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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens zinc finger protein 469 (ZNF469), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001127464 Homo sapiens zinc finger protein 469 (ZNF469), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_001127464.1, 188536003
Length 13203 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens zinc finger protein 469 (ZNF469), mRNA.
Product zinc finger protein 469
Comment

Summary: This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008].


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on the predicted transcript XR_040937 and supporting data in Abu et al, PMID 18452888, but have not been experimentally confirmed.

RefSeq NP_001120936.1
CDS 1..11778
Misc Feature(1)<4..1266
Misc Feature(2)<4..1266
Misc Feature(3)<763..2169
Misc Feature(4)<3304..4545
Misc Feature(5)<4819..6732
Misc Feature(6)<6355..7698
Misc Feature(7)<7414..8979
Misc Feature(8)<10282..11730
Exon (1)3180..13203
Gene:ZNF469
Gene Synonym:BCS
Translation MPGERPRGAPPPTMTGDLQPRQVASSPGHPSQPPLEDNTPATRTTKGAREAGGQAQAMEL PEAQPRQARDGELKPPSLRGQAPSSTPGKRGSPQTPPGRSPLQAPSRLAGRAEGSPPQRY ILGIASSRTKPTLDETPENPQLEAAQLPEVDTPQGPGTGAPLRPGLPRTEAQPAAEELGF HRCFQEPPSSFTSTNYTSPSATPRPPAPGPPQSRGTSPLQPGSYPEYQASGADSWPPAAE NSFPGANFGVPPAEPEPIPKGSRPGGSPRGVSFQFPFPALHGASTKPFPADVAGHAFTNG PLVFAFHQPQGAWPEEAVGTGPAYPLPTQPAPSPLPCYQGQPGGLNRHSDLSGALSSPGA AHSAPRPFSDSLHKSLTKILPERPPSAQDGLGSTRGPPSSLPQRHFPGQAYRASGVDTSP GPPDTELAAPGPPPARLPQLWDPTAAPYPTPPGGPLAATRSMFFNGQPSPGQRLCLPQSA PLPWPQVLPTARPSPHGMEMLSRLPFPAGGPEWQGGSQGALGTAGKTPGPREKLPAVRSS QGGSPALFTYNGMTDPGAQPLFFGVAQPQVSPHGTPSLPPPRVVGASPSESPLPSPATNT AGSTCSSLSPMSSSPANPSSEESQLPGPLGPSAFFHPPTHPQETGSPFPSPEPPHSLPTH YQPEPAKAFPFPADGLGAEGAFQCLEETPFPHEGPEVGRGGLQGFPRAPPPYPTHHFSLS SASLDQLDVLLTCRQCDRNYSSLAAFLAHRQFCGLLLARAKDGHQRSPGPPGLPSPPAAP RVPADAHAGLLSHAKTFLLAGDAQAEGKDDPLRTGFLPSLAATPFPLPASDLDMEDDAKL DSLITEALNGMEYQSDNPEIDSSFIDVFADEEPSGPRGPSSGHPLKSKAGVTPESKAPPP LPAATPDPQTPRPGDRGCPARGRPKTRSLGLAPTEADAPSQGRQQRRGKQLKLFRKDLDS GGAAEGSGSGGGGRASGLRPRRNDGLGERPPPRPRRPRTQAPGSRADPAPRVPRAAALPE ETRSSRRRRLPPRKDPRKRKARGGAWGKELILKIVQQKNRLREYDFASESEEDEQPPPRG PGFRGRRGRGEKRKEVELTQGPREDEPQKPRKAARQEAGGDGAPANPEEPGGSRPGPGRS PQARGPSRSLETGAAAREGGPKCADRPSVAPKDPLQVPTNTETSEETRPSLDFPQEAKEP ETAEESAPDSTEFTEALRSPPAACAGEMGASPGLLIPEQPPPSRHDTGTPKPSGSLANTA PHGSSPTPGVGSLLGGPGGTQAPVSHNSKDPPARQPGEFLAPVANPSSTACPKPSVLSSK ISSFGCDPAGFNRDPLGVPVAKKGPQPYSSPHSELFLGPKDLAGCFLEELHPKPSARDAP PASSSCLCQDGEDAGSLEPQLPRSPPGTAETEPGRAASPPTLESSSLFPDLPVDRFDPPL YGSLSANRDSGLPFACADPPQKTVPSDPPYPSFLLLEEVSPMLPSHFPDLSGGKVLSKTC PPERTVVPGAAPSLPGKGSGCSVALMSHLSEDELEIQKLVTELESQLQRSKDTRGAPREL AEAESVGRVELGTGTEPPSQRRTCQATVPHEDTFSAADLTRVGESTAHREGAESAVATVE