The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Bardet–Biedl syndrome: beyond the cilium
Open accessAbstract
The Bardet-Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive impairment, genito-urinary tract malformations and limb deformities, is beginning to reveal insights into several aspects of mammalian development and organogenesis. Involvement of BBS proteins in disparate pathways such as the non-canonical Wnt and Sonic Hedgehog pathways is highlighting their interplay in disease pathogenesis. Here we review the recent developments in this emerging field, with the emphasis on the renal component of the syndrome and potential future directions.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
Nauli, S. M., Alenghat, F. J., Luo, Y., Williams, E., Vassilev, P., Li, X., Elia, A. E. H., Lu, W., Brown, E. M., Quinn, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1076 · Cited by 2,057
Haycraft, C. J., Banizs, B., Aydin-Son, Y., Zhang, Q., Michaud, E. J., & Yoder, B. K. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010053 · Cited by 902
Cilia and Hedgehog responsiveness in the mouse
Huangfu, D., & Anderson, K. V. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505328102 · Cited by 820
Simons, M., Gloy, J., Ganner, A., Bullerkotte, A., Bashkurov, M., Krönig, C., Schermer, B., Benzing, T., Cabello, O. A., Jenny, A., et al. (2005) · Nature Genetics · doi:10.1038/ng1552 · Cited by 767
Park, T. J., Haigo, S. L., & Wallingford, J. B. (2006) · Nature Genetics · doi:10.1038/ng1753 · Cited by 389
Localization of 5-HT6 receptors at the plasma membrane of neuronal cilia in the rat brain
Brailov, I., Bancila, M., Brisorgueil, M.-J., Miquel, M.-C., Hamon, M., & Vergé, D. (2000) · Brain Research · doi:10.1016/s0006-8993(00)02519-1 · Cited by 245
PKD2 Functions as an Epidermal Growth Factor-Activated Plasma Membrane Channel
Ma, R., Li, W.-P., Rundle, D., Kong, J., Akbarali, H. I., & Tsiokas, L. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.18.8285-8298.2005 · Cited by 177
Cited by
Hirschsprung disease, associated syndromes and genetics: a review
Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053959 · Cited by 1,206
Chapter Two Intraflagellar Transport (IFT)
Pedersen, L. B., & Rosenbaum, J. L. (2008) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(08)00802-8 · Cited by 521
Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., & Mykytyn, K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711027105 · Cited by 474
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
Zaghloul, N. A., & Katsanis, N. (2009) · Journal of Clinical Investigation · doi:10.1172/jci37041 · Cited by 364
Lechtreck, K.-F., Johnson, E. C., Sakai, T., Cochran, D., Ballif, B. A., Rush, J., Pazour, G. J., Ikebe, M., & Witman, G. B. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200909183 · Cited by 347
Metadata
- Authors
- Tobin, J. L., & Beales, P. L.
- Venue
- Pediatric Nephrology
- Published
- 2007-07
- Volume
- 22
- Issue
- 7
- Pages
- 926-936
- ISSN
- 0931-041X (ISSN-L)
- 1432-198X
- OpenAlex
- W2081691768
- Cited by
- 242
- References
- 7
- FWCI
- 14.07
- Type
- journal article
- Language
- en
- Open access
- hybrid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Bardet–Biedl syndrome: beyond the cilium. https://app.cochat.ai/papers/10.1007/s00467-007-0435-0
- The paper
- Tobin, J. L., & Beales, P. L. (2007). Bardet–Biedl syndrome: beyond the cilium. Pediatric Nephrology. https://doi.org/10.1007/s00467-007-0435-0
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
