| 1. |
Huang L, Sun L, Wang Z, et al. Novel compound heterozygous BBS2 and homozygous MKKS variants detected in Chinese families with Bardet-Biedl syndrome[J/OL]. J Ophthalmol, 2021, 2021: 6751857[2021-01-06].https://pubmed.ncbi.nlm.nih.gov/33520300/. DOI: 10.1155/2021/6751857.
|
| 2. |
Khan SA, Ahmad Ansari MZ, Khalid M. Bardet Biedl syndrome: a rare genetic disorder[J]. J Pak Med Assoc, 2020, 70(9): 1651-1652. DOI: 10.5455/JPMA.48903.
|
| 3. |
Hirano M, Satake W, Moriyama N, et al. Bardet-Biedl syndrome and related disorders in Japan[J]. J Hum Genet, 2020, 65(10): 847-853. DOI: 10.1038/s10038-020-0778-y.
|
| 4. |
Meng X, Long Y, Ren J, et al. Ocular characteristics of patients with Bardet-Biedl syndrome caused by pathogenic BBS gene variation in a Chinese cohort[J/OL]. Front Cell Dev Biol, 2021, 9: 635216[2021-03-11].https://pubmed.ncbi.nlm.nih.gov/33777945/. DOI: 10.3389/fcell.2021.635216.
|
| 5. |
Tsang SH, Aycinena ARP, Sharma T. Ciliopathy: Bardet-Biedl syndrome[J]. Adv Exp Med Biol, 2018, 1085: 171-174. DOI: 10.1007/978-3-319-95046-4_33.
|
| 6. |
曾鵬, 沈濤. 巴德-畢氏綜合征第7亞型的研究進展[J]. 中華醫學遺傳學雜志, 2018, 35(2): 288-292. DOI: 10.3760/cma.j.issn.1003-9406.2018.02.033.Zeng P, Shen T. Progress of research on Bardet-Biedl syndrome[J]. Chin J Med Genet, 2018, 35(2): 288-292. DOI: 10.3760/cma.j.issn.1003-9406.2018.02.033.
|
| 7. |
Álvarez-Satta M, Castro-Sánchez S, Valverde D. Bardet-Biedl syndrome as a chaperonopathy: dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12)[J/OL]. Front Mol Biosci, 2017, 4: 55[2017-07-31]. https://pubmed.ncbi.nlm.nih.gov/28824921/. DOI: 10.3389/fmolb.2017.00055.
|
| 8. |
Priya S, Nampoothiri S, Sen P, et al. Bardet-biedl syndrome: Genetics, molecular pathophysiology, and disease management[J]. Indian J Ophthalmol, 2016, 64(9): 620-627. DOI: 10.4103/0301-4738.194328.
|
| 9. |
Berbari NF, Lewis JS, Bishop GA, et al. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia[J]. Proc Natl Acad Sci USA, 2008, 105(11): 4242-4246. DOI: 10.1073/pnas.0711027105.
|
| 10. |
Prasai A, Schmidt Cernohorska M, Ruppova K, et al. The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells[J]. J Biol Chem, 2020, 295(42): 14279-14290. DOI: 10.1074/jbc.RA120.013905.
|
