- A Case of Alstrom Syndrome
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Yoon KH, Son HY, Kang SK, Choi YH, Cha BY, Cho HS, Kim KB, Kang JH, Choo YM, Bae SS
- KMID: 2331127
- J Korean Soc Endocrinol.
- 1998 Sep;13(3):501-508.
The Alstrom syndrome is inherited autosomal recessive disorder, characterized by obesity, diabetes mellitus, pigmentary retinal degeneration, normal intelligence, sensorineural hearing loss, baldness, acanthosis nigricans, male hypogonadism, hyperuricemia and hypertriglyceridemia. There... -
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- Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
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Kim MK, Kwak SH, Kang S, Jung HS, Cho YM, Kim SY, Park KS
- KMID: 2174018
- Diabetes Metab J.
- 2015 Oct;39(5):439-443.
- doi: 10.4093/dmj.2015.39.5.439
BACKGROUND: Alstrom syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alstrom syndrome is caused by a mutation in the ALMS1 gene,... -
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- Primary Cilia as a Signaling Platform for Control of Energy Metabolism
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Song DK, Choi JH, Kim MS
- KMID: 2418703
- Diabetes Metab J.
- 2018 Apr;42(2):117-127.
- doi: 10.4093/dmj.2018.42.2.117
Obesity has become a common healthcare problem worldwide. Cilia are tiny hair-like organelles on the cell surface that are generated and anchored by the basal body. Non-motile primary cilia have... -
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