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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins r …
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, …
Genetic Determinants of Childhood Obesity.
Littleton SH, Berkowitz RI, Grant SFA. Littleton SH, et al. Mol Diagn Ther. 2020 Dec;24(6):653-663. doi: 10.1007/s40291-020-00496-1. Epub 2020 Oct 1. Mol Diagn Ther. 2020. PMID: 33006084 Free PMC article. Review.
Obesity contributes substantially to mortality in the United States by increasing the risk for type 2 diabetes, cardiovascular-related diseases, and other comorbidities. ...Childhood obesity cases can be categorized in one of two ways: syndromic or non-syndromic. Syndromic …
Obesity contributes substantially to mortality in the United States by increasing the risk for type 2 diabetes, cardiovascular-relate …
Genetics of Obesity in Humans: A Clinical Review.
Mahmoud R, Kimonis V, Butler MG. Mahmoud R, et al. Int J Mol Sci. 2022 Sep 20;23(19):11005. doi: 10.3390/ijms231911005. Int J Mol Sci. 2022. PMID: 36232301 Free PMC article. Review.
The genetics of obesity could be classified into syndromic and non-syndromic obesity. Prader-Willi, fragile X, Bardet-Biedl, Cohen, and Albright Hereditary Osteodystrophy (AHO) syndromes are examples of syndromic obesity, which are associated with developmental dela …
The genetics of obesity could be classified into syndromic and non-syndromic obesity. Prader-Willi, fragile X, Bardet-Biedl, C …
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:171-174. doi: 10.1007/978-3-319-95046-4_33. Adv Exp Med Biol. 2018. PMID: 30578506 Review.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome …
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. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. It is well established that eight BBS proteins, namely BBS1, …
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogen …
BBSome: a New Player in Hypertension and Other Cardiovascular Risks.
Zhao Y, Rahmouni K. Zhao Y, et al. Hypertension. 2022 Feb;79(2):303-313. doi: 10.1161/HYPERTENSIONAHA.121.17946. Epub 2021 Dec 6. Hypertension. 2022. PMID: 34865504 Free PMC article. Review.
The BBSome is an octameric protein complex involved in Bardet-Biedl syndrome (BBS), a human pleiotropic, autosomal recessive condition. ...
The BBSome is an octameric protein complex involved in Bardet-Biedl syndrome (BBS), a human pleiotropic, autosomal rece …
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: A focus on genetics, mechanisms and metabolic dysfunction.
Tomlinson JW. Tomlinson JW. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:13-24. doi: 10.1111/dom.15480. Epub 2024 Feb 1. Diabetes Obes Metab. 2024. PMID: 38302651 Review.
Bardet-Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic dysfunction, including obesity and an increased risk of type 2 diab …
Bardet-Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnorm …
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 and Usher syndrome.
Koenig R. Koenig R. Dev Ophthalmol. 2003;37:126-40. doi: 10.1159/000072043. Dev Ophthalmol. 2003. PMID: 12876834 Review.
Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. ...Each of the three clinical types is genetically heterogeneous: …
Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigment …
59 results