Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

Autor: Bosman W; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Chang CA; Department of Medical Genetics, BC Women and Children's Hospital, Vancouver, British Columbia, Canada., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Guzman E; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Latta F; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Claverie-Martin F; Unidad de Investigación, RenalTube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Davis JM; Greenwood Genetic Center, Greenwood, SC, USA., Hoenderop JGJ; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., de Baaij JHF; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.

Publikováno v: Clinical kidney journal [Clin Kidney J] 2024 Jul 05; Vol. 17 (8), pp. sfae211. Date of Electronic Publication: 2024 Jul 05 (Print Publication: 2024).

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

Autor: Viering, D.H.H.M., Hureaux, M., Neveling, K., Latta, F., Kwint, M.P., Blanchard, A., Konrad, M., Bindels, R.J.M., Schlingmann, K.P., Vargas-Poussou, R., Baaij, J.H.F. de

Publikováno v: Journal of the American Society of Nephrology, 34, 333-345
Journal of the American Society of Nephrology, 34, 2, pp. 333-345

Item does not contain fulltext BACKGROUND: Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad07048e8396eae84f15299810c00f74
https://doi.org/10.1681/ASN.2022050627

Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

Autor: Vargas-Poussou R; Département de Génétique, Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Hôpital Européen Georges Pompidou, Paris, France., Claverie-Martin F; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Prot-Bertoye C; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, CNRS, Paris, France.; Department of Physiology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France., Carotti V; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van der Wijst J; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Perdomo-Ramirez A; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Fraga-Rodriguez GM; Sección de Nefrología Pediátrica, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain., Hureaux M; Département de Génétique, Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Hôpital Européen Georges Pompidou, Paris, France., Bos C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Latta F; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Houillier P; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, CNRS, Paris, France.; Department of Physiology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France., 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.

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2023 Feb 28; Vol. 38 (3), pp. 679-690.

Differentiated mouse kidney tubuloids as a novel in vitro model to study collecting duct physiology.

Autor: Olde Hanhof CJA; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Dilmen E; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Yousef Yengej FA; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, Utrecht, Netherlands.; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, Netherlands., Latta F; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Ammerlaan CME; Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, Utrecht, Netherlands.; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, Netherlands., Schreurs J; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Hooijmaijers L; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Jansen J; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Pediatric Nephrology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, Netherlands.; Institute of Experimental Medicine and Systems Biology, Medical Faculty RWTH Aachen University, Aachen, Germany., Rookmaaker MB; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, Netherlands., Orhon I; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Verhaar MC; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, Netherlands., Hoenderop JG; Department of Molecular Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2023 Jan 25; Vol. 11, pp. 1086823. Date of Electronic Publication: 2023 Jan 25 (Print Publication: 2023).

ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs.

Autor: 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.

Publikováno v: 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.