PMC Links for Nucleotide (Select 1519245997) - PMC

Select item 45814781.

Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection

Manuela Sironi, Mara Biasin, Chiara Pontremoli, Rachele Cagliani, Irma Saulle, Daria Trabattoni, Francesca Vichi, Sergio Lo Caputo, Francesco Mazzotta, Wbeimar Aguilar-Jimenez, Maria Teresa Rugeles, Samandhy Cedeno, Jorge Sanchez, Christian Brander, Mario Clerici

Retrovirology. 2015; 12: 80. Published online 2015 Sep 24. doi: 10.1186/s12977-015-0206-0

PMCID:: PMC4581478

Abstract Article PDF–847K

Select item 5091172.

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

K D Setchell, M Schwarz, N C O'Connell, E G Lund, D L Davis, R Lathe, H R Thompson, R Weslie Tyson, R J Sokol, D W Russell

J Clin Invest. 1998 Nov 1; 102(9): 1690–1703. doi: 10.1172/JCI2962

PMCID:: PMC509117

Summary PDF–595K

Select item 62891253.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli

Front Neurol. 2018; 9: 981. Published online 2018 Dec 4. doi: 10.3389/fneur.2018.00981

PMCID:: PMC6289125

Abstract Article PDF–1.2M

Select item 58852594.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr

JAMA Neurol. 2018 May; 75(5): 591–599. Published online 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121

PMCID:: PMC5885259

Abstract Article

Select item 46786615.

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder

BMC Res Notes. 2015; 8: 785. Published online 2015 Dec 15. doi: 10.1186/s13104-015-1783-7

PMCID:: PMC4678661

Abstract Article PDF–1.4M

Select item 45182206.

7α-Hydroxypregnenolone, a key neuronal modulator of locomotion, stimulates upstream migration by means of the dopaminergic system in salmon

Shogo Haraguchi, Yuzo Yamamoto, Yuko Suzuki, Joon Hyung Chang, Teppei Koyama, Miku Sato, Masatoshi Mita, Hiroshi Ueda, Kazuyoshi Tsutsui

Sci Rep. 2015; 5: 12546. Published online 2015 Jul 29. doi: 10.1038/srep12546

PMCID:: PMC4518220

Abstract Article PDF–1.6M

Select item 43632867.

Extra-hepatic metabolism of 7-ketocholesterol occurs by esterification to fatty acids via cPLA2α and SOAT1 followed by selective efflux to HDL

Jung Wha Lee, Jiahn-Dar Huang, Ignacio R. Rodriguez

Biochim Biophys Acta. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: Biochim Biophys Acta. 2015 May; 1851(5): 605–619. Published online 2015 Jan 22. doi: 10.1016/j.bbalip.2015.01.007

PMCID:: PMC4363286

Abstract Article PDF–7.0M

Select item 36615348.

Transcriptome Analysis Reveals New Insights into the Modulation of Endometrial Stromal Cell Receptive Phenotype by Embryo-Derived Signals Interleukin-1 and Human Chorionic Gonadotropin: Possible Involvement in Early Embryo Implantation

Amélie Bourdiec, Ezequiel Calvo, C. V. Rao, Ali Akoum

PLoS One. 2013; 8(5): e64829. Published online 2013 May 22. doi: 10.1371/journal.pone.0064829

PMCID:: PMC3661534

Abstract Article PDF–864K

Select item 30225939.

Different responses to oxidized low-density lipoproteins in human polarized macrophages

Kuniaki Hirose, Kazuhisa Iwabuchi, Kazunori Shimada, Takashi Kiyanagi, Chihiro Iwahara, Hitoshi Nakayama, Hiroyuki Daida

Lipids Health Dis. 2011; 10: 1. Published online 2011 Jan 4. doi: 10.1186/1476-511X-10-1

PMCID:: PMC3022593

Abstract Article PDF–1.9M

Select item 242691410.

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Maria K. Tsaousidou, Karim Ouahchi, Tom T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, Ricardo E. Madrid, Heema Patel, Faycal Hentati, Michael A. Patton, Afif Hentati, Philippa J. Lamont, Teepu Siddique, Andrew H. Crosby

Am J Hum Genet. 2008 Feb 8; 82(2): 510–515. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.001

PMCID:: PMC2426914

Abstract Article PDF–488K

Select item 189541811.

Differential gene expression, GATA1 target genes, and the chemotherapy sensitivity of Down syndrome megakaryocytic leukemia

Yubin Ge, Alan A. Dombkowski, Katherine M. LaFiura, Dana Tatman, Ravikiran S. Yedidi, Mark L. Stout, Steven A. Buck, Gita Massey, David L. Becton, Howard J. Weinstein, Yaddanapudi Ravindranath, Larry H. Matherly, Jeffrey W. Taub

Blood. 2006 Feb 15; 107(4): 1570–1581. Prepublished online 2005 Oct 25. doi: 10.1182/blood-2005-06-2219

PMCID:: PMC1895418

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