Condition: Donohue Syndrome


rs121913136 in INSR gene and Donohue Syndrome PMID 9703342 1998 Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.

PMID 8326490 1993 A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

PMID 8188715 1994 A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.

PMID 9249867 1997 Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.

PMID 22768670 2012 A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

PMID 8636294 1996 Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.

PMID 8419945 1993 Activation of glucose transport by a natural mutation in the human insulin receptor.

PMID 9299395 1997 Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.

PMID 2365819 1990 Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

PMID 2834824 1988 Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

PMID 28765322 2017 Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

PMID 2479553 1989 A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.

PMID 7538143 1995 Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis.

PMID 12538626 2003 Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.

PMID 12970295 2003 Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.

PMID 1607067 1992 Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.

PMID 24498630 2014 Two novel mutations identified in familial cases with Donohue syndrome.

PMID 1730625 1992 An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport.

PMID 7815442 1994 Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.

PMID 12023989 2002 Genotype-phenotype correlation in inherited severe insulin resistance.

PMID 2365819 1990 The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor.

PMID 8188715 1994 Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.

PMID 12970295 2003 A patient with leprechaunism is compound heterozygous for the previously described Arg1092Trp mutation and a nonsense mutation in codon 897.

PMID 26874853 2016 First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.