PMC Links for Nucleotide (Select 1519245532) - PMC

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Items: 12

Select item 63495331.

A NOVEL CASE OF GREENBERG DYSPLASIA AND GENOTYPE-PHENOTYPE CORRELATION ANALYSIS FOR LBR PATHOGENIC VARIANTS: AN INSTRUCTIVE EXAMPLE OF ONE GENE-MULTIPLE PHENOTYPES.

Elisa Giorgio, Fabio Sirchia, Martino Bosco, Nara Lygia M. Sobreira, Baylor-Hopkins Center for Mendelian Genomics, Enrico Grosso, Alessandro Brussino, Alfredo Brusco

Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Am J Med Genet A. 2019 Feb; 179(2): 306–311. Published online 2018 Dec 18. doi: 10.1002/ajmg.a.61000

PMCID:: PMC6349533

Abstract Article PDF–848K

Select item 63280902.

A common pathomechanism in GMAP-210– and LBR-related diseases

Anika Wehrle, Tomasz M. Witkos, Judith C. Schneider, Anselm Hoppmann, Sidney Behringer, Anna Köttgen, Mariet Elting, Jürgen Spranger, Martin Lowe, Ekkehart Lausch

JCI Insight. 2018 Dec 6; 3(23): e121150. Published online 2018 Dec 6. doi: 10.1172/jci.insight.121150

PMCID:: PMC6328090

Abstract Article PDF–9.1M

Select item 21197263.

The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal

J Cell Biol. 1993 Mar 1; 120(5): 1093–1100. doi: 10.1083/jcb.120.5.1093

PMCID:: PMC2119726

Summary PDF–1.5M

Select item 2824924.

A lamin B receptor in the nuclear envelope.

H J Worman, J Yuan, G Blobel, S D Georgatos

Proc Natl Acad Sci U S A. 1988 Nov; 85(22): 8531–8534. doi: 10.1073/pnas.85.22.8531

PMCID:: PMC282492

Summary Page Browse PDF–1.0M

Select item 59029775.

Three-dimensional imaging reveals endo(sarco)plasmic reticulum-containing invaginations within the nucleoplasm of muscle

Shin-Haw Lee, Sina Hadipour-Lakmehsari, Tetsuaki Miyake, Anthony O. Gramolini

Am J Physiol Cell Physiol. 2018 Mar 1; 314(3): C257–C267. Published online 2017 Nov 22. doi: 10.1152/ajpcell.00141.2017

PMCID:: PMC5902977

Abstract Article

Select item 49354566.

Altered expression of mir-222 and mir-25 influences diverse gene expression changes in transformed normal and anaplastic thyroid cells, and impacts on MEK and TRAIL protein expression

Sinéad T. Aherne, Paul Smyth, Michael Freeley, Leila Smith, Cathy Spillane, John O'leary, Orla Sheils

Int J Mol Med. 2016 Aug; 38(2): 433–445. Published online 2016 Jun 22. doi: 10.3892/ijmm.2016.2653

PMCID:: PMC4935456

Abstract Article PDF–864K

Select item 43421837.

Hsa-microRNA-181a is a regulator of a number of cancer genes and a biomarker for endometrial carcinoma in patients: a bioinformatic and clinical study and the therapeutic implication

Shuming He, Shumei Zeng, Zhi-Wei Zhou, Zhi-Xu He, Shu-Feng Zhou

Drug Des Devel Ther. 2015; 9: 1103–1175. Published online 2015 Feb 18. doi: 10.2147/DDDT.S73551

PMCID:: PMC4342183

Abstract Article PDF–16M

Select item 40071798.

Molecular mechanisms underlying the cholesterol-lowering effect of Ginkgo biloba extract in hepatocytes: a comparative study with lovastatin

Zuo-quan Xie, Gai Liang, Lu Zhang, Qi Wang, Yi Qu, Yang Gao, Li-bo Lin, Sai Ye, Ji Zhang, Hui Wang, Guo-ping Zhao, Qing-hua Zhang

Acta Pharmacol Sin. 2009 Sep; 30(9): 1262–1275. Published online 2009 Aug 24. doi: 10.1038/aps.2009.126

PMCID:: PMC4007179

Abstract Article PDF–2.0M

Select item 30270549.

An in vitro model for Pelger-Huët anomaly: Stable knockdown of lamin B receptor in HL-60 cells

Ada L Olins, Aurélie Ernst, Monika Zwerger, Harald Herrmann, Donald E Olins

Nucleus. 2010 Nov-Dec; 1(6): 506–512. Published online 2010 Aug 6. doi: 10.4161/nucl.1.6.13271

PMCID:: PMC3027054

Abstract Article PDF–26M

Select item 291594910.

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

Vincenza Barresi, Angela Ragusa, Marco Fichera, Nicolò Musso, Lucia Castiglia, Giancarlo Rappazzo, Salvatore Travali, Teresa Mattina, Corrado Romano, Guido Cocchi, Daniele F Condorelli

BMC Med Genomics. 2010; 3: 28. Published online 2010 Jul 6. doi: 10.1186/1755-8794-3-28

PMCID:: PMC2915949

Abstract Article PDF–620K

Select item 177111411.

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins

Antoine Muchir, Catherine Massart, Baziel G. van Engelen, Martin Lammens, Gisèle Bonne, Howard J. Worman

Biochem Biophys Res Commun. Author manuscript; available in PMC 2007 Jan 17.

Published in final edited form as: Biochem Biophys Res Commun. 2006 Dec 29; 351(4): 1011–1017. Published online 2006 Nov 3. doi: 10.1016/j.bbrc.2006.10.147

PMCID:: PMC1771114

Abstract Article PDF–478K

Select item 138023712.

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Seema R. Lalani, Arsalan M. Safiullah, Susan D. Fernbach, Karine G. Harutyunyan, Christina Thaller, Leif E. Peterson, John D. McPherson, Richard A. Gibbs, Lisa D. White, Margaret Hefner, Sandra L. H. Davenport, John M. Graham, Carlos A. Bacino, Nancy L. Glass, Jeffrey A. Towbin, William J. Craigen, Steven R. Neish, Angela E. Lin, John W. Belmont

Am J Hum Genet. 2006 Feb; 78(2): 303–314. Published online 2005 Dec 29. doi: 10.1086/500273