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Items: 1 to 20 of 92

1.

Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes.

Kringen MK, Stormo C, Grimholt RM, Berg JP, Piehler AP.

BMC Res Notes. 2012 Aug 9;5:425. doi: 10.1186/1756-0500-5-425.

2.

Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.

Kringen MK, Stormo C, Berg JP, Terry SF, Vocke CM, Rizvi S, Hendig D, Piehler AP.

Mol Genet Genomic Med. 2015 May;3(3):233-7. doi: 10.1002/mgg3.137. Epub 2015 Mar 8.

3.

The human ABC transporter pseudogene family: Evidence for transcription and gene-pseudogene interference.

Piehler AP, Hellum M, Wenzel JJ, Kaminski E, Haug KB, Kierulf P, Kaminski WE.

BMC Genomics. 2008 Apr 11;9:165. doi: 10.1186/1471-2164-9-165.

4.

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

Pulkkinen L, Nakano A, Ringpfeil F, Uitto J.

Hum Genet. 2001 Sep;109(3):356-65.

PMID:
11702217
5.

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

Cai L, Lumsden A, Guenther UP, Neldner SA, Zäch S, Knoblauch H, Ramesar R, Hohl D, Callen DF, Neldner KH, Lindpaintner K, Richards RI, Struk B.

J Mol Med (Berl). 2001 Sep;79(9):536-46.

PMID:
11692167
6.

How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.

Symmons O, Váradi A, Arányi T.

Mol Biol Evol. 2008 Dec;25(12):2601-13. doi: 10.1093/molbev/msn202. Epub 2008 Sep 12.

PMID:
18791038
7.

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H.

Hum Genet. 2006 Sep;120(2):270-84. Epub 2006 Jul 13.

PMID:
16838144
8.

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP.

Hum Mutat. 2008 Mar;29(3):398-408.

PMID:
18058796
9.

A copy number variation in human NCF1 and its pseudogenes.

Brunson T, Wang Q, Chambers I, Song Q.

BMC Genet. 2010 Feb 23;11:13. doi: 10.1186/1471-2156-11-13.

10.

Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6.

Arányi T, Ratajewski M, Bardóczy V, Pulaski L, Bors A, Tordai A, Váradi A.

J Biol Chem. 2005 May 13;280(19):18643-50. Epub 2005 Mar 9.

11.

The database of chromosome imbalance regions and genes resided in lung cancer from Asian and Caucasian identified by array-comparative genomic hybridization.

Lo FY, Chang JW, Chang IS, Chen YJ, Hsu HS, Huang SF, Tsai FY, Jiang SS, Kanteti R, Nandi S, Salgia R, Wang YC.

BMC Cancer. 2012 Jun 12;12:235. doi: 10.1186/1471-2407-12-235.

12.

Sequence variation within the KIV-2 copy number polymorphism of the human LPA gene in African, Asian, and European populations.

Noureen A, Fresser F, Utermann G, Schmidt K.

PLoS One. 2015 Mar 30;10(3):e0121582. doi: 10.1371/journal.pone.0121582. eCollection 2015.

13.

SgD-CNV, a database for common and rare copy number variants in three Asian populations.

Xu H, Poh WT, Sim X, Ong RT, Suo C, Tay WT, Khor CC, Seielstad M, Liu J, Aung T, Tai ES, Wong TY, Chia KS, Teo YY.

Hum Mutat. 2011 Dec;32(12):1341-9. doi: 10.1002/humu.21601. Epub 2011 Sep 30.

PMID:
21882294
14.

ABCC6 gene polymorphism associated with variation in plasma lipoproteins.

Wang J, Near S, Young K, Connelly PW, Hegele RA.

J Hum Genet. 2001;46(12):699-705.

PMID:
11776382
15.

Human SULT1A1 gene: copy number differences and functional implications.

Hebbring SJ, Adjei AA, Baer JL, Jenkins GD, Zhang J, Cunningham JM, Schaid DJ, Weinshilboum RM, Thibodeau SN.

Hum Mol Genet. 2007 Mar 1;16(5):463-70. Epub 2006 Dec 22.

PMID:
17189289
16.

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.

Ghahramani Seno MM, Kwan BY, Lee-Ng KK, Moessner R, Lionel AC, Marshall CR, Scherer SW.

BMC Med Genet. 2011 Mar 26;12:45. doi: 10.1186/1471-2350-12-45.

17.

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA.

Eur J Hum Genet. 2003 Mar;11(3):215-24.

18.

Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms.

Ratajewski M, de Boussac H, Pulaski L.

Biochem Biophys Res Commun. 2009 May 22;383(1):73-7. doi: 10.1016/j.bbrc.2009.03.131. Epub 2009 Mar 31.

PMID:
19341707
19.

A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.

Yang J, Yang Y, Huang Y, Hu Y, Chen X, Sun H, Lv Z, Cheng Q, Bao L.

BMC Med Genet. 2013 Jan 15;14:9. doi: 10.1186/1471-2350-14-9.

20.

Comparison of a quantitative Real-Time PCR assay and droplet digital PCR for copy number analysis of the CCL4L genes.

Bharuthram A, Paximadis M, Picton AC, Tiemessen CT.

Infect Genet Evol. 2014 Jul;25:28-35. doi: 10.1016/j.meegid.2014.03.028. Epub 2014 Apr 12.

PMID:
24727646

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