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1
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 Mar 2.
2
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.
Pediatr Nephrol. 2012 Jan;27(1):7-15. doi: 10.1007/s00467-010-1751-3. Epub 2011 Jan 19.
3
Bardet-Biedl syndrome: Is it only cilia dysfunction?
FEBS Lett. 2015 Nov 14;589(22):3479-91. doi: 10.1016/j.febslet.2015.07.031. Epub 2015 Jul 29.
4
Bardet-Biedl syndrome, the ciliopathy model and the importance of renal involvement.
Nefrologia. 2013;33(5):734-5. doi: 10.3265/Nefrologia.pre2013.Jun.11190.
6
Homozygous mutation in a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10.
7
Genetics of human Bardet-Biedl syndrome, an updates.
Clin Genet. 2016 Jul;90(1):3-15. doi: 10.1111/cge.12737. Epub 2016 Feb 9.
8
[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].
Med Clin (Barc). 2015 Aug 21;145(4):147-52. doi: 10.1016/j.medcli.2014.05.037. Epub 2014 Jul 30.
9
Establishing a connection between cilia and Bardet-Biedl Syndrome.
Trends Mol Med. 2004 Mar;10(3):106-9. doi: 10.1016/j.molmed.2004.01.003.
10
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
PLoS One. 2013;8(3):e59101. doi: 10.1371/journal.pone.0059101. Epub 2013 Mar 15.

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1
The Primary Cilia are Associated with the Axon Initial Segment in Neurons.
Adv Sci (Weinh). 2025 Mar;12(9):e2407405. doi: 10.1002/advs.202407405. Epub 2025 Jan 13.
2
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Genes (Basel). 2024 Apr 20;15(4):516. doi: 10.3390/genes15040516.
3
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in Gene.
Mol Syndromol. 2024 Mar;15(2):104-113. doi: 10.1159/000535253. Epub 2023 Dec 19.
4
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Orphanet J Rare Dis. 2024 Apr 8;19(1):149. doi: 10.1186/s13023-024-03150-9.
5
Illumination of understudied ciliary kinases.
Front Mol Biosci. 2024 Mar 8;11:1352781. doi: 10.3389/fmolb.2024.1352781. eCollection 2024.
7
Joint representation of molecular networks from multiple species improves gene classification.
PLoS Comput Biol. 2024 Jan 10;20(1):e1011773. doi: 10.1371/journal.pcbi.1011773. eCollection 2024 Jan.
8
Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies.
Nat Rev Nephrol. 2024 Feb;20(2):83-100. doi: 10.1038/s41581-023-00773-2. Epub 2023 Oct 23.
9
Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.
Front Pediatr. 2023 Jul 4;11:1226595. doi: 10.3389/fped.2023.1226595. eCollection 2023.
10
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A. 2023 Sep;191(9):2376-2391. doi: 10.1002/ajmg.a.63322. Epub 2023 Jun 9.

本文引用的文献

2
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.
4
Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling.
Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13127-32. doi: 10.1073/pnas.0804558105. Epub 2008 Aug 26.
5
Restoration of renal function in zebrafish models of ciliopathies.
Pediatr Nephrol. 2008 Nov;23(11):2095-9. doi: 10.1007/s00467-008-0898-7. Epub 2008 Jul 5.
6
Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.
Nat Genet. 2008 Aug;40(8):1010-5. doi: 10.1038/ng.179. Epub 2008 Jul 6.
7
Glucose regulates the effects of leptin on hypothalamic POMC neurons.
Proc Natl Acad Sci U S A. 2008 Jul 15;105(28):9811-6. doi: 10.1073/pnas.0800952105. Epub 2008 Jul 3.
8
Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways.
Dev Cell. 2008 Jun;14(6):954-61. doi: 10.1016/j.devcel.2008.03.010.
10
Beta-arrestin-mediated localization of smoothened to the primary cilium.
Science. 2008 Jun 27;320(5884):1777-81. doi: 10.1126/science.1157983. Epub 2008 May 22.

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