U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 81

1.
TMEM43 Mutation p.S358L Alters Intercalated Disc Protein Expression and Reduces Conduction Velocity in Arrhythmogenic Right Ventricular Cardiomyopathy
Vinayakumar Siragam, Xuezhi Cui, Stephane Masse, Cameron Ackerley, Shabana Aafaqi, Linn Strandberg, Michael Tropak, Michael D. Fridman, Kumaraswamy Nanthakumar, Jun Liu, Yu Sun, Bin Su, Caroline Wang, Xiaoru Liu, Yuqing Yan, Ariel Mendlowitz, Robert M. Hamilton
PLoS One. 2014; 9(10): e109128. Published online 2014 Oct 24. doi: 10.1371/journal.pone.0109128
PMCID:
PMC4208740
AbstractArticlePDF–1.8M
2.
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad
BMC Med Genet. 2012; 13: 21. Published online 2012 Mar 29. doi: 10.1186/1471-2350-13-21
PMCID:
PMC3352248
AbstractArticlePDF–497K
3.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
Minwoo Wendy Jang, Doo-Yi Oh, Eunyoung Yi, Xuezhong Liu, Jie Ling, Nayoung Kim, Kushal Sharma, Tai Young Kim, Seungmin Lee, Ah-Reum Kim, Min Young Kim, Min-A Kim, Mingyu Lee, Jin-Hee Han, Jae Joon Han, Hye-Rim Park, Bong Jik Kim, Sang-Yeon Lee, Dong Ho Woo, Jayoung Oh, Soo-Jin Oh, Tingting Du, Ja-Won Koo, Seung-Ha Oh, Hyun-Woo Shin, Moon-Woo Seong, Kyu-Yup Lee, Un-Kyung Kim, Jung Bum Shin, Shushan Sang, Xinzhang Cai, Lingyun Mei, Chufeng He, Susan H. Blanton, Zheng-Yi Chen, Hongsheng Chen, Xianlin Liu, Aida Nourbakhsh, Zaohua Huang, Kwon-Woo Kang, Woong-Yang Park, Yong Feng, C. Justin Lee, Byung Yoon Choi
Proc Natl Acad Sci U S A. 2021 Jun 1; 118(22): e2019681118. Published online 2021 May 28. doi: 10.1073/pnas.2019681118
PMCID:
PMC8179140
AbstractArticlePDF–5.1M
4.
Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
Nancy D. Merner, Kathy A. Hodgkinson, Annika F.M. Haywood, Sean Connors, Vanessa M. French, Jörg-Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry-Lynn Young
Am J Hum Genet. 2008 Apr 11; 82(4): 809–821. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.010
PMCID:
PMC2427209
AbstractArticlePDF–3.0M
5.
The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14
Duanxiang Li, Ferhaan Ahmad, Martin J. Gardner, Donald Weilbaecher, Rita Hill, Akihiko Karibe, Oscar Gonzalez, Terry Tapscott, Geoffrey P. Sharratt, Linda L. Bachinski, Robert Roberts
Am J Hum Genet. 2000 Jan; 66(1): 148–156. Published online 1999 Dec 17. doi: 10.1086/302713
PMCID:
PMC1288320
AbstractArticlePDF–578K
6.
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish
Miriam Zink, Anne Seewald, Mareike Rohrbach, Andreas Brodehl, Daniel Liedtke, Tatjana Williams, Sarah J. Childs, Brenda Gerull
Int J Mol Sci. 2022 Sep; 23(17): 9530. Published online 2022 Aug 23. doi: 10.3390/ijms23179530
PMCID:
PMC9455580
AbstractArticlePDF–2.8M
7.
Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane
Mathias Dreger, Luiza Bengtsson, Torsten Schöneberg, Henning Otto, Ferdinand Hucho
Proc Natl Acad Sci U S A. 2001 Oct 9; 98(21): 11943–11948. Published online 2001 Oct 2. doi: 10.1073/pnas.211201898
PMCID:
PMC59747
AbstractArticlePDF–576K
8.
