HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred

Journal of Nephrology

Volumn 26, Issue 1, 2013, Pages 207-212

  Mancusi, Silvia ^a   La Manna, Angela ^a   Bellini, Giulia ^a   Scianguetta, Saverio ^a   Roberti, Domenico ^a   Casale, Maddalena ^a   Rossi, Francesca ^a   Della Ragione, Fulvio ^a   Perrotta, Silverio ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

HNF 1 ; MODY5; PKD2; Renal cysts; SOCS3

Indexed keywords

COMPLEMENTARY DNA; HEPATOCYTE NUCLEAR FACTOR 1BETA; POLYCYSTIN 2; SUPPRESSOR OF CYTOKINE SIGNALING 3;

ADOLESCENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DIABETES MELLITUS; DNA DETERMINATION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEPATOCYTE NUCLEAR FACTOR 1BETA GENE; HUMAN; HUMAN CELL; KIDNEY CYST; LYMPHOBLASTOID CELL LINE; LYMPHOCYTE; MALE; MATURITY ONSET DIABETES OF YOUNG TYPE 5; MEDICAL HISTORY; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPE; POLYCYSTIC KIDNEY DISEASE 2 GENE; PROTEIN DOMAIN; SUPPRESSOR OF CYTOKINE SIGNALING 3 GENE; TRANSACTIVATION;

ADOLESCENT; CASE-CONTROL STUDIES; CELLS, CULTURED; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; DENTAL ENAMEL; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENE EXPRESSION; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; LYMPHOCYTES; MALE; SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS; TRPP CATION CHANNELS;

EID: 84877087434     PISSN: 11218428     EISSN: 17246059     Source Type: Journal    
DOI: 10.5301/jn.5000126     Document Type: Article

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