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.

Xehetasun bibliografikoak
Egile Nagusiak:	Minton, J, van de Bunt, M, Boustred, C, Hussain, K, Hattersley, A, Ellard, S, Gloyn, A
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2007

Antzeko izenburuak

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.
nork: Edghill, E, et al.
Argitaratua: (2009)

Monogenic disorders of the pancreatic β-cell: Personalizing treatment for rare forms of diabetes and hypoglycemia
nork: van de Bunt, M, et al.
Argitaratua: (2007)

Defining the genetic aetiology of monogenic diabetes can improve treatment.
nork: Gloyn, A, et al.
Argitaratua: (2006)

Monogenic β-cell dysfunction in children: Clinical phenotypes, genetic etiology and mutational pathways
nork: Waterfield, T, et al.
Argitaratua: (2008)

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.
nork: Edghill, E, et al.
Argitaratua: (2010)

The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes
nork: Laver, T, et al.
Argitaratua: (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.
nork: Flanagan, SE, et al.
Argitaratua: (2006)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
nork: van de Bunt, M, et al.
Argitaratua: (2008)

Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.
nork: Pascoe, L, et al.
Argitaratua: (2007)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
nork: Gloyn, A, et al.
Argitaratua: (2002)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
nork: Steele, A, et al.
Argitaratua: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
nork: Steele, A, et al.
Argitaratua: (2011)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
nork: Chakera, A, et al.
Argitaratua: (2014)

Spontaneous Pancreatitis Caused by Tissue-Specific Gene Ablation of Hhex in MiceSummary
nork: Mark J. Ferreira, et al.
Argitaratua: (2015-09-01)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
nork: Gloyn, A, et al.
Argitaratua: (2008)

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
nork: Gloyn, A, et al.
Argitaratua: (2006)

Modelling monogenic diabetes mutations using authentic human beta cell models
nork: Duff, C
Argitaratua: (2020)

Precision treatment of beta-cell monogenic diabetes: a systematic review
nork: Rochelle N. Naylor, et al.
Argitaratua: (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.
nork: Gloyn, A, et al.
Argitaratua: (2004)

The proline rich homeodomain protein PRH/Hhex forms stable oligomers that are highly resistant to denaturation.
nork: Anshuman Shukla, et al.
Argitaratua: (2012-01-01)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
nork: Raimondo, A, et al.
Argitaratua: (2014)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
nork: Flanagan, SE, et al.
Argitaratua: (2007)

Monogenic Causes of Proteinuria in Children
nork: Onur Cil, et al.
Argitaratua: (2018-03-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
nork: Gloyn, A, et al.
Argitaratua: (2009)

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
nork: Beer, N, et al.
Argitaratua: (2011)

The transcription factor Hhex regulates inflammation-related genes in microglia
nork: Risa Sakate, et al.
Argitaratua: (2022-07-01)

HHEX：a crosstalker between HCMV infection and proliferation of VSMCs
nork: Lingfang Li, et al.
Argitaratua: (2016-11-01)

Overview of Monogenic or Mendelian Forms of Hypertension
nork: Rupesh Raina, et al.
Argitaratua: (2019-07-01)

Genomic screening for monogenic forms of diabetes
nork: Leslie G. Biesecker
Argitaratua: (2018-02-01)

Liver development is restored by blastocyst complementation of HHEX knockout in mice and pigs
nork: M. Ruiz-Estevez, et al.
Argitaratua: (2021-05-01)

Hhex induces promyelocyte self-renewal and cooperates with growth factor independence to cause myeloid leukemia in mice
nork: Jacob T. Jackson, et al.
Argitaratua: (2018-02-01)

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
nork: Khera, Amit V., et al.
Argitaratua: (2020)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
nork: Vaxillaire, M, et al.
Argitaratua: (2004)

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome
nork: Julie Thompson Legault, et al.
Argitaratua: (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)
nork: Flanagan, SE, et al.
Argitaratua: (2008)

Monogenic causes of familial short stature
nork: Lukas Plachy, et al.
Argitaratua: (2024-12-01)

New Insights Into Monogenic Causes of Osteoporosis
nork: Riikka E. Mäkitie, et al.
Argitaratua: (2019-02-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
nork: Gloyn, A, et al.
Argitaratua: (2007)

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
nork: Edghill, E, et al.
Argitaratua: (2007)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
nork: S Schnyder, et al.
Argitaratua: (2005-06-01)