Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities (Q49653037)

21 February 2018

title

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

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21 February 2018

author name string

Dinesh Giri

1

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21 February 2018

Maria Lillina Vignola

2

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21 February 2018

Angelica Gualtieri

3

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Valeria Scagliotti

4

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Paul McNamara

5

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Matthew Peak

6

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Mohammed Didi

7

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Carles Gaston-Massuet

8

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Senthil Senniappan

9

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publication date

24 August 2017

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21 February 2018

published in

Human Molecular Genetics

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21 February 2018

volume

26

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issue

22

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page(s)

4315-4326

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Genetic regulation of pituitary gland development in human and mouse

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21 January 2018

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

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Exercise induced hypoglycaemic hyperinsulinism

21 January 2018

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

21 January 2018

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Multiple phenotypes in phosphoglucomutase 1 deficiency

21 January 2018

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Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

21 January 2018

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

21 January 2018

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The initiation of liver development is dependent on Foxa transcription factors

21 January 2018

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Compensatory roles of Foxa1 and Foxa2 during lung morphogenesis

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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Foxa2 regulates multiple pathways of insulin secretion.

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDX318

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21 February 2018

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21 February 2018