Zhao, Y. and Rahmouni, K. (Dec 2021). BBSome: a New Player in Hypertension and Other Cardiovascular Risks. ‘’Hypertension”. 79 (2):303-313 doi.org/10.1161/HYPERTENSIONAHA.121.17946 [7]
Guo, D., Reho, J.J., Morgan, D.A., and Rahmouni, K. (Apr 2020). Cardiovascular Regulation by the Neuronal BBSome. ‘’Hypertension’’. 75 (4):1082-1090 doi: 10.1161/HYPERTENSIONAHA.119.14373. [26]
Reho, J.J., Guo, D.F., Morgan, D.A,. and Rahmouni, K. (Aug 2019) Smooth muscle cell-specific disruption of the BBsome causes vascular dysfunction. ‘’Hypertension’’. 74:817–825 doi: 10.1161/HYPERTENSIONAHA.119.13382 [45]
Esler, M., Straznicky, N., Eikelis, N., Masuo, K., Lambert, G., and Lambert, E. (Sep 2006). Mechanisms of sympathetic activation in obesity-related hypertension. ‘’Hypertension’’. 48:787–796 doi: 10.1161/01.HYP.0000242642.42177.49 [46]
biomedcentral.com
biosignaling.biomedcentral.com
Carballo, G.B., Honorato, J.R., Farias de Lopes, G.P., and Liete de Sampaio e Sophr, T.C. (March 2018). A Highlight on Sonic Hedgehog Pathway. “Cell Communication and Signaling. 16 (11). doi.org/10.1186/s12964-018-0220-7. [29]
cell.com
Nachury, M.V., Loktev, A.V., Zhang, Q., Bazan, J.F., Sheffield, V.C., and Jackson, P.K.(June 2007). A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis. Cell”. 129 (6):1201-1213. doi.org/10.1016/j.cell.2007.03.053 [23]
Cleveland Clinic. (2023). Leptin and Leptin Resistance. “Cleveland Clinic. [33]
diabetesjournals.org
Benzinou, M., Walley, A., Lobbens, S., Charles, M.A., Jouret, B., Fumeron, F., Balkau, B., Meyre, D., and Froguel, P. (Oct 2006). Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. ‘’Diabetes’’. 55 (10):2876–2882 doi: 10.2337/db06-0337 [27]
The Human Gene Database. (Mar 2023). ARL6 Gene. “Gene Cards. [9]
jci.org
Wang, L., Liu, Y., Stratigopoulos, G., Panigrahi, S., Sui, L., Zhang, Y., Leduc, C.A., Glover, H.J., de Rosa, M.C., Burnett, L.C., Williams, D.J., et al. (Feb 2021) Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. ‘’Journal of Clinical Investigations’’. 131(8) doi.org/10.1172/JCI146287. [34]
karger.com
Mokrzan, E.M., Lewis, J.S., and Mykytyn, K. (2007) Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome. ‘’Nephron Experimental Nephrology.’’ 106:e88–e96. doi: 10.1159/000103021 [40]
lww.com
journals.lww.com
Imhoff, O., Marion, V., Stoetzel, C., Durand, M., Holder, M., Sigaudy, S., Sarda, P., Hamel, C.P., Brandt, C., Dollfus, H., and Moulin, B. (Jan 2011). Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. ‘’Clinical Journal of the American Society of Nephrology’’. 6(1):22–29. doi: 10.2215/CJN.03320410 [36]
Forsythe, E., Sparks, K., Best, S., Borrows, S., Hoskins, B., Sabir, A., Barrett, T., Williams, D., Mohammed, S., Goldsmith, D., Milford, D.V., Bockenhaur, D., Foggensteiner, L., and Beales, P.L. (Mar 2017) Risk factors for severe renal disease in Bardet-Biedl syndrome. ‘’Journal of the American Society of Nephrology’’. 28 (3):963–970. doi: 10.1681/ASN.2015091029 [37]
nih.gov
ncbi.nlm.nih.gov
Klink, B.U., Gatsogiannis, C., Hofnagel, O., Wittinghofer, A., and Raunser, S.(Jan 2020). Structure of the human BBSome core complex. Electron Microscopy Data Bank. doi: 10.7554/eLife.53910 [1]
Klink, B.U., Zent, E., Juneja, P., Kuhlee, A., Rausner, S., and Wittinghofer, A. (Nov 2017). A recombinant BBSome core complex and how it interacts with ciliary cargo. eLife”. doi: 10.7554/eLife.27434 [2]
Satir, P. (Mar 2017). CILIA: before and after. ‘’Cilia’’. 6:1–11. doi: 10.1186/s13630-017-0046-8. [5]
Jin, H., White, S.R., Shida, T., Schulz, S., Aguiar, M., Gygi, S.P., Bazan, J.F., and Nachury, M.V. (Jun 2011). The conserved bardet-biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. ‘’Cell’’. 141 (7):1208–1219. doi: 10.1016/j.cell.2010.05.015. [10]
