Disruption of ROBO2 is associated with congenital anomalies of kidney and urinary tract and confers risk of vesicoureteric reflux

Autor: Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi J, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2295::9770657d3d0a6902b7cd566bf3b2bb9d
http://www.manchester.ac.uk/escholar/uk-ac-man-scw:78015

Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.

Autor: Vendrig LM; Department of Pediatric Nephrology, Amsterdam UMC-Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Ten Hoor MAC; Division of Nephrology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., König BH; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands., Lekkerkerker I; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Renkema KY; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Schreuder MF; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van der Zanden LFM; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Groen In 't Woud S; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Mulder J; Division of Nephrology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Division of Nephrology, Department of Pediatrics, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, The Netherlands., Westland R; Department of Pediatric Nephrology, Amsterdam UMC-Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. ri.westland@amsterdamumc.nl.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Oct 07. Date of Electronic Publication: 2024 Oct 07.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Autor: Dollfus H; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. dollfus@unistra.fr.; Université de Strasbourg, UMRS_1112, Strasbourg, France. dollfus@unistra.fr., Lilien MR; ERKNet Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands., Maffei P; Endo-ERN Department of Medicine (DIMED), 3rd Medical Clinic, Padua University, Padua, Italy., Verloes A; ERN-ITHACA Department of Genetics, AP-HP - Université de Paris; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France., Muller J; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Bacci GM; ERN-EYE Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy., Cetiner M; ERKNet Children's Hospital, Pediatrics II, University of Essen, Essen, Germany., van den Akker ELT; Endo-ERN Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands., Grudzinska Pechhacker M; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Testa F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Lacombe D; ERN-ITHACA Department of Medical Genetics, CHU Bordeaux, INSERM Unit_1211, Laboratory 'Rare Diseases: Genetics and Metabolism', University of Bordeaux, Bordeaux, France., Stokman MF; ERKNet Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Simonelli F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Gouronc A; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Université de Strasbourg, UMRS_1112, Strasbourg, France.; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Gavard A; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van Haelst MM; ERN-ITHACA Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Koenig J; ERKNet University Children's Hospital Muenster, Muenster, NRW, Germany., Rossignol S; Endo-ERN Département de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Zacchia M; ERKNet Division of Nephrology, Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Leroy BP; ERN-EYE Department of Ophthalmology & Department of Head & Skin, Ghent University Hospital and Ghent University, Ghent, Belgium.; Center for Cellular and Molecular Therapeutics and Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mosbah H; Endo-ERN Department of Endocrinology, Diabetology & Nutrition, University Hospital of Poitiers, Poitiers, France., Van Eerde AM; ERKNet Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mekahli D; ERKNet PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Servais A; ERKNet Department of Kidney and Metabolic Diseases, Transplantation and Clinical Immunology, Necker Hospital, AP-HP, Centre of Reference for the French Nationwide MARHEANetwork (CNR-MARHEA), Paris, France.; Inserm U1163, Imagine Institute, Paris, France., Poitou C; Endo-ERN Centre de Référence pour les obésités rares (CRMR PRADORT), Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Sorbonne Université, INSERM, Nutrition & Obesities: Systemic Approaches Research Group (NutriOmics), Paris, France., Valverde D; CINBIO, Universidad de Vigo, Grupo de Investigación en Enfermedades Raras, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Vigo, Spain.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul 31. Date of Electronic Publication: 2024 Jul 31.

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Autor: Buffin-Meyer B; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Richard J; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France., Guigonis V; Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France., Weber S; Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany., König J; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Heidet L; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Moussaoui N; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Filière ORphan KIdney Disease (ORKiD), Montpellier, France., Vu JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Faguer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Casemayou A; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Prakash R; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Baudouin V; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Hogan J; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Alexandrou D; University College London Medical School, London, UK., Bockenhauer D; University College London, Department of Renal Medicine, London, UK.; Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Bacchetta J; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.; INSERM 1033, Faculté de Médecine Lyon Est, Lyon, France., Ranchin B; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Pruhova S; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Zieg J; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Lahoche A; Unité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Okorn C; Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany., Antal-Kónya V; MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Morin D; Néphrologie Pédiatrique, CHU de Montpellier, Montpellier, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Montpellier, France.; Université de Montpellier, Montpellier, France., Becherucci F; Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Liebau MC; Department of Pediatrics and Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany., Mauras M; Department of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France., Nijenhuis T; Department of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands., Llanas B; Unité de Néphrologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Centre de Références des Maladies rénales rares du Sud-Ouest (SORARE), Bordeaux, France., Mekahli D; Department of Pediatric Nephrology, University Hospitals, Leuven, Belgium.; PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Thumfart J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany., Tönshoff B; Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany., Massella L; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Eckart P; Department of Pediatrics, University Hospital of Caen, Caen, France., Cloarec S; Service de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France.; Centre De Compétence Maladies Rénales Rares, Filière ORphan KIdney Disease (ORKiD), France., Cruz A; Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain., Patzer L; Klinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany., Roussey G; Service des Maladies Chroniques de l'Enfant, Hopital Mère Enfant, CHU Nantes, Nantes, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Nantes, France., Vrillon I; Service de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, France., Dunand O; Service de Néphrologie Pédiatrique, CHU Réunion site Félix GUYON, St Denis, Ile de La Réunion, France., Bessenay L; Department of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Taroni F; Pediatric Nephrology, Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Louillet F; Département de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, France., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Schaefer F; Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany., van Eerde AM; Department of Genetics, UMC Utrecht, Utrecht, The Netherlands., Schanstra JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Decramer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.

Publikováno v: Kidney international reports [Kidney Int Rep] 2024 May 16; Vol. 9 (8), pp. 2514-2526. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024).

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

Autor: 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.

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