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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.
This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review. Renal ciliopathies are characterized by the presence of kidney cysts that develo …
This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet- …
Setmelanotide: First Approval.
Markham A. Markham A. Drugs. 2021 Feb;81(3):397-403. doi: 10.1007/s40265-021-01470-9. Drugs. 2021. PMID: 33638809 Review.
Setmelanotide (IMCIVREE, Rhythm Pharmaceuticals) is a melanocortin-4 (MC4) receptor agonist developed for the treatment of obesity arising from proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The drug …
Setmelanotide (IMCIVREE, Rhythm Pharmaceuticals) is a melanocortin-4 (MC4) receptor agonist developed for the treatment of obesity arising f …
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 …
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." ...Such pleiotropic characteristics are typical of many disor …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Raina R, et al. Am J Kidney Dis. 2021 Jul;78(1):125-141. doi: 10.1053/j.ajkd.2020.10.021. Epub 2021 Jan 6. Am J Kidney Dis. 2021. PMID: 33418012 Review.
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicystic dysplastic kidney, nephronophthisis, cystic dysplasia, hepatocyte nuclear factor 1-beta (HNF1-beta) nephropathy, Bardet-B …
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicysti …
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 syndr …
Toward personalized medicine in Bardet-Biedl syndrome.
Kenny J, Forsythe E, Beales P, Bacchelli C. Kenny J, et al. Per Med. 2017 Sep;14(5):447-456. doi: 10.2217/pme-2017-0019. Epub 2017 Sep 4. Per Med. 2017. PMID: 29754569 Review.
Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet-Biedl syndrome. Advances in the understanding of …
Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare dis …
Diabetes mellitus in Bardet Biedl syndrome.
Pomeroy J, Offenwanger KM, Timmler T. Pomeroy J, et al. Curr Opin Endocrinol Diabetes Obes. 2023 Feb 1;30(1):27-31. doi: 10.1097/MED.0000000000000788. Epub 2022 Dec 8. Curr Opin Endocrinol Diabetes Obes. 2023. PMID: 36476576 Review.
PURPOSE OF REVIEW: Bardet Biedl syndrome (BBS) is a rare disease characterized by obesity and hyperphagia. ...People with BBS appear to have a high prevalence of insulin resistance and metabolic syndrome. Small cohort studies have identified high rates …
PURPOSE OF REVIEW: Bardet Biedl syndrome (BBS) is a rare disease characterized by obesity and hyperphagia. ...People wi …
Management of Monogenic and Syndromic Obesity.
Han JC, Rasmussen MC, Forte AR, Schrage SB, Zafar SK, Haqq AM. Han JC, et al. Gastroenterol Clin North Am. 2023 Dec;52(4):733-750. doi: 10.1016/j.gtc.2023.08.005. Epub 2023 Sep 27. Gastroenterol Clin North Am. 2023. PMID: 37919024 Review.
Additional therapies, including metreleptin and setmelanotide, that target defects within the leptin signaling pathway can effectively synergize with lifestyle efforts to treat monogenic disorders of leptin, leptin receptor, proopiomelanocortin (POMC), and proprotein convertase s …
Additional therapies, including metreleptin and setmelanotide, that target defects within the leptin signaling pathway can effectively syner …
Genetics of human Bardet-Biedl syndrome, an updates.
Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S. Khan SA, et al. Clin Genet. 2016 Jul;90(1):3-15. doi: 10.1111/cge.12737. Epub 2016 Feb 9. Clin Genet. 2016. PMID: 26762677 Review.
Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major d …
68 results