The envelope protein of severe acute respiratory syndrome coronavirus interacts with the non-structural protein 3 and is ubiquitinated
Enrique Álvarez, Marta L. DeDiego, Jose L. Nieto-Torres, Jose M. Jiménez-Guardeño, Laura Marcos-Villar, Luis Enjuanes
Virology. 2010 Jul 5; 402(2): 281–291. Published online 2010 Apr 20. doi: 10.1016/j.virol.2010.03.015
PMCID:
PMC7119183
AbstractArticlePDF–1.6M
9.
Sequestosome 1 Is Part of the Interaction Network of VAPB
Christina James, Christof Lenz, Henning Urlaub, Ralph H. Kehlenbach
Int J Mol Sci. 2021 Dec; 22(24): 13271. Published online 2021 Dec 9. doi: 10.3390/ijms222413271
PMCID:
PMC8707790
AbstractArticlePDF–56M
10.
Characterization of MRFAP1 Turnover and Interactions Downstream of the NEDD8 Pathway
Mark Larance, Kathryn J. Kirkwood, Dimitris P. Xirodimas, Emma Lundberg, Mathias Uhlen, Angus I. Lamond
Mol Cell Proteomics. 2012 Mar; 11(3): M111.014407. Published online 2011 Oct 29. doi: 10.1074/mcp.M111.014407
PMCID:
PMC3316733
AbstractArticlePDF–2.2M
11.
Comparative multiplexed interactomics of SARS-CoV-2 and homologous coronavirus non-structural proteins identifies unique and shared host-cell dependencies
Jonathan P. Davies, Katherine M. Almasy, Eli F. McDonald, Lars Plate
ACS Infect Dis. Author manuscript; available in PMC 2024 Mar 5.
Published in final edited form as: ACS Infect Dis. 2020 Dec 11; 6(12): 3174–3189. Published online 2020 Dec 2. doi: 10.1021/acsinfecdis.0c00500
PMCID:
PMC7724760
AbstractArticlePDF–2.1M
12.
ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Robert C. Green, Jonathan S. Berg, Wayne W. Grody, Sarah S. Kalia, Bruce R. Korf, Christa L. Martin, Amy McGuire, Robert L. Nussbaum, Julianne M. O’Daniel, Kelly E. Ormond, Heidi L. Rehm, Michael S. Watson, Marc S. Williams, Leslie G. Biesecker
Genet Med. Author manuscript; available in PMC 2014 Jan 1.
Published in final edited form as: Genet Med. 2013 Jul; 15(7): 565–574. Published online 2013 Jun 20. doi: 10.1038/gim.2013.73
PMCID:
PMC3727274
AbstractArticlePDF–65K
13.
LUBAC assembles a ubiquitin signaling platform at mitochondria for signal amplification and transport of NF‐κB to the nucleus
Zhixiao Wu, Lena A Berlemann, Verian Bader, Dominik A Sehr, Eva Dawin, Alberto Covallero, Jens Meschede, Lena Angersbach, Cathrin Showkat, Jonas B Michaelis, Christian Münch, Bettina Rieger, Dmitry Namgaladze, Maria Georgina Herrera, Fabienne C Fiesel, Wolfdieter Springer, Marta Mendes, Jennifer Stepien, Katalin Barkovits, Katrin Marcus, Albert Sickmann, Gunnar Dittmar, Karin B Busch, Dietmar Riedel, Marisa Brini, Jörg Tatzelt, Tito Cali, Konstanze F Winklhofer
EMBO J. 2022 Dec; 41(24): e112006. Published online 2022 Nov 18. doi: 10.15252/embj.2022112006
PMCID:
PMC9753471
AbstractArticlePDF–4.3M
14.
Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development
Meaghan Van Alstyne, Francesco Lotti, Andrea Dal Mas, Estela Area Gomez, Livio Pellizzoni
Biochem Biophys Res Commun. Author manuscript; available in PMC 2019 Nov 30.
Published in final edited form as: Biochem Biophys Res Commun. 2018 Nov 30; 506(3): 463–470. Published online 2018 Oct 22. doi: 10.1016/j.bbrc.2018.10.073
PMCID:
PMC6242727
AbstractArticlePDF–910K
15.
TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1
François Le Guerroué, Eric N Bunker, William M Rosencrans, Jack T Nguyen, Mohammed A Basar, Achim Werner, Tsui-Fen Chou, Chunxin Wang, Richard J Youle
Mol Cell. Author manuscript; available in PMC 2024 Mar 16.
Published in final edited form as: Mol Cell. 2023 Mar 16; 83(6): 927–941.e8. Published online 2023 Mar 9. doi: 10.1016/j.molcel.2023.02.023
PMCID:
PMC10112281
AbstractArticlePDF–2.4M
16.
MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity
Oliver Stehling, Ajay A. Vashisht, Judita Mascarenhas, Zophonias O. Jonsson, Tanu Sharma, Daili J.A. Netz, Antonio J. Pierik, James A. Wohlschlegel, Roland Lill
Science. Author manuscript; available in PMC 2013 Jan 13.
Published in final edited form as: Science. 2012 Jul 13; 337(6091): 195–199. Published online 2012 Jun 7. doi: 10.1126/science.1219723
PMCID:
PMC3420340
AbstractArticlePDF–1.8M
17.
Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress
Jiaojiao Yu, Tao Li, Yu Liu, Xi Wang, Jianchao Zhang, Xi'e Wang, Guizhi Shi, Jizhong Lou, Likun Wang, Chih‐chen Wang, Lei Wang
EMBO J. 2020 May 18; 39(10): e103841. Published online 2020 Mar 9. doi: 10.15252/embj.2019103841
PMCID:
PMC7232009
AbstractArticlePDF–5.5M
18.
The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion
M Swayampakula, P C McDonald, M Vallejo, E Coyaud, S C Chafe, A Westerback, G Venkateswaran, J Shankar, G Gao, E M N Laurent, Y Lou, K L Bennewith, C T Supuran, I R Nabi, B Raught, S Dedhar
Oncogene. 2017 Nov 9; 36(45): 6244–6261. Published online 2017 Jul 10. doi: 10.1038/onc.2017.219
PMCID:
PMC5684442
AbstractArticlePDF–4.4M
19.
Defining human ERAD networks through an integrative mapping strategy
John C. Christianson, James A. Olzmann, Thomas A. Shaler, Mathew E. Sowa, Eric J. Bennett, Caleb M. Richter, Ryan E. Tyler, Ethan J. Greenblatt, J. Wade Harper, Ron R. Kopito
Nat Cell Biol. Author manuscript; available in PMC 2012 Jul 1.
Published in final edited form as: Nat Cell Biol. 2012 Jan; 14(1): 93–105. Published online 2011 Nov 27. doi: 10.1038/ncb2383
PMCID:
PMC3250479
AbstractArticlePDF–2.7M
20.
FBXO32 links ubiquitination to epigenetic reprograming of melanoma cells
Nadia Habel, Najla El-Hachem, Frédéric Soysouvanh, Hanene Hadhiri-Bzioueche, Serena Giuliano, Sophie Nguyen, Pavel Horák, Anne-Sophie Gay, Delphine Debayle, Nicolas Nottet, Guillaume Béranger, Brigitte Bressac-de Paillerets, Corine Bertolotto, Robert Ballotti
Cell Death Differ. 2021 Jun; 28(6): 1837–1848. Published online 2021 Jan 18. doi: 10.1038/s41418-020-00710-x
PMCID:
PMC8184796
AbstractArticlePDF–2.4M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center