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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Autor: Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.

Publikováno v: In The American Journal of Human Genetics 7 July 2016 99(1):174-187

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.

Autor: Fellmann F; The ColLaboratory, University of Lausanne, Lausanne, Switzerland.; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Saunders C; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., O'Donohue MF; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Reid DW; Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA.; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., McFadden KA; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Montel-Lehry N; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Yu C; BGI-Shenzhen, Shenzhen, China., Fang M; BGI-Shenzhen, Shenzhen, China., Zhang J; BGI-Shenzhen, Shenzhen, China., Royer-Bertrand B; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Farinelli P; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Karboul N; UMR 1149 INSERM, Faculté de Médecine Site Bichat, Paris, France., Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Bhuiyan ZA; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Kleinhenz AL; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Jadeau J; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France., Fulbright J; Division of Hematology/Oncology, Children's Mercy Hospital and Clinics, Kansas City, Missouri, USA., Rivolta C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Renella R; Division of Pediatrics, University Hospital Lausanne (CHUV), Lausanne, Switzerland., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA., Beckmann JS; Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland.; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Clinical Bioinformatics, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland., Nicchitta CV; Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA.; Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA., Da Costa L; AP-HP, Service d'Hématologie Biologique, Hôpital Robert Debré, Paris, France.; Université Paris Cité, Paris, France.; Hematim EA4666, CURS, CHU Amiens, Amiens, France.; LABEX GR-EX, Paris, France., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Gleizes PE; MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.

Publikováno v: JCI insight [JCI Insight] 2024 Aug 01; Vol. 9 (17). Date of Electronic Publication: 2024 Aug 01.