A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (<i>PRKAR1A</i>) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease-Reference-Cited by-同舟云学术

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A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease

Published:2016 Issue:17 Volume:55 Page:2433-2438
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Mineo Ryohei¹,Tamba Sachiko¹,Yamada Yuya¹,Okita Tomonori¹,Kawachi Yusuke¹,Mori Reiko¹,Kyo Mitsuaki¹,Saisho Kenji¹,Kuroda Yohei¹,Yamamoto Koji¹,Furuya Akiko²,Mukai Tokuo³,Maekawa Takashi⁴,Nakamura Yasuhiro⁴,Sasano Hironobu⁴,Matsuzawa Yuji¹

Affiliation:

1. Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan

2. Department of Pediatrics, Asahikawa Medical University, Japan

3. Department of Pediatrics, Asahikawa Kosei General Hospital, Japan

4. Department of Pathology, Tohoku University Graduate School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/55/17/55_55.6605/_pdf

Reference14 articles.

1. 1. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 64: 270-283, 1985.

2. 2. Carney JA, Young WF. Primary pigmented nodular adrenocortical disease and its associated conditions. Endocrinologist 2: 6-21, 1992.

3. 3. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86: 4041-4046, 2001.

4. 4. Louiset E, Duparc C, Young J, et al. Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia. N Engl J Med 369: 2115-2125, 2013.

5. 5. Doppman JL, Chrousos GP, Papanicolaou DA, Stratakis CA, Alexander HR, Nieman LK. Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism. Radiology 216: 797-802, 2000.

Cited by 6 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 clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review;Frontiers in Endocrinology;2024-06-26

2. Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review;Frontiers in Endocrinology;2022-09-23

3. A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex;Molecular Genetics & Genomic Medicine;2022-02-06

4. Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing’s syndrome: A case report and review of the literature;World Journal of Clinical Cases;2019-04-26

5. Primary Pigmented Nodular Adrenocortical Disease;Diagnostic Pathology: Endocrine;2018

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