Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene-Reference-Cited by-同舟云学术

Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene

Published:2013 Issue:1 Volume:60 Page:107-112
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Kawashima Yuki¹,Nishimura Rei¹,Utsunomiya Akari²,Kagawa Reiko²,Funata Hiroaki¹,Fujimoto Masanobu¹,Hanaki Keiichi¹,Kanzaki Susumu¹

Affiliation:

1. Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan

2. Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734-8551, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/60/1/60_EJ12-0289/_pdf

Reference12 articles.

1. 1. Kosztolanyi G (1997) Leprechaunism/Donohue syndrome/insulin receptor gene mutations: A syndrome delineation story from clinicopathological description to molecular understanding. Eur J Pediatr 156: 253-255.

2. 2. Whitehead JP, Soos MA, Jackson R, Tasic V, Kocova M, O’Rahilly S (1998) Multiple molecular mechanisms of insulin receptor dysfunction in a patient with donohue syndrome. Diabetes 47: 1362-1364.

3. Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene

4. 7. Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi S (2005) Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab 90: 4679-4687.

Cited by 26 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. Changes in Cells Associated with Insulin Resistance;International Journal of Molecular Sciences;2024-02-18

2. Insulin Resistance: The Increased Risk of Cancers;Current Oncology;2024-02-13

3. Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study;Case Reports in Pediatrics;2023-10-18

4. INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report;Medicine;2022-12-09

5. Components of IGF-axis in growth disorders: a systematic review and patent landscape report;Endocrine;2022-05-06