PMC Links for GEO Profiles (Select 39377296) - PMC

Select item 111794161.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Fang Yang, Anais Begemann, Nadine Reichhart, Akvile Haeckel, Katharina Steindl, Eyk Schellenberger, Ronja Fini Sturm, Magalie Barth, Sissy Bassani, Paranchai Boonsawat, Thomas Courtin, Bruno Delobel, EuroEPINOMICS-RES Dravet working group, Boudewijn Gunning, Katia Hardies, Mélanie Jennesson, Louis Legoff, Tarja Linnankivi, Clément Prouteau, Noor Smal, Marta Spodenkiewicz, Sandra P. Toelle, Koen Van Gassen, Wim Van Paesschen, Nienke Verbeek, Alban Ziegler, Markus Zweier, Anselm H.C. Horn, Heinrich Sticht, Holger Lerche, Sarah Weckhuysen, Olaf Strauß, Anita Rauch

Am J Hum Genet. 2024 Jun 6; 111(6): 1184–1205. Published online 2024 May 13. doi: 10.1016/j.ajhg.2024.04.014

PMCID:: PMC11179416

Abstract Article PDF–8.8M

Select item 81650302.

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

Abstract Article PDF–2.2M

Select item 79629753.

Prediction of Functional Consequences of Missense Mutations in ANO4 Gene

Nadine Reichhart, Vladimir M. Milenkovic, Christian H. Wetzel, Olaf Strauß

Int J Mol Sci. 2021 Mar; 22(5): 2732. Published online 2021 Mar 8. doi: 10.3390/ijms22052732

PMCID:: PMC7962975

Abstract Article PDF–2.8M

Select item 67914984.

ANO4 (Anoctamin 4) Is a Novel Marker of Zona Glomerulosa That Regulates Stimulated Aldosterone Secretion

Carmela Maniero, Paolo Scudieri, Lalarukh Haris Shaikh, Wanfeng Zhao, Mark Gurnell, Luis J.V. Galietta, Morris J. Brown

Hypertension. 2019 Nov; 74(5): 1152–1159. Published online 2019 Sep 30. doi: 10.1161/HYPERTENSIONAHA.119.13287

PMCID:: PMC6791498

Abstract Article PDF–490K

Select item 63811685.

Anoctamin-4 is a bona fide Ca²⁺-dependent non-selective cation channel

Nadine Reichhart, Simon Schöberl, Susanne Keckeis, Ahmad S. Alfaar, Christophe Roubeix, Magdalena Cordes, Sergio Crespo-Garcia, Akvile Haeckel, Norbert Kociok, Renate Föckler, Gabriele Fels, Anja Mataruga, Robert Rauh, Vladimir M. Milenkovic, Kerstin Zühlke, Enno Klussmann, Eyk Schellenberger, Olaf Strauß

Sci Rep. 2019; 9: 2257. Published online 2019 Feb 19. doi: 10.1038/s41598-018-37287-y

PMCID:: PMC6381168

Abstract Article PDF–5.0M

Select item 61666826.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 58269267.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 40919868.

Genome-Wide Data reveals Novel Genes for Methotrexate Response in a Large Cohort of Juvenile Idiopathic Arthritis Cases

Joanna Cobb, Erika Cule, Halima Moncrieffe, Anne Hinks, Simona Ursu, Fiona Patrick, Laura Kassoumeri, Edward Flynn, Maja Bulatovic, Nico Wulffraat, Bertrand van Zelst, Robert de Jonge, Marek Bohm, Pavla Dolezalova, Shashi Hirani, Stanton Newman, Pamela Whitworth, Taunton R Southwood, Childhood Arthritis Response to Medication Study (CHARMS), Childhood Arthritis Prospective Study (CAPS), BSPAR study group, Maria De Iorio, Lucy R Wedderburn, Wendy Thomson

Pharmacogenomics J. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Pharmacogenomics J. 2014 Aug; 14(4): 356–364. Published online 2014 Apr 8. doi: 10.1038/tpj.2014.3

PMCID:: PMC4091986

Abstract Article PDF–513K

Select item 37609959.

Genome Wide Association Study of the Rate of Cognitive Decline in Alzheimer’s Disease

Richard Sherva, Yorghos Tripodis, David Bennett, Lori B. Chibnik, Paul K. Crane, Philip de Jager, Lindsay A. Farrer, Andrew J. Saykin, Joshua Shulman, Robert C. Green, the Alzheimer’s Disease Neuroimaging Initiative

Alzheimers Dement. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Alzheimers Dement. 2014 Jan; 10(1): 10.1016/j.jalz.2013.01.008. Published online 2013 Mar 25. doi: 10.1016/j.jalz.2013.01.008

PMCID:: PMC3760995

Abstract Article PDF–589K

Select item 317805910.

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 269728711.

Anoctamin/TMEM16 family members are Ca²⁺-activated Cl⁻ channels

H Criss Hartzell, Kuai Yu, Qinhuan Xiao, Li-Ting Chien, Zhiqiang Qu

J Physiol. 2009 May 15; 587(Pt 10): 2127–2139. Published online 2008 Nov 17. doi: 10.1113/jphysiol.2008.163709

PMCID:: PMC2697287

Abstract Article PDF–790K

Select item 135612912.

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

Abstract Article PDF–438K

Select item 13924113.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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