Literature DB >> 34196608

100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function.

Jennifer M Ikle1, Anna L Gloyn1,2.   

Abstract

Since the discovery of insulin 100 years ago, our knowledge and understanding of diabetes have grown exponentially. Specifically, with regards to the genetics underlying diabetes risk, our discoveries have paralleled developments in our understanding of the human genome and our ability to study genomics at scale; these advancements in genetics have both accompanied and led to those in diabetes treatment. This review will explore the timeline and history of gene discovery and how this has coincided with progress in the fields of genomics. Examples of genetic causes of monogenic diabetes are presented and the continuing expansion of allelic series in these genes and the challenges these now cause for diagnostic interpretation along with opportunities for patient stratification are discussed.

Entities:  

Keywords:  b-cell development; diabetes; genomics; pancreas

Mesh:

Substances:

Year:  2021        PMID: 34196608      PMCID: PMC9037733          DOI: 10.1530/JOE-21-0067

Source DB:  PubMed          Journal:  J Endocrinol        ISSN: 0022-0795            Impact factor:   4.669


  120 in total

1.  Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Authors:  Matthew B Johnson; Elisa De Franco; Hana Lango Allen; Aisha Al Senani; Nancy Elbarbary; Zeynep Siklar; Merih Berberoglu; Zineb Imane; Alireza Haghighi; Zahra Razavi; Irfan Ullah; Saif Alyaarubi; Daphne Gardner; Sian Ellard; Andrew T Hattersley; Sarah E Flanagan
Journal:  Diabetes       Date:  2017-05-04       Impact factor: 9.461

2.  Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

Authors:  Elisa De Franco; Sarah E Flanagan; Takuya Yagi; Damien Abreu; Jana Mahadevan; Matthew B Johnson; Garan Jones; Fernanda Acosta; Mphele Mulaudzi; Ngee Lek; Vera Oh; Oliver Petz; Richard Caswell; Sian Ellard; Fumihiko Urano; Andrew T Hattersley
Journal:  Diabetes       Date:  2017-05-03       Impact factor: 9.461

3.  Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.

Authors:  P Froguel; M Vaxillaire; F Sun; G Velho; H Zouali; M O Butel; S Lesage; N Vionnet; K Clément; F Fougerousse
Journal:  Nature       Date:  1992-03-12       Impact factor: 49.962

4.  Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

Authors:  Anna L Gloyn; Elizabeth A Cummings; Emma L Edghill; Lorna W Harries; Rachel Scott; Teresa Costa; I Karen Temple; Andrew T Hattersley; Sian Ellard
Journal:  J Clin Endocrinol Metab       Date:  2004-08       Impact factor: 5.958

5.  Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young.

Authors:  G Velho; P Froguel; K Clement; M E Pueyo; B Rakotoambinina; H Zouali; P Passa; D Cohen; J J Robert
Journal:  Lancet       Date:  1992-08-22       Impact factor: 79.321

6.  Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors:  Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

Review 7.  Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature.

Authors:  Rongrong Chen; Khalid Hussain; Maryam Al-Ali; Mehul T Dattani; Peter Hindmarsh; Peter M Jones; Phil Marsh
Journal:  Pediatrics       Date:  2008-06       Impact factor: 7.124

Review 8.  Monogenic diabetes: a gateway to precision medicine in diabetes.

Authors:  Haichen Zhang; Kevin Colclough; Anna L Gloyn; Toni I Pollin
Journal:  J Clin Invest       Date:  2021-02-01       Impact factor: 14.808

9.  The Krüppel-like zinc finger protein Glis3 directly and indirectly activates insulin gene transcription.

Authors:  Yisheng Yang; Benny Hung-Junn Chang; Susan L Samson; Ming V Li; Lawrence Chan
Journal:  Nucleic Acids Res       Date:  2009-03-05       Impact factor: 16.971

10.  Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.

Authors:  S Ellard; C Bellanné-Chantelot; A T Hattersley
Journal:  Diabetologia       Date:  2008-02-23       Impact factor: 10.122

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  1 in total

1.  Analysis of 16 studies in nine rodent models does not support the hypothesis that diabetic polyuria is a main reason of urinary bladder enlargement.

Authors:  Zeynep E Yesilyurt; Jan Matthes; Edith Hintermann; Tamara R Castañeda; Ralf Elvert; Jesus H Beltran-Ornelas; Diana L Silva-Velasco; Ning Xia; Aimo Kannt; Urs Christen; David Centurión; Huige Li; Andrea Pautz; Ebru Arioglu-Inan; Martin C Michel
Journal:  Front Physiol       Date:  2022-08-08       Impact factor: 4.755

  1 in total

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