| 释义 |
- References
- Further reading
- External links
{{Infobox_gene}}Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[1]Mutations in this gene are associated with the Bardet-Biedl syndrome.[1] References 1. ^1 {{cite journal | vauthors = Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N | title = Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2 | journal = Am. J. Hum. Genet. | volume = 72 | issue = 3 | pages = 650–8 |date=March 2003 | pmid = 12567324 | pmc = 1180240 | doi = 10.1086/368204 | url = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Oeffner F, Moch C, Neundorf A |title=Novel interaction partners of Bardet-Biedl syndrome proteins. |journal=Cell Motil. Cytoskeleton |volume=65 |issue= 2 |pages= 143–55 |year= 2008 |pmid= 18000879 |doi= 10.1002/cm.20250 |display-authors=etal}}
- {{cite journal |vauthors=Hillier LW, Graves TA, Fulton RS |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |display-authors=etal}}
- {{cite journal |vauthors=Nachury MV, Loktev AV, Zhang Q |title=A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. |journal=Cell |volume=129 |issue= 6 |pages= 1201–13 |year= 2007 |pmid= 17574030 |doi= 10.1016/j.cell.2007.03.053 |display-authors=etal}}
- {{cite journal |vauthors=Chung WK, Patki A, Matsuoka N |title=Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. |journal=Hum. Hered. |volume=67 |issue= 3 |pages= 193–205 |year= 2009 |pmid= 19077438 |doi= 10.1159/000181158 |pmc=2715950 |display-authors=etal}}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 |display-authors=etal}}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
- {{cite journal |vauthors=Yang Z, Yang Y, Zhao P |title=A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. |journal=Mol. Vis. |volume=14 |issue= |pages= 2304–8 |year= 2008 |pmid= 19093007 |doi= |pmc=2603185 |display-authors=etal}}
- {{cite journal |vauthors=Katsanis N, Ansley SJ, Badano JL |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. |journal=Science |volume=293 |issue= 5538 |pages= 2256–9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525 |display-authors=etal}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |display-authors=etal}}
- {{cite journal |vauthors=Bin J, Madhavan J, Ferrini W |title=BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. |journal=Hum. Mutat. |volume=30 |issue= 7 |pages= E737–46 |year= 2009 |pmid= 19402160 |doi= 10.1002/humu.21040 |display-authors=etal}}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
- {{MeshName|Bbs7+protein,+human|3=Bbs7 protein, human}}
- {{UCSC gene info|BBS7}}
{{Ciliary proteins}}{{gene-4-stub}} |