ZFIN

ZFIN ID: ZDB-GENE-060126-2

ZFIN ID: ZDB-GENE-060126-2

CITATIONS (44 total)

Gene Name:	Bardet-Biedl syndrome 4
Gene Symbol:	bbs4

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

Tsai, I.C., Adams, K.A., Tzeng, J.A., Shennib, O., Tan, P.L., Katsanis, N. (2019) Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. JCI insight. 4(22):

Sun, C., Galicia, C., Stenkamp, D.L. (2018) Transcripts within rod photoreceptors of the Zebrafish retina. BMC Genomics. 19:127

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

Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

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

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

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

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

Lopes, C.A., Prosser, S.L., Romio, L., Hirst, R.A., O'Callaghan, C., Woolf, A.S., and Fry, A.M. (2011) Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. Journal of Cell Science. 124(Pt 4):600-612

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

Zhao, C., and Malicki, J. (2011) Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. The EMBO journal. 30(13):2532-2544

Hudak, L.M., Lunt, S., Chang, C.H., Winkler, E., Flammer, H., Lindsey, M., and Perkins, B. (2010) The Intraflagellar Transport Protein Ift80 is essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy. Investigative ophthalmology & visual science. 51(7):3792-3799

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

Li, C., Inglis, P.N., Leitch, C.C., Efimenko, E., Zaghloul, N.A., Mok, C.A., Davis, E.E., Bialas, N.J., Healey, M.P., Héon, E., Zhen, M., Swoboda, P., Katsanis, N., and Leroux, M.R. (2008) An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes. PLoS Genetics. 4(3):e1000044

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

Tobin, J.L., and Beales, P.L. (2008) Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany). 23(11):2095-2099

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

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

Tsujikawa, M., Omori, Y., Biyanwila, J., and Malicki, J. (2007) Mechanism of positioning the cell nucleus in vertebrate photoreceptors. Proceedings of the National Academy of Sciences of the United States of America. 104(37):14819-14824

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

Blacque, O.E., and Leroux, M.R. (2006) Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cellular and molecular life sciences : CMLS. 63(18):2145-2161

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

Yen, H.J., Tayeh, M.K., Mullins, R.F., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (2006) Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Human molecular genetics. 15(5):667-677

Ross, A.J., May-Simera, H., Eichers, E.R., Kai, M., Hill, J., Jagger, D.J., Leitch, C.C., Chapple, J.P., Munro, P.M., Fisher, S., Tan, P.L., Phillips, H.M., Leroux, M.R., Henderson, D.J., Murdoch, J.N., Copp, A.J., Eliot, M.M., Lupski, J.R., Kemp, D.T., Dollfus, H., Tada, M., Katsanis, N., Forge, A., and Beales, P.L. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature Genetics. 37(10):1135-1140

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 (14):

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.

UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.

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

ZFIN Staff (2006) Curation of Ensembl Database Links. Automated 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) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.

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