OBO ID: DOID:1935

Citations

(23 total)

Term: Bardet-Biedl syndrome

Epting, D., Decker, E., Ott, E., Eisenberger, T., Bader, I., Bachmann, N., Bergmann, C. (2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Human molecular genetics. 31(14):2295-2306

Song, P., Fogerty, J., Cianciolo, L.T., Stupay, R., Perkins, B.D. (2020) Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration. Frontiers in cell and developmental biology. 8:578528

Castro-Sánchez, S., Suarez-Bregua, P., Novas, R., Álvarez-Satta, M., Badano, J.L., Rotllant, J., Valverde, D. (2019) Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Scientific Reports. 9:12936

Novas, R., Cardenas-Rodriguez, M., Lepanto, P., Fabregat, M., Rodao, M., Fariello, M.I., Ramos, M., Davison, C., Casanova, G., Alfaya, L., Lecumberry, F., González-Sapienza, G., Irigoín, F., Badano, J.L. (2018) Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. Scientific Reports. 8:3019

Varga, M., Ralbovszki, D., Balogh, E., Hamar, R., Keszthelyi, M., Tory, K. (2018) Zebrafish Models of Rare Hereditary Pediatric Diseases. Diseases (Basel, Switzerland). 6(2)

Scott, C.A., Marsden, A.N., Rebagliati, M.R., Zhang, Q., Chamling, X., Searby, C.C., Baye, L.M., Sheffield, V.C., Slusarski, D.C. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genetics. 13:e1006936

Heon, E., Kim, G., Qin, S., Garrison, J.E., Tavares, E., Vincent, A., Nuangchamnong, N., Scott, C.A., Slusarski, D.C., Sheffield, V.C. (2016) Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Human molecular genetics. 25(11):2283-2294

Hostelley, T.L., Lodh, S., Zaghloul, N.A. (2016) Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes. BMC Genomics. 17:318

Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336

Link, B.A., Collery, R.F. (2015) Zebrafish Models of Retinal Disease. Annual review of vision science. 1:125-153

Al-Hamed, M.H., van Lennep, C., Hynes, A.M., Chrystal, P., Eley, L., Al-Fadhly, F., El Sayed, R., Simms, R.J., Meyer, B., Sayer, J.A. (2014) Functional modelling of a novel mutation in BBS5. Cilia. 3:3

Aldahmesh, M.A., Li, Y., Alhashem, A., Anazi, S., Alkuraya, H., Hashem, M., Awaji, A.A., Sogaty, S., Alkharashi, A., Alzahrani, S., Al Hazzaa, S.A., Xiong, Y., Kong, S., Sun, Z., and Alkuraya, F.S. (2014) IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Human molecular genetics. 23(12):3307-15

Chamling, X., Seo, S., Searby, C.C., Kim, G., Slusarski, D.C., Sheffield, V.C. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.. PLoS Genetics. 10(2):e1004083

Mei, X., Westfall, T.A., Zhang, Q., Sheffield, V.C., Bassuk, A.G., Slusarski, D.C. (2014) Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. Developmental Biology. 392(2):245-55

Wang, H., Chen, X., Dudinsky, L., Patenia, C., Chen, Y., Li, Y., Wei, Y., Abboud, E.B., Al-Rajhi, A.A., Lewis, R.A., Lupski, J.R., Mardon, G., Gibbs, R.A., Perkins, B.D., and Chen, R. (2011) Exome capture sequencing identifies a novel mutation in BBS4. Molecular Vision. 17:3529-3540

Zaghloul, N.A., Liu, Y., Gerdes, J.M., Gascue, C., Oh, E.C., Leitch, C.C., Bromberg, Y., Binkley, J., Leibel, R.L., Sidow, A., Badano, J.L., and Katsanis, N. (2010) Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America. 107(23):10602-10607

Amali, A.A., Lin, C.J., Chen, Y.H., Wang, W.L., Gong, H.Y., Rekha, R.D., Lu, J.K., Chen, T.T., and Wu, J.L. (2008) Overexpression of Myostatin2 in zebrafish reduces the expression of dystrophin associated protein complex (DAPC) which leads to muscle dystrophy. Journal of Biomedical Science. 15(5):595-604

Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L., and Katsanis, N. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40(4):443-448

Tayeh, M.K., Yen, H.J., Beck, J.S., Searby, C.C., Westfall, T.A., Griesbach, H., Sheffield, V.C., and Slusarski, D.C. (2008) Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Human molecular genetics. 17(13):1956-1967

Tobin, J.L., Di Franco, M., Eichers, E., May-Simera, H., Garcia, M., Yan, J., Quinlan, R., Justice, M.J., Hennekam, R.C., Briscoe, J., Tada, M., Mayor, R., Burns, A.J., Lupski, J.R., Hammond, P., and Beales, P.L. (2008) Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America. 105(18):6714-6719

Chiang, A.P., Beck, J.S., Yen, H.J., Tayeh, M.K., Scheetz, T.E., Swiderski, R.E., Nishimura, D.Y., Braun, T.A., Kim, K.Y., Huang, J.,. Elbedour, K., Carmi, R., Slusarski, D.C., Casavant, T.L., Stone, E.M., and Sheffield, V.C. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proceedings of the National Academy of Sciences of the United States of America. 103(16):6287-6292

Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Megarbane, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., and Dollfus, H. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38(5):521-524

Nishimura, D.Y., Searby, C.C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A.B., Lam, B.L., Powell, B.R., Swiderski, R.E., Bugge, K.E., Haider, N.B., Kwitek-Black, A.E., Ying, L., Duhl, D.M., Gorman, S.W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L.G., Jacobson, S.G., Stone, E.M., and Sheffield, V.C. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human molecular genetics. 10(8):865-874