EDA - ectodysplasin A-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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616179 EDA

基因描述

Type	Description
Definition	ectodysplasin A

研究结论

Date	Results	Publications
2011-12-17 12:00:00	Authors identifya mutation, never described before, that changes the regulation of alternative splicing in the EDA gene and causes ectodermal dysplasia in cattle.	21740563
2011-12-10 11:19:00	The 161-bp-long LINE1-derived-pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.	22034998
2011-07-02 10:03:00	describe a novel mutation of the EDA gene in which a 19 bp deletion in exon 1 in male Holstein calves demonstrated the phenotypic features of EDA	21410470
2010-01-21 00:00:00	A single point mutation within this gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle	12021844

名称对应

Type	IDs
Synonymous	ED1
Gene	UniProtKB-ID: EDA_BOVIN UniprotKB: Q9BEG5 UniParc: UPI000002A8A9, UPI0000129BC6 EMBL: AJ300468, AJ278907, AJ300469 KO: bta:616179
Nucleutide sequences	EMBL-CDS: CAC29152.1, CAC29151.1
Protein sequencees	RefSeq: XP_005228090.1, NP_001075212.1, XP_005228089.1, XP_005228091.1
Others	UniRef100: UniRef100_Q9BEG5 UniRef90: UniRef90_O54693 UniRef50: UniRef50_Q92838 UniGene: Bt.101611

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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
22034998	Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Anim. Genet. P Karlskov-Mortensen , S Cirera , O L Nielsen , J Arnbjerg , J Reibel , M Fredholm , J S Agerholm	2011-12-01	EDA
21740563	A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia. BMC Vet Res Maria Gargani , Alessio Valentini , Lorraine Pariset	2011-07-08	-
21410470	A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle. Hereditas Atsushi Ogino , Namiko Kohama , Shou Ishikawa , Keisuke Tomita , Sumie Nonaka , Kazuhiro Shimizu , Yoshihiro Tanabe , Hirokazu Okawa , Mitsuo Morita	2011-02-01	EDA
19393038	A whole-genome assembly of the domestic cow, Bos taurus. Genome Biol Aleksey V Zimin , Arthur L Delcher , Liliana Florea , David R Kelley , Michael C Schatz , Daniela Puiu , Finnian Hanrahan , Geo Pertea , Curtis P Van Tassell , Tad S Sonstegard , Guillaume MarÃ§ais , Michael Roberts , Poorani Subramanian , James A Yorke , Steven L Salzberg	2009-01-01	-
16305752	Characterization of 954 bovine full-CDS cDNA sequences. BMC Genomics Gregory P Harhay , Tad S Sonstegard , John W Keele , Michael P Heaton , Michael L Clawson , Warren M Snelling , Ralph T Wiedmann , Curt P Van Tassell , Timothy P L Smith	2005-01-01	STK24, UBAP2L, ERCC2, BTNL9, ATRAID, JMJD7, LRWD1, GPSM1, RAD54L, MKS1, CCBL1, FAM161B, LOC107131293, SERPINA1, AK1, AK2, BGN, CEL, CLU, DBH, DCN, DDC, FOS, NPC2, LEP, MOG, OGN, ST7, TST, ZP3, ACTB, PLIN2, AOC3, APOE, ARNT, CGN1, COX4I1, CTSV, ECE1, S1PR1, FDX1, FMOD, FSHR, FUT1, GNB1, GOT1, HPRT1, F11R, LDHB, M6PR, MAOA, MCM3, MDH2, MSRA, NCF1, NT5E, OLR1, P4HB, SERPINE1, PLAU, PLOD1, PON2, PPIB, PSAP, SDHA, SOD2, SPP1, TCN2, TPI1, VIL1, WASL, ACTG2, ALDH1A1, ANXA4, ANXA5, ANXA8L1, BCAT2, BLCAP, C4BPA, CCNB2, CCNG1, ACKR4, DNAJC14, COPZ1, CPSF3, CREB1, CREB3, CTBP2, ECHS1, EDNRA, FABP3, FABP5, HADHB, HSPA2, HSPA8, HYAL2, IKBKB, IKBKG, IMPA1
12021844	A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. J. Mol. Med. Cord DrÃ¶gemÃ¼ller , Martin Peters , Joachim Pohlenz , Ottmar Distl , Tosso Leeb	2002-05-01	EDA
11591646	Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Genome Res. C DrÃ¶gemÃ¼ller , O Distl , T Leeb	2001-10-01	Eda, EDA
11282978	Sequence evaluation of four pooled-tissue normalized bovine cDNA libraries and construction of a gene index for cattle. Genome Res. T P Smith , W M Grosse , B A Freking , A J Roberts , R T Stone , E Casas , J E Wray , J White , J Cho , S C Fahrenkrug , G L Bennett , M P Heaton , W W Laegreid , G A Rohrer , C G Chitko-McKown , G Pertea , I Holt , S Karamycheva , F Liang , J Quackenbush , J W Keele	2001-04-01	UBAP2L, ERCC2, BTNL9, SSLP1, C29H11orf68, PHRF1, GTF3A, JMJD7, SETDB1, LRWD1, GPSM1, RAD54L, STON1, C15H11orf96, C5H12orf75, MAP2K5, IFNT3, IFNT, LOC100335806, AOC2, LOC100848357, LOC100848895, SLX4IP, NUS1, MKS1, MEG9, FAM161B, LOC107131293, SERPINA1, AK1, AK2, BGN, CEL, DBH, DDC, FOS, HCK, LEP, MOG, PLG, REN, ST7, ZP3, ACTB, AOC3, ARNT, CGN1, ECE1, ECE2, S1PR1, FSHR, FUT1, GOT1, HPRT1, F11R, MCM3, NCF1, DHRS4, NT5E, OLR1, SERPINE1, PLOD1, PSAP, RCN1, PMEL, TCN2, VIL1, WASL, ABCF1, ANXA4, ANXA8L1, BCAT2, BFSP1, CCNB2, CCNG1, ACKR4, DNAJC14, COPZ1, CPSF3, CREB1, CREB3, EDNRA, TRMT2A, HYAL2, IKBKB, IKBKG, ITPR3, LALBA, MMP14, MOCS1, NCALD, NCAM1, OPCML, OVGP1, POLD2, PPARA, PSMD4, SARS2, TOP2B

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