mkks - McKusick-Kaufman syndrome-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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393134 mkks

基因描述

Type	Description
Definition	McKusick-Kaufman syndrome

研究结论

Date	Results	Publications
2017-08-19 11:02:00	We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 and find, by transcriptional profiling, similar transcriptional changes following smarcc1a and bbs6 manipulation. Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.	28753627

名称对应

Type	IDs
Synonymous	bbs6, zgc:55608
Gene	UniProtKB-ID: Q7ZVV0_DANRE UniprotKB: Q7ZVV0 UniParc: UPI000000B80D EMBL: BC045401, BC165312 KO: dre:393134
Nucleutide sequences	EMBL-CDS: AAH45401.1, AAI65312.1
Protein sequencees	RefSeq: XP_021336216.1, XP_021336215.1, NP_956459.1
Others	UniRef100: UniRef100_Q7ZVV0 UniRef90: UniRef90_Q7ZVV0 UniRef50: UniRef50_Q7ZVV0 UniGene: Dr.80479

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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
31506453	Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Sci Rep Sheila Castro-SÃ¡nchez , Paula Suarez-Bregua , Rossina Novas , MarÃa Ãlvarez-Satta , Jose L Badano , Josep Rotllant , Diana Valverde	2019-09-10	-
28753627	Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet Charles Anthony Scott , Autumn N Marsden , Michael R Rebagliati , Qihong Zhang , Xitiz Chamling , Charles C Searby , Lisa M Baye , Val C Sheffield , Diane C Slusarski	2017-07-01	-
22446187	Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest Rivka A Rachel , Helen L May-Simera , Shobi Veleri , Norimoto Gotoh , Byung Yoon Choi , Carlos Murga-Zamalloa , Jeremy C McIntyre , Jonah Marek , Irma Lopez , Alice N Hackett , Jun Zhang , Matthew Brooks , Anneke I den Hollander , Philip L Beales , Tiansen Li , Samuel G Jacobson , Raman Sood , Jeffrey R Martens , Paul Liu , Thomas B Friedman , Hemant Khanna , Robert K Koenekoop , Matthew W Kelley , Anand Swaroop	2012-04-01	-
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	-
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
18327255	Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. Carmen C Leitch , Norann A Zaghloul , Erica E Davis , Corinne Stoetzel , Anna Diaz-Font , Suzanne Rix , Majid Alfadhel , Majid Al-Fadhel , Richard Alan Lewis , Wafaa Eyaid , Eyal Banin , Helene Dollfus , Philip L Beales , Jose L Badano , Nicholas Katsanis	2008-04-01	-
17906624	Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet Jantje M Gerdes , Yangfan Liu , Norann A Zaghloul , Carmen C Leitch , Shaneka S Lawson , Masaki Kato , Philip A Beachy , Philip L Beales , George N DeMartino , Shannon Fisher , Jose L Badano , Nicholas Katsanis	2007-11-01	-
17490614	Identification of zygotic genes expressed at the midblastula transition in zebrafish. Biochem. Biophys. Res. Commun. Shaun O'Boyle , Ronan T Bree , Sarah McLoughlin , Maura Grealy , Lucy Byrnes	2007-06-29	clstn2, gb:am422109, hist1h4l, snrpd1, tram1, apoeb, otx1b, eef1a1l1, sox3, nnr, pcbp2, gtf2a1, kpna4, atp6v1g1, thy1, hspb1, rdh10b, prelid3b, mkks, tmem150ab, dopey2, cdk7, marcksl1a, sft2d3, arpc3, kpna2, entpd4, fbxo5, glrx, snf8, ddx42, lratb, ca7, pnrc2, rnpc3, rbm4.1, vox, klf17, zgc:113886

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