine Avenue W, Montréal, QC, H3A 1A3, Canada.; Department of Biochemistry, McGill University, Montréal, QC, H3G 1Y6, Canada., Boulais J; Montreal Clinical Research Institute (IRCM), Montréal, QC, H2W 1R7, Canada., Thibault MP; Montreal Clinical Research Institute (IRCM), Montréal, QC, H2W 1R7, Canada., Côté JF; Montreal Clinical Research Institute (IRCM), Montréal, QC, H2W 1R7, Canada., Díaz-Moreno I; Institute for Chemical Research (IIQ), Scientific Research Centre 'Isla de la Cartuja' (cicCartuja), University of Seville - CSIC, Avda. Américo Vespucio 49, 41092, Seville, Spain., Quintana AD; Institute for Chemical Research (IIQ), Scientific Research Centre 'Isla de la Cartuja' (cicCartuja), University of Seville - CSIC, Avda. Américo Vespucio 49, 41092, Seville, Spain., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Martínez-Cruz LA; Liver Disease Laboratory, Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, Building 801A, 48160, Derio, Spain., Tremblay ML; Rosalind and Morris Goodman Cancer Research Centre, McGill University, 1160 Pine Avenue W, Montréal, QC, H3A 1A3, Canada. michel.tremblay@mcgill.ca.; Department of Biochemistry, McGill University, Montréal, QC, H3G 1Y6, Canada. michel.tremblay@mcgill.ca., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands. jeroen.debaaij@radboudumc.nl.

المصدر: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2021 Jul; Vol. 78 (13), pp. 5427-5445. Date of Electronic Publication: 2021 Jun 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Homeostasis*, ADP-Ribosylation Factors/*metabolism , Cyclins/*metabolism , Magnesium/*metabolism, ADP-Ribosylation Factors/genetics ; Biological Transport ; Cyclins/genetics ; Glycosylation ; HEK293 Cells ; Humans ; Models, Molecular ; Protein Binding

المؤلفون: Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Seker M; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bos C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Siemons LAH; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., van der Eerden BCJ; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Christ A; Department of Molecular Cardiovascular Research, Max-Delbrueck-Center for Molecular Medicine, Berlin, Germany., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Bindels RJM; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands., Müller D; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Breiderhoff T; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands. jeroen.debaaij@radboudumc.nl.

المصدر: Scientific reports [Sci Rep] 2021 Apr 15; Vol. 11 (1), pp. 8217. Date of Electronic Publication: 2021 Apr 15.

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: Cation Transport Proteins/*genetics , Intellectual Disability/*genetics , Magnesium Deficiency/*genetics, Animals ; Animals, Newborn ; Embryo, Mammalian ; Female ; Intellectual Disability/blood ; Intellectual Disability/complications ; Intellectual Disability/pathology ; Magnesium/blood ; Magnesium Deficiency/blood ; Magnesium Deficiency/complications ; Magnesium Deficiency/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Pregnancy ; Seizures/blood ; Seizures/complications ; Seizures/genetics

المؤلفون: Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Müller D; Department of Pediatric Gastroenterology, Nephrology and Metabolism, Charité Universitäts Medizin, Berlin, Germany., Mignot C; Département de Genetique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Assistance Publique Hôpitaux de Paris, Paris, France., Keren B; Département de Génétique, Groupe Hospitalier, Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Paris, France., Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Germanaud D; Pediatric Neurology Department, Centre de Référence Déficiences Intellectuelles de Causes Rares, Service de Neurologie Pédiatrique, Hôpital Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France., Tejada MI; Osakidetza Basque Health Service, Cruces University Hospital, Genetics Service and Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain., Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Nievelstein RAJ; Department of Pediatric Radiology, University Medical Center Utrecht, Utrecht, The Netherlands., Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California, USA., Ruzhnikov M; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California, USA., Claverie-Martin F; Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Szczepańska M; Department of Pediatrics, Medical University of Silesia, Katowice, Poland., Ćuk M; Department of Pediatrics, Children's Hospital Zagreb, Zagreb, Croatia., Latta F; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Konrad M; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Martínez-Cruz LA; Structural Biology Unit, Center for Cooperative Research in Biosciences (CIC bioGUNE), Technology Park of Bizkaia, Derio, Spain., Bindels RJM; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster, Germany., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 473-486. Date of Electronic Publication: 2021 Mar 01.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Cation Transport Proteins*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics, Cyclins/genetics ; Heterozygote ; Humans ; Mutation ; Phenotype