期刊
JOURNAL OF CLINICAL INVESTIGATION
卷 119, 期 3, 页码 428-437出版社
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI37041
关键词
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资金
- National Institute of Child Health and Development [R01 HD04260]
- National Institute of Diabetes, Digestive, and Kidney Disorders [R01DK072301, R01DK07S972]
- Macular Vision Research Foundation
- Visual Neuroscience Training Program fellowship
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK072301, P30DK079637, R01DK075972] Funding Source: NIH RePORTER
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.
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