AVQGRPGGTWPCPASFHPGHAALLPCAQEDLVSGAPFSPRGANFHFQPVQKAGASKTGLC QAEGDSRPPQDVCLPEPSKQPGPQLDAGSLAKCSPDQELSFPKNKEAASSQESEDSLRLL PCEQRGGFLPEPGTADQPHRGAPAPEAFGSPAVHLAPDLAFQGDGAPPLDATWPFGASPS HAAQGHSAGRAGGHLHPTAGRPGFEGNEFAPAGASSLTAPRGREAWLVPVPSPACVSNTH PSRRSQDPALSPPIRQLQLPGPGVAKSKDGILGLQELTPAAQSPPRVNPSGLEGGTVEGG KVACGPAQGSPGGVQVTTLPAVAGHQLGLEADGHWGLLGQAEKTQGQGTANQLQPENGVS PGGTDNHASVNASPKTALTGPTEGAVLLEKCKGSRAAMSLQEEAEPTPSPPSPNRESLAL ALTAAHSRSGSEGRTPERASSPGLNKPLLATGDSPAPSVGDLAACAPSPTSAAHMPCSLG PLPREDPLTSPSRAQGGLGGQLPASPSCRDPPGPQQLLACSPAWAPLEEADGVQATTDTG AEDSPVAPPSLTTSPCDPKEALAGCLLQGEGSPLEDPSSWPPGSVSAVTCTHSGDTPKDS TLRIPEDSRKEKLWESPGRATSPPLAGAVSPSVAVRATGLSSTPTGDEAQAGRGLPGPDP QSRGAPPHTNPDRMPRGHSSYSPSNTARLGHREGQAVTAVPTEPPTLQGAGPDSPACLEG EMGTSSKEPEDPGTPETGRSGATKMPRVTCPSTGLGLGRTTAPSSTASDFQSDSPQSHRN ASHQTPQGDPLGPQDLKQRSRGYKKKPASTENGQWKGQAPHGPVTCEVCAASFRSGPGLS RHKARKHRPHPGAPAEPSPAALPAQQPLEPLAQKCQPPRKKSHRVSGKERPNHSRGDPSH VTQPPPAQGSKEVLRAPGSPHSQQLHPPSPTEHEVDVKTPASKPRPDQAREDELHPKQAE KREGRRWRREPTVDSPSHSEGKSNKKRGKLRGRRLREESILPVSADVISDGRGSRPSPAM ASYAASPSHCLSVEGGPEADGEQPPRLATLGPGVMEGAAETDQEALCAGETGAQKPPGDR MLCPGRMDGAALGEQPTGQKGASARGFWGPRETKALGVCKESGSEPAEDSSRAHSRSEEG VWEENTPPLGPLGFPETSSSPADSTTSSCLQGLPDNPDTQGGVQGPEGPTPDASGSSAKD PPSLFDDEVSFSQLFPPGGRLTRKRNPHVYGKRCEKPVLPLPTQPSFEEGGDPTLGPARL PTDLSDSSSLCLCHEDPWEDEDPAGLPESFLLDGFLNSRVPGIDPWAPGLSLWALEPSRE AGAEKLPSHCPEDDRPEAIPELHMVPAAWRGLEMPAPADDSSSSLGDVSPEPPSLERERC DGGLPGNTHLLPLRATDFEVLSTKFEMQDLCFLGPFEDPVGLPGPSFLDFEGTASSQGPQ SRRTEEAAGAGRAQGRGRPAKGRRASYKCKVCFQRFRSLGELDLHKLAHTPAPPPTCYMC VERRFGSRELLRGHLQERHAQSKAGPWACGMCLKEVADVWMYNEHLREHAVRFARRGQAR RSLGDLPGGLEGSSAVAHLLNSITEPAPKHHRGKRSAGKAAGSPGDPWGQEGEAKKDSPG ERAKPRARSTPSNPDGAATPDSASATALADAGSPGPPRTTPSPSPDPWAGGEPLLQATPV HEACKDPSRDCHHCGKRFPKPFKLQRHLAVHSPQRVYLCPRCPRVYPEHGELLAHLGGAH GLLERPELQHTPLYACELCATVMRIIKKSFACSSCNYTFAKKEQFDRHMNKHLRGGRQPF AFRGVRRPGAPGQKARALEGTLPSKRRRVAMPGSAPGPGEDRPPPRGSSPILSEGSLPAL LHLCSEVAPSTTKGWPETLERPVDPVTHPIRGCELPSNHQECPPPSLSPFPAALADGRGD CALDGALERPENEASPGSPGPLLQQALPLGASLPRPGARGQDAEGKRAPLVFSGKRRAPG ARGRCAPDHFQEDHLLQKEKEVSSSHMVSEGGPRGTFHKGSATKPAGCQSSSKDRSAAST PSKALKFPVHPRKAVGSLAPGELARGTENGMKPATPKAKPGPSSQGSGSPRPGTKTGGGS QPQPASGQLQSETATTPAKPSFPSRSPAPERLPARAQAKSCTKGPREAGEQGPHGSLGPK EKGESSTKRKKGQVPGPARSESVGSFGRAPSAPDKPPRTPRKQATPSRVLPTKPKPNSQN KPRPPPSEQRKAEPGHTQRKDRLGKAFPQGRPLLRPPKRGTAVHGAEPAEPHTHRTAEAQ SDLLSQLFGQRLTGFKIPLKKDASE
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Position Chain Variation Link
36+dbSNP:
36+c, gdbSNP:371091595
62+a, gdbSNP:145178398
77+c, gdbSNP:273585616
99+a, gdbSNP:273585631
139+a, gdbSNP:138954293
290+c, tdbSNP:273585617
327+a, gdbSNP:192479136
381+a, gdbSNP:116028037
464+c, gdbSNP:71394098
600+c, tdbSNP:377475711
627+g, tdbSNP:113227277
