A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans

Genetics

Volumn 207, Issue 1, 2017, Pages 215-228

  Brophy, Patrick D ^a   Rasmussen, Maria ^a,c   Parida, Mrutyunjaya ^a,b   Bonde, Greg ^a   Darbro, Benjamin W ^a   Hong, Xiaojing ^b   Clarke, Jason C ^a   Peterson, Kevin A ^d   Denegre, James ^d   Schneider, Michael ^e   Sussman, Caroline R ^f   Sunde, Lone ^c   Lildballe, Dorte L ^c   Hertz, Jens Michael ^g   Cornell, Robert A ^a   Murray, Stephen A ^d   Robert Manak, J ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d JACKSON LABORATORY   (United States)

^e CARLE FOUNDATION HOSPITAL   (United States)

^f MAYO CLINIC   (United States)

^g ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

CAKUT; GREB1L; Renal agenesis; Retinoic acid; Whole exome sequencing

Indexed keywords

RETINOIC ACID RECEPTOR; RETINOIC ACID RECEPTOR GAMMA; GREB1 PROTEIN, HUMAN; GREB1 PROTEIN, ZEBRAFISH; KIAA0575 PROTEIN, MOUSE; PROTEIN; TUMOR PROTEIN; ZEBRAFISH PROTEIN;

ANIMAL CELL; ARTICLE; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; GENE LOCUS; GREB1L GENE; HUMAN; HUMAN CELL; INHERITANCE; KIDNEY AGENESIS; KIDNEY DEVELOPMENT; LOSS OF FUNCTION MUTATION; MARKER GENE; NONHUMAN; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PRONEPHROS; WHOLE EXOME SEQUENCING; ZEBRA FISH; ABNORMALITIES; ANIMAL; CONGENITAL DISORDER; EMBRYOLOGY; EXOME; FEMALE; GENETICS; KIDNEY; KIDNEY DISEASE; MALE; METABOLISM; MOUSE; PATHOLOGY;

ANIMALS; CONGENITAL ABNORMALITIES; EXOME; FEMALE; HUMANS; KIDNEY; KIDNEY DISEASES; LOSS OF FUNCTION MUTATION; MALE; MICE; NEOPLASM PROTEINS; PEDIGREE; PROTEINS; RECEPTORS, RETINOIC ACID; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 85028987200     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.117.1125     Document Type: Article

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