PMC Links for GEO Profiles (Select 64943597) - PMC

Result Filters

Links from GEO Profiles

Items: 1 to 20 of 31

<< First< Prev

Page of 2

Select item 110747181.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Joohyun Park, Bianca R. Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B. Haack

J Med Genet. Author manuscript; available in PMC 2024 May 7.

Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 283–288. Published online 2019 Aug 22. doi: 10.1136/jmedgenet-2019-106273

PMCID:: PMC11074718

Abstract Article PDF–774K

Select item 99769572.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen

Brain. 2023 Mar; 146(3): 912–922. Published online 2022 Dec 21. doi: 10.1093/brain/awac488

PMCID:: PMC9976957

Abstract Article PDF–505K

Select item 92688873.

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease

Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Jun Takei, Mika Takeuchi, Yu Hiramatsu, Fumitaka Shimizu, Masaya Kubota, Akari Takeshima, Takehiro Ueda, Kishin Koh, Utako Nagaoka, Takashi Tokashiki, Setsu Sawai, Yusuke Sakiyama, Akihiro Hashiguchi, Ryota Sato, Takashi Kanda, Yuji Okamoto, Hiroshi Takashima

Ann Clin Transl Neurol. 2022 Jul; 9(7): 902–911. Published online 2022 Jun 22. doi: 10.1002/acn3.51603

PMCID:: PMC9268887

Abstract Article PDF–870K

Select item 90375544.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Abstract Article PDF–4.1M

Select item 85521605.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

Petya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M Murphy

BMJ Case Rep. 2021; 14(10): e244641. Published online 2021 Oct 27. doi: 10.1136/bcr-2021-244641

PMCID:: PMC8552160

Abstract Article PDF–405K

Select item 82827646.

N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation

Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas

Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.

Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017

PMCID:: PMC8282764

Abstract Article PDF–3.4M

Select item 82808207.

Phospho‐regulation, nucleotide binding and ion access control in potassium‐chloride cotransporters

Gamma Chi, Rebecca Ebenhoch, Henry Man, Haiping Tang, Laurence E Tremblay, Gabriella Reggiano, Xingyu Qiu, Tina Bohstedt, Idlir Liko, Fernando G Almeida, Alexandre P Garneau, Dong Wang, Gavin McKinley, Christophe P Moreau, Kiran D Bountra, Patrizia Abrusci, Shubhashish M M Mukhopadhyay, Alejandra Fernandez‐Cid, Samira Slimani, Julie L Lavoie, Nicola A Burgess‐Brown, Ben Tehan, Frank DiMaio, Ali Jazayeri, Paul Isenring, Carol V Robinson, Katharina L Dürr

EMBO J. 2021 Jul 15; 40(14): e107294. Published online 2021 May 25. doi: 10.15252/embj.2020107294

PMCID:: PMC8280820

Abstract Article PDF–3.6M

Select item 81650308.

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 77854949.

AMPK, a key regulator of metabolism and autophagy, is activated by lysosomal damage via a novel galectin-directed ubiquitin signal transduction system

Jingyue Jia, Bhawana Bissa, Lukas Brecht, Lee Allers, Seong Won Choi, Yuexi Gu, Mark Zbinden, Mark R. Burge, Graham Timmins, Kenneth Hallows, Christian Behrends, Vojo Deretic

Mol Cell. Author manuscript; available in PMC 2021 Mar 5.

Published in final edited form as: Mol Cell. 2020 Mar 5; 77(5): 951–969.e9. Published online 2020 Jan 28. doi: 10.1016/j.molcel.2019.12.028

PMCID:: PMC7785494

Abstract Article PDF–2.9M

Select item 757883310.

Phosphodiesterase 2A2 regulates mitochondria clearance through Parkin-dependent mitophagy

Miguel J. Lobo, Laia Reverte-Salisa, Ying-Chi Chao, Andreas Koschinski, Frank Gesellchen, Gunasekaran Subramaniam, He Jiang, Samuel Pace, Natasha Larcom, Ester Paolocci, Alexander Pfeifer, Sara Zanivan, Manuela Zaccolo

Commun Biol. 2020; 3: 596. Published online 2020 Oct 21. doi: 10.1038/s42003-020-01311-7

PMCID:: PMC7578833

Abstract Article PDF–4.3M

Select item 732206711.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 673230812.

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle

Mol Genet Genomic Med. 2019 Sep; 7(9): e892. Published online 2019 Aug 8. doi: 10.1002/mgg3.892

PMCID:: PMC6732308

Abstract Article PDF–792K

Select item 670345113.

Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum

Masoud Shekarabi, Randal X. Moldrich, Sarah Rasheed, Adéle Salin-Cantegrel, Janet Laganière, Daniel Rochefort, Pascale Hince, Karine Huot, Rébecca Gaudet, Nyoman Kurniawan, Susana G. Sotocinal, Jennifer Ritchie, Patrick A. Dion, Jeffrey S. Mogil, Linda J. Richards, Guy A. Rouleau

J Neurosci. 2012 Mar 14; 32(11): 3865–3876. doi: 10.1523/JNEUROSCI.3679-11.2012

PMCID:: PMC6703451

Abstract Article PDF–4.0M

Select item 616668214.

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 586483215.

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo

Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2

PMCID:: PMC5864832

Abstract Article PDF–4.5M

Select item 553161116.

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

Abstract Article PDF–2.7M

Select item 550649317.

Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

Kristopher T. Kahle, Bianca Flores, Diana Bharucha-Goebel, Jinwei Zhang, Sandra Donkervoort, Madhuri Hegde, Gulnaz Begum, Daniel Duran, Bo Liang, Dandan Sun, Carsten G. Bönnemann, Eric Delpire

Sci Signal. Author manuscript; available in PMC 2017 Aug 2.

Published in final edited form as: Sci Signal. 2016 Aug 2; 9(439): ra77. Published online 2016 Aug 2. doi: 10.1126/scisignal.aae0546

PMCID:: PMC5506493

Abstract Article PDF–1013K

Select item 549522518.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Abstract Article PDF–1.3M

Select item 508937419.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Abstract Article PDF–1.5M

Select item 461721120.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

<< First< Prev

Page of 2

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Links for GEO Profiles (Select 64943597) (31)
PMC
PREDICTED: Homo sapiens Raf-1 proto-oncogene, serine/threonine kinase (RAF1), tr...
PREDICTED: Homo sapiens Raf-1 proto-oncogene, serine/threonine kinase (RAF1), transcript variant X2, mRNA
gi|2217345299|ref|XM_047448649.1|

Nucleotide
Draba lonchocarpa isolate O7 internal transcribed spacer 1, partial sequence; 5....
Draba lonchocarpa isolate O7 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|94538294|gb|DQ467651.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: