bbs9 - Bardet-Biedl syndrome 9-BMKCloudï½ç¾è¿å®¢äº

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100333716 bbs9

基因描述

Type	Description
Definition	Bardet-Biedl syndrome 9

研究结论

Date	Results	Publications
2012-08-04 11:22:00	Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish.	22479622

名称对应

Type	IDs
Gene
Nucleutide sequences
Protein sequencees	RefSeq: XP_009290332.2, XP_021322521.1, XP_021328626.1
Others

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
27486776	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am. J. Hum. Genet. Anna Lindstrand , Stephan Frangakis , Claudia M B Carvalho , Ellen B Richardson , Kelsey A McFadden , Jason R Willer , Davut Pehlivan , Pengfei Liu , Igor L Pediaditakis , Aniko Sabo , Richard Alan Lewis , Eyal Banin , James R Lupski , Erica E Davis , Nicholas Katsanis	2016-08-04	-
26469318	RFX transcription factors are essential for hearing in mice. Nat Commun Ran Elkon , Beatrice Milon , Laura Morrison , Manan Shah , Sarath Vijayakumar , Manoj Racherla , Carmen C Leitch , Lorna Silipino , Shadan Hadi , MichÃ¨le Weiss-Gayet , EmmanuÃ¨le Barras , Christoph D Schmid , Aouatef Ait-Lounis , Ashley Barnes , Yang Song , David J Eisenman , Efrat Eliyahu , Gregory I Frolenkov , Scott E Strome , BÃ©nÃ©dicte Durand , Norann A Zaghloul , Sherri M Jones , Walter Reith , Ronna Hertzano	2015-10-15	-
25742415	Evaluation of zebrafish kidney function using a fluorescent clearance assay. J Vis Exp Sonia Christou-Savina , Philip L Beales , Daniel P S Osborn	2015-02-20	-
22479622	Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PLoS ONE Shobi Veleri , Kevin Bishop , Damian E Dalle Nogare , Milton A English , Trevor J Foskett , Ajay Chitnis , Raman Sood , Paul Liu , Anand Swaroop	2012-01-01	Bbs9, Ttc8, bbs9, tp53, BBS9
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	-
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

研究热度

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