663+c, tdbSNP:370275746
720+a, gdbSNP:273585632
723+c, tdbSNP:150745096
869+c, tdbSNP:117501524
946+a, gdbSNP:368772806
952+a, gdbSNP:139066376
969+a, cdbSNP:113483623
992+c, tdbSNP:149485731
1020+c, tdbSNP:273585633
1037..1038+, ccccdbSNP:148030358
1069+c, tdbSNP:11648572
1098+a, cdbSNP:11640794
1143+a, cdbSNP:74032864
1285+a, gdbSNP:113937803
1471+a, gdbSNP:117555121
1483+c, tdbSNP:202205643
1489+a, gdbSNP:28723506
1524+, gdbSNP:200675426
1529+c, gdbSNP:7199961
1584+a, gdbSNP:143852982
1609+a, gdbSNP:184458982
1615+a, tdbSNP:189476639
1697+c, tdbSNP:181785233
1776+a, gdbSNP:12927001
1827+a, gdbSNP:148616993
1827+c, tdbSNP:386504995
1829+c, tdbSNP:369993792
1911+a, gdbSNP:373169260
1974..1975+, cdbSNP:57752057
1994+c, tdbSNP:184583062
2034+c, tdbSNP:58401704
2085+c, tdbSNP:74547407
2119+c, tdbSNP:188954563
2130+c, tdbSNP:12918876
2297+a, gdbSNP:144492145
2370+a, gdbSNP:147859144
2407+g, tdbSNP:113484918
2478+g, tdbSNP:273585634
2572+a, cdbSNP:181719686
2574+c, gdbSNP:74384633
2620..2640+, tccggccccagaggtcccagcdbSNP:113102840
2643+c, gdbSNP:273585635
2653+c, gdbSNP:139653501
2666+c, tdbSNP:145186655
2699+c, g, tdbSNP:273585618
2717+c, tdbSNP:77951481
2803+a, gdbSNP:117995699
2811+a, tdbSNP:377534548
2814+a, gdbSNP:140480823
2841+a, gdbSNP:150435442
2873+c, tdbSNP:370402083
2913+a, cdbSNP:60462217
3027+a, gdbSNP:186499941
3111+g, tdbSNP:12927115
3119+a, cdbSNP:273585619
3121+a, gdbSNP:191396489
3125+a, gdbSNP:181077813
3153+c, tdbSNP:9924504
3344+dbSNP:
3344+g, tdbSNP:367683886
3388+c, tdbSNP:184894059
3432+c, tdbSNP:111557381
3438+a, gdbSNP:9938800
3484+a, gdbSNP:7197071
3566+c, tdbSNP:115183769
3668+c, tdbSNP:190928557
3689+a, cdbSNP:141255631
3791+c, gdbSNP:183126539
3810+c, gdbSNP:115790991
3847+c, tdbSNP:187453092
4016..4017+, cdbSNP:34835550
4030+a, gdbSNP:368674617
4114+a, cdbSNP:145158875
4143+a, gdbSNP:371897217
4174+g, tdbSNP:387907063
4202+c, tdbSNP:62047114
4236+a, gdbSNP:374090900
4247+c, tdbSNP:113957796
4259+c, tdbSNP:4782300
4279+c, gdbSNP:116532825
4322+a, gdbSNP:116072997
4335+g, tdbSNP:12445417
4337+c, tdbSNP:199897247
4338+a, gdbSNP:368877287
4350+c, tdbSNP:74032865
4363+g, tdbSNP:273585620
4371+c, tdbSNP:375783673
4372+a, gdbSNP:373777402
4388+c, tdbSNP:375045076
4390+a, gdbSNP:190630095
4394+c, tdbSNP:369382753
4395+a, gdbSNP:373162171
complement(4423)-g, cdbSNP:139043003
4443+a, gdbSNP:368668712
4447+c, tdbSNP:375762899
4457+a, gdbSNP:370153731
4487+g, tdbSNP:111916311
4496+c, tdbSNP:183617173
4497+a, gdbSNP:188162391
4515+a, cdbSNP:142246629
4528+a, gdbSNP:200684392
4567+a, gdbSNP:143740518
4591+a, gdbSNP:376951144
4671+a, gdbSNP:370447132
4800+a, gdbSNP:141666432
4826+c, gdbSNP:273585621
4842+a, gdbSNP:117310292
4905+c, tdbSNP:369706261
