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Items: 1 to 20 of 93


Identification of functional haplotypes in the promoter region of the LST1 gene.

Woo J, Lee C.

Biochem Genet. 2014 Aug;52(7-8):365-71. doi: 10.1007/s10528-014-9653-x. Epub 2014 May 7.


Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene.

Ryoo H, Kong M, Kim Y, Lee C.

J Hum Genet. 2013 Sep;58(9):600-3. doi: 10.1038/jhg.2013.62. Epub 2013 May 30.


Identification and functional analysis of variant haplotypes in the 5'-flanking region of protein phosphatase 2A-Bδ gene.

Chen HF, Lin LN, Chen YX, Wan JX, Luo J, Zhang CZ, Li XJ, Hu YM, Mai JR, Chen W, Lin ZN, Lin YC.

PLoS One. 2012;7(4):e35524. doi: 10.1371/journal.pone.0035524. Epub 2012 Apr 23.


Tau haplotypes regulate transcription and are associated with Parkinson's disease.

Kwok JB, Teber ET, Loy C, Hallupp M, Nicholson G, Mellick GD, Buchanan DD, Silburn PA, Schofield PR.

Ann Neurol. 2004 Mar;55(3):329-34.


Identification and functional analyses of polymorphism haplotypes of protein phosphatase 2A-Aα gene promoter.

Lin YC, Chen HF, Lin LN, Luo J, Li W, Zhang SJ, Li XJ, Hu YM, Chen YX, Chen W, Lin ZN.

Mutat Res. 2011 Nov 1;716(1-2):66-75. doi: 10.1016/j.mrfmmm.2011.08.004. Epub 2011 Aug 26.


Identification and Functional Characterization of Novel Genetic Variations in the OCTN1 Promoter.

Park HJ, Choi JH.

Korean J Physiol Pharmacol. 2014 Apr;18(2):169-75. doi: 10.4196/kjpp.2014.18.2.169. Epub 2014 Apr 3.


Functional characterisation of the bovine neuropeptide Y gene promoter and evaluation of the transcriptional activities of promoter haplotypes.

Alam T, Bahar B, Waters SM, McGee M, O'Doherty JV, Sweeney T.

Mol Biol Rep. 2012 Feb;39(2):919-28. doi: 10.1007/s11033-011-0817-z. Epub 2011 May 12.


Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.

Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN.

Hum Mutat. 2003 Apr;21(4):408-23.


Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, Antiñolo G, Borrego S, Eng C.

J Med Genet. 2005 Apr;42(4):322-7. Erratum in: J Med Genet. 2005 Jun;42(6):502.


The XRCC1 -77T->C variant: haplotypes, breast cancer risk, response to radiotherapy and the cellular response to DNA damage.

Brem R, Cox DG, Chapot B, Moullan N, Romestaing P, Gérard JP, Pisani P, Hall J.

Carcinogenesis. 2006 Dec;27(12):2469-74. Epub 2006 Jul 8.


Functional variants in the thromboxane A2 receptor gene are associated with lung function in childhood-onset asthma.

Takeuchi K, Mashimo Y, Shimojo N, Arima T, Inoue Y, Morita Y, Sato K, Suzuki S, Nishimuta T, Watanabe H, Hoshioka A, Tomiita M, Yamaide A, Watanabe M, Okamoto Y, Kohno Y, Hata A, Suzuki Y.

Clin Exp Allergy. 2013 Apr;43(4):413-24. doi: 10.1111/cea.12058.


Single nucleotide polymorphisms of the angiotensin-converting enzyme (ACE) gene are associated with essential hypertension and increased ACE enzyme levels in Mexican individuals.

Martínez-Rodríguez N, Posadas-Romero C, Villarreal-Molina T, Vallejo M, Del-Valle-Mondragón L, Ramírez-Bello J, Valladares A, Cruz-López M, Vargas-Alarcón G.

PLoS One. 2013 May 31;8(5):e65700. doi: 10.1371/journal.pone.0065700. Print 2013.


HLA-DRB1 may be antagonistically regulated by the coordinately evolved promoter and 3'-UTR under stabilizing selection.

Liu B, Fu Y, Wang Z, Zhou S, Sun Y, Wu Y, Xu A.

PLoS One. 2011;6(10):e25794. doi: 10.1371/journal.pone.0025794. Epub 2011 Oct 18.


In vitro and ex vivo analysis of CHRNA3 and CHRNA5 haplotype expression.

Doyle GA, Wang MJ, Chou AD, Oleynick JU, Arnold SE, Buono RJ, Ferraro TN, Berrettini WH.

PLoS One. 2011;6(8):e23373. doi: 10.1371/journal.pone.0023373. Epub 2011 Aug 12.


Polymorphisms in the osteopontin promoter affect its transcriptional activity.

Giacopelli F, Marciano R, Pistorio A, Catarsi P, Canini S, Karsenty G, Ravazzolo R.

Physiol Genomics. 2004 Dec 15;20(1):87-96. Epub 2004 Oct 12.


Identification of a type 1 diabetes-associated CD4 promoter haplotype with high constitutive activity.

Kristiansen OP, Karlsen AE, Larsen ZM, Johannesen J, Pociot F, Mandrup-Poulsen T; Danish IDDM Epidemiology and Genetics Group and Danish Study Group of IDDM in Childhood.

Scand J Immunol. 2004 Jun;59(6):582-91.


PLCz functional haplotypes modulating promoter transcriptional activity are associated with semen quality traits in Chinese Holstein bulls.

Pan Q, Ju Z, Huang J, Zhang Y, Qi C, Gao Q, Zhou L, Li Q, Wang L, Zhong J, Liu M, Wang C.

PLoS One. 2013;8(3):e58795. doi: 10.1371/journal.pone.0058795. Epub 2013 Mar 15.


Angiotensinogen promoter B-haplotype associated with cerebral small vessel disease enhances basal transcriptional activity.

Schmidt H, Aulchenko YS, Schweighofer N, Schmidt R, Frank S, Kostner GM, Ott E, van Duijn C.

Stroke. 2004 Nov;35(11):2592-7. Epub 2004 Oct 7.


Functionally significant nicotine acetylcholine receptor subunit α5 promoter haplotypes are associated with susceptibility to lung cancer in Chinese.

Zheng X, Duan W, Xu J, Nie C, Yang Z, Wang H, Wang W, Lu D.

Cancer. 2011 Oct 15;117(20):4714-23. doi: 10.1002/cncr.26017. Epub 2011 Mar 29.

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