A dominant mutation in nuclear receptor interacting protein 1 causes urinary tract malformations via dysregulation of retinoic acid signaling

Journal of the American Society of Nephrology

Volumn 28, Issue 8, 2017, Pages 2364-2376

  Vivante, Asaf ^a,b   Mann, Nina ^a   Yonath, Hagith ^c   Weiss, Anna Carina ^d   Getwan, Maike ^e   Kaminski, Michael M ^e   Bohnenpoll, Tobias ^d   Teyssier, Catherine ^f,g,h,i   Chen, Jing ^a   Shril, Shirlee ^a   Van Der Ven, Amelie T ^a   Ityel, Hadas ^a   Schmidt, Johanna Magdalena ^a   Widmeier, Eugen ^a,e   Bauer, Stuart B ^j   Sanna Cherchi, Simone ^k   Gharavi, Ali G ^k   Lu, Weining ^l   Magen, Daniella ^m   Shukrun, Rachel ^b,c   Lifton, Richard P ^n,o   Tasic, Velibor ^p   Stanescu, Horia C ^q   Cavaillès, Vincent ^f,g,h,i   Kleta, Robert ^q   Anikster, Yair ^b,c   Dekel, Benjamin ^b,c   Kispert, Andreas ^d   Lienkamp, Soeren S ^e,r   Hildebrandt, Friedhelm ^a   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d HANNOVER MEDICAL SCHOOL   (Germany)

^e Center of El Paso   (United States)

^f INSTITUT DE RECHERCHE EN CANCÉROLOGIE DE MONTPELLIER   (France)

^g INSERM   (France)

^h UNIV MONTPELLIER   (France)

ⁱ CENTRE VAL D AURELLE   (France)

^j HARVARD MEDICAL SCHOOL   (United States)

^k Och Spine at New York Presbyterian Hospitals   (United States)

^l BOSTON UNIVERSITY MEDICAL CENTER   (United States)

^m TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

ⁿ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^p UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^q UNIVERSITY COLLEGE LONDON   (United Kingdom)

^r UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RECEPTOR INTERACTING PROTEIN 140; RETINOIC ACID; RETINOIC ACID RECEPTOR ALPHA; RETINOL; RNA; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; EMBRYO; EXPLANT; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; KIDNEY DEVELOPMENT; KIDNEY MALFORMATION; MALE; MOUSE; NONHUMAN; NULL ALLELE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; URINARY TRACT MALFORMATION; UROGENITAL SYSTEM; WHOLE EXOME SEQUENCING; WOLFFIAN DUCT; XENOPUS LAEVIS; ABNORMALITIES; ANIMAL; GENETICS; MUTATION; PHYSIOLOGY; SIGNAL TRANSDUCTION; URINARY TRACT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; MICE; MUTATION; NUCLEAR PROTEINS; SIGNAL TRANSDUCTION; TRETINOIN; URINARY TRACT;

EID: 85026547785     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2016060694     Document Type: Article

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