Identification of a compound heterozygous inactivating ABCC 8 gene mutation responsible for young‐onset diabetes with exome sequencing-Reference-Cited by-同舟云学术

Identification of a compound heterozygous inactivating ABCC 8 gene mutation responsible for young‐onset diabetes with exome sequencing

Published:2019-09-19 Issue:2 Volume:11 Page:333-336
ISSN:2040-1116
Container-title:Journal of Diabetes Investigation
language:en
Short-container-title:J Diabetes Investig

Author:

Matsutani Norihiko¹,Furuta Hiroto¹^ORCID,Matsuno Shohei¹,Oku Yoshimasa²,Morita Shuhei¹,Uraki Shinsuke¹,Doi Asako¹,Furuta Machi³,Iwakura Hiroshi¹,Ariyasu Hiroyuki¹,Nishi Masahiro⁴,Akamizu Takashi¹

Affiliation:

1. First Department of Internal Medicine Wakayama Medical University Wakayama Japan

2. Oku Medical Clinic Wakayama Japan

3. Clinical Laboratory MedicineWakayama Medical University Wakayama Japan

4. Department of Clinical Nutrition and Metabolism Wakayama Medical University Wakayama Japan

Funder

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdi.13138

Reference19 articles.

1. Reconstitution of I KATP : An Inward Rectifier Subunit Plus the Sulfonylurea Receptor

2. Genetics and pathophysiology of neonatal diabetes mellitus

3. Clinical practice guidelines for congenital hyperinsulinism

4. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

5. Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion;Current Diabetes Reports;2024-07-09

2. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8;The Journal of Clinical Endocrinology & Metabolism;2023-05-22

3. Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes;Journal of Diabetes Investigation;2022-12-12

4. Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options;Journal of Personalized Medicine;2022-10-25

5. Congenital Hyperinsulinaemic Hypoglycaemia—A Review and Case Presentation;Journal of Clinical Medicine;2022-10-12