PMC Links for Nucleotide (Select 1519246360) - PMC - NCBI

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Items: 11

Select item 67412671.

Connexins Are Critical for Normal Myelination in the CNS

Daniela M. Menichella, Daniel A. Goodenough, Erich Sirkowski, Steven S. Scherer, David L. Paul

J Neurosci. 2003 Jul 2; 23(13): 5963–5973. doi: 10.1523/JNEUROSCI.23-13-05963.2003

PMCID:: PMC6741267

Abstract Article PDF–1.3M

Select item 67408162.

Connexin 47 (Cx47)-Deficient Mice with Enhanced Green Fluorescent Protein Reporter Gene Reveal Predominant Oligodendrocytic Expression of Cx47 and Display Vacuolized Myelin in the CNS

Benjamin Odermatt, Kerstin Wellershaus, Anke Wallraff, Gerald Seifert, Joachim Degen, Carsten Euwens, Babette Fuss, Heinrich Büssow, Karl Schilling, Christian Steinhäuser, Klaus Willecke

J Neurosci. 2003 Jun 1; 23(11): 4549–4559. doi: 10.1523/JNEUROSCI.23-11-04549.2003

PMCID:: PMC6740816

Abstract Article PDF–1.0M

Select item 55515653.

Human venous valve disease caused by mutations in FOXC2 and GJC2

Oliver Lyons, Prakash Saha, Christopher Seet, Adam Kuchta, Andrew Arnold, Steven Grover, Victoria Rashbrook, Amélie Sabine, Gema Vizcay-Barrena, Ash Patel, Francesca Ludwinski, Soundrie Padayachee, Tsutomu Kume, Brenda R. Kwak, Glen Brice, Sahar Mansour, Pia Ostergaard, Peter Mortimer, Steve Jeffery, Nigel Brown, Taija Makinen, Tatiana V. Petrova, Bijan Modarai, Alberto Smith

J Exp Med. 2017 Aug 7; 214(8): 2437–2452. doi: 10.1084/jem.20160875

PMCID:: PMC5551565

Abstract Article PDF–3.1M

Select item 41833654.

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, Adeline Vanderver

Mol Genet Metab. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Mol Genet Metab. 2014 Mar; 111(3): 393–398. Published online 2013 Dec 16. doi: 10.1016/j.ymgme.2013.12.001

Correction in:: Mol Genet Metab. 2016 Nov; 119(3): 293.

PMCID:: PMC4183365

Abstract Article PDF–688K

Select item 12160595.

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M. Kaindl, Marco Henneke, Holger Thiele, Gisela Stoltenburg-Didinger, Fuat Aksu, Haluk Topaloğlu, Peter Nürnberg, Christoph Hübner, Bernhard Weschke, Jutta Gärtner

Am J Hum Genet. 2004 Aug; 75(2): 251–260. Published online 2004 Jun 10. doi: 10.1086/422763

Correction in:: Am J Hum Genet. 2004 Oct; 75(4): 737.

PMCID:: PMC1216059

Abstract Article PDF–652K

Select item 50787866.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng

Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936

PMCID:: PMC5078786

Abstract Article PDF–661K

Select item 46889557.

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden

Eur J Hum Genet. 2016 Jun; 24(6): 857–863. Published online 2015 Sep 16. doi: 10.1038/ejhg.2015.200

PMCID:: PMC4688955

Abstract Article PDF–859K

Select item 40576098.

Stability of gene expression and epigenetic profiles highlights the utility of patient-derived paediatric acute lymphoblastic leukaemia xenografts for investigating molecular mechanisms of drug resistance

Nicholas C Wong, Vivek A Bhadri, Jovana Maksimovic, Mandy Parkinson-Bates, Jane Ng, Jeff M Craig, Richard Saffery, Richard B Lock

BMC Genomics. 2014; 15(1): 416. Published online 2014 Jun 1. doi: 10.1186/1471-2164-15-416

PMCID:: PMC4057609

Abstract Article PDF–834K

Select item 29561709.

Low Connexin Channel-Dependent Intercellular Communication in Human Adult Hematopoietic Progenitor/Stem Cells: Probing Mechanisms of Autologous Stem Cell Therapy

Jian Yang, Richard L Darley, Maurice Hallett, W Howard Evans

Cell Commun Adhes. 2009 Dec; 16(5): 138–145. Published online 2010 Mar 19. doi: 10.3109/15419061003653763

PMCID:: PMC2956170

Abstract Article PDF–956K

Select item 279100010.

Syndecan-2 Functions as a Docking Receptor for Pro-matrix Metalloproteinase-7 in Human Colon Cancer Cells

Heui-Young Ryu, Jiseon Lee, Sanghwa Yang, Haein Park, Sojoong Choi, Kyeong-Cheon Jung, Seung-Taek Lee, Je-Kyung Seong, Inn-Oc Han, Eok-Soo Oh

J Biol Chem. 2009 Dec 18; 284(51): 35692–35701. Published online 2009 Oct 26. doi: 10.1074/jbc.M109.054254

PMCID:: PMC2791000

Abstract Article PDF–1.7M

Select item 193703811.

Loss-of-function connexin47 mutations cause Pelizaeus-Merzbacher-like disease

Jennifer L. Orthmann-Murphy, Alan D. Enriquez, Charles K. Abrams, Steven S. Scherer

Mol Cell Neurosci. Author manuscript; available in PMC 2007 Aug 2.

Published in final edited form as: Mol Cell Neurosci. 2007 Apr; 34(4): 629–641. Published online 2007 Jan 25. doi: 10.1016/j.mcn.2007.01.010

PMCID:: PMC1937038

Abstract Article PDF–1.5M

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PMC Links for Nucleotide (Select 1519246360) (11)
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Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), ...
Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 5, mRNA
gi|1005261223|ref|NM_001321019.1|

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