Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review-Reference-Cited by-同舟云学术

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review

Published:2021 Issue:1 Volume:68 Page:111-117
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Masunaga Yohei¹,Fujisawa Yasuko¹,Muramatsu Mayumi¹,Ono Hiroyuki¹,Inoue Takanobu²,Fukami Maki²,Kagami Masayo²,Saitsu Hirotomo³,Ogata Tsutomu¹

Affiliation:

1. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

2. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

3. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/68/1/68_EJ20-0291/_pdf

Reference24 articles.

1. 1 Innes AM, Dyment DA (2014) SHORT Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, et al. (ed) GeneReviews. University of Washington, Seattle, WA: https://www.ncbi.nlm.nih.gov/books/NBK1116/.

2. 2 Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, et al. (2016) Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clin Genet 89: 501–506.

3. 3 Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, et al. (2013) PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet 93: 141–149.

4. 4 Chudasama KK, Winnay J, Johansson S, Claudi T, König R, et al. (2013) SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet 93: 150–157.

5. 5 Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, et al. (2013) Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet 93: 158–166.

Cited by 8 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. Comorbidity Genes of Alzheimer’s Disease and Type 2 Diabetes Associated with Memory and Cognitive Function;International Journal of Molecular Sciences;2024-02-12

2. Dynamic molecular architecture and substrate recruitment of cullin3–RING E3 ligase CRL3KBTBD2;Nature Structural & Molecular Biology;2024-02

3. SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum;Current Diabetes Reports;2022-11-19

4. Lignan matairesinol illustrates anti-diabetic effect via inhibition of DPP-4 and hepato-protective effect via inhibition of apoptosis in diabetic rats;Acta Poloniae Pharmaceutica - Drug Research;2022-08-24

5. SHORT syndrome in an adult Brazilian patient;American Journal of Medical Genetics Part A;2022-01-25