Wingfield, J.L., Lechtreck, K.F., and Lorentzen, E. (Sep 2019). Trafficking of ciliary membrane proteins by the intraflagellar transport/BBSome machinery. ‘’Essays in Biochemistry’’. 62 (6):753–763. doi: 10.1042/EBC20180030. [11]
Gascue, C., Tan, P.L., Cardenas-Rodriguez, M., Libisch, G., Fernandez-Calero, T., Liu, Y.P., Astrada, S., Robello, C., Naya, H., Katsanis, N., and Badano, J.L. (Jan 2012) Direct role of bardet-biedl syndrome proteins in transcriptional regulation. Journal of Cell Science. 125(2):362–375 doi: 10.1242/jcs.089375 [13]
Mourão, A., Nager, A.R., Nachury, M.V., and Lorentzen, E. (Jun 2015). Structural basis for membrane targeting of the BBSome by ARL6. ‘’Nature Structural & Molecular Biology’’. 21 (2):1035–1041. doi: 10.1038/nsmb.2920. [14]
Ullah, A., Umair, M., Yousaf, M., Khan, S.A., Nazim-Ud-Din, M., Shah, K., Ahmad, F., Azeem, Z., Ali, G., Alhaddad, B., Rafique, A., Jan, A., Haack, T.B., Strom, T.M., Meitinger, T., Ghous, T., and Ahmad, W. (Jul 2017). Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ‘’Molecular Vision’’. 23:482–494. [16]
van Huet, R.A., Pierrache, L.H., Meester-Smoor, M.A., Klaver, C.C., van den Born, L.I., Hoyng, C.B., de Wijs, I.J., Collin, R.W., Hoefsloot, L.H., and Klevering, B.J. (Apr 2015) The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. ‘’Molecular Vision’’. 21:461–476. [17]
Yang, S., Bahl, K., Chou, H., Woodsmith, J., Stelzl, U., Walz, T., and Nachury, M.V. (June 2020). Near-atomic structures of the BBSome reveal the basis for BBSome activation and binding to GPCR cargoes. eLife”. doi: 10.7554/eLife.55954 [19]
Rehi, J.J., Guo, D., Morgan, D.A., and Rahmouni, K. (Oct 2019). Smooth Muscle Cell-Specific Disruption of the BBSome Causes Vascular Dysfunction. ‘'Hypertension". 74 (4):817-825 doi: 10.1161/HYPERTENSIONAHA.119.13382 [20]
Chou, H.T., Apelt, L., Farrell, D.P., White, S.R., Woodsmith, J., Svetlov, V., Goldstein, J.S., Nager, A.R., Li, Z., Muller, J., Dollfus, H., Nudler, E., Stelzl, U., DiMaio, F., Nachury, M.V., and Walz, T. (Jul 2019). The molecular architecture of native BBSome obtained by an integrated structural approach. ‘’Structure’’. 27 (9):1384–1394. doi: 10.1016/j.str.2019.06.006. [21]
Berbari, N.F., Johnson, A.D., Lewis, J.S., Askwith, C.C., and Mykytyn, K. (Apr 2008). Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors. ‘’Molecular Biology of the Cell’’. 19 (4):1540–1547. doi: 10.1091/mbc.E07-09-0942. [22]
Guo, D., Beyer, A.M., Yang, B., Nishimura, D.Y., Sheffield, V.C., and Rahmouni, K. (Feb 2011). Inactivation of Bardet-Biedl syndrome genes causes kidney defects. ‘’American Journal of Physiology. Renal Physiology’’. 300 (2):F574–F580 doi: 10.1152/ajprenal.00150.2010 [24]
Beyer, A.M., Guo, D., Sheffield, V.C., and Rahmouni, K. (Dec 2010). Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. ‘’American Journal of Physiology. Heart and Circulatory Physiology’’. 299 (6):H1902–H1907 doi: 10.1152/ajpheart.00336.2010 [25]
Lim, E.T., Liu, Y.P., Chan, Y., Tiinamaija, T., Käräjämäki, A., Madsen, E., Altshuler, D.M., Raychaudhuri, S., Groop, L., Flannick, J., Hirschhorn, J.N., Katsanis, N., Daly, M.J. (Nov 2014). A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. ‘’American Journal of Human Genetics’’. 95(5):509–520 doi: 10.1016/j.ajhg.2014.09.015 [28]
Guo, D., Cui, H., Zhang, Q., Morgan, D.A., Thedens, D.R., Nishimura, D., Grobe, J.L., Sheffield, V.C., and Rahmouni, K. (Feb 2016). The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane. ‘’PLOS Genetics’’. 12 (2) doi: 10.1371/journal.pgen.1005890 [32]
Lucker, B.F., Miller, M.S., Dziedzic, S.A., Blackmarr, P.T., and Cole, D.G. (Jul 2010). Direct Interactions of Intraflagellar Transport Complex B Proteins IFT88, IFT52, and IFT46. ‘’Journal of Biological Chemistry’’. 285 (28):21508-21518 doi: 10.1074/jbc.M110.106997 [48]
