(Q37095214)

18 August 2017

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title

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes (English)

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18 August 2017

Sian Ellard

2

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Andrew Tym Hattersley

series ordinal

3

object named as

Andrew T Hattersley

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18 August 2017

1

Rinki Murphy

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18 August 2017

26 February 2008

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Nature Clinical Practice Endocrinology and Metabolism

18 August 2017

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18 August 2017

4

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18 August 2017

200-213

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18 August 2017

4

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https://scigraph.springernature.com/pub.10.1038/ncpendmet0778

18 August 2017

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Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells

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Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase

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7 January 2021

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

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7 January 2021

Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation

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7 January 2021

Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism

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7 January 2021

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

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7 January 2021

Permanent diabetes mellitus in the first year of life

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7 January 2021

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

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7 January 2021

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

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7 January 2021

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

1 reference

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7 January 2021

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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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

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7 January 2021

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

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7 January 2021

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

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7 January 2021

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

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https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Transient neonatal diabetes, a disorder of imprinting.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Evolution of the glucokinase glucose sensor paradigm for pancreatic beta cells

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

The genetic abnormality in the beta cell determines the response to an oral glucose load

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Influence of maternal and fetal glucokinase mutations in gestational diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations in the glucokinase gene of the fetus result in reduced birth weight.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Chronic diabetic complications in patients with MODY3 diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Genetic cause of hyperglycaemia and response to treatment in diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

A comparison of glyburide and insulin in women with gestational diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

PAX4 mutations in Thais with maturity onset diabetes of the young

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mitochondrial diabetes: molecular mechanisms and clinical presentation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Insulin and proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNA(Leu(UUR)) mutation.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Permanent neonatal diabetes in an Asian infant.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0778

7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0778

1 reference

PubMed ID

18301398

Dimensions Publication ID

18 August 2017

0 references

1 reference

PubMed ID

18301398