4922+c, tdbSNP:200070902
5003+c, tdbSNP:115487796
5063+c, tdbSNP:375253239
5145+a, cdbSNP:192819567
5169+c, gdbSNP:371449478
5181+c, tdbSNP:367692750
5182+a, gdbSNP:371328036
5222+c, tdbSNP:150543090
5253+a, gdbSNP:140280704
5256+c, g, tdbSNP:184374078
5330+a, cdbSNP:78446958
5456+c, tdbSNP:374091782
5464+a, cdbSNP:199932922
5560+a, gdbSNP:74032866
5577+c, gdbSNP:9931465
5613+c, tdbSNP:111986360
5740+a, gdbSNP:114755302
5772+c, tdbSNP:186652137
5778+c, gdbSNP:201666199
5829+c, tdbSNP:139723958
5948+a, gdbSNP:79155191
5952+a, gdbSNP:149961653
5962+a, gdbSNP:368679510
5991+a, gdbSNP:373300146
5998+a, gdbSNP:192580109
6007+a, gdbSNP:273585622
6095+a, cdbSNP:273585623
6175+a, gdbSNP:144986357
6333+c, tdbSNP:369067040
6347+a, gdbSNP:56704016
6378+a, gdbSNP:61472141
6386+a, gdbSNP:13334190
6396+c, tdbSNP:370190101
6457+a, gdbSNP:113838400
6468+g, tdbSNP:12919507
6507+a, gdbSNP:373975520
6524+c, tdbSNP:376402207
6581+c, tdbSNP:78213929
6612+c, tdbSNP:377506846
6613+a, gdbSNP:369117913
6655+a, gdbSNP:371739743
6693+a, gdbSNP:76442115
6695+a, gdbSNP:75136873
6716+a, gdbSNP:181887079
6725+a, cdbSNP:273585624
6860+c, gdbSNP:77490207
6894+c, gdbSNP:185282301
6995+c, tdbSNP:76389306
7072+c, gdbSNP:12598474
7076+a, gdbSNP:111828626
7084+c, gdbSNP:117474182
7150+a, cdbSNP:376972141
7181+a, cdbSNP:201540905
7183+a, cdbSNP:199727372
7387+a, gdbSNP:74032867
7424+a, cdbSNP:141218390
7469+a, cdbSNP:201943633
7527+c, gdbSNP:199519673
7591+a, gdbSNP:146789160
7623+c, tdbSNP:140697844
7680+a, gdbSNP:117149938
7721+c, tdbSNP:150488251
7754+a, gdbSNP:370285147
7763+a, gdbSNP:368063668
7766+a, gdbSNP:200019229
7851+a, gdbSNP:189596398
7891+a, gdbSNP:370043591
7897+a, gdbSNP:138259179
7899+c, tdbSNP:181124665
7909+a, tdbSNP:372973682
7918+a, gdbSNP:185140766
7983+a, gdbSNP:116213189
7992+a, gdbSNP:149200506
complement(8009)-t, adbSNP:3812956
8037+a, gdbSNP:116696830
8079+c, tdbSNP:113274745
8098+a, cdbSNP:143073976
8122+a, gdbSNP:374110064
complement(8128)-t, cdbSNP:3812955
8154+a, gdbSNP:372014903
8168+c, tdbSNP:376638940
complement(8246)-t, adbSNP:3812954
8272..8273+, tdbSNP:35399328
8297+c, tdbSNP:202188220
8325+c, tdbSNP:376502074
8411+a, gdbSNP:371361395
8419+c, gdbSNP:200153921
complement(8520)-g, adbSNP:3812953
8541..8543+acg, gcadbSNP:386794006
8541+a, gdbSNP:138771545
8543+c, tdbSNP:1983014
8558+a, gdbSNP:142753357
8610+c, tdbSNP:114884145
8611+a, gdbSNP:202129382
8612+a, gdbSNP:79815243
8691+a, gdbSNP:188044647
8704+g, tdbSNP:76792613
8740+a, gdbSNP:372436770
8784+c, tdbSNP:137930753
8912+g, tdbSNP:273585625
8920+a, cdbSNP:141776185
8956+a, gdbSNP:201438224
8979+c, tdbSNP:374160099
8995+c, tdbSNP:376513000
9041+a, gdbSNP:150598363
9047+c, tdbSNP:273585626
