PMC Links for Gene (Select 785) - PMC

Links from Gene

Items: 1 to 20 of 22

<< First< Prev

Page of 2

Select item 71761491.

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J. Obermair, Maja Hempel, Bernhard E. Flucher, Kerstin Kutsche

PLoS Genet. 2020 Mar; 16(3): e1008625. Published online 2020 Mar 16. doi: 10.1371/journal.pgen.1008625

PMCID:: PMC7176149

Article PDF–3.9M

Select item 22424642.

Solution structure of the N-terminal A domain of the human voltage-gated Ca²⁺channel β_4a subunit

Andrew C. Vendel, Christopher D. Rithner, Barbara A. Lyons, William A. Horne

Protein Sci. 2006 Feb; 15(2): 378–383. doi: 10.1110/ps.051894506

PMCID:: PMC2242464

Article PDF–313K

Select item 67588753.

Alternative Splicing of the β₄ Subunit Has α₁ Subunit Subtype-Specific Effects on Ca²⁺ Channel Gating

Thomas D. Helton, William A. Horne

J Neurosci. 2002 Mar 1; 22(5): 1573–1582. doi: 10.1523/JNEUROSCI.22-05-01573.2002

PMCID:: PMC6758875

Article PDF–297K

Select item 42037354.

The juvenile myoclonic epilepsy mutant of the calcium channel β₄ subunit displays normal nuclear targeting in nerve and muscle cells

Solmaz Etemad, Marta Campiglio, Gerald J Obermair, Bernhard E Flucher

Channels (Austin) 2014 Jul 1; 8(4): 334–343. Published online 2014 May 29. doi: 10.4161/chan.29322

PMCID:: PMC4203735

Article PDF–3.7M

Select item 13780145.

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler

Am J Hum Genet. 2000 May; 66(5): 1531–1539. Published online 2000 Apr 4. doi: 10.1086/302909

PMCID:: PMC1378014

Summary PDF–718K

Select item 30589636.

The Ca²⁺ Channel β4c Subunit Interacts with Heterochromatin Protein 1 via a PXVXL Binding Motif

Xingfu Xu, Yoon J. Lee, Johanna B. Holm, Mark D. Terry, Robert E. Oswald, William A. Horne

J Biol Chem. 2011 Mar 18; 286(11): 9677–9687. Published online 2011 Jan 10. doi: 10.1074/jbc.M110.187864

PMCID:: PMC3058963

Article PDF–2.2M

Select item 66751617.

Alternative Splicing of the Voltage-Gated Ca²⁺ Channel β₄ Subunit Creates a Uniquely Folded N-Terminal Protein Binding Domain with Cell-Specific Expression in the Cerebellar Cortex

Andrew C. Vendel, Mark D. Terry, Amelia R. Striegel, Nicole M. Iverson, Valerie Leuranguer, Christopher D. Rithner, Barbara A. Lyons, Gary E. Pickard, Stuart A. Tobet, William A. Horne

J Neurosci. 2006 Mar 8; 26(10): 2635–2644. doi: 10.1523/JNEUROSCI.0067-06.2006

PMCID:: PMC6675161

Article PDF–584K

Select item 34422748.

Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy

Abir Tadmouri, Shigeki Kiyonaka, Maud Barbado, Matthieu Rousset, Katell Fablet, Seishiro Sawamura, Eloi Bahembera, Karin Pernet-Gallay, Christophe Arnoult, Takafumi Miki, Karin Sadoul, Sylvie Gory-Faure, Caroline Lambrecht, Florian Lesage, Satoshi Akiyama, Saadi Khochbin, Sylvain Baulande, Veerle Janssens, Annie Andrieux, Ricardo Dolmetsch, Michel Ronjat, Yasuo Mori, Michel De Waard

EMBO J. 2012 Sep 12; 31(18): 3730–3744. Published online 2012 Aug 14. doi: 10.1038/emboj.2012.226

PMCID:: PMC3442274

Article PDF–2.9M

Select item 2836159.

Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases

Brian S. Finlin, Shawn M. Crump, Jonathan Satin, Douglas A. Andres

Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14469–14474. Published online 2003 Nov 17. doi: 10.1073/pnas.2437756100

PMCID:: PMC283615

Article PDF–454K

Select item 313714010.

Haplotype Association Mapping of Acute Lung Injury in Mice Implicates Activin A Receptor, Type 1

George D. Leikauf, Vincent J. Concel, Pengyuan Liu, Kiflai Bein, Annerose Berndt, Koustav Ganguly, An Soo Jang, Kelly A. Brant, Maggie Dietsch, Hannah Pope-Varsalona, Richard A. Dopico, Jr., Y. P. Peter Di, Qian Li, Louis J. Vuga, Mario Medvedovic, Naftali Kaminski, Ming You, Daniel R. Prows

Am J Respir Crit Care Med. 2011 Jun 1; 183(11): 1499–1509. Published online 2011 Feb 4. doi: 10.1164/rccm.201006-0912OC

PMCID:: PMC3137140

Article PDF–1.8M

Select item 397876411.

A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients

Suyoun Chung, Siew-Kee Low, Hitoshi Zembutsu, Atsushi Takahashi, Michiaki Kubo, Mitsunori Sasa, Yusuke Nakamura

Breast Cancer Res. 2013; 15(5): R81. Published online 2013 Sep 11. doi: 10.1186/bcr3475

PMCID:: PMC3978764

Article PDF–282K

Select item 315335212.

Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women

Shoji Ichikawa, Daniel L Koller, Leah R Padgett, Dongbing Lai, Siu L Hui, Munro Peacock, Tatiana Foroud, Michael J Econs

J Bone Miner Res. 2010 Aug; 25(8): 1821–1829. Published online 2010 Feb 8. doi: 10.1002/jbmr.62

PMCID:: PMC3153352

Article PDF–371K

Select item 276385513.

Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening

Matthias Voss, Marcus Lettau, Ottmar Janssen

BMC Immunol. 2009; 10: 53. Published online 2009 Oct 6. doi: 10.1186/1471-2172-10-53

PMCID:: PMC2763855

Article PDF–712K

Select item 444121514.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Article PDF–1.2M

Select item 51531615.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Article PDF–181K

Select item 135612916.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Article PDF–438K

Select item 716998317.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Article PDF–5.4M

Select item 553161118.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Article PDF–2.7M

Select item 816503019.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Article PDF–2.2M

Select item 52892820.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 22

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity