Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

Podrobná bibliografie
Hlavní autoři:	Minton, J, van de Bunt, M, Boustred, C, Hussain, K, Hattersley, A, Ellard, S, Gloyn, A
Médium:	Journal article
Jazyk:	English
Vydáno:	2007

Podobné jednotky

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Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
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Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.
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The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
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The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
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Spontaneous Pancreatitis Caused by Tissue-Specific Gene Ablation of Hhex in MiceSummary
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Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
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The proline rich homeodomain protein PRH/Hhex forms stable oligomers that are highly resistant to denaturation.
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Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
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Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
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Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
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The transcription factor Hhex regulates inflammation-related genes in microglia
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Genomic screening for monogenic forms of diabetes
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Liver development is restored by blastocyst complementation of HHEX knockout in mice and pigs
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Hhex induces promyelocyte self-renewal and cooperates with growth factor independence to cause myeloid leukemia in mice
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Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
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Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
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Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
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Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
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