Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life-Reference-Cited by-同舟云学术

Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life

Published:2020-08-07 Issue:7 Volume:21 Page:1169-1175
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Demiral Meliha¹^ORCID,Demirbilek Huseyin²^ORCID,Çelik Kıymet³,Okur Nilufer³,Hussain Khalid⁴^ORCID,Ozbek Mehmet Nuri¹

Affiliation:

1. Gazi Yaşargil Research and Training Hospital Pediatric Endocrinology Diyarbakır Turkey

2. Hacettepe University Faculty of Medicine Department of Pediatric Endocrinology Ankara Turkey

3. Gazi Yaşargil Research and Training Hospital Neonatology Diyarbakır Turkey

4. Department of Pediatrics, Division of Endocrinology Sidra Medicine Doha Qatar

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pedi.13079

Reference26 articles.

1. Care of Young Children With Diabetes in the Child Care Setting: A Position Statement of the American Diabetes Association

2. Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings

3. Permanent neonatal diabetes caused by a novel mutation in the INS gene

4. Neonatal diabetes in an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring

5. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations

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1. A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease;Cells;2023-03-25

2. Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age;Journal of Pediatric Endocrinology and Metabolism;2022-02-28

3. Homozygous Insulin Promotor Gene Mutation Causing Permanent Neonatal Diabetes Mellitus and Childhood Onset Autoantibody Negative Diabetes in the Same Family;International Medical Case Reports Journal;2022-02

4. A Novel Nonsense INS Mutation Causes Inefficient Preproinsulin Translocation Into the Endoplasmic Reticulum;Frontiers in Endocrinology;2022-01-05

5. A bioinformatics analysis of the contribution of m6A methylation to the occurrence of diabetes mellitus;Endocrine Connections;2021-10-01