Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Kidney International

Volumn 85, Issue 6, 2014, Pages 1310-1317

  Saisawat, Pawaree ^a   Kohl, Stefan ^b   Hilger, Alina C ^a,c   Hwang, Daw Yang ^b   Yung Gee, Heon ^b   Dworschak, Gabriel C ^b,c   Tasic, Velibor ^d   Pennimpede, Tracie ^e   Natarajan, Sivakumar ^a   Sperry, Ethan ^a   Matassa, Danilo S ^f   Stajić, Nataša ^g,h   Bogdanovic, Radovan ^g,h   De Blaauw, Ivo ⁱ   Marcelis, Carlo L M ⁱ   Wijers, Charlotte H W ⁱ   Bartels, Enrika ^c   Schmiedeke, Eberhard ^j   Schmidt, Dominik ^c,k   Märzheuser, Stefanie ^k   Grasshoff Derr, Sabine ^l   Holland Cunz, Stefan ^m   Ludwig, Michael ^c   Nöthen, Markus M ^c   Draaken, Markus ^c   Brosens, Erwin ⁿ   Heij, Hugo ^o   Tibboel, Dick ⁿ   Herrmann, Bernhard G ^e   Solomon, Benjamin D ^p   De Klein, Annelies ⁿ   Van Rooij, Iris A L M ⁱ   Esposito, Franca ^f   Reutter, Heiko M ^c   Hildebrandt, Friedhelm ^b,q   more..

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF BELGRADE   (Serbia)

^h Institute of Mother and Child Healthcare of Serbia   (Serbia)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j Hospital Bremen Mitte   (Germany)

^k CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^l UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^m UNIVERSITY OF HEIDELBERG   (Germany)

ⁿ SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^o EMMA CHILDREN S HOSPITAL   (Netherlands)

^p NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^q HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

genetic renal disease; genetics and development; renal agenesis; renal development; ureteric bud; vesicoureteral reflux

Indexed keywords

CHAPERONE; HEAT SHOCK PROTEIN 90; PROTEIN; TRANSFORMING NECROSIS FACTOR RECEPTOR ASSOCIATED PROTEIN 1; UNCLASSIFIED DRUG; TRAP-1 PROTEIN, MOUSE; TRAP1 PROTEIN, HUMAN; TRAP1 PROTEIN, RAT;

ADULT; ALLELE; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; EXOME; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HENLE LOOP; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; IMMUNOFLUORESCENCE MICROSCOPY; IN SITU HYBRIDIZATION; KIDNEY AGENESIS; KIDNEY MALFORMATION; KIDNEY PROXIMAL TUBULE; MALE; MISSENSE MUTATION; MOUSE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; RAT; URINARY TRACT MALFORMATION; ABNORMALITIES; AGE; ANAL CANAL; ANIMAL; CLINICAL TRIAL; DNA MUTATIONAL ANALYSIS; EMBRYOLOGY; ESOPHAGUS; EUROPE; EXOSOME; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMAN; KIDNEY; LIMB DEFORMITIES, CONGENITAL; METABOLISM; MULTICENTER STUDY; MUTATION; PEDIGREE; PREDICTIVE VALUE; PROCEDURES; RISK FACTOR; SPINE; TRACHEA; UNITED STATES; UROGENITAL TRACT MALFORMATION; VESICO-URETERAL REFLUX;

AGE FACTORS; ANAL CANAL; ANIMALS; DNA MUTATIONAL ANALYSIS; ESOPHAGUS; EUROPE; EXOSOMES; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HSP90 HEAT-SHOCK PROTEINS; HUMANS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PEDIGREE; PREDICTIVE VALUE OF TESTS; RISK FACTORS; SPINE; TRACHEA; UNITED STATES; UROGENITAL ABNORMALITIES; VESICO-URETERAL REFLUX;

EID: 84901833726     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2013.417     Document Type: Article

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