bbs1 - Bardet-Biedl syndrome 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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568986 bbs1

基因描述

Type	Description
Definition	Bardet-Biedl syndrome 1

研究结论

Date	Results	Publications
2014-08-28 16:09:00	Loss-of-function of bbs1 or bbs3 in zebrafish results in the same phenotypes as knockdown of other Bardet-Biedl syndrome genes.[bbs3]	18381349
2014-06-21 13:07:00	loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.	24691443
2010-01-21 00:00:00	Loss-of-function of bbs1 or bbs3 in zebrafish results in the same phenotypes as knockdown of other Bardet-Biedl syndrome genes.	18381349

名称对应

Type	IDs
Synonymous	im:7144669
Gene	UniProtKB-ID: A4QP86_DANRE UniprotKB: A4QP86 UniParc: UPI0000F70598 EMBL: BC162522, BC139697 KO: dre:568986
Nucleutide sequences	EMBL-CDS: AAI39698.1, AAI62522.1
Protein sequencees	RefSeq: NP_001091721.1
Others	UniRef100: UniRef100_A4QP86 UniRef90: UniRef90_A4QP86 UniRef50: UniRef50_A4QP86 UniGene: Dr.43752

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mRNA

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Pubmed编号	文献信息	发表日期	相关基因
29155729	Sample Preparation and Analysis of RNASeq-based Gene Expression Data from Zebrafish. J Vis Exp Timothy L Hostelley , Jessica E Nesmith , Norann A Zaghloul	2017-10-27	-
26494903	Differential effects on Î²-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum. Mol. Genet. Sukanya Lodh , Timothy L Hostelley , Carmen C Leitch , Elizabeth A O'Hare , Norann A Zaghloul	2016-01-01	isl1, neurod1, tp53, pdx1, sst1.1, gcga, alms1, bbs1, bbs4
24681783	Basal body proteins regulate Notch signaling through endosomal trafficking. J. Cell. Sci. Carmen C Leitch , Sukanya Lodh , Victoria Prieto-EchagÃ¼e , Jose L Badano , Norann A Zaghloul	2014-06-01	dla, neurog1, odf3b, tsg101a, arl6, bbs1, notch3, bbs4, BBS1, BBS4, ALMS1
24691443	Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest Yangfan P Liu , I-Chun Tsai , Manuela Morleo , Edwin C Oh , Carmen C Leitch , Filomena Massa , Byung-Hoon Lee , David S Parker , Daniel Finley , Norann A Zaghloul , Brunella Franco , Nicholas Katsanis	2014-05-01	-
24069149	A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. PLoS ONE Yun Hee Kim , Daniel Epting , Krasimir Slanchev , Christina Engel , Gerd Walz , Albrecht Kramer-Zucker	2013-01-01	glis2a, glis2b, lft2, egr2b, ins, myod1, foxa3, myl7, bbs1
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
21258341	TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet Erica E Davis , Qi Zhang , Qin Liu , Bill H Diplas , Lisa M Davey , Jane Hartley , Corinne Stoetzel , Katarzyna Szymanska , Gokul Ramaswami , Clare V Logan , Donna M Muzny , Alice C Young , David A Wheeler , Pedro Cruz , Margaret Morgan , Lora R Lewis , Praveen Cherukuri , Baishali Maskeri , Nancy F Hansen , James C Mullikin , Robert W Blakesley , Gerard G Bouffard , NISC Comparative Sequencing Program , Gabor Gyapay , Susanne Rieger , Burkhard TÃ¶nshoff , Ilse Kern , Neveen A Soliman , Thomas J Neuhaus , Kathryn J Swoboda , Hulya Kayserili , Tomas E Gallagher , Richard A Lewis , Carsten Bergmann , Edgar A Otto , Sophie Saunier , Peter J Scambler , Philip L Beales , Joseph G Gleeson , Eamonn R Maher , Tania AttiÃ©-Bitach , HÃ©lÃ¨ne Dollfus , Colin A Johnson , Eric D Green , Richard A Gibbs , Friedhelm Hildebrandt , Eric A Pierce , Nicholas Katsanis	2011-03-01	-
20498079	Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A Norann A Zaghloul , Yangjian Liu , Jantje M Gerdes , Cecilia Gascue , Edwin C Oh , Carmen C Leitch , Yana Bromberg , Jonathan Binkley , Rudolph L Leibel , Arend Sidow , Jose L Badano , Nicholas Katsanis	2010-06-08	-
19081074	A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev. Cell Alexander V Loktev , Qihong Zhang , John S Beck , Charles C Searby , Todd E Scheetz , J Fernando Bazan , Diane C Slusarski , Val C Sheffield , Peter K Jackson , Maxence V Nachury	2008-12-01	-
18381349	Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum. Mol. Genet. Marwan K Tayeh , Hsan-Jan Yen , John S Beck , Charles C Searby , Trudi A Westfall , Hilary Griesbach , Val C Sheffield , Diane C Slusarski	2008-07-01	bbs10, bbs2, shha, mkks, bbs5, arl6, bbs7, trim32, bbs1, bbs12, ttc8, bbs4

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