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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 22"
Page 1
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
Tsyklauri O, Niederlova V, Forsythe E, Prasai A, Drobek A, Kasparek P, Sparks K, Trachtulec Z, Prochazka J, Sedlacek R, Beales P, Huranova M, Stepanek O. Tsyklauri O, et al. EMBO Rep. 2021 Feb 3;22(2):e50785. doi: 10.15252/embr.202050785. Epub 2021 Jan 11. EMBO Rep. 2021. PMID: 33426789 Free PMC article.
Bardet-Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. ...Some of the hematopoietic system alterations are associated with BBS-induced obesity. Moreover, we observe that the development and homeostasis …
Bardet-Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. ...Some of the …
Cystic kidney disease: a primer.
Cramer MT, Guay-Woodford LM. Cramer MT, et al. Adv Chronic Kidney Dis. 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. Adv Chronic Kidney Dis. 2015. PMID: 26088074 Review.
For example, solitary kidney cysts may be completely benign when they develop during adulthood but may represent early polycystic kidney disease when observed during childhood. In this review, we have categorized renal cystic disease according to inherited single-gene diso …
For example, solitary kidney cysts may be completely benign when they develop during adulthood but may represent early polycystic kidney dis …
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.
Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Elbedour K, et al. Am J Med Genet. 1994 Aug 15;52(2):164-9. doi: 10.1002/ajmg.1320520208. Am J Med Genet. 1994. PMID: 7802002 Review.
The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. ...We have performed echocardiographic studies on 22 patients with the Barde …
The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, menta …
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndro …
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, …
Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S. Parameswarappa DC, et al. Indian J Ophthalmol. 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. Indian J Ophthalmol. 2022. PMID: 35791150 Free PMC article.
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-Biedl (LMBB) syndrome patients. METHODS: This is a cross-sectional observational hospital-based study wherein 244 patients …
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-B …
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.
Horiuchi K, Kogiso T, Sagawa T, Ito T, Taniai M, Miura K, Hattori M, Morisada N, Hashimoto E, Tokushige K. Horiuchi K, et al. Intern Med. 2020;59(21):2719-2724. doi: 10.2169/internalmedicine.5045-20. Epub 2020 Nov 1. Intern Med. 2020. PMID: 33132306 Free PMC article.
We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed with Bard …
We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. In additi …
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
The mean observation time of this cohort was 3.53.1 years. RESULTS: Mutations in NPHP1 and NPHP3 were the most common genetic defects. ...The mean age of ESRD onset in the non-NPHP1 group was lower than that in the NPHP1 group (6.21.4 years, p<0.001), especially for pat …
The mean observation time of this cohort was 3.53.1 years. RESULTS: Mutations in NPHP1 and NPHP3 were the most common genetic defects …
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y. Kurata K, et al. Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17. Jpn J Ophthalmol. 2018. PMID: 29666954
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. ...The clinical characteristics of our patient were mild, as …
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal d …
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 …
18 results