PMC Links for GEO Profiles (Select 132355059) - PMC

Select item 105832651.

LACK OF EMBRYONIC HOMOZYGOUS OR ADULT HETEROZYGOUS LYMPHATIC PHENOTYPES FOR A Sos1 MUTATION AND LACK OF LYMPHATIC EMBRYONIC PHENOTYPES FOR A HOMOZYGOUS Cx47 MUTATION IN MICE

X. Geng, L. Chen, R.S. Srinivasan, R.J. Kylat, M.H. Witte, R.P. Erickson

Lymphology. Author manuscript; available in PMC 2023 Oct 18.

Published in final edited form as: Lymphology. 2022; 55(3): 129–134.

PMCID:: PMC10583265

Abstract Article PDF–1.5M

Select item 101358712.

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47

Charles K. Abrams

Biomolecules. 2023 Apr; 13(4): 712. Published online 2023 Apr 21. doi: 10.3390/biom13040712

PMCID:: PMC10135871

Abstract Article PDF–3.4M

Select item 75668813.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 70911714.

Connexin 43/47 channels are important for astrocyte/oligodendrocyte cross-talk in myelination and demyelination

Rahul Basu, Jayasri Das Sarma

J Biosci. 2018; 43(5): 1055–1068. Published online 2018 Oct 4. doi: 10.1007/s12038-018-9811-0

PMCID:: PMC7091171

Abstract Article PDF–1.2M

Select item 67412675.

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 67408166.

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 55515657.

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 53717308.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 41833659.

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 362566510.

Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment

David N. Finegold, Catherine J. Baty, Kelly Z. Knickelbein, Shelley Perschke, Sarah E. Noon, Diana Campbell, Jenny M. Karlsson, Diana Huang, Mark A. Kimak, Elizabeth C. Lawrence, Eleanor Feingold, Stephen D. Meriney, Adam M. Brufsky, Robert E. Ferrell

Clin Cancer Res. Author manuscript; available in PMC 2013 Apr 15.

Published in final edited form as: Clin Cancer Res. 2012 Apr 15; 18(8): 2382–2390. Published online 2012 Feb 20. doi: 10.1158/1078-0432.CCR-11-2303

PMCID:: PMC3625665

Abstract Article PDF–788K

Select item 353325911.

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

Roberta Biancheri, Camillo Rosano, Laura Denegri, Eleonora Lamantea, Francesca Pinto, Federica Lanza, Mariasavina Severino, Mirella Filocamo

Eur J Hum Genet. 2013 Jan; 21(1): 34–39. Published online 2012 Jun 6. doi: 10.1038/ejhg.2012.93

PMCID:: PMC3533259

Abstract Article PDF–1.0M

Select item 338198512.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Birdal Bilir, Zuhal Yapici, Cengiz Yalcinkaya, Ibrahim Baris, Claudia M. B. Carvalho, Magdalena Bartnik, Burcak Ozes, Mefkure Eraksoy, James R. Lupski, Esra Battaloglu

Clin Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Clin Genet. 2013 Jan; 83(1): 66–72. Published online 2012 Feb 20. doi: 10.1111/j.1399-0004.2012.01846.x

PMCID:: PMC3381985

Article PDF–589K

Select item 317805913.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 303206414.

GJC2 Missense Mutations Cause Human Lymphedema

Robert E. Ferrell, Catherine J. Baty, Mark A. Kimak, Jenny M. Karlsson, Elizabeth C. Lawrence, Marlise Franke-Snyder, Stephen D. Meriney, Eleanor Feingold, David N. Finegold

Am J Hum Genet. 2010 Jun 11; 86(6): 943–948. doi: 10.1016/j.ajhg.2010.04.010

PMCID:: PMC3032064

Abstract Article PDF–1.0M

Select item 264021615.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Jennifer L. Orthmann-Murphy, Ettore Salsano, Charles K. Abrams, Alberto Bizzi, Graziella Uziel, Mona M. Freidin, Eleonora Lamantea, Massimo Zeviani, Steven S. Scherer, Davide Pareyson

Brain. 2009 Feb; 132(2): 426–438. Published online 2008 Dec 4. doi: 10.1093/brain/awn328

PMCID:: PMC2640216

Abstract Article PDF–894K

Select item 193703816.

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

Select item 121605917.

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