PMC Links for GEO Profiles (Select 93770388) - PMC

Select item 98259541.

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes

Baker Elsana, Ahed Imtirat, Ronit Yagev, Libe Gradstein, Pierre Majdalani, Oren Iny, Ruti Parvari, Erez Tsumi

Am J Med Genet A. 2022 Dec; 188(12): 3463–3468. Published online 2022 Sep 16. doi: 10.1002/ajmg.a.62968

PMCID:: PMC9825954

Abstract Article PDF–1.2M

Select item 85850612.

PRDM12 in Health and Diseases

Monica Rienzo, Erika Di Zazzo, Amelia Casamassimi, Patrizia Gazzerro, Giovanni Perini, Maurizio Bifulco, Ciro Abbondanza

Int J Mol Sci. 2021 Nov; 22(21): 12030. Published online 2021 Nov 6. doi: 10.3390/ijms222112030

PMCID:: PMC8585061

Abstract Article PDF–1.6M

Select item 81650303.

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 72120474.

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C Themistocleous, Tim M Strom, Chrysanthi Samara, Adrian W Moore, Lily Ting-Yin Cho, Gareth T Young, Caecilia Weiss, Maria Schabhüttl, Rolf Stucka, Annina B Schmid, Yesim Parman, Luitgard Graul-Neumann, Wolfram Heinritz, Eberhard Passarge, Rosemarie M Watson, Jens Michael Hertz, Ute Moog, Manuela Baumgartner, Enza Maria Valente, Diego Pereira, Carlos M Restrepo, Istvan Katona, Marina Dusl, Claudia Stendel, Thomas Wieland, Fay Stafford, Frank Reimann, Katja von Au, Christian Finke, Patrick J Willems, Michael S Nahorski, Samiha S Shaikh, Ofélia P Carvalho, Adeline K Nicholas, Gulshan Karbani, Maeve A McAleer, Maria Roberta Cilio, John C McHugh, Sinead M Murphy, Alan D Irvine, Uffe Birk Jensen, Reinhard Windhager, Joachim Weis, Carsten Bergmann, Bernd Rautenstrauss, Jonathan Baets, Peter De Jonghe, Mary M Reilly, Regina Kropatsch, Ingo Kurth, Roman Chrast, Tatsuo Michiue, David L H Bennett, C Geoffrey Woods, Jan Senderek

Nat Genet. Author manuscript; available in PMC 2020 May 11.

Published in final edited form as: Nat Genet. 2015 Jul 1; 47(7): 803–808. Published online 2015 May 25. doi: 10.1038/ng.3308

Correction in:: Nat Genet. 2015 Aug; 47(8): 962.

PMCID:: PMC7212047

Abstract Article PDF–1.8M

Select item 50980425.

Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells

Giorgio Oliviero, Gerard L. Brien, Ariane Waston, Gundula Streubel, Emilia Jerman, Darrell Andrews, Benjamin Doyle, Nayla Munawar, Kieran Wynne, John Crean, Adrian P. Bracken, Gerard Cagney

Mol Cell Proteomics. 2016 Nov; 15(11): 3450–3460. Published online 2016 Sep 15. doi: 10.1074/mcp.M116.062240

PMCID:: PMC5098042

Abstract Article PDF–1.9M

Select item 49758126.

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Stella Zhang, Saghira Malik Sharif, Ya-Chun Chen, Enza-Maria Valente, Mushtaq Ahmed, Eamonn Sheridan, Christopher Bennett, Geoffrey Woods

J Med Genet. 2016 Aug; 53(8): 533–535. Published online 2016 Mar 14. doi: 10.1136/jmedgenet-2015-103646

PMCID:: PMC4975812

Abstract Article PDF–307K

Select item 46135597.

The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception

Vanja Nagy, Tiffany Cole, Claude Van Campenhout, Thang M Khoung, Calvin Leung, Simon Vermeiren, Maria Novatchkova, Daniel Wenzel, Domagoj Cikes, Anton A Polyansky, Ivona Kozieradzki, Arabella Meixner, Eric J Bellefroid, G Gregory Neely, Josef M Penninger

Cell Cycle. 2015 Jun 15; 14(12): 1799–1808. Published online 2015 Apr 18. doi: 10.1080/15384101.2015.1036209

Correction in:: Cell Cycle. 2015; 14(19): 3203.

PMCID:: PMC4613559

Abstract Article PDF–989K

Select item 43345878.

Fractional exhaled nitric oxide in childhood is associated with 17q11.2-q12 and 17q12-q21 variants

Ralf JP van der Valk, Liesbeth Duijts, Nicolas J Timpson, Muhammad T Salam, Marie Standl, John A Curtin, Jon Genuneit, Marjan Kerhof, Eskil Kreiner-Møller, Alejandro Cáceres, Anna Gref, Liming L Liang, H Rob Taal, Emmanuelle Bouzigon, Florence Demenais, Rachel Nadif, Carole Ober, Emma E Thompson, Karol Estrada, Albert Hofman, André G Uitterlinden, Cornélia van Duijn, Fernando Rivadeneira, Xia Li, Sandrah P Eckel, Kiros Berhane, W James Gauderman, Raquel Granell, David M Evans, Beate St Pourcain, Wendy McArdle, John P Kemp, George Davey Smith, Carla MT Tiesler, Claudia Flexeder, Angela Simpson, Clare S Murray, Oliver Fuchs, Dirkje S Postma, Klaus Bønnelykke, Maties Torrent, Martin Andersson, Patrick Sleiman, Hakon Hakonarson, William O Cookson, Miriam F Moffatt, Lavinia Paternoster, Erik Melén, Jordi Sunyer, Hans Bisgaard, Gerard H Koppelman, Markus Ege, Adnan Custovic, Joachim Heinrich, Frank D Gilliland, Alexander J Henderson, Vincent WV Jaddoe, Johan C de Jongste, the EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium

J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: J Allergy Clin Immunol. 2014 Jul; 134(1): 46–55. Published online 2013 Dec 6. doi: 10.1016/j.jaci.2013.08.053

PMCID:: PMC4334587

Abstract Article PDF–1013K

Select item 31780599.

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

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