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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 16"
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Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM. Pomeroy J, et al. Pediatr Obes. 2021 Feb;16(2):e12703. doi: 10.1111/ijpo.12703. Epub 2020 Jul 22. Pediatr Obes. 2021. PMID: 32700463 Free PMC article.
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that severely inhibits primary cilia function. ...Relative to those with the BBS10 genotype, the BBS1 cohort had a lower BMI z-score in the 2-5 and 6-11 age groups, with similar BMI z- …
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that severely inhibits primary cilia function. ...Re …
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM. Olson AJ, et al. J Pediatr. 2019 Jan;204:31-37. doi: 10.1016/j.jpeds.2018.08.068. Epub 2018 Oct 4. J Pediatr. 2019. PMID: 30293640
OBJECTIVES: To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (BBS), a model ciliopathy for understanding the role of cilia in human health. ...Congenital heart disease, common in heterotaxy, was present …
OBJECTIVES: To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (B …
Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM. Pomeroy J, et al. Orphanet J Rare Dis. 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. Orphanet J Rare Dis. 2021. PMID: 34127036 Free PMC article.
BACKGROUND: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with …
BACKGROUND: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physi …
Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome.
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J. Haws R, et al. Diabetes Obes Metab. 2020 Nov;22(11):2133-2140. doi: 10.1111/dom.14133. Epub 2020 Jul 22. Diabetes Obes Metab. 2020. PMID: 32627316 Free PMC article.
AIM: To report an analysis of ~1 year of setmelanotide treatment for obesity and hunger, as well as metabolic and cardiac outcomes, in individuals with Bardet-Biedl syndrome (BBS). MATERIALS AND METHODS: Individuals aged 12 years and older with BBS received o …
AIM: To report an analysis of ~1 year of setmelanotide treatment for obesity and hunger, as well as metabolic and cardiac outcomes, in indiv …
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involved the liver (41.7%, n=25), central nervous system (26.7%, n=16), eyes (26.7%, n=16) and skeletal system (11.7%, n=7). Acciden …
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involv …
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Beales PL, et al. J Med Genet. 1997 Feb;34(2):92-8. doi: 10.1136/jmg.34.2.92. J Med Genet. 1997. PMID: 9039982 Free PMC article.
The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. ...Twenty eight percent of pedigrees did not show linkage to any kno …
The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, …
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, May-Simera H, Jenkins D, Knight M, Beales PL. Hernandez-Hernandez V, et al. Hum Mol Genet. 2013 Oct 1;22(19):3858-68. doi: 10.1093/hmg/ddt241. Epub 2013 May 27. Hum Mol Genet. 2013. PMID: 23716571 Free PMC article.
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and division. …
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome …
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J, Xie Y, Ye H, Chen C, Sun T, Xu K, Zhang X, Li Y. Zhong J, et al. Eye (Lond). 2023 Nov;37(16):3398-3405. doi: 10.1038/s41433-023-02516-w. Epub 2023 Apr 8. Eye (Lond). 2023. PMID: 37031301
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy. The aim of this study was to describe the clinical and genetic features of a cohort of Chinese patients carrying biallelic BBS gene variants. ...
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy. The aim of this study was to describe the clinic …
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
Gascue C, Tan PL, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu YP, Astrada S, Robello C, Naya H, Katsanis N, Badano JL. Gascue C, et al. J Cell Sci. 2012 Jan 15;125(Pt 2):362-75. doi: 10.1242/jcs.089375. Epub 2012 Feb 2. J Cell Sci. 2012. PMID: 22302990 Free PMC article.
Consequently, ciliary dysfunction results in a broad range of phenotypes: the ciliopathies. Bardet-Biedl syndrome (BBS), a model ciliopathy, is caused by mutations in 16 known genes. ...Here we show that the BBS7 protein (localized in the centrosomes, …
Consequently, ciliary dysfunction results in a broad range of phenotypes: the ciliopathies. Bardet-Biedl syndrome (BBS) …
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A. Grudzinska Pechhacker MK, et al. Ophthalmic Genet. 2024 Feb;45(1):95-102. doi: 10.1080/13816810.2023.2215332. Epub 2023 May 29. Ophthalmic Genet. 2024. PMID: 37246745
BACKGROUND: The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Loken syndrome. ...SCLT1-related …
BACKGROUND: The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such …
20 results