| Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Kantaputra P, Dejkhamron P, Sittiwangkul R, Katanyuwong K, Ngamphiw C, Sonsuwan N, Intachai W, Tongsima S, Beales PL, Buranaphatthana W., Free PMC Article | 02/11/2023 |
| Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. | Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW., Free PMC Article | 01/1/2022 |
| 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 |
| A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. | A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Hayat A, Khan AA, Rauf A, Khan SU, Hussain S, Ullah A, Ahmad W, Shams S, Khan B. | 04/18/2020 |
| Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W., Free PMC Article | 04/14/2018 |
| Sequence variants in BBS7 were identified in families with CRB2-related syndrome. | Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM., Free PMC Article | 06/24/2017 |
| BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary. | Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.
Shin SJ, Kim M, Chae H, Kwon A, Kim Y, Kim SJ, Yoon HE, Jekarl DW, Lee S., Free PMC Article | 11/19/2016 |
| 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 |
| small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E, Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E, Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E. | 05/17/2009 |
| This study describes a novel mutation in BBS7 causing Bardet-Biedl syndrome in a Chinese family. | A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
Yang Z, Yang Y, Zhao P, Chen K, Chen B, Lin Y, Guo F, Chen Y, Liu X, Lu F, Shi Y, Zhang D, Liao S, Xia Q., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
Chung WK, Patki A, Matsuoka N, Boyer BB, Liu N, Musani SK, Goropashnaya AV, Tan PL, Katsanis N, Johnson SB, Gregersen PK, Allison DB, Leibel RL, Tiwari HK., Free PMC Article | 01/11/2009 |
| A novel Bardet-Biedl syndrome protein is identified anad characterized. | Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N., Free PMC Article | 01/21/2010 |