In vitro and pathological investigations of MODY5 with the R276X-HNF1β (TCF2) mutation

Endocrine Journal

Volumn 54, Issue 5, 2007, Pages 757-764

  Fujimoto, Kei ^a   Sasaki, Takashi ^a   Hiki, Yoshito ^a   Nemoto, Masami ^a   Utsunomiya, Yasunori ^a   Yokoo, Takashi ^a   Nakai, Nozomu ^a   Ohashi, Toya ^a   Hosoya, Tatsuo ^a   Eto, Yoshikatsu ^a   Tajima, Naoko ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

MODY; Polycystic kidney; RCAD; TCF2

Indexed keywords

C PEPTIDE; COMPLEMENTARY DNA; HEPATOCYTE NUCLEAR FACTOR 1BETA; INSULIN; POTASSIUM CHLORIDE; PREPROINSULIN; TRANSCRIPTION FACTOR II; ARGININE; TCF2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; IN VITRO STUDY; INSULIN RELEASE; KIDNEY BIOPSY; KIDNEY CYST; MALE; MATURITY ONSET DIABETES MELLITUS; MATURITY ONSET DIABETES OF THE YOUNG TYPE 5; NONHUMAN; NONSENSE MUTATION; PANCREAS ISLET BETA CELL; PATHOGENESIS; PHENOTYPE; RENAL CYST AND DIABETES SYNDROME; CELL CULTURE; CLASSIFICATION; GENETIC TRANSFECTION; GENETICS; KIDNEY POLYCYSTIC DISEASE; METABOLISM; NON INSULIN DEPENDENT DIABETES MELLITUS; ONSET AGE; PATHOLOGY; PEDIGREE; SECRETION; STOP CODON;

ADULT; AGE OF ONSET; ARGININE; C-PEPTIDE; CELLS, CULTURED; CODON, NONSENSE; DIABETES MELLITUS, TYPE 2; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INSULIN-SECRETING CELLS; MALE; PEDIGREE; POLYCYSTIC KIDNEY DISEASES; TRANSFECTION;

EID: 40649129278     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K07-051     Document Type: Article

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