Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction [1]

Diabetologia

Volumn 50, Issue 9, 2007, Pages 2019-2022

  Minton, J A L ^a   Van De Bunt, M ^b   Boustred, C ^a   Hussain, K ^c   Hattersley, A T ^a   Ellard, S ^a   Gloyn, A L ^b  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Diabetes; Genetics; HEX; HHEX; MODY; Monogenic diabetes; Permanent neonatal diabetes; Persistent hyperinsulinaemic hypoglycaemia of infancy; PHHI; PNDM

Indexed keywords

DNA FRAGMENT; HEMATOPOIETIC EXPRESSED HOMEOBOX PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; HOMEODOMAIN PROTEIN; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

AGENESIS; AMPLICON; BLOOD DONOR; DNA DETERMINATION; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOME; HUMAN; HYPERGLYCEMIA; HYPOGLYCEMIA; LETTER; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; DIABETES MELLITUS; DIABETES MELLITUS, TYPE 1; EXONS; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INSULIN-SECRETING CELLS; MUTATION; PROMOTER REGIONS (GENETICS); TRANSCRIPTION FACTORS;

EID: 34547670061     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-007-0748-3     Document Type: Letter

References (10)

1. Bort R, Martinez-Barbera JP, Beddington RS, Zaret KS (2004) Hex homeobox gene-dependent tissue positioning is required for organogenesis of the ventral pancreas. Development 131:797-806
2. Martinez Barbera JP, Clements M, Thomas P et al (2000) The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation. Development 127:2433-2445
3. Bogue CW, Ganea GR, Sturm E, Ianucci R, Jacobs HC (2000) Hex expression suggests a role in the development and function of organs derived from foregut endoderm. Dev Dyn 219:84-89
4. Tanaka H, Yamamoto T, Ban T et al (2005) Hex stimulates the hepatocyte nuclear factor 1α-mediated activation of transcription. Arch Biochem Biophys 442:117-124
5. Gloyn AL, Ellard S (2006) Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin Pharmacother 7:1759-1767
6. Pearson ER, Boj SF, Steele AM et al (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLos Medicine 4:e118
7. Sellick GS, Barker KT, Stolte-Dijkstra I et al (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 36:1301-1305
8. McCarthy MI (2004) Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification. Hum Mol Genet 13:R33-R41
9. Sladek R, Rocheleau G, Rung J et al (2007) A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445:881-885
10. Frayling TM, Lindgren CM, Chevre JC et al (2003) A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes 52:872-881