| A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome. | A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
Zhang Y, Xu M, Zhang M, Yang G, Li X., Free PMC Article | 02/12/2022 |
| Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. | Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
Jeziorny K, Antosik K, Jakiel P, Młynarski W, Borowiec M, Zmysłowska A., Free PMC Article | 07/24/2021 |
| Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction. | Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.
Ludlam WG, Aoba T, Cuéllar J, Bueno-Carrasco MT, Makaju A, Moody JD, Franklin S, Valpuesta JM, Willardson BM., Free PMC Article | 07/25/2020 |
| Study of two apparently unrelated consanguineous Bardet-Biedle syndrome families from Dera Ismail Khan (D.I.Khan) district, Pakistan identified a recently reported single base deletion NM_001033604.1:c.299delC in the fourth exon of BBS9 in both families and speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan. | Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C., Free PMC Article | 07/4/2020 |
| BBS9 functional knockdown affected the expression of primary cilia on patient suture cells and their osteogenic potential. | BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.
Barba M, Di Pietro L, Massimi L, Geloso MC, Frassanito P, Caldarelli M, Michetti F, Della Longa S, Romitti PA, Di Rocco C, Arcovito A, Parolini O, Tamburrini G, Bernardini C, Boyadjiev SA, Lattanzi W., Free PMC Article | 04/13/2019 |
| Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women | Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
Sung YJ, Pérusse L, Sarzynski MA, Fornage M, Sidney S, Sternfeld B, Rice T, Terry JG, Jacobs DR Jr, Katzmarzyk P, Curran JE, Jeffrey Carr J, Blangero J, Ghosh S, Després JP, Rankinen T, Rao DC, Bouchard C., Free PMC Article | 05/20/2017 |
| BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene. | Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
Khan MA, Mohan S, Zubair M, Windpassinger C., Free PMC Article | 05/14/2016 |
| BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller. | Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
Knockenhauer KE, Schwartz TU., Free PMC Article | 11/7/2015 |
| we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. | Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sathya Priya C, Sen P, Umashankar V, Gupta N, Kabra M, Kumaramanickavel G, Stoetzel C, Dollfus H, Sripriya S. | 09/26/2015 |
| The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration. | The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
Bagchi P, Walczak CP, Tsai B., Free PMC Article | 05/30/2015 |
| Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206. | A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA., Free PMC Article | 02/16/2013 |
| Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish. | Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
Veleri S, Bishop K, Dalle Nogare DE, English MA, Foskett TJ, Chitnis A, Sood R, Liu P, Swaroop A., Free PMC Article | 08/4/2012 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Detecting Genes and Gene-gene Interactions for Age-related Macular Degeneration with a Forest-based Approach.
Wang M, Zhang M, Chen X, Zhang H., Free PMC Article | 06/30/2010 |
| PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF | Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure.
Kang H, Lee SK, Kim MH, Song J, Bae SJ, Kim NK, Lee SH, Kwack K, Kang H, Lee SK, Kim MH, Song J, Bae SJ, Kim NK, Lee SH, Kwack K. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure.
Kang H, Lee SK, Kim MH, Song J, Bae SJ, Kim NK, Lee SH, Kwack K, Kang H, Lee SK, Kim MH, Song J, Bae SJ, Kim NK, Lee SH, Kwack K. | 04/3/2008 |
| gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues | The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.
Vernon EG, Malik K, Reynolds P, Powlesland R, Dallosso AR, Jackson S, Henthorn K, Green ED, Brown KW. | 01/21/2010 |
| Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. | Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC., Free PMC Article | 01/21/2010 |