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Select item 109700991.

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations

Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer

Genes (Basel) 2024 Mar; 15(3): 288. Published online 2024 Feb 24. doi: 10.3390/genes15030288

PMCID:: PMC10970099

Abstract Article PDF–452K

Select item 105658762.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 105304363.

Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP)

Alessandro Terrinoni, Gabriele Sala, Ernesto Bruno, Consuelo Pitolli, Marilena Minieri, Massimo Pieri, Alessandra Gambacurta, Elena Campione, Riccardo Belardi, Sergio Bernardini

Int J Mol Sci. 2023 Sep; 24(18): 13962. Published online 2023 Sep 11. doi: 10.3390/ijms241813962

PMCID:: PMC10530436

Abstract Article PDF–2.3M

Select item 100485684.

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer

Genes (Basel) 2023 Mar; 14(3): 717. Published online 2023 Mar 15. doi: 10.3390/genes14030717

PMCID:: PMC10048568

Abstract Article PDF–1.3M

Select item 93754125.

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello

Ital J Pediatr. 2022; 48: 145. Published online 2022 Aug 13. doi: 10.1186/s13052-022-01336-0

PMCID:: PMC9375412

Abstract Article PDF–1.2M

Select item 81650306.

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 69420447.

Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity

Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller

Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119

PMCID:: PMC6942044

Abstract Article PDF–10M

Select item 65030328.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

Martha Montalván‐Suárez, Uxia Saraiva Esperón‐Moldes, Laura Rodríguez‐Pazos, Andrés Ordóñez‐Ugalde, Fernanda Moscoso, Nora Ugalde‐Noritz, Luis Santomé, Laura Fachal, Daniel Tettamanti‐Miranda, Juan Carlos Ruiz, Manuel Ginarte, Ana Vega

Mol Genet Genomic Med. 2019 May; 7(5): e608. Published online 2019 Mar 27. doi: 10.1002/mgg3.608

PMCID:: PMC6503032

Abstract Article PDF–946K

Select item 64249709.

Positive selection in Europeans and East-Asians at the ABCA12 gene

Roberto Sirica, Marianna Buonaiuto, Valeria Petrella, Lucia Sticco, Donatella Tramontano, Dario Antonini, Caterina Missero, Ombretta Guardiola, Gennaro Andolfi, Heerman Kumar, Qasim Ayub, Yali Xue, Chris Tyler-Smith, Marco Salvemini, Giovanni D’Angelo, Vincenza Colonna

Sci Rep. 2019; 9: 4843. Published online 2019 Mar 19. doi: 10.1038/s41598-019-40360-9

PMCID:: PMC6424970

Abstract Article PDF–3.7M

Select item 610263610.

Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus

Fen Liu, Yao Yang, Yan Zheng, Yan-Hua Liang, Kang Zeng

Mol Med Rep. 2018 Sep; 18(3): 3153–3158. Published online 2018 Jul 31. doi: 10.3892/mmr.2018.9342

PMCID:: PMC6102636

Abstract Article PDF–1.3M

Select item 436785711.

New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing

Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg

Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6

PMCID:: PMC4367857

Abstract Article PDF–3.1M

Select item 420684012.

A Palindromic Motif in the −2084 to −2078 Upstream Region is Essential for ABCA12 Promoter Function in Cultured Human Keratinocytes

Yoshitaka Shimizu, Yasushi Ogawa, Kazumitsu Sugiura, Jun-ichi Takeda, Kaori Sakai-Sawada, Teruki Yanagi, Atsushi Kon, Daisuke Sawamura, Hiroshi Shimizu, Masashi Akiyama

Sci Rep. 2014; 4: 6737. Published online 2014 Oct 23. doi: 10.1038/srep06737

PMCID:: PMC4206840

Abstract Article PDF–497K

Select item 392667113.

High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H

HIROO IMAI, SHUNSUKE KATO, YASUHIRO SAKAMOTO, YUICHI KAKUDO, HIDEKI SHIMODAIRA, CHIKASHI ISHIOKA

Oncol Rep. 2014 Mar; 31(3): 1043–1050. Published online 2013 Dec 30. doi: 10.3892/or.2013.2953

PMCID:: PMC3926671

Abstract Article PDF–692K

Select item 385466914.

Genome Wide Association Study (GWAS) of Chagas Cardiomyopathy in Trypanosoma cruzi Seropositive Subjects

Xutao Deng, Ester C. Sabino, Edecio Cunha-Neto, Antonio L. Ribeiro, Barbara Ianni, Charles Mady, Michael P. Busch, Mark Seielstad, the REDSII Chagas study group from the NHLBI Retrovirus Epidemiology Donor Study-II (REDS-II), International Component

PLoS One. 2013; 8(11): e79629. Published online 2013 Nov 20. doi: 10.1371/journal.pone.0079629

PMCID:: PMC3854669

Abstract Article PDF–408K

Select item 328162815.

Cytoplasmic Metadherin (MTDH) Provides Survival Advantage under Conditions of Stress by Acting as RNA-binding Protein

Xiangbing Meng, Danlin Zhu, Shujie Yang, Xinjun Wang, Zhi Xiong, Yuping Zhang, Pavla Brachova, Kimberly K. Leslie

J Biol Chem. 2012 Feb 10; 287(7): 4485–4491. Published online 2011 Dec 23. doi: 10.1074/jbc.C111.291518

PMCID:: PMC3281628

Abstract Article PDF–2.0M

Select item 317805916.

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 289646417.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 270722818.

Ceramide Stimulates ABCA12 Expression via Peroxisome Proliferator-activated Receptor δ in Human Keratinocytes

Yan J. Jiang, Yoshikazu Uchida, Biao Lu, Peggy Kim, Cungui Mao, Masashi Akiyama, Peter M. Elias, Walter M. Holleran, Carl Grunfeld, Kenneth R. Feingold

J Biol Chem. 2009 Jul 10; 284(28): 18942–18952. Published online 2009 May 8. doi: 10.1074/jbc.M109.006973

PMCID:: PMC2707228

Abstract Article PDF–2.0M

Select item 266575619.

Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis

Anna C. Thomas, Daniel Tattersall, Elizabeth E. Norgett, Edel A. O'Toole, David P. Kelsell

Am J Pathol. 2009 Mar; 174(3): 970–978. doi: 10.2353/ajpath.2009.080860

PMCID:: PMC2665756

Abstract Article PDF–2.4M

Select item 194160120.

Expression of the Keratinocyte Lipid Transporter ABCA12 in Developing and Reconstituted Human Epidermis

Yasuko Yamanaka, Masashi Akiyama, Yoriko Sugiyama-Nakagiri, Kaori Sakai, Maki Goto, James R. McMillan, Mitsuhito Ota, Daisuke Sawamura, Hiroshi Shimizu

Am J Pathol. 2007 Jul; 171(1): 43–52. doi: 10.2353/ajpath.2007.061207

PMCID:: PMC1941601

Abstract Article PDF–3.6M

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