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.

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Minton, J, van de Bunt, M, Boustred, C, Hussain, K, Hattersley, A, Ellard, S, Gloyn, A
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2007

Ижил төстэй зүйлс

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.
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Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
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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 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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Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
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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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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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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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