complement(9077)-c, adbSNP:139565761
9129+c, tdbSNP:267604675
9146+a, gdbSNP:376981441
9243+c, gdbSNP:369198557
9281+a, gdbSNP:376055908
9471+c, gdbSNP:273585636
9618+a, cdbSNP:180767077
9835+a, gdbSNP:273585627
9896+c, tdbSNP:186421933
9932+g, tdbSNP:112040151
9950+a, gdbSNP:79339739
9963+c, tdbSNP:113196966
10016+a, gdbSNP:387907062
10048+c, gdbSNP:192272765
10101+c, gdbSNP:149732077
10217..10218+, ccccdbSNP:146088640
10241+c, gdbSNP:199528724
10242+c, gdbSNP:56236932
10244+g, tdbSNP:140056980
10277+a, gdbSNP:75288466
10387..10389+, cctdbSNP:145451469
10388+c, gdbSNP:183437633
10404+a, cdbSNP:186812279
10434+a, gdbSNP:376379111
10489+a, gdbSNP:273585628
10515+c, tdbSNP:78022634
10521+c, gdbSNP:375672779
10572+a, gdbSNP:191234581
10616+a, gdbSNP:199610834
10624+a, gdbSNP:57052487
10633+a, gdbSNP:183149417
10711+g, tdbSNP:199760004
10771+a, c, gdbSNP:111494864
10804+c, tdbSNP:200668806
10843+c, tdbSNP:273585637
10846+c, tdbSNP:142967775
10888+c, gdbSNP:1105066
complement(10891)-t, cdbSNP:3812951
complement(10906)-t, cdbSNP:904783
10937+c, tdbSNP:368960114
11022+a, gdbSNP:372538769
11023+a, gdbSNP:151127652
11101+a, gdbSNP:273585629
11193+c, tdbSNP:372634401
11322+a, cdbSNP:141042464
11325+c, gdbSNP:150233193
11341+a, gdbSNP:201834513
11370+a, gdbSNP:377311926
11375+g, tdbSNP:373034137
11483+a, gdbSNP:187075195
11484+c, tdbSNP:367547260
11485+a, gdbSNP:371430688
11493+a, gdbSNP:191554921
11561+c, tdbSNP:376013703
11574..11575+, tdbSNP:35531824
11574+c, gdbSNP:182269913
11615+c, tdbSNP:273585630
11673+a, gdbSNP:4782301
11675+a, tdbSNP:188087134
11687+c, tdbSNP:139259830
11724+c, tdbSNP:370915546
11772+c, tdbSNP:4782362
11786+a, gdbSNP:45504291
11824+a, cdbSNP:78600508
11870+c, tdbSNP:112273342
11994+a, gdbSNP:146964491
complement(11996)-g, adbSNP:137889724
12042+a, gdbSNP:193210256
12063+c, tdbSNP:35994806
12099+c, tdbSNP:367997421
12102+c, tdbSNP:144138294
12198+a, gdbSNP:45532839
complement(12199)-t, gdbSNP:148260049
complement(12235)-t, gdbSNP:3896672
12240+c, gdbSNP:185208626
12270+a, gdbSNP:190108769
complement(12325..12326)-, atgaccctgtggtcagagggaggaggcdbSNP:3838248
12325+g, tdbSNP:370886541
12354..12355+, cctcctccctctgaccacagggtcatgdbSNP:150183251
12377+c, gdbSNP:146233624
12382..12383+, tcctccctctgaccacagggtcatgccdbSNP:6145934
12383..12384+ag, tdbSNP:386794007
12384+g, tdbSNP:146538838
complement(12396)-c, adbSNP:3859020
12412+a, cdbSNP:74032868
12443+a, gdbSNP:75706884
12502+c, tdbSNP:372563659
complement(12531)-c, adbSNP:139329995
12549+a, gdbSNP:199513682
12566+a, gdbSNP:3894713
12623+c, tdbSNP:7187709
12638+, tdbSNP:35684712
12647..12648+, ttdbSNP:375918815
12685+a, gdbSNP:1048192
12699..12700+, gdbSNP:11382974
12700..12701+, gdbSNP:376433333
