Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei

Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei.

Afiliação

Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Rao J; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mollet G; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
Schapiro D; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Daugeron MC; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Tan W; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Gribouval O; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Boyer O; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
Revy P; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Jobst-Schwan T; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
Schmidt JM; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Lawson JA; Department of Pediatric Nephrology, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Schanze D; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Ashraf S; INSERM, U1163, Imagine Institute, Laboratory of Genome Dynamics in the Immune system, Paris, France.
Ullmann JFP; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hoogstraten CA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Boddaert N; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Collinet B; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Martin G; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Liger D; Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Lovric S; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
Furlano M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Guerrera IC; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Sanchez-Ferras O; INSERM, U1163, Imagine Institute, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, and INSERM U1000, Paris, France.
Hu JF; Department of Pediatric Radiology, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Boschat AC; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Sanquer S; Sorbonne Universités UPMC, UFR 927, Sciences de la Vie, Paris, France.
Menten B; Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie UMR 7590, Sorbonne Universités, UPMC, Université Paris 06, Paris, France.
Vergult S; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
De Rocker N; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Airik M; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Hermle T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Shril S; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
Widmeier E; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Gee HY; Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona, Spain.
Choi WI; Proteomics platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.
Sadowski CE; Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Pabst WL; Departments of Chemistry and Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Warejko JK; Mass Spectrometry Platform, Imagine Institute, Paris, France.
Daga A; Department of Metabolomic and Proteomic Biochemistry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Basta T; INSERM UMR-S1124, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Matejas V; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Scharmann K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Kienast SD; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Behnam B; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Beeson B; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Begtrup A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Bruce M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ch'ng GS; Department of Medicine, Renal Division, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Lin SP; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Nat Genet ; 49(10): 1529-1538, 2017 Oct.

Article em En | MEDLINE | ID: mdl-28805828

Assuntos

Hérnia Hiatal/genética; Microcefalia/genética; Complexos Multiproteicos/genética; Mutação; Nefrose/genética; Animais; Apoptose/genética; Sistemas CRISPR-Cas; Proteínas de Transporte/genética; Movimento Celular; Citoesqueleto/ultraestrutura; Reparo do DNA/genética; Estresse do Retículo Endoplasmático/genética; Técnicas de Inativação de Genes; Humanos; Peptídeos e Proteínas de Sinalização Intracelular/deficiência; Peptídeos e Proteínas de Sinalização Intracelular/genética; Metaloendopeptidases/deficiência; Metaloendopeptidases/genética; Camundongos; Modelos Moleculares; Síndrome Nefrótica/genética; Síndrome Nefrótica/patologia; Podócitos/metabolismo; Podócitos/ultraestrutura; Conformação Proteica; Proteínas Serina-Treonina Quinases/deficiência; Proteínas Serina-Treonina Quinases/genética; Processamento Pós-Transcricional do RNA/genética; RNA de Transferência/metabolismo; Homeostase do Telômero/genética; Peixe-Zebra; Proteínas de Peixe-Zebra/deficiência; Proteínas de Peixe-Zebra/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexos Multiproteicos / Hérnia Hiatal / Microcefalia / Mutação / Nefrose Limite: Animals / Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos

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