BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 35373910)

  • 1. Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
    Gupta N; D'Acierno M; Zona E; Capasso G; Zacchia M
    Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):9-19. PubMed ID: 35373910
    [TBL] [Abstract][Full Text] [Related]  

  • 2. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
    Seo S; Baye LM; Schulz NP; Beck JS; Zhang Q; Slusarski DC; Sheffield VC
    Proc Natl Acad Sci U S A; 2010 Jan; 107(4):1488-93. PubMed ID: 20080638
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    J Med Genet; 2010 Jul; 47(7):453-63. PubMed ID: 20472660
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
    Zhang Q; Yu D; Seo S; Stone EM; Sheffield VC
    J Biol Chem; 2012 Jun; 287(24):20625-35. PubMed ID: 22500027
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).
    Álvarez-Satta M; Castro-Sánchez S; Valverde D
    Front Mol Biosci; 2017; 4():55. PubMed ID: 28824921
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
    Castro-Sánchez S; Álvarez-Satta M; Cortón M; Guillén E; Ayuso C; Valverde D
    J Med Genet; 2015 Aug; 52(8):503-13. PubMed ID: 26082521
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
    Stoetzel C; Muller J; Laurier V; Davis EE; Zaghloul NA; Vicaire S; Jacquelin C; Plewniak F; Leitch CC; Sarda P; Hamel C; de Ravel TJ; Lewis RA; Friederich E; Thibault C; Danse JM; Verloes A; Bonneau D; Katsanis N; Poch O; Mandel JL; Dollfus H
    Am J Hum Genet; 2007 Jan; 80(1):1-11. PubMed ID: 17160889
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
    Esposito G; Testa F; Zacchia M; Crispo AA; Di Iorio V; Capolongo G; Rinaldi L; D'Antonio M; Fioretti T; Iadicicco P; Rossi S; Franzè A; Marciano E; Capasso G; Simonelli F; Salvatore F
    BMC Med Genet; 2017 Feb; 18(1):10. PubMed ID: 28143435
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
    Chandrasekar SP; Namboothiri S; Sen P; Sarangapani S
    Indian J Med Res; 2018 Feb; 147(2):177-182. PubMed ID: 29806606
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
    Kim JC; Ou YY; Badano JL; Esmail MA; Leitch CC; Fiedrich E; Beales PL; Archibald JM; Katsanis N; Rattner JB; Leroux MR
    J Cell Sci; 2005 Mar; 118(Pt 5):1007-20. PubMed ID: 15731008
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
    Hjortshøj TD; Grønskov K; Philp AR; Nishimura DY; Riise R; Sheffield VC; Rosenberg T; Brøndum-Nielsen K
    Hum Mutat; 2010 Apr; 31(4):429-36. PubMed ID: 20120035
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
    Hulleman JD; Nguyen A; Ramprasad VL; Murugan S; Gupta R; Mahindrakar A; Angara R; Sankurathri C; Mootha VV
    Mol Vis; 2016; 22():73-81. PubMed ID: 26900326
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    Jpn J Ophthalmol; 2018 Jul; 62(4):458-466. PubMed ID: 29666954
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Clin Genet; 2015 Apr; 87(4):343-9. PubMed ID: 24611735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
    Gao S; Zhang Q; Ding Y; Wang L; Li Z; Hu F; Yao RE; Yu T; Chang G; Wang X
    Orphanet J Rare Dis; 2024 Apr; 19(1):149. PubMed ID: 38584252
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
    Laurier V; Stoetzel C; Muller J; Thibault C; Corbani S; Jalkh N; Salem N; Chouery E; Poch O; Licaire S; Danse JM; Amati-Bonneau P; Bonneau D; Mégarbané A; Mandel JL; Dollfus H
    Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
    Hey CAB; Saltõkowa KB; Larsen LJ; Tümer Z; Brøndum-Nielsen K; Grønskov K; Hjortshøj TD; Møller LB
    Stem Cell Res; 2018 Dec; 33():46-50. PubMed ID: 30312873
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
    Badano JL; Kim JC; Hoskins BE; Lewis RA; Ansley SJ; Cutler DJ; Castellan C; Beales PL; Leroux MR; Katsanis N
    Hum Mol Genet; 2003 Jul; 12(14):1651-9. PubMed ID: 12837689
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    Clin Genet; 2014 Feb; 85(2):172-7. PubMed ID: 23432027
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype correlations in Bardet-Biedl syndrome.
    Daniels AB; Sandberg MA; Chen J; Weigel-DiFranco C; Fielding Hejtmancic J; Berson EL
    Arch Ophthalmol; 2012 Jul; 130(7):901-7. PubMed ID: 22410627
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.