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Page 1
Cilia and Obesity.
Vaisse C, Reiter JF, Berbari NF. Vaisse C, et al. Cold Spring Harb Perspect Biol. 2017 Jul 5;9(7):a028217. doi: 10.1101/cshperspect.a028217. Cold Spring Harb Perspect Biol. 2017. PMID: 28096262 Free PMC article. Review.
The ciliopathies Bardet-Biedl syndrome and Alstrom syndrome cause obesity. How ciliary dysfunction leads to obesity has remained mysterious, partly because of a lack of understanding of the physiological roles of primary cilia in the organs and pathway …
The ciliopathies Bardet-Biedl syndrome and Alstrom syndrome cause obesity. How ciliary dysfunction leads to obes …
Ciliary Genes in Renal Cystic Diseases.
Adamiok-Ostrowska A, Piekiełko-Witkowska A. Adamiok-Ostrowska A, et al. Cells. 2020 Apr 8;9(4):907. doi: 10.3390/cells9040907. Cells. 2020. PMID: 32276433 Free PMC article. Review.
Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney dis …
Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bar …
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
Priya S, Nampoothiri S, Sen P, Sripriya S. Priya S, et al. Indian J Ophthalmol. 2016 Sep;64(9):620-627. doi: 10.4103/0301-4738.194328. Indian J Ophthalmol. 2016. PMID: 27853007 Free PMC article. Review.
Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and secondary clinical manifestations, and shows …
Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one …
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M. Gupta N, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):9-19. doi: 10.1002/ajmg.c.31970. Epub 2022 Apr 4. Am J Med Genet C Semin Med Genet. 2022. PMID: 35373910 Free PMC article. Review.
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. ...It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membra …
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. ...It is well established that eight …
Inherited cerebrorenal syndromes.
Schurman SJ, Scheinman SJ. Schurman SJ, et al. Nat Rev Nephrol. 2009 Sep;5(9):529-38. doi: 10.1038/nrneph.2009.124. Nat Rev Nephrol. 2009. PMID: 19701229 Review.
Bardet-Biedl syndrome is a clinically variable condition associated with learning disabilities, progressive visual loss, obesity, polydactyly, hypogonadism, and cystic and fibrotic renal changes that can lead to renal failure. Most of the 12 genes mutated in …
Bardet-Biedl syndrome is a clinically variable condition associated with learning disabilities, progressive visual loss …
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been …
By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathw …
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV. Florea L, et al. Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353. Genes (Basel). 2021. PMID: 34573333 Free PMC article. Review.
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. ...This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet-Biedl …
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inhe …
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
A case series of Bardet-Biedl syndrome in a large Turkish family and review of the literature.
Bahceci M, Dolek D, Tutuncuoglu P, Gorgel A, Oruk G, Yenen I. Bahceci M, et al. Eat Weight Disord. 2012 Mar;17(1):e66-9. doi: 10.1007/BF03325331. Eat Weight Disord. 2012. PMID: 22751275 Review.
BACKGROUND AND AIM: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. We aimed to report a case series of Bardet-Biedl syndrome in a Turkish family and review the literature. ...
BACKGROUND AND AIM: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. We aimed to report a ca …
Educational paper: ciliopathies.
Bergmann C. Bergmann C. Eur J Pediatr. 2012 Sep;171(9):1285-300. doi: 10.1007/s00431-011-1553-z. Epub 2011 Sep 7. Eur J Pediatr. 2012. PMID: 21898032 Free PMC article. Review.
17 results