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• Journal article
  Servitja J-M, Pignatelli M, Angel Maestro M, Cardalda C, Boj SF, Lozano J, Blanco E, Lafuente A, McCarthy MI, Sumoy L, Guigo R, Ferrer Jet al., 2009,
  , MOLECULAR AND CELLULAR BIOLOGY, Vol: 29, Pages: 2945-2959, ISSN: 0270-7306
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  • Citations: 115
• Journal article
  Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley ATet al., 2007,
  , PLoS Med, Vol: 4

  BACKGROUND: Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with diabetes and in congenital hyperinsulinaemia is mediated by increased foetal insulin secretion. We assessed the in utero and neonatal role of two key regulators of pancreatic insulin secretion by studying birthweight and the incidence of neonatal hypoglycaemia in patients with heterozygous mutations in the maturity-onset diabetes of the young (MODY) genes HNF4A (encoding HNF-4alpha) and HNF1A/TCF1 (encoding HNF-1alpha), and the effect of pancreatic deletion of Hnf4a on foetal and neonatal insulin secretion in mice. METHODS AND FINDINGS: We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutations, and 134 patients from families with HNF1A mutations. Birthweight was increased by a median of 790 g in HNF4A-mutation carriers compared to non-mutation family members (p < 0.001); 56% (30/54) of HNF4A-mutation carriers were macrosomic compared with 13% (7/54) of non-mutation family members (p < 0.001). Transient hypoglycaemia was reported in 8/54 infants with heterozygous HNF4A mutations, but was reported in none of 54 non-mutation carriers (p = 0.003). There was documented hyperinsulinaemia in three cases. Birthweight and prevalence of neonatal hypoglycaemia were not increased in HNF1A-mutation carriers. Mice with pancreatic beta-cell deletion of Hnf4a had hyperinsulinaemia in utero and hyperinsulinaemic hypoglycaemia at birth. CONCLUSIONS: HNF4A mutations are associated with a considerable increase in birthweight and macrosomia, and are a novel cause of neonatal hypoglycaemia. This study establishes a key role for HNF4A in determining foetal birthweight, and uncovers an unanticipated feature of the natural history of HNF4A-deficient diabetes, with hyperinsulinaemia at birth evolving to decreased insulin se

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• Journal article
  Pierreux CE, Poll AV, Kemp CR, Clotman F, Maestro MA, Cordi S, Ferrer J, Leyns L, Rousseau GG, Lemaigre FPet al., 2006,
  , GASTROENTEROLOGY, Vol: 130, Pages: 532-541, ISSN: 0016-5085
  • Cite
  • Citations: 117
• Journal article
  Servitja JM, Ferrer J, 2004,
  , DIABETOLOGIA, Vol: 47, Pages: 597-613, ISSN: 0012-186X
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  • Citations: 176
• Journal article
  Maestro MA, Boj SF, Luco RF, Pierreux CE, Cabedo J, Servitja JM, German MS, Rousseau GG, Lemaigre FP, Ferrer Jet al., 2003,
  , HUMAN MOLECULAR GENETICS, Vol: 12, Pages: 3307-3314, ISSN: 0964-6906
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  • Citations: 120
• Journal article
  Ferrer J, 2002,
  , DIABETES, Vol: 51, Pages: 2355-2362, ISSN: 0012-1797
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  • Citations: 65
• Journal article
  Boj SF, Párrizas M, Maestro MA, Ferrer Jet al., 2001,
  , PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Vol: 98, Pages: 14481-14486, ISSN: 0027-8424
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  • Citations: 201
• Journal article
  Hansen T, Ambye L, Grarup N, Hansen L, Echwald SM, Ferrer J, Pedersen Oet al., 2001,
  , DIABETOLOGIA, Vol: 44, Pages: 1330-1334, ISSN: 0012-186X
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  • Citations: 24
• Journal article
  Párrizas M, Maestro MA, Boj SF, Paniagua A, Casamitjana R, Gomis R, Rivera F, Ferrer Jet al., 2001,
  , MOLECULAR AND CELLULAR BIOLOGY, Vol: 21, Pages: 3234-3243, ISSN: 0270-7306
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  • Citations: 123
• Journal article
  Hansen T, Echwald SM, Hansen L, Moller AM, Almind K, Clausen JO, Urhammer SA, Inoue H, Ferrer J, Bryan J, Aguilar-Bryan L, Permutt MA, Pedersen Oet al., 1998,
  , DIABETES, Vol: 47, Pages: 598-605, ISSN: 0012-1797
  • Cite
  • Citations: 96

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