Newly defined genetic diabetes syndromes: maturity onset diabetes of the young (Q35078478)

6 August 2017

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title

Newly defined genetic diabetes syndromes: maturity onset diabetes of the young (English)

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6 August 2017

William E Winter

1

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6 August 2017

1 March 2003

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Reviews in Endocrine and Metabolic Disorders

6 August 2017

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6 August 2017

4

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6 August 2017

1

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6 August 2017

43-51

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https://scigraph.springernature.com/pub.10.1023/a:1021823419393

6 August 2017

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Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM

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12 December 2020

Maturity-onset diabetes of the young (MODY): a new challenge for pediatric diabetologists

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12 December 2020

No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY

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12 December 2020

Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus

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12 December 2020

Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects

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12 December 2020

Diagnostic heterogeneity of diabetes in lean young adults: classification based on immunological and genetic parameters

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Homeobox gene Nkx6.1 lies downstream of Nkx2.2 in the major pathway of beta-cell formation in the pancreas.

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Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young

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Scope and heterogeneous nature of MODY.

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Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations

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12 December 2020

A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus

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12 December 2020

beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.

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12 December 2020

Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4alpha/MODY1 gene

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12 December 2020

Phenotypic characteristics of early-onset autosomal-dominant type 2 diabetes unlinked to known maturity-onset diabetes of the young (MODY) genes.

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12 December 2020

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

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12 December 2020

Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3 beta and mutation screening in Japanese subjects with maturity-onset diabetes of the young

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Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice

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

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Hepatocyte nuclear factor-1 alpha G319S. A private mutation in Oji-Cree associated with type 2 diabetes

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Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction

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12 December 2020

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing

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12 December 2020

A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan

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

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12 December 2020

Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus

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12 December 2020

Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4alpha in Caucasians with maturity onset NIDDM

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Monogenic diabetes mellitus in youth. The MODY syndromes

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A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1α (HNF-1α) gene

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A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese

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12 December 2020

Genetic variation in the hepatocyte nuclear factor (HNF)-3alpha gene does not contribute to maturity-onset diabetes of the young in Japanese

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12 December 2020

Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene).

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Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10.

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Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history

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12 December 2020

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

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12 December 2020

Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young.

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12 December 2020

Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q.

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12 December 2020

Phenotypic correction of diabetic mice by adenovirus-mediated glucokinase expression

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Pax4 regulatory elements mediate beta cell specific expression in the pancreas

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PAX6 mutation as a genetic factor common to aniridia and glucose intolerance

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American Diabetes Association: clinical practice recommendations 2002

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Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

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12 December 2020

Linkage Analyses of the MODY3 Locus on Chromosome 12q With Late-Onset NIDDM

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12 December 2020

Mutation screening of the hepatocyte nuclear factor (HNF)-6 gene in Japanese subjects with diabetes mellitus

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12 December 2020

A Difference Between the Inheritance of Classical Juvenile-onset and Maturity-onset Type Diabetes of Young People

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12 December 2020

Familial hyperinsulinism caused by an activating glucokinase mutation

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12 December 2020

Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having Type I diabetes

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12 December 2020

Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization

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12 December 2020

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

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12 December 2020

Localization of MODY3 to a 5-cM Region of Human Chromosome 12

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12 December 2020

No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France

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12 December 2020

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

1 reference

12 December 2020

NeuroD/beta2 gene G-->A polymorphism may affect onset pattern of type 1 diabetes in Japanese

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1b

1 reference

12 December 2020

Polymorphisms in the neurogenin 3 gene (NEUROG) and their relation to altered insulin secretion and diabetes in the Danish Caucasian population

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.

1 reference

12 December 2020

Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus

1 reference

12 December 2020

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

1 reference

12 December 2020

Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese

1 reference

12 December 2020

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes

1 reference

12 December 2020

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors

1 reference

12 December 2020

Maturity-onset diabetes of youth in black Americans

1 reference

12 December 2020

Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese

1 reference

12 December 2020

The Ala/Val98 polymorphism of the hepatocyte nuclear factor-1alpha gene contributes to the interindividual variation in serum C-peptide response during an oral glucose tolerance test: evidence from studies of 231 glucose-tolerant first degree relativ

1 reference

12 December 2020

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.

1 reference

12 December 2020

Identification and functional analysis of mutations in the hepatocyte nuclear factor-1alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes

1 reference

12 December 2020

Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young

1 reference

12 December 2020

Mutation screening of the neurogenin-3 gene in autosomal dominant diabetes.

1 reference

12 December 2020

Glucokinase gene mutation and impaired glucose uptake by liver

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12 December 2020

Genetic variation in the hepatocyte nuclear factor-3beta gene (HNF3B) does not contribute to maturity-onset diabetes of the young in French Caucasians

1 reference

12 December 2020

Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes

1 reference

12 December 2020

A novel missense mutation in the homeodomain of the hepatocyte nuclear factor-1alpha/maturity-onset diabetes of the young 3 in a Japanese early-onset type 2 diabetic patient and time-course of glucose-stimulated insulin secretion

1 reference

12 December 2020

Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree.

1 reference

12 December 2020

Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities.

1 reference

12 December 2020

Variants of neurogenin 3 gene are not associated with Type II diabetes in Japanese subjects

1 reference

12 December 2020

Glucokinase gene variants in subjects with late-onset NIDDM and impaired glucose tolerance

1 reference

12 December 2020

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins

1 reference

12 December 2020

The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas

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12 December 2020

Lilly Lecture 1994. The beta-cell in diabetes: from molecular genetics to clinical research

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12 December 2020

Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative

1 reference

12 December 2020

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

12 December 2020

Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians

1 reference

12 December 2020

Influence of maternal and fetal glucokinase mutations in gestational diabetes

1 reference

12 December 2020

Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein

1 reference

12 December 2020

Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects

1 reference

12 December 2020

Novel mutations and a mutational hotspot in the MODY3 gene

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1021823419393

1 reference

PubMed ID

12618559

Dimensions Publication ID

6 August 2017

0 references

1 reference

PubMed ID

12618559