Literature DB >> 20931292

Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Ritika R Kapoor1, Amanda Heslegrave, Khalid Hussain.   

Abstract

Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionally, the authors give a brief overview of the role of these genes in glucose physiology and the possible mechanisms of CHI in patients with mutations in these genes.

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Year:  2010        PMID： 20931292     DOI： 10.1007/s11154-010-9148-y

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN： 1389-9155            Impact factor:   6.514


  39 in total

1.  Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.

Authors:  Changhong Li; Pan Chen; Andrew Palladino; Srinivas Narayan; Laurie K Russell; Samir Sayed; Guoxiang Xiong; Jie Chen; David Stokes; Yasmeen M Butt; Patricia M Jones; Heather W Collins; Noam A Cohen; Akiva S Cohen; Itzhak Nissim; Thomas J Smith; Arnold W Strauss; Franz M Matschinsky; Michael J Bennett; Charles A Stanley
Journal:  J Biol Chem       Date:  2010-07-29       Impact factor: 5.157

2.  Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family.

Authors:  Anders Molven; Unni Rishaug; Guri E Matre; Pål R Njølstad; Oddmund Søvik
Journal:  Am J Med Genet       Date:  2002-11-15

3.  Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.

Authors:  Olga T Hardy; Hans E Hohmeier; Thomas C Becker; Elisabetta Manduchi; Nicolai M Doliba; Rana K Gupta; Peter White; Christian J Stoeckert; Franz M Matschinsky; Christopher B Newgard; Klaus H Kaestner
Journal:  Mol Endocrinol       Date:  2006-12-21

4.  Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by K(ATP) channel mutations.

Authors:  Shannon H Fourtner; Charles A Stanley; Andrea Kelly
Journal:  J Pediatr       Date:  2006-07       Impact factor: 4.406

5.  Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

Authors:  S E Flanagan; R R Kapoor; G Mali; D Cody; N Murphy; B Schwahn; T Siahanidou; I Banerjee; T Akcay; O Rubio-Cabezas; J P H Shield; K Hussain; S Ellard
Journal:  Eur J Endocrinol       Date:  2010-02-17       Impact factor: 6.664

6.  Foxa2 regulates multiple pathways of insulin secretion.

Authors:  Kristen A Lantz; Marko Z Vatamaniuk; John E Brestelli; Joshua R Friedman; Franz M Matschinsky; Klaus H Kaestner
Journal:  J Clin Invest       Date:  2004-08       Impact factor: 14.808

7.  Pancreatic islet adaptation to fasting is dependent on peroxisome proliferator-activated receptor alpha transcriptional up-regulation of fatty acid oxidation.

Authors:  Sandrine Gremlich; Christopher Nolan; Raphaël Roduit; Rémy Burcelin; Marie-Line Peyot; Viviane Delghingaro-Augusto; Béatrice Desvergne; Liliane Michalik; Marc Prentki; Walter Wahli
Journal:  Endocrinology       Date:  2004-09-30       Impact factor: 4.736

8.  3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

Authors:  Ritika R Kapoor; Chela James; Sarah E Flanagan; Sian Ellard; Simon Eaton; Khalid Hussain
Journal:  J Clin Endocrinol Metab       Date:  2009-05-05       Impact factor: 5.958

9.  Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Authors:  Ritika R Kapoor; Jonathan Locke; Kevin Colclough; Jerry Wales; Jennifer J Conn; Andrew T Hattersley; Sian Ellard; Khalid Hussain
Journal:  Diabetes       Date:  2008-02-11       Impact factor: 9.461

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

Authors:  N J Sund; M Z Vatamaniuk; M Casey; S L Ang; M A Magnuson; D A Stoffers; F M Matschinsky; K H Kaestner
Journal:  Genes Dev       Date:  2001-07-01       Impact factor: 11.361
View more
  10 in total

1.  Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.

Authors:  Mary Ellen Vajravelu; Jinghua Chai; Bryan Krock; Samuel Baker; David Langdon; Craig Alter; Diva D De León
Journal:  J Clin Endocrinol Metab       Date:  2018-03-01       Impact factor: 5.958

Review 2.  The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.

Authors:  Klára Roženková; Maria Güemes; Pratik Shah; Khalid Hussain
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-06

Review 3.  Congenital Hyperinsulinism: Diagnosis and Treatment Update.

Authors:  Hüseyin Demirbilek; Khalid Hussain
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-12-27

Review 4.  Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years.

Authors:  Wei Yan Wang; Yi Sun; Wen Ting Zhao; Tai Wu; Liang Wang; Tian Ming Yuan; Hui Min Yu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-03-08

5.  Single-cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes.

Authors:  Nathan Lawlor; Joshy George; Mohan Bolisetty; Romy Kursawe; Lili Sun; V Sivakamasundari; Ina Kycia; Paul Robson; Michael L Stitzel
Journal:  Genome Res       Date:  2016-11-18       Impact factor: 9.043

6.  Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy. A one-decade single-center experience.

Authors:  Maryam K Al-Badi; Hanan S Al-Azkawi; Mouza S Al-Yahyaei; Waad A Mula-Abed; Aisha M Al-Senani
Journal:  Saudi Med J       Date:  2019-07       Impact factor: 1.484

7.  Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China

Authors:  Aijing Xu; Jing Cheng; Huiying Sheng; Zhe Wen; Yunting Lin; Zhihong Zhou; Chunhua Zeng; Yongxian Shao; Cuiling Li; Li Liu; Xiuzhen Li
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-06-18

Review 8.  Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.

Authors:  Zainaba Mohamed; Ved Bhushan Arya; Khalid Hussain
Journal:  J Clin Res Pediatr Endocrinol       Date:  2012-10-02

9.  Identification of gene signatures used to recognize biological characteristics of gastric cancer upon gene expression data.

Authors:  Zhi Yan; Brian T Luke; Shirley X Tsang; Rui Xing; Yuanming Pan; Yixuan Liu; Jinlian Wang; Tao Geng; Jiangeng Li; Youyong Lu
Journal:  Biomark Insights       Date:  2014-08-14

Review 10.  Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.

Authors:  Huseyin Demirbilek; Sofia A Rahman; Gonul Gulal Buyukyilmaz; Khalid Hussain
Journal:  Int J Pediatr Endocrinol       Date:  2017-08-29
  10 in total

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