Tayeh, M.K., Yen, H., Beck, J.S., Searby, C.C., Westfall, H.G., Sheffield, V.C., and Slusarski, D.C. (Jul 2008) Genetic interaction between Bardet–Biedl syndrome genes and implications for limb patterning. ‘’Human Molecular Genetics’’. 17 (13):1956–1967 doi: 10.1093/hmg/ddn093 [50]
Raposo, G. and Marks, M.S. (Oct 2007). Melanosomes-dark organelles enlighten endosomal membrane transport. Nature Reviews Molecular Cell Biology”. doi: 10.1038/nrm2258 [51]
Jin, H. and Nachury, M.V. (June 2009). The BBSome. “Current Biology. 19 (12):472-473. doi.org/10.1016/j.cub.2009.04.015. [4]
Wei, Q., Zhang, Y., Li, Y., Zhange, Q., Ling, K, and Hu, J. (Aug 2012). The BBSome controls IFT assembly and turnaround in cilia. Natural Cell Biology”. 14:950-957 doi-org./10.1038/ncb2560 [12]
Zhang, Q., Yu, D., Seo, S., Stone, E.M., and Sheffield, V.C. (Jun 2012). Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. ‘’Journal of Biological Chemistry’’. 287 (24):20625–20635. doi: 10.1074/jbc.M112.341487 [15]
Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Luleci, G., Chandrasekharappa, S.C., Collins, F.S., Jacobson, S.G., Heckenlively, J.R., Weleber, R.G., Stone, E.M., and Sheffield, V.C. (Aug 2002) Identification of the gene (bbs1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. ‘’Nature Genetics’’. 31 (4):435–438. doi: 10.1038/ng935 [31]
Reho, J.J. and Rahmouni, K. (Jun 2017). Oxidative and inflammatory signals in obesity-associated vascular abnormalities. ‘’Clinical Science (London)’’ 131 (14):1689-1700 doi: 10.1042/CS20170219 [43]
Rahmouni, K., Fath, M.A., Seo, S., Thedens, D.R., Berry, C.J., Weiss, R., Nishimura, D.Y., and Sheffield, V.C. (Apr 2008) Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. ‘’Journal of Clinical Investigation’’. 118 (4):1458–1467. doi: 10.1172/JCI32357 [44]
Riise, R. (1996) The cause of death in Laurence-Moon-Bardet-Biedl syndrome. ‘’Acta Ophthalmologica Scandinavica, Supplement’’. 219:45–47 DOI: 10.1111/j.1600-0420.1996.tb00385.x [47]
oup.com
academic.oup.com
Yen, H. J., Tayeh, M.K, Mullins, R.F., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (Mar 2006) Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. “Human Molecular Genetics’’. 15 (5):667–677 doi.org/10.1093/hmg/ddi468 [49]
pnas.org
Zhang, Q., Nishimura, D., Seo, S., Vogel, T., Morgan, D.A., Searby, C., Bugge, K., Stone, E.M., Rahmouni, K., and Sheffield, V.C. (Aug 2011). Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. ‘’Proceedings of the National Academy of Sciences (USA)’’. 108 (51):20678–20683 doi: 10.1073/pnas.1113220108 [38]
Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M., and Sheffield, V.C. (Jun 2004) Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. ‘’Proceedings of the National Academy of Sciences of USA’’. 101(23):8664–8669. doi: 10.1073/pnas.0402354101 [39]
proquest.com
Scheidecker, S., Etard, C., Pierce, N.W., Geoffroy, V., Schaefer, E., et al. (Feb 2014). Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). Journal of Medical Genetics. DOI:10.1136/jmedgenet-2013-101785 [6]
radiopaedia.org
Weerakkody, Y. (Jan 2023). Postaxial polydactyly. “Radiopedia. doi.org/10.53347/rID-15588. [8]
sciencedirect.com
Webb, M.P., Dicks, E.L., Green, J.S., Moore, S.J., Warden, G.M., Gamberg, J.S., Davidson, W.S., Young, T.L., and Parfrey, P.S. (Jul 2009) Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders. ‘’ Kidney International’’. 76 (2):215–223. doi: 10.1038/ki.2009.116 [41]
wiley.com
onlinelibrary.wiley.com
Moore, S.J., Green, J.S., Fan, Y., Bhogal, A.K., Dicks, E., Fernandez, B.A., Steganelli, M., Murphy, C., Cramer, B.C., Dean, J.C., et al. (Jan 2005). Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population based, cohort study. ‘’American Journal of Medical Genetics’’. 132 (4):352-360 doi.org/10.1002/ajmg.a.30406 [35]
Croft, J.B. and Swift, M. (May 1990) Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. ‘’American Journal of Medical Genetics’’. 36(1):37–42. doi: 10.1002/ajmg.1320360109 [42]
