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Items: 1 to 20 of 23

1.
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
ArticlePDF–452K
2.
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
ArticlePDF–2.3M
3.
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
ArticlePDF–1.3M
4.
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
ArticlePDF–946K
5.
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
ArticlePDF–3.7M
6.
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
ArticlePDF–1.3M
7.
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
ArticlePDF–497K
8.
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
ArticlePDF–2.4M
9.
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
ArticlePDF–3.6M
10.
Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis
David P. Kelsell, Elizabeth E. Norgett, Harriet Unsworth, Muy-Teck Teh, Thomas Cullup, Charles A. Mein, Patricia J. Dopping-Hepenstal, Beverly A. Dale, Gianluca Tadini, Philip Fleckman, Karen G. Stephens, Virginia P. Sybert, Susan B. Mallory, Bernard V. North, David R. Witt, Eli Sprecher, Aileen E. M. Taylor, Andrew Ilchyshyn, Cameron T. Kennedy, Helen Goodyear, Celia Moss, David Paige, John I. Harper, Bryan D. Young, Irene M. Leigh, Robin A. J. Eady, Edel A. O’Toole
Am J Hum Genet. 2005 May; 76(5): 794–803. Published online 2005 Mar 8. doi: 10.1086/429844
PMCID:
PMC1199369
ArticlePDF–944K
11.
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
ArticlePDF–2.0M
12.
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Masashi Akiyama, Yoriko Sugiyama-Nakagiri, Kaori Sakai, James R. McMillan, Maki Goto, Ken Arita, Yukiko Tsuji-Abe, Nobuko Tabata, Kentaro Matsuoka, Rikako Sasaki, Daisuke Sawamura, Hiroshi Shimizu
J Clin Invest. 2005 Jul 1; 115(7): 1777–1784. doi: 10.1172/JCI24834
PMCID:
PMC1159149
ArticlePDF–1.2M
13.
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
ArticlePDF–1.2M
14.
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
ArticlePDF–692K
15.
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
ArticlePDF–408K
16.
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
ArticlePDF–2.0M
17.
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
ArticlePDF–3.1M
18.
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
ArticlePDF–10M
19.
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
ArticlePDF–3.7M
20.
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
ArticlePDF–2.4M

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