ZFIN

ZFIN ID: ZDB-GENE-060126-1

ZFIN ID: ZDB-GENE-060126-1

CITATIONS (40 total)

Gene Name:	Bardet-Biedl syndrome 1
Gene Symbol:	bbs1

Noble, A.R., Masek, M., Hofmann, C., Cuoco, A., Rusterholz, T.D.S., Özkoc, H., Greter, N.R., Phelps, I.G., Vladimirov, N., Kollmorgen, S., Stoeckli, E., Bachmann-Gagescu, R. (2024) Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open. 13(11):

Masek, M., Etard, C., Hofmann, C., Hülsmeier, A.J., Zang, J., Takamiya, M., Gesemann, M., Neuhauss, S.C.F., Hornemann, T., Strähle, U., Bachmann-Gagescu, R. (2022) Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature communications. 13:1282

He, L., Zhang, Q., Jiang, D., Zhang, Y., Wei, Y., Yang, Y., Li, N., Wang, S., Yue, Y., Zhao, Q. (2021) Zebrafish foxc1a controls ventricular chamber maturation by directly regulating wwtr1 and nkx2.5 expression. Journal of genetics and genomics = Yi chuan xue bao. 49(6):559-568

Hostelley, T.L., Nesmith, J.E., Larkin, E., Jones, A., Boyes, D., Leitch, C.C., Fontaine, M., Zaghloul, N.A. (2021) Exocrine pancreas proteases regulate β-cell proliferation in zebrafish ciliopathy models and in murine systems. Biology Open. 10(6):

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

Hostelley, T.L., Nesmith, J.E., Zaghloul, N.A. (2017) Sample Preparation and Analysis of RNASeq-based Gene Expression Data from Zebrafish. Journal of visualized experiments : JoVE. (128)

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

Lodh, S., Hostelley, T.L., Leitch, C.C., O'Hare, E.A., Zaghloul, N.A. (2016) Differential effects on β-cell mass by disruption of Bardet-Biedl Syndrome or Alstrom Syndrome genes. Human molecular genetics. 25(1):57-68

Leitch, C.C., Lodh, S., Prieto-Echagüe, V., Badano, J.L., Zaghloul, N.A. (2014) Basal body proteins regulate Notch signaling via endosomal trafficking. Journal of Cell Science. 127(Pt 11):2407-19

Lindstrand, A., Davis, E.E., Carvalho, C.M., Pehlivan, D., Willer, J.R., Tsai, I.C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., Gibbs, R., Liu, P., Lewis, R.A., Banin, E., Lupski, J.R., Clark, R., Katsanis, N. (2014) Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome. American journal of human genetics. 94:745-54

Liu, Y.P., Tsai, I.C., Morleo, M., Oh, E.C., Leitch, C.C., Massa, F., Lee, B.H., Parker, D.S., Finley, D., Zaghloul, N.A., Franco, B., Katsanis, N. (2014) Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J. Clin. Invest.. 124(5):2059-70

Kim, Y.H., Epting, D., Slanchev, K., Engel, C., Walz, G., and Kramer-Zucker, A. (2013) A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish. PLoS One. 8(9):e72549

Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196

Putoux, A., Thomas, S., Coene, K.L.M., Davis, E.E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C.L., Elkhartoufi, N., Saint Frison, M.H., Rigonnot, L., Joye, N., Pruvost, S., Utine, G.E., Boduroglu, K., Nitschke, P., Fertitta, L., Thauvin-Robinet, C., Munnich, A., Cormier-Daire, V., Hennekam, R., Colin, E., Akarsu, N.A., Bole-Feysot, C., Cagnard, N., Schmitt, A., Goudin, N., Lyonnet, S., Encha-Razavi, F., Siffroi, J.P., Winey, M., Katsanis, N., Gonzales, M., Vekemans, M., Beales, P.L., and Attie-Bitach, T. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43:601-606

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

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

Loktev, A.V., Zhang, Q., Beck, J.S., Searby, C.C., Scheetz, T.E., Bazan, J.F., Slusarski, D.C., Sheffield, V.C., Jackson, P.K., and Nachury, M.V. (2008) A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation. Developmental Cell. 15(6):854-865

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

Gerdes, J.M., Liu, Y., Zaghloul, N.A., Leitch, C.C., Lawson, S.S., Kato, M., Beachy, P.A., Beales, P.L., Demartino, G.N., Fisher, S., Badano, J.L., and Katsanis, N. (2007) Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nature Genetics. 39(11):1350-1360

Badano, J.L., Leitch, C.C., Ansley, S.J., May-Simera, H., Lawson, S., Lewis, R.A., Beales, P.L., Dietz, H.C., Fisher, S., and Katsanis, N. (2006) Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 439(7074):326-30

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

Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466

Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903

Additional Citations (16):

ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.

ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.

ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.

ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.

Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.

ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.

Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.

Ensembl curators, GOA curators (2006) Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara. Manually curated data.

ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.

Thisse, B., Thisse, C. (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission.

ZFIN Staff (2004) ZGC Data Curation and Association in ZFIN by ZFIN Staff. Semi-automated Curation.

ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.

ZFIN Staff (2003) Curation of orthology data. Manually curated data.

ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.

ZFIN Staff (2002) Scientific Curation. Manually curated data.

ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.