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.

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Minton, J, van de Bunt, M, Boustred, C, Hussain, K, Hattersley, A, Ellard, S, Gloyn, A
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	2007

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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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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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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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A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
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Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
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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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