Literature DB >> 28681398

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Thomas W Laver1, Michael N Weedon1, Richard Caswell1, Khalid Hussain2, Sian Ellard1, Sarah E Flanagan1.   

Abstract

Entities:  

Keywords:  UCP2; congenital hyperinsulinism; genetics; hypoglycaemia

Mesh：

Substances：

Year:  2017        PMID： 28681398      PMCID： PMC6815675          DOI： 10.1002/humu.23289

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  10 in total

1.  Familial hyperinsulinism caused by an activating glucokinase mutation.

Authors:  B Glaser; P Kesavan; M Heyman; E Davis; A Cuesta; A Buchs; C A Stanley; P S Thornton; M A Permutt; F M Matschinsky; K C Herold
Journal:  N Engl J Med       Date:  1998-01-22       Impact factor: 91.245

Review 2.  Genetics of neonatal hyperinsulinism.

Authors:  B Glaser; P Thornton; T Otonkoski; C Junien
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

3.  Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Authors:  K E Snider; S Becker; L Boyajian; S-L Shyng; C MacMullen; N Hughes; K Ganapathy; T Bhatti; C A Stanley; A Ganguly
Journal:  J Clin Endocrinol Metab       Date:  2012-12-28       Impact factor: 5.958

4.  UCP2 transports C4 metabolites out of mitochondria, regulating glucose and glutamine oxidation.

Authors:  Angelo Vozza; Giovanni Parisi; Francesco De Leonardis; Francesco M Lasorsa; Alessandra Castegna; Daniela Amorese; Raffaele Marmo; Valeria M Calcagnile; Luigi Palmieri; Daniel Ricquier; Eleonora Paradies; Pasquale Scarcia; Ferdinando Palmieri; Frédéric Bouillaud; Giuseppe Fiermonte
Journal:  Proc Natl Acad Sci U S A       Date:  2014-01-06       Impact factor: 11.205

5.  A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

Authors:  T Otonkoski; C Ammälä; H Huopio; G J Cote; J Chapman; K Cosgrove; R Ashfield; E Huang; J Komulainen; F M Ashcroft; M J Dunne; J Kere; P M Thomas
Journal:  Diabetes       Date:  1999-02       Impact factor: 9.461

6.  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.

Authors:  Anna L Gloyn; Michael N Weedon; Katharine R Owen; Martina J Turner; Bridget A Knight; Graham Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Stephanie Halford; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Journal:  Diabetes       Date:  2003-02       Impact factor: 9.461

7.  Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

Authors:  Christine T Ferrara; Kara E Boodhansingh; Eleonora Paradies; Giuseppe Fiermonte; Linda J Steinkrauss; Lisa Swartz Topor; Jose Bernardo Quintos; Arupa Ganguly; Diva D De Leon; Ferdinando Palmieri; Charles A Stanley
Journal:  J Clin Endocrinol Metab       Date:  2017-03-01       Impact factor: 5.958

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

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

Authors:  M Mar González-Barroso; Irina Giurgea; Fredéric Bouillaud; Andrea Anedda; Christine Bellanné-Chantelot; Laurence Hubert; Yves de Keyzer; Pascale de Lonlay; Daniel Ricquier
Journal:  PLoS One       Date:  2008-12-09       Impact factor: 3.240

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

Authors:  S Ellard; H Lango Allen; E De Franco; S E Flanagan; G Hysenaj; K Colclough; J A L Houghton; M Shepherd; A T Hattersley; M N Weedon; R Caswell
Journal:  Diabetologia       Date:  2013-06-15       Impact factor: 10.122
  10 in total
  7 in total

1.  Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.

Authors:  Sian Ellard; Kevin Colclough; Kashyap A Patel; Andrew T Hattersley
Journal:  J Clin Invest       Date:  2020-01-02       Impact factor: 14.808

Review 2.  Congenital hyperinsulinism disorders: Genetic and clinical characteristics.

Authors:  Elizabeth Rosenfeld; Arupa Ganguly; Diva D De Leon
Journal:  Am J Med Genet C Semin Med Genet       Date:  2019-08-14       Impact factor: 3.908

Review 3.  Genetic characteristics of patients with congenital hyperinsulinism.

Authors:  Mary Ellen Vajravelu; Diva D De León
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

Review 4.  Congenital Hyperinsulinism: Diagnosis and Treatment Update.

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

5.  Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Authors:  Thomas W Laver; Matthew N Wakeling; Janet Hong Yeow Hua; Jayne A L Houghton; Khalid Hussain; Sian Ellard; Sarah E Flanagan
Journal:  Clin Endocrinol (Oxf)       Date:  2018-09-20       Impact factor: 3.478

Review 6.  Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.

Authors:  Maria Gϋemes; Sofia Asim Rahman; Ritika R Kapoor; Sarah Flanagan; Jayne A L Houghton; Shivani Misra; Nick Oliver; Mehul Tulsidas Dattani; Pratik Shah
Journal:  Rev Endocr Metab Disord       Date:  2020-12       Impact factor: 6.514

7.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504
  7 in total

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