| Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome. | Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.
Marchese E, Caterino M, Fedele R, Pirozzi F, Cevenini A, Gupta N, Ingrosso D, Perna A, Capasso G, Ruoppolo M, Zacchia M., Free PMC Article | 09/3/2022 |
| 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 |
| 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 |
| 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 |
| 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 |
| A consanguineous patient with Bardet Biedl syndrome was found to be homozygous for the variant of BBS10: NM_024685.3, c.39_46delGGCGTTGC, p.Ala14GlyfsTer79 (A14Gfs*79). Several other members of the pedigree had obesity or other features associated with this syndrome. | A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome.
Ladino LY, Galvis J, Yasnó D, Ramírez A, Beltrán OI. | 04/20/2019 |
| In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation | Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S., Free PMC Article | 09/29/2018 |
| Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A | 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. | 07/21/2018 |
| 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 |
| 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 |
| novel BBS10 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 |
| Novel mutation (c.1181_1182insGCATTTATACC) in BBS10 (p.S396Lfs*6) 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 |
| A rare variant (c.1189A>G [p.Ile397Val]; rs202042386) confers risk of type 2 diabetes in a recessive state. | A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E, Go-T2D Consortium, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ., Free PMC Article | 01/31/2015 |
| We report two affected brothers from a consanguineous Pakistani Punjabi family, both the brothers were homozygous for c.1958_1967del, which is a novel deletion in BBS10 that is likely to be causing the Bardet-Biedl syndrome in this family. | A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.
Agha Z, Iqbal Z, Azam M, Hoefsloot LH, van Bokhoven H, Qamar R. | 05/25/2013 |
| Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome. | Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W. | 03/23/2013 |
| This study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele in Bardet-Biedl syndrome. | BBS10 mutations are common in 'Meckel'-type cystic kidneys.
Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, Vekemans M, Bouvier R, Attie-Bitach T. | 03/5/2011 |
| 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 |
| Mutation in BBS10 modulates Bardet-Biedl syndrome in a sibling. | Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
Dulfer E, Hoefsloot LH, Timmer A, Mom C, van Essen AJ. | 11/27/2010 |
| Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families. | Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. | 10/23/2010 |
| the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis | Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H., Free PMC Article | 01/21/2010 |
| Detected in a family with high consanguinity and Bardet-Biedl syndrome. | [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL. | 01/21/2010 |