“BBS2”的意思、由来-开放百科全书

This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.^[2]

References

1. ^{{cite journal | vauthors = Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC | title = Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) | journal = Hum Mol Genet | volume = 10 | issue = 8 | pages = 865–74 |date=Apr 2001 | pmid = 11285252 | pmc = | doi =10.1093/hmg/10.8.865 }}
2. ^¹{{cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583| accessdate = }}

Further reading

{{cite journal | author=Kwitek-Black AE |title=Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 392–6 |year= 1994 |pmid= 8298649 |doi= 10.1038/ng1293-392 |name-list-format=vanc| author2=Carmi R | author3=Duyk GM | display-authors=3 | last4=Buetow | first4=Kenneth H. | last5=Elbedour | first5=Khalil | last6=Parvari | first6=Ruti | last7=Yandava | first7=Chandra Naidu | last8=Stone | first8=Edwin M. | last9=Sheffield | first9=Val C. }}

{{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}

{{cite journal | author=Beales PL |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977–85 |year= 2001 |pmid= 11096143 |doi=10.1093/ndt/15.12.1977 |name-list-format=vanc| author2=Reid HA | author3=Griffiths MH | display-authors=3 | last4=Maher | first4=ER | last5=Flinter | first5=FA | last6=Woolf | first6=AS }}

{{cite journal | author=Katsanis N |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 |name-list-format=vanc| author2=Ansley SJ | author3=Badano JL | display-authors=3 | last4=Eichers | first4=ER | last5=Lewis | first5=RA | last6=Hoskins | first6=BE | last7=Scambler | first7=PJ | last8=Davidson | first8=WS | last9=Beales | first9=PL }}

{{cite journal | author=Strausberg RL |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= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{cite journal | author=Badano JL |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 |year= 2003 |pmid= 12567324 |doi=10.1086/368204 | pmc=1180240 |name-list-format=vanc| author2=Ansley SJ | author3=Leitch CC | display-authors=3 | last4=Lewis | first4=Richard Alan | last5=Lupski | first5=James R. | last6=Katsanis | first6=Nicholas }}

{{cite journal | author=Beales PL |title=Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187–99 |year= 2003 |pmid= 12677556 |doi=10.1086/375178 | pmc=1180271 |name-list-format=vanc| author2=Badano JL | author3=Ross AJ | display-authors=3 | last4=Ansley | first4=Stephen J. | last5=Hoskins | first5=Bethan E. | last6=Kirsten | first6=Brigitta | last7=Mein | first7=Charles A. | last8=Froguel | first8=Philippe | last9=Scambler | first9=Peter J. }}

{{cite journal | author=Badano JL |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=10.1093/hmg/ddg188 |name-list-format=vanc| author2=Kim JC | author3=Hoskins BE | display-authors=3 | last4=Lewis | first4=RA | last5=Ansley | first5=SJ | last6=Cutler | first6=DJ | last7=Castellan | first7=C | last8=Beales | first8=PL | last9=Leroux | first9=MR }}

{{cite journal | vauthors=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151–7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241 }}

{{cite journal | author=Ota 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 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}

{{cite journal | author=Gerhard DS |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 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}

{{cite journal | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |name-list-format=vanc| author2=Venkatesan K | author3=Hao T | display-authors=3 | last4=Hirozane-Kishikawa | first4=Tomoko | last5=Dricot | first5=Amélie | last6=Li | first6=Ning | last7=Berriz | first7=Gabriel F. | last8=Gibbons | first8=Francis D. | last9=Dreze | first9=Matija }}

References

External links

Further reading