Mild recessive mutations in six fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract

Journal of the American Society of Nephrology

Volumn 25, Issue 9, 2014, Pages 1917-1922

  Kohl, Stefan ^a   Hwang, Daw Yang ^a,b   Dworschak, Gabriel C ^a,c   Hilger, Alina C ^c,d   Saisawat, Pawaree ^d   Vivante, Asaf ^a   Stajic, Natasa ^e,f   Bogdanovic, Radovan ^e,f   Reutter, Heiko M ^c   Kehinde, Elijah O ^g   Tasic, Velibor ^h   Hildebrandt, Friedhelm ^a,i,j  

^a HARVARD MEDICAL SCHOOL   (United States)

^b KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF BELGRADE   (Serbia)

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

^g KUWAIT UNIVERSITY   (Kuwait)

^h UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^j BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; FRAS1 PROTEIN; FREM1 PROTEIN; FREM2 PROTEIN; GREM1 PROTEIN; ITGA8 PROTEIN; NUCLEAR RECEPTOR COACTIVATOR 2; UNCLASSIFIED DRUG; ALPHA INTEGRIN; CARRIER PROTEIN; FRAS1 PROTEIN, HUMAN; FREM2 PROTEIN, HUMAN; GREM1 PROTEIN, HUMAN; GRIP1 PROTEIN, HUMAN; INTERLEUKIN RECEPTOR; ITGA8 PROTEIN, HUMAN; NERVE PROTEIN; SCLEROPROTEIN; SIGNAL PEPTIDE; TILRR PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; EXON; FEMALE; FRASER SYNDROME; GENE FUNCTION; GENE INTERACTION; GENE ISOLATION; GENE SEQUENCE; GENE TARGETING; HUMAN; KIDNEY MALFORMATION; KIDNEY MESENCHYME CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SOLITARY KIDNEY; URINARY TRACT MALFORMATION; ANIMAL; CONGENITAL DISORDER; CONGENITAL MALFORMATION; DISEASE MODEL; GENETICS; KIDNEY; KIDNEY DISEASES; MUTANT MOUSE STRAIN; MUTATION; RECESSIVE GENE; URINARY TRACT; VESICOURETERAL REFLUX;

ANIMALS; CARRIER PROTEINS; CONGENITAL ABNORMALITIES; DISEASE MODELS, ANIMAL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRASER SYNDROME; GENES, RECESSIVE; HUMANS; INTEGRIN ALPHA CHAINS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; KIDNEY DISEASES; MALE; MICE; MICE, MUTANT STRAINS; MUTATION; NERVE TISSUE PROTEINS; RECEPTORS, INTERLEUKIN; URINARY TRACT; VESICO-URETERAL REFLUX;

EID: 84921669891     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013101103     Document Type: Article

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