Literature DB >> 27474196

Hypoglycaemia revealing heterozygous insulin receptor mutations.

V Preumont1, C Feincoeur1, O Lascols2, C Courtillot3, P Touraine3, D Maiter1, C Vigouroux4.   

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Year:  2016        PMID： 27474196      PMCID： PMC5643506          DOI： 10.1016/j.diabet.2016.07.001

Source DB:  PubMed          Journal:  Diabetes Metab        ISSN： 1262-3636            Impact factor:   6.041


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  6 in total

1.  Type B Insulin-resistance syndrome: a cause of reversible autoimmune hypoglycaemia.

Authors:  Olivier Bourron; Martine Caron-Debarle; Miguel Hie; Zahir Amoura; Fabrizio Andreelli; Marine Halbron; Michelle Fonfrede; Gaëlle Leroux; Corinne Vigouroux; Agnès Hartemann
Journal:  Lancet       Date:  2014-10-25       Impact factor: 79.321

2.  Genotype-phenotype correlation in inherited severe insulin resistance.

Authors:  Nicola Longo; Yuhuan Wang; Shelley A Smith; Sharon D Langley; Linda A DiMeglio; Daniel Giannella-Neto
Journal:  Hum Mol Genet       Date:  2002-06-01       Impact factor: 6.150

3.  Hyperinsulinaemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor (IR) gene.

Authors:  Zhimin Huang; Yanbing Li; Tianyi Tang; Wen Xu; Zhihong Liao; Bin Yao; Guoliang Hu; Jianping Weng
Journal:  Clin Endocrinol (Oxf)       Date:  2009-01-19       Impact factor: 3.478

Review 4.  Autoimmune forms of hypoglycemia.

Authors:  Beatrice C Lupsa; Angeline Y Chong; Elaine K Cochran; Maria A Soos; Robert K Semple; Phillip Gorden
Journal:  Medicine (Baltimore)       Date:  2009-05       Impact factor: 1.889

5.  Substitution of isoleucine for methionine at position 1153 in the beta-subunit of the human insulin receptor. A mutation that impairs receptor tyrosine kinase activity, receptor endocytosis, and insulin action.

Authors:  A Cama; M J Quon; M de la Luz Sierra; S I Taylor
Journal:  J Biol Chem       Date:  1992-04-25       Impact factor: 5.157

6.  A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.

Authors:  Kurt Højlund; Torben Hansen; Maria Lajer; Jan Erik Henriksen; Klaus Levin; Jörgen Lindholm; Oluf Pedersen; Henning Beck-Nielsen
Journal:  Diabetes       Date:  2004-06       Impact factor: 9.461
  6 in total
  1 in total

1.  Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Authors:  Aashish Sethi; Nicola Foulds; Sarah Ehtisham; Syed Haris Ahmed; Jayne Houghton; Kevin Colclough; Mohammed Didi; Sarah E. Flanagan; Senthil Senniappan
Journal:  J Clin Res Pediatr Endocrinol       Date:  2020-01-28
  1 in total

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