12750+c, tdbSNP:7196385
12779+a, gdbSNP:3848234
12783+a, gdbSNP:192750521
12800+c, gdbSNP:146343053
12843+a, gdbSNP:61736856
12885+a, cdbSNP:372569052
12960+a, gdbSNP:184099653
13095+c, gdbSNP:369207257
13110+c, tdbSNP:188504260
13169+, tdbSNP:35900533
Gene SymbolZNF469
Gene SynonymBCS
Chromosome16
Locus Map16q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001127464 Homo sapiens zinc finger protein 469 (ZNF469), mRNA. On-demand TBD TBD
Title Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error .
Author Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Hohn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Parssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM and Baird PN.
Journal Am. J. Hum. Genet. 93 (2), 264-277 (2013)
Title ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components .
Author Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD and Giunta C.
Journal Mol. Genet. Metab. 109 (3), 289-295 (2013)
Title Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus .
Author Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S and Wong TY.
Journal Nat. Genet. 45 (2), 155-163 (2013)
Title Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype .
Author Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T and Alkuraya FS.
Journal Gene 511 (2), 447-450 (2012)
Title Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness .
Author Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N and Mirshahi A.
Journal Hum. Genet. 131 (11), 1783-1793 (2012)
Title New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8 .
Author Vitart V, Bencic G, Hayward C, Skunca Herman J, Huffman J, Campbell S, Bucan K, Navarro P, Gunjaca G, Marin J, Zgaga L, Kolcic I, Polasek O, Kirin M, Hastie ND, Wilson JF, Rudan I, Campbell H, Vatavuk Z, Fleck B and Wright A.
Journal Hum. Mol. Genet. 19 (21), 4304-4311 (2010)
Title Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X) .
Author Khan,A.O., Aldahmesh,M.A., Mohamed,J.N. and Alkuraya,F.S.
Journal Arch. Ophthalmol. 128 (10), 1376-1379 (2010)
Title Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness .
Author Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE and Mackey DA.
Journal PLoS Genet. 6 (5), E1000947 (2010)
Title Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene .
Author Christensen AE, Knappskog PM, Midtbo M, Gjesdal CG, Mengel-From J, Morling N, Rodahl E and Boman H.
Journal Invest. Ophthalmol. Vis. Sci. 51 (1), 47-52 (2010)
Title Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome .
Author Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H and Pras E.
Journal Am. J. Hum. Genet. 82 (5), 1217-1222 (2008)

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