Literature DB >> 24698406

Lessons from whole-exome sequencing in MODYX families.

Petra Dusatkova1, Mingyan Fang2, Stepanka Pruhova3, Anette P Gjesing4, Ondrej Cinek3, Torben Hansen5, Oluf B Pedersen6, Xun Xu2, Jan Lebl3.   

Abstract

We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.
Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  HNF1A; HNF1B; MODY; Whole-exome sequencing

Mesh:

Substances:

Year:  2014        PMID: 24698406     DOI: 10.1016/j.diabres.2014.03.008

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN: 0168-8227            Impact factor:   5.602


  4 in total

Review 1.  Undiagnosed MODY: Time for Action.

Authors:  Jeffrey W Kleinberger; Toni I Pollin
Journal:  Curr Diab Rep       Date:  2015-12       Impact factor: 4.810

Review 2.  How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.

Authors:  Martine Vaxillaire; Philippe Froguel; Amélie Bonnefond
Journal:  Curr Diab Rep       Date:  2019-08-05       Impact factor: 4.810

3.  Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference.

Authors:  Pratibha Nair; Sami Bizzari; Nirmal Rajah; Nada Assaf; Mahmoud Taleb Al-Ali; Abdul Rezzak Hamzeh
Journal:  J Transl Med       Date:  2016-04-20       Impact factor: 5.531

4.  Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.

Authors:  Khadija El Jellas; Petra Dušátková; Ingfrid S Haldorsen; Janne Molnes; Erling Tjora; Bente B Johansson; Karianne Fjeld; Stefan Johansson; Štěpánka Průhová; Leif Groop; J Matthias Löhr; Pål R Njølstad; Anders Molven
Journal:  J Clin Endocrinol Metab       Date:  2022-03-24       Impact factor: 5.958

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.