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.

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Minton, J, van de Bunt, M, Boustred, C, Hussain, K, Hattersley, A, Ellard, S, Gloyn, A
التنسيق:	Journal article
اللغة:	English
منشور في:	2007

مواد مشابهة

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.
حسب: Edghill, E, وآخرون
منشور في: (2009)

Monogenic disorders of the pancreatic β-cell: Personalizing treatment for rare forms of diabetes and hypoglycemia
حسب: van de Bunt, M, وآخرون
منشور في: (2007)

Defining the genetic aetiology of monogenic diabetes can improve treatment.
حسب: Gloyn, A, وآخرون
منشور في: (2006)

Monogenic β-cell dysfunction in children: Clinical phenotypes, genetic etiology and mutational pathways
حسب: Waterfield, T, وآخرون
منشور في: (2008)

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.
حسب: Edghill, E, وآخرون
منشور في: (2010)

The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes
حسب: Laver, T, وآخرون
منشور في: (2016)

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.
حسب: Flanagan, SE, وآخرون
منشور في: (2006)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
حسب: van de Bunt, M, وآخرون
منشور في: (2008)

Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.
حسب: Pascoe, L, وآخرون
منشور في: (2007)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
حسب: Gloyn, A, وآخرون
منشور في: (2002)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
حسب: Steele, A, وآخرون
منشور في: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
حسب: Steele, A, وآخرون
منشور في: (2011)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
حسب: Chakera, A, وآخرون
منشور في: (2014)

Spontaneous Pancreatitis Caused by Tissue-Specific Gene Ablation of Hhex in MiceSummary
حسب: Mark J. Ferreira, وآخرون
منشور في: (2015-09-01)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
حسب: Gloyn, A, وآخرون
منشور في: (2008)

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
حسب: Gloyn, A, وآخرون
منشور في: (2006)

Modelling monogenic diabetes mutations using authentic human beta cell models
حسب: Duff, C
منشور في: (2020)

Precision treatment of beta-cell monogenic diabetes: a systematic review
حسب: Rochelle N. Naylor, وآخرون
منشور في: (2024-07-01)

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.
حسب: Gloyn, A, وآخرون
منشور في: (2004)

The proline rich homeodomain protein PRH/Hhex forms stable oligomers that are highly resistant to denaturation.
حسب: Anshuman Shukla, وآخرون
منشور في: (2012-01-01)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
حسب: Raimondo, A, وآخرون
منشور في: (2014)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
حسب: Flanagan, SE, وآخرون
منشور في: (2007)

Monogenic Causes of Proteinuria in Children
حسب: Onur Cil, وآخرون
منشور في: (2018-03-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
حسب: Gloyn, A, وآخرون
منشور في: (2009)

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
حسب: Beer, N, وآخرون
منشور في: (2011)

The transcription factor Hhex regulates inflammation-related genes in microglia
حسب: Risa Sakate, وآخرون
منشور في: (2022-07-01)

HHEX：a crosstalker between HCMV infection and proliferation of VSMCs
حسب: Lingfang Li, وآخرون
منشور في: (2016-11-01)

Overview of Monogenic or Mendelian Forms of Hypertension
حسب: Rupesh Raina, وآخرون
منشور في: (2019-07-01)

Genomic screening for monogenic forms of diabetes
حسب: Leslie G. Biesecker
منشور في: (2018-02-01)

Liver development is restored by blastocyst complementation of HHEX knockout in mice and pigs
حسب: M. Ruiz-Estevez, وآخرون
منشور في: (2021-05-01)

Hhex induces promyelocyte self-renewal and cooperates with growth factor independence to cause myeloid leukemia in mice
حسب: Jacob T. Jackson, وآخرون
منشور في: (2018-02-01)

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
حسب: Khera, Amit V., وآخرون
منشور في: (2020)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
حسب: Vaxillaire, M, وآخرون
منشور في: (2004)

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome
حسب: Julie Thompson Legault, وآخرون
منشور في: (2015-11-01)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
حسب: Flanagan, SE, وآخرون
منشور في: (2008)

Monogenic causes of familial short stature
حسب: Lukas Plachy, وآخرون
منشور في: (2024-12-01)

New Insights Into Monogenic Causes of Osteoporosis
حسب: Riikka E. Mäkitie, وآخرون
منشور في: (2019-02-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
حسب: Gloyn, A, وآخرون
منشور في: (2007)

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
حسب: Edghill, E, وآخرون
منشور في: (2007)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
حسب: S Schnyder, وآخرون
منشور في: (2005-06-01)