(Q49653037)

21 February 2018

title

Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. (English)

1 reference

21 February 2018

author name string

Dinesh Giri

1

1 reference

21 February 2018

Maria Lillina Vignola

2

1 reference

21 February 2018

Angelica Gualtieri

3

1 reference

21 February 2018

Valeria Scagliotti

4

1 reference

21 February 2018

Paul McNamara

5

1 reference

21 February 2018

Matthew Peak

6

1 reference

21 February 2018

Mohammed Didi

7

1 reference

21 February 2018

Carles Gaston-Massuet

8

1 reference

21 February 2018

Senthil Senniappan

9

1 reference

21 February 2018

publication date

24 August 2017

1 reference

21 February 2018

published in

Human Molecular Genetics

1 reference

21 February 2018

volume

26

1 reference

21 February 2018

issue

22

1 reference

21 February 2018

page(s)

4315-4326

1 reference

21 February 2018

Genetic regulation of pituitary gland development in human and mouse

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Familial hyperinsulinism caused by an activating glucokinase mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Exercise induced hypoglycaemic hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Multiple phenotypes in phosphoglucomutase 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

HNF-3 beta is essential for node and notochord formation in mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

The initiation of liver development is dependent on Foxa transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Compensatory roles of Foxa1 and Foxa2 during lung morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Dynamic regulation of Pdx1 enhancers by Foxa1 and Foxa2 is essential for pancreas development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

The Foxa family of transcription factors in development and metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Foxa1 and Foxa2 positively and negatively regulate Shh signalling to specify ventral midbrain progenitor identity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Foxa2 regulates multiple pathways of insulin secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Identification of transacting factors responsible for the tissue-specific expression of human glucose transporter type 2 isoform gene. Cooperative role of hepatocyte nuclear factors 1alpha and 3beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

A pancreatic beta -cell-specific enhancer in the human PDX-1 gene is regulated by hepatocyte nuclear factor 3beta (HNF-3beta ), HNF-1alpha, and SPs transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Foxa2 (HNF3beta ) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin release

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Foxa2 controls Pdx1 gene expression in pancreatic beta-cells in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX318

21 January 2018

Identifiers

DOI

10.1093/HMG/DDX318

1 reference

21 February 2018

PubMed ID

28973288

1 reference

21 February 2018