(Q87421927)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25048417%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes (English)

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10 March 2020

1

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10 March 2020

Aldesia Provenzano

2

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10 March 2020

Benedetta Mazzinghi

3

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10 March 2020

Sabrina Giglio

13

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10 March 2020

author name string

L Giunti

4

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10 March 2020

V Palazzo

5

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10 March 2020

E Andreucci

6

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10 March 2020

A Blasetti

7

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10 March 2020

R M Chiuri

8

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10 March 2020

F E Gianiorio

9

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10 March 2020

P Mandich

10

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10 March 2020

M Monami

11

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10 March 2020

E Mannucci

12

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10 March 2020

publication date

22 July 2014

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The Pharmacogenomics Journal

10 March 2020

published in

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10 March 2020

volume

15

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10 March 2020

issue

1

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10 March 2020

page(s)

49-54

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Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

10 March 2020

cites work

1 reference

12 December 2020

RFX6 is needed for the development and maintenance of the β-cell phenotype.

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12 December 2020

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

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12 December 2020

Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development

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12 December 2020

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

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12 December 2020

Transcriptional regulatory factor X6 (Rfx6) increases gastric inhibitory polypeptide (GIP) expression in enteroendocrine K-cells and is involved in GIP hypersecretion in high fat diet-induced obesity.

1 reference

12 December 2020

MODY: history, genetics, pathophysiology, and clinical decision making

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12 December 2020

Heterozygous ABCC8 mutations are a cause of MODY

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12 December 2020

Rfx6 directs islet formation and insulin production in mice and humans

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12 December 2020

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

1 reference

12 December 2020

Maturity onset diabetes of the young: clinical characteristics, diagnosis and management

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12 December 2020

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

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12 December 2020

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

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12 December 2020

Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes

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12 December 2020

Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes

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12 December 2020

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

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12 December 2020

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

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12 December 2020

Phenotypic characteristics of early Wolfram syndrome

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12 December 2020

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

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12 December 2020

Influence of genetic polymorphisms on the pharmacokinetics and pharmaco-dynamics of sulfonylurea drugs.

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12 December 2020

The effect of substituted thiophene and benzothiophene derivates on PPARgamma expression and glucose metabolism

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12 December 2020

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

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12 December 2020

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

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12 December 2020

Identifiers

DOI

10.1038/TPJ.2014.37

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10 March 2020

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