Literature DB >> 16502298

Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.

S S Fajans, G I Bell.   

Abstract

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Year:  2006        PMID： 16502298     DOI： 10.1007/s00125-006-0158-y

Source DB:  PubMed          Journal:  Diabetologia        ISSN： 0012-186X            Impact factor:   10.122


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  10 in total

1.  Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism.

Authors:  M Lehto; P O Bitzén; B Isomaa; C Wipemo; Y Wessman; C Forsblom; T Tuomi; M R Taskinen; L Groop
Journal:  Diabetes       Date:  1999-02       Impact factor: 9.461

2.  beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

Authors:  T M Frayling; J C Evans; M P Bulman; E Pearson; L Allen; K Owen; C Bingham; M Hannemann; M Shepherd; S Ellard; A T Hattersley
Journal:  Diabetes       Date:  2001-02       Impact factor: 9.461

3.  Are glucokinase mutations associated with low triglycerides?

Authors:  Mario Berger; Detlev Mönks; Henriette Schmidt; Vera Krane; Christoph Wanner; Ulrich Walter; Tom H Lindner
Journal:  Clin Chem       Date:  2005-04       Impact factor: 8.327

4.  Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Authors:  G Velho; H Blanché; M Vaxillaire; C Bellanné-Chantelot; V C Pardini; J Timsit; P Passa; I Deschamps; J J Robert; I T Weber; D Marotta; S J Pilkis; G M Lipkind; G I Bell; P Froguel
Journal:  Diabetologia       Date:  1997-02       Impact factor: 10.122

5.  Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.

Authors:  T Lindner; C Gragnoli; H Furuta; B N Cockburn; C Petzold; H Rietzsch; U Weiss; J Schulze; G I Bell
Journal:  J Clin Invest       Date:  1997-09-15       Impact factor: 14.808

6.  Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels.

Authors:  D Q Shih; H M Dansky; M Fleisher; G Assmann; S S Fajans; M Stoffel
Journal:  Diabetes       Date:  2000-05       Impact factor: 9.461

Review 7.  Scope and heterogeneous nature of MODY.

Authors:  S S Fajans
Journal:  Diabetes Care       Date:  1990-01       Impact factor: 19.112

8.  Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.

Authors:  E R Pearson; S Pruhova; C J Tack; A Johansen; H A J Castleden; P J Lumb; A S Wierzbicki; P M Clark; J Lebl; O Pedersen; S Ellard; T Hansen; A T Hattersley
Journal:  Diabetologia       Date:  2005-04-14       Impact factor: 10.122

Review 9.  Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Authors:  Anna L Gloyn
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

10.  The genetic abnormality in the beta cell determines the response to an oral glucose load.

Authors:  A Stride; M Vaxillaire; T Tuomi; F Barbetti; P R Njølstad; T Hansen; A Costa; I Conget; O Pedersen; O Søvik; R Lorini; L Groop; P Froguel; A T Hattersley
Journal:  Diabetologia       Date:  2002-03       Impact factor: 10.122
  10 in total
  13 in total

1.  Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

Authors:  Fabrizio Barbetti; Nadia Cobo-Vuilleumier; Carlo Dionisi-Vici; Sonia Toni; Paolo Ciampalini; Ornella Massa; Pablo Rodriguez-Bada; Carlo Colombo; Lorenzo Lenzi; María A Garcia-Gimeno; Francisco J Bermudez-Silva; Fernando Rodriguez de Fonseca; Patrizia Banin; Juan C Aledo; Elena Baixeras; Pascual Sanz; Antonio L Cuesta-Muñoz
Journal:  Mol Endocrinol       Date:  2009-11-02

2.  Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

Authors:  Diana E Stanescu; Nkecha Hughes; Bernard Kaplan; Charles A Stanley; Diva D De León
Journal:  J Clin Endocrinol Metab       Date:  2012-07-16       Impact factor: 5.958

3.  Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.

Authors:  Maria Galán; Carmen-Maria García-Herrero; Sharona Azriel; Manuel Gargallo; Maria Durán; Juan-Jose Gorgojo; Victor-Manuel Andía; Maria-Angeles Navas
Journal:  Mol Med       Date:  2010-12-15       Impact factor: 6.354

4.  Where to for precision treatment of HNF1A-MODY?

Authors:  Caroline Bonner; Chiara Saponaro
Journal:  Diabetologia       Date:  2022-04-12       Impact factor: 10.460

5.  Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).

Authors:  S S Fajans; G I Bell
Journal:  Diabetologia       Date:  2007-09-22       Impact factor: 10.122

Review 6.  MODY: history, genetics, pathophysiology, and clinical decision making.

Authors:  Stefan S Fajans; Graeme I Bell
Journal:  Diabetes Care       Date:  2011-08       Impact factor: 19.112

Review 7.  The Human Islet: Mini-Organ With Mega-Impact.

Authors:  John T Walker; Diane C Saunders; Marcela Brissova; Alvin C Powers
Journal:  Endocr Rev       Date:  2021-09-28       Impact factor: 25.261

8.  Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.

Authors:  Anna Wędrychowicz; Ewa Tobór; Magdalena Wilk; Ewa Ziółkowska-Ledwith; Anna Rams; Katarzyna Wzorek; Barbara Sabal; Małgorzata Stelmach; Jerzy B Starzyk
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-06-30

9.  Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Authors:  Laeya Abdoli Najmi; Ingvild Aukrust; Jason Flannick; Janne Molnes; Noel Burtt; Anders Molven; Leif Groop; David Altshuler; Stefan Johansson; Lise Bjørkhaug; Pål Rasmus Njølstad
Journal:  Diabetes       Date:  2016-11-29       Impact factor: 9.461

10.  Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).

Authors:  Antonio L Cuesta-Muñoz; Tiinamaija Tuomi; Nadia Cobo-Vuilleumier; Hanna Koskela; Stella Odili; Amanda Stride; Carol Buettger; Timo Otonkoski; Philippe Froguel; Joseph Grimsby; Maria Garcia-Gimeno; Franz M Matschinsky
Journal:  Diabetes Care       Date:  2009-11-10       Impact factor: 19.112
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