| De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. | De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Freke GM, Martins T, Davies RJ, Beyer T, Seda M, Peskett E, Haq N, Prasai A, Otto G, Jeyabalan Srikaran J, Hernandez V, Diwan GD, Russell RB, Ueffing M, Huranova M, Boldt K, Beales PL, Jenkins D., Free PMC Article | 11/27/2023 |
| Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island. | Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Alghaith FA, MacKay S, Wallace K, Locke J, Robitaille JM, Dyack S, Arts HH. | 11/13/2023 |
| Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. | Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA., Free PMC Article | 12/24/2022 |
| BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. | BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. | 04/30/2022 |
| Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. | Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E., Free PMC Article | 01/8/2022 |
| A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J., Free PMC Article | 11/27/2021 |
| The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly. | The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly.
Cassioli C, Onnis A, Finetti F, Capitani N, Brunetti J, Compeer EB, Niederlova V, Stepanek O, Dustin ML, Baldari CT., Free PMC Article | 10/30/2021 |
| Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. | Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
Wang L, Liu Y, Stratigopoulos G, Panigrahi S, Sui L, Zhang Y, Leduc CA, Glover HJ, De Rosa MC, Burnett LC, Williams DJ, Shang L, Goland R, Tsang SH, Wardlaw S, Egli D, Zheng D, Doege CA, Leibel RL., Free PMC Article | 10/2/2021 |
| BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
Hey CAB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB., Free PMC Article | 04/17/2021 |
| The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. | The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.
Prasai A, Schmidt Cernohorska M, Ruppova K, Niederlova V, Andelova M, Draber P, Stepanek O, Huranova M., Free PMC Article | 02/27/2021 |
| Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. | Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.
Katagiri S, Hosono K, Hayashi T, Murai N, Wake E, Miyata I, Mizobuchi K, Kurata K, Matsuura T, Nakano T, Hotta Y. | 10/3/2020 |
| Retrotransposon insertion in exon 13 was identified in a female with Bardet-Biedl syndrome carrying the most common BBS1 mutation (BBS1: Met390Arg). | Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.
Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E., Free PMC Article | 04/13/2019 |
| Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). | Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. | 07/8/2017 |
| M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients. | Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
Starks RD, Beyer AM, Guo DF, Boland L, Zhang Q, Sheffield VC, Rahmouni K., Free PMC Article | 06/11/2016 |
| BBS1 emerged as a novel predictor of overall survival in MPM. | Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma.
Vavougios GD, Solenov EI, Hatzoglou C, Baturina GS, Katkova LE, Molyvdas PA, Gourgoulianis KI, Zarogiannis SG. | 01/16/2016 |
| Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. | Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL., Free PMC Article | 12/19/2015 |
| We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4. | Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.
DeLuca AP, Weed MC, Haas CM, Halder JA, Stone EM. | 11/14/2015 |
| A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome. | Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G., Free PMC Article | 10/3/2015 |
| novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain | Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
Álvarez-Satta M, Castro-Sánchez S, Pereiro I, Piñeiro-Gallego T, Baiget M, Ayuso C, Valverde D. | 07/25/2015 |
| Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. | Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J., Free PMC Article | 06/6/2015 |
| mediates endosomal recycling, sorting and signal transduction of Notch receptors | Basal body proteins regulate Notch signaling through endosomal trafficking.
Leitch CC, Lodh S, Prieto-Echagüe V, Badano JL, Zaghloul NA., Free PMC Article | 05/16/2015 |
| Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome. | Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H. | 04/4/2015 |
| loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. | Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N., Free PMC Article | 06/21/2014 |
| Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. | Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, Ayub H, Abbasi NM, Riaz M, Micheal S, Gilissen C, Ali SH, Azam M, Collin RW, Cremers FP, Qamar R., Free PMC Article | 09/28/2013 |
| Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation in Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. | Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A. | 06/1/2013 |