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Items: 1 to 20 of 230

1.

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome.

Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M.

Am J Med Genet A. 2017 Oct;173(10):2847-2850. doi: 10.1002/ajmg.a.38419. Epub 2017 Aug 16. No abstract available.

PMID:
28816024
2.

Placental Expressions of CDKN1C and KCNQ1OT1 in Monozygotic Twins with Selective Intrauterine Growth Restriction.

Gou C, Liu X, Shi X, Chai H, He ZM, Huang X, Fang Q.

Twin Res Hum Genet. 2017 Aug 14:1-6. doi: 10.1017/thg.2017.41. [Epub ahead of print]

PMID:
28803575
3.

Down-regulation of lncRNA KCNQ1OT1 protects against myocardial ischemia/reperfusion injury following acute myocardial infarction.

Li X, Dai Y, Yan S, Shi Y, Han B, Li J, Cha L, Mu J.

Biochem Biophys Res Commun. 2017 Sep 30;491(4):1026-1033. doi: 10.1016/j.bbrc.2017.08.005. Epub 2017 Aug 2.

PMID:
28780351
4.

Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.

Coto E, Calvo D, Reguero JR, Morís C, Rubín JM, Díaz-Corte C, Gil-Peña H, Alosno B, Iglesias S, Gómez J.

Epigenomics. 2017 Aug;9(8):1049-1057. doi: 10.2217/epi-2017-0024. Epub 2017 Jul 27.

PMID:
28749187
5.

Endurance Exercise Ability in the Horse: A Trait with Complex Polygenic Determinism.

Ricard A, Robert C, Blouin C, Baste F, Torquet G, Morgenthaler C, Rivière J, Mach N, Mata X, Schibler L, Barrey E.

Front Genet. 2017 Jun 28;8:89. doi: 10.3389/fgene.2017.00089. eCollection 2017.

6.

Conservation of Repeats at the Mammalian KCNQ1OT1-CDKN1C Region Suggests a Role in Genomic Imprinting.

De Donato M, Hussain T, Rodulfo H, Peters SO, Imumorin IG, Thomas BN.

Evol Bioinform Online. 2017 Jun 16;13:1176934317715238. doi: 10.1177/1176934317715238. eCollection 2017.

7.

Knockdown of long non-coding RNA KCNQ1OT1 depressed chemoresistance to paclitaxel in lung adenocarcinoma.

Ren K, Xu R, Huang J, Zhao J, Shi W.

Cancer Chemother Pharmacol. 2017 Aug;80(2):243-250. doi: 10.1007/s00280-017-3356-z. Epub 2017 Jun 9.

PMID:
28600629
8.

Long Non-Coding RNA KCNQ1OT1 Promotes Cataractogenesis via miR-214 and Activation of the Caspase-1 Pathway.

Jin X, Jin H, Shi Y, Guo Y, Zhang H.

Cell Physiol Biochem. 2017;42(1):295-305. doi: 10.1159/000477330. Epub 2017 May 25.

9.

Intergenerational impact of paternal lifetime exposures to both folic acid deficiency and supplementation on reproductive outcomes and imprinted gene methylation.

Ly L, Chan D, Aarabi M, Landry M, Behan NA, MacFarlane AJ, Trasler J.

Mol Hum Reprod. 2017 Jul 1;23(7):461-477. doi: 10.1093/molehr/gax029.

PMID:
28535307
10.

Imprinted disorders and growth.

Giabicani É, Brioude F, Le Bouc Y, Netchine I.

Ann Endocrinol (Paris). 2017 Jun;78(2):112-113. doi: 10.1016/j.ando.2017.04.010. Epub 2017 May 4.

PMID:
28478949
11.

Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome.

Singh VB, Sribenja S, Wilson KE, Attwood KM, Hillman JC, Pathak S, Higgins MJ.

Development. 2017 May 15;144(10):1820-1830. doi: 10.1242/dev.145136. Epub 2017 Apr 20.

PMID:
28428215
12.

Knockdown of Long Non-Coding RNA KCNQ1OT1 Restrained Glioma Cells' Malignancy by Activating miR-370/CCNE2 Axis.

Gong W, Zheng J, Liu X, Liu Y, Guo J, Gao Y, Tao W, Chen J, Li Z, Ma J, Xue Y.

Front Cell Neurosci. 2017 Mar 22;11:84. doi: 10.3389/fncel.2017.00084. eCollection 2017.

13.

The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

Duffy KA, Deardorff MA, Kalish JM.

Am J Med Genet A. 2017 Mar;173(3):581-584. doi: 10.1002/ajmg.a.38068. Epub 2017 Feb 4.

PMID:
28160403
14.

Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.

Brioude F, Nicolas C, Marey I, Gaillard S, Bernier M, Das Neves C, Le Bouc Y, Touraine P, Netchine I.

Horm Res Paediatr. 2016;86(3):206-211. Epub 2016 Jun 3.

PMID:
27255538
15.

A cross-talk between DNA methylation and H3 lysine 9 dimethylation at the KvDMR1 region controls the induction of Cdkn1c in muscle cells.

Andresini O, Ciotti A, Rossi MN, Battistelli C, Carbone M, Maione R.

Epigenetics. 2016 Nov;11(11):791-803. Epub 2016 Sep 9.

16.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium, Monk D, Lapunzina P.

Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2.

PMID:
27480579
17.

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP.

Mol Genet Metab. 2016 Sep;119(1-2):8-13. doi: 10.1016/j.ymgme.2016.07.003. Epub 2016 Jul 12.

PMID:
27436784
18.

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC.

Am J Med Genet A. 2016 Sep;170(9):2248-60. doi: 10.1002/ajmg.a.37801. Epub 2016 Jul 15.

PMID:
27419809
19.

Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.

Piersigilli F, Auriti C, Mondì V, Francalanci P, Salvatori G, Danhaive O.

Indian J Pediatr. 2016 Nov;83(12-13):1476-1478. doi: 10.1007/s12098-016-2187-y. Epub 2016 Jun 27.

PMID:
27345568
20.

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F.

Clin Epigenetics. 2016 Jun 16;8:69. doi: 10.1186/s13148-016-0236-z. eCollection 2016.

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