Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: Mutations in multiple glomerular genes may influence disease severity

European Journal of Human Genetics

Volumn 23, Issue 9, 2015, Pages 1192-1199

  Bullich, Gemma ^a   Trujillano, Daniel ^b,c,d,e   Santín, Sheila ^a   Ossowski, Stephan ^b,c   Mendizábal, Santiago ^f   Fraga, Gloria ^g   Madrid, Álvaro ^h   Ariceta, Gema ^h   Ballarín, José ^a   Torra, Roser ^a   Estivill, Xavier ^b,c,d,e   Ars, Elisabet ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d HOSPITAL DEL MAR   (Spain)

^e CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^f HOSPITAL UNIVERSITARIO LA FE   (Spain)

^g HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 A3; INF2 PROTEIN; NEPHRIN; PODOCIN; PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6; UNCLASSIFIED DRUG; WT1 PROTEIN; ACTIN BINDING PROTEIN; ACTININ; ACTN4 PROTEIN, HUMAN; AUTOANTIGEN; INF2 PROTEIN, HUMAN; TRANSIENT RECEPTOR POTENTIAL CHANNEL C; TRPC6 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; END STAGE RENAL DISEASE; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENE TARGETING; GENETIC VARIABILITY; HEMATURIA; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; MALE; NEXT GENERATION SEQUENCING; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; RNA ANALYSIS; SENSITIVITY AND SPECIFICITY; ADOLESCENT; ADULT; CHILD; GENE EXPRESSION; GENETIC HETEROGENEITY; GENETICS; GENOTYPE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HIGH THROUGHPUT SEQUENCING; INFANT; MIDDLE AGED; MUTATION; NEPHROTIC SYNDROME; PATHOLOGY; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX;

ACTININ; ADOLESCENT; ADULT; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; GENOTYPE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TRPC CATION CHANNELS;

EID: 84939267798     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.252     Document Type: Article

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