Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Author(s) -
Esther López-Rivera,
Yangfan P. Liu,
Miguel Verbitsky,
Blair R. Anderson,
Valentina Capone,
Edgar A. Otto,
Zhonghai Yan,
Adele Mitrotti,
Jeremiah Martino,
Nicholas J. Steers,
David Fasel,
Katarina Vukojević,
Rong Deng,
Silvia E. Racedo,
Qingxue Liu,
Max Werth,
Rik Westland,
Asaf Vivante,
Gabriel S. Makar,
Monica Bodria,
Matthew G. Sampson,
Christopher E. Gillies,
Virginia Vega-Warner,
Mariarosa Maiorana,
Donald Petrey,
Barry Honig,
Vladimir J. Lozanovski,
Rémi Salomon,
Laurence Heidet,
Wassila Carpentier,
Dominique Gaillard,
Alba Carrea,
Loreto Gesualdo,
Daniele Cusi,
Claudia Izzi,
Francesco Scolari,
J. A. E. van Wijk,
Adela Arapović,
Mirna SaragaBabić,
Marijan Saraga,
Nenad Kunac,
Ali Samii,
Donna M. McDonaldMcGinn,
T. Blaine Crowley,
Elaine H. Zackai,
Dorota Drożdż,
Monika Miklaszewska,
Marcin Tkaczyk,
Przemysław Sikora,
Maria Szczepańska,
Małgorzata Mizerska-Wasiak,
Grażyna Krzemień,
Agnieszka Szmigielska,
Marcin Zaniew,
John M. Darlow,
Prem Puri,
David Barton,
E Casolari,
Susan L. Furth,
Bradley A. Warady,
Zoran Gucev,
Hákon Hákonarson,
Hana Flögelová,
Velibor Tasić,
Anna LatosBieleńska,
Anna MaternaKiryluk,
Landino Allegri,
Craig S. Wong,
Iain A. Drummond,
Vivette D. D’Agati,
Akira Imamoto,
Jonathan Barasch,
Friedhelm Hildebrandt,
Krzysztof Kiryluk,
Richard P. Lifton,
Bernice E. Morrow,
Marc Jeanpierre,
Virginia E. Papaioannou,
Gian Marco Ghiggeri,
Ali G. Gharavi,
Nicholas Katsanis,
Simone SannaCherchi
Publication year - 2017
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1609009
Subject(s) - digeorge syndrome , kidney , biology , locus (genetics) , urinary system , zebrafish , genetics , gene , endocrinology
The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.
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