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Items: 1 to 20 of 101

1.
Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation
Kamel T. Abidi, Naglaa M. Kamal, Ayman A. Bakkar A., Maram Alotaibi, Haifa Asseri, Kawthar A. Bokari
Mol Genet Genomic Med. 2020 Nov; 8(11): e1487. Published online 2020 Sep 15. doi: 10.1002/mgg3.1487
PMCID:
PMC7667322
AbstractArticlePDF–890K
2.
Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis
Zhenhua Yin, Dejun Wu, Jianping Shi, Xiyi Wei, Nuyun Jin, Xiaolan Lu, Xiaohan Ren
BMC Cancer. 2020; 20: 1062. Published online 2020 Nov 4. doi: 10.1186/s12885-020-07493-x
Correction in:
BMC Cancer. 2020; 20: 1141.
PMCID:
PMC7640415
AbstractArticlePDF–5.8M
3.
Macular Crystalline Inclusions in Sjögren-Larsson Syndrome are Dynamic Structures that Undergo Remodeling
Shaza N. Al-Holou, Edward Siefker, Samiksha Fouzdar-Jain, Donny W. Suh, William B. Rizzo
Ophthalmic Genet. Author manuscript; available in PMC 2021 Aug 1.
Published in final edited form as: Ophthalmic Genet. 2020 Aug; 41(4): 381–385. Published online 2020 Jun 8. doi: 10.1080/13816810.2020.1776340
PMCID:
PMC7425776
AbstractArticlePDF–1.1M
4.
Genotype and phenotype variability in Sjögren‐Larsson syndrome
Maximilian Weustenfeld, Reiner Eidelpes, Matthias Schmuth, William B. Rizzo, Johannes Zschocke, Markus A. Keller
Hum Mutat. 2019 Feb; 40(2): 177–186. Published online 2018 Nov 26. doi: 10.1002/humu.23679
PMCID:
PMC6587760
AbstractArticlePDF–762K
5.
Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
Kathleen Davis, Kenton R. Holden, Dana S’Aulis, Claudia Amador, M. Gisele Matheus, William B. Rizzo
J Child Neurol. Author manuscript; available in PMC 2018 Jul 2.
Published in final edited form as: J Child Neurol. 2013 Oct; 28(10): 1259–1265. Published online 2012 Oct 3. doi: 10.1177/0883073812460581
PMCID:
PMC6028016
AbstractArticlePDF–715K
6.
Segmentation of Retinal Layers in Sjögren–Larsson Syndrome
Loren S. Jack, Christy Benson, Mohammad A. Sadiq, William B. Rizzo, Eyal Margalit
Ophthalmology. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Ophthalmology. 2015 Aug; 122(8): 1730–1732. Published online 2015 Mar 14. doi: 10.1016/j.ophtha.2015.02.003
PMCID:
PMC4520310
ArticlePDF–826K
7.
Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome
Holly Engelstad, Gael Carney, Dana S'Aulis, Janae Rise, Warren G. Sanger, M. Katharine Rudd, Gabriele Richard, Christopher W. Carr, Omar A. Abdul-Rahman, William B. Rizzo
Mol Genet Metab. Author manuscript; available in PMC 2012 Nov 1.
Published in final edited form as: Mol Genet Metab. 2011 Nov; 104(3): 356–361. Published online 2011 May 30. doi: 10.1016/j.ymgme.2011.05.015
PMCID:
PMC3196763
AbstractArticlePDF–876K
8.
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome
William B. Rizzo, Debra A. Craft, Tara Somer, Gael Carney, Juliana Trafrova, Marcia Simon
J Lipid Res. Author manuscript; available in PMC 2011 Mar 15.
Published in final edited form as: J Lipid Res. 2008 Feb; 49(2): 410–419. Published online 2007 Oct 30. doi: 10.1194/jlr.M700469-JLR200
PMCID:
PMC3057183
AbstractArticlePDF–555K
9.
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome
Biagio Didona, Andrea Codispoti, Enrico Bertini, Wiliam B. Rizzo, Gael Carney, Giovanna Zambruno, Carlo Dionisi-Vici, Mauro Paradisi, Cristina Pedicelli, Gerry Melino, Alessandro Terrinoni
J Hum Genet. Author manuscript; available in PMC 2011 Mar 15.
Published in final edited form as: J Hum Genet. 2007; 52(10): 865–870. doi: 10.1007/s10038-007-0180-z
PMCID:
PMC3057174
AbstractArticlePDF–560K
10.
SJÖGREN-LARSSON SYNDROME: MOLECULAR GENETICS AND BIOCHEMICAL PATHOGENESIS OF FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY
William B. Rizzo
Mol Genet Metab. Author manuscript; available in PMC 2008 Jan 1.
Published in final edited form as: Mol Genet Metab. 2007 Jan; 90(1): 1–9. Published online 2006 Sep 22. doi: 10.1016/j.ymgme.2006.08.006
PMCID:
PMC1933507
AbstractArticlePDF–1.2M
11.
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.
G R Rogers, W B Rizzo, A Zlotogorski, N Hashem, M Lee, J G Compton, S J Bale
Am J Hum Genet. 1995 Nov; 57(5): 1123–1129.
PMCID:
PMC1801386
SummaryPage BrowsePDF–1008K
12.
The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene
William B. Rizzo, Gael Carney, Zhili Lin
Am J Hum Genet. 1999 Dec; 65(6): 1547–1560. Published online 1999 Nov 24. doi: 10.1086/302681
PMCID:
PMC1288365
AbstractArticlePDF–594K
13.
A gatekeeper helix determines the substrate specificity of Sjögren–Larsson Syndrome enzyme fatty aldehyde dehydrogenase
Markus A. Keller, Ulrich Zander, Julian E. Fuchs, Christoph Kreutz, Katrin Watschinger, Thomas Mueller, Georg Golderer, Klaus R. Liedl, Markus Ralser, Bernhard Kräutler, Ernst R. Werner, Jose A. Marquez
Nat Commun. 2014 Jul 22; 5: 4439. Published online 2014 Jul 22. doi: 10.1038/ncomms5439
PMCID:
PMC4109017
AbstractArticlePDF–1.8M
14.
Activin/Smad2 and Wnt/β-catenin up-regulate HAS2 and ALDH3A2 to facilitate mesendoderm differentiation of human embryonic stem cells
Xuanhao Xu, Lu Wang, Bofeng Liu, Wei Xie, Ye-Guang Chen
J Biol Chem. 2018 Nov 30; 293(48): 18444–18453. Published online 2018 Oct 3. doi: 10.1074/jbc.RA118.003688
PMCID:
PMC6290156
AbstractArticlePDF–4.1M
15.
Integrated proteomics-based physical and functional mapping of AXL kinase signaling pathways and inhibitors define its role in cell migration
Anurima Majumder, Sina Hosseinian, Mia Stroud, Emma Adhikari, James J. Saller, Matthew A. Smith, Guolin Zhang, Shruti Agