Mutations in PAX2 associate with adult-onset FSGS

Journal of the American Society of Nephrology

Volumn 25, Issue 9, 2014, Pages 1942-1953

  Barua, Moumita ^a   Stellacci, Emilia ^b   Stella, Lorenzo ^c   Weins, Astrid ^d   Genovese, Giulio ^a,e,f,g   Muto, Valentina ^a   Caputo, Viviana ^h   Toka, Hakan R ^a,d   Charoonratana, Victoria T ^h   Tartaglia, Marco ^b   Pollak, Martin R ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e Stanley Center for Psychiatric Research   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX2; PAX2 PROTEIN, HUMAN;

ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; KIDNEY MALFORMATION; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN FUNCTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; URETEROPELVIC JUNCTION OBSTRUCTION; VESICOURETERAL REFLUX; ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CHEMICAL STRUCTURE; CHEMISTRY; COHORT ANALYSIS; COMPUTER SIMULATION; EXOME; FEMALE; GENETICS; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; ONSET AGE; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION; STATIC ELECTRICITY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; COHORT STUDIES; COMPUTER SIMULATION; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PAX2 TRANSCRIPTION FACTOR; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; STATIC ELECTRICITY; VESICO-URETERAL REFLUX; YOUNG ADULT;

EID: 84921665535     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013070686     Document Type: Article

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