(Q34403650)

English

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.

scientific article

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and cell failure

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

Europe PubMed Central

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

0 references

1 reference

based on heuristic

inferred from title

insulin resistance

1 reference

based on heuristic

inferred from title

Timothy Barrett

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Porter JR

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

language of work or name

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publication date

16 March 2005

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

42

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

893-902

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Free fatty acids and cytokines induce pancreatic beta-cell apoptosis by different mechanisms: role of nuclear factor-kappaB and endoplasmic reticulum stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Adult pancreatic beta-cells are formed by self-duplication rather than stem-cell differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Peroxisome proliferator-activated receptor-gamma: too much of a good thing causes harm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Role of peroxisome proliferator-activated receptor-gamma in the glucose-sensing apparatus of liver and beta-cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Muscle-specific Pparg deletion causes insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Compensation by the muscle limits the metabolic consequences of lipodystrophy in PPAR gamma hypomorphic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Genetic cause of hyperglycaemia and response to treatment in diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Apoptotic signal transduction pathways in diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Targeted elimination of peroxisome proliferator-activated receptor gamma in beta cells leads to abnormalities in islet mass without compromising glucose homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Muscle-specific PPARgamma-deficient mice develop increased adiposity and insulin resistance but respond to thiazolidinediones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Gene expression in human cells with mutant insulin receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Werner syndrome protein limits MYC-induced cellular senescence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Werner syndrome and the function of the Werner protein; what they can teach us about the molecular aging process.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

The search for type 2 diabetes genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Werner Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Endoplasmic reticulum stress and the development of diabetes: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Glucose-induced beta cell production of IL-1beta contributes to glucotoxicity in human pancreatic islets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Genotype-phenotype correlation in inherited severe insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Dimerization and release of molecular chaperone inhibition facilitate activation of eukaryotic initiation factor-2 kinase in response to endoplasmic reticulum stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Peroxisomal proliferator-activated receptor-gamma upregulates glucokinase gene expression in beta-cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Reduced beta-cell mass and expression of oxidative stress-related DNA damage in the islet of Japanese Type II diabetic patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Dominant-negative suppression of HNF-1 alpha results in mitochondrial dysfunction, INS-1 cell apoptosis, and increased sensitivity to ceramide-, but not to high glucose-induced cell death.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

A unique PPARgamma ligand with potent insulin-sensitizing yet weak adipogenic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Inhibition of RXR and PPARgamma ameliorates diet-induced obesity and type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Genetics of type 1 diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Type 1 diabetes: new perspectives on disease pathogenesis and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

p53 Modulates the exonuclease activity of Werner syndrome protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Endocrine pancreas plasticity under physiological and pathological conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

The Werner syndrome protein: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Identification and functional characterization of the peroxisomal proliferator response element in rat GLUT2 promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Functional interaction between the Werner Syndrome protein and DNA polymerase delta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Improved insulin-sensitivity in mice heterozygous for PPAR-gamma deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

PPARγ Is Required for the Differentiation of Adipose Tissue In Vivo and In Vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

PPAR gamma is required for placental, cardiac, and adipose tissue development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

p53-mediated apoptosis is attenuated in Werner syndrome cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

A potent antidiabetic thiazolidinedione with unique peroxisome proliferator-activated receptor gamma-activating properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Obesity associated with a mutation in a genetic regulator of adipocyte differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Toward understanding the assembly and structure of KATP channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Positional cloning of the Werner's syndrome gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Mutations in insulin-receptor gene in insulin-resistant patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Linkage of type 2 diabetes to the glucokinase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

6 July 2018

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Liver peroxisome proliferator-activated receptor gamma contributes to hepatic steatosis, triglyceride clearance, and regulation of body fat mass.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Metabolic effects of new oral hypoglycemic agent CS-045 in NIDDM subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735963

27 October 2018

Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of a thiazolidinedione compound on body fat and fat distribution of patients with type 2 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thiamine-responsive megaloblastic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interactions between the Werner syndrome helicase and DNA polymerase delta specifically facilitate copying of tetraplex and hairpin structures of the d(CGG)n trinucleotide repeat sequence

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association Studies of Genetic Variation in the WFS1 Gene and Type 2 Diabetes in U.K. Populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adipose tissue as an endocrine and paracrine organ

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of troglitazone on body fat distribution in type 2 diabetic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No association between the Friedreich's ataxia gene and NIDDM in the French population

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

All patients with Werner's syndrome are insulin resistant, but only those who also have impaired insulin secretion develop overt diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficacy of troglitazone on body fat distribution in type 2 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased insulin binding in cultured lymphocytes from two patients with extreme insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumorigenic effect of nonfunctional p53 or p21 in mice mutant in the Werner syndrome helicase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mechanisms by which both heterozygous peroxisome proliferator-activated receptor gamma (PPARgamma) deficiency and PPARgamma agonist improve insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical review 97: Syndromes of severe insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of congenital generalized lipodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence for diabetes-associated mutations of PEK/EIF2AK3 gene in French patients with early-onset type II diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of insulin resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772126

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.030791

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15772126%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

ResearchGate publication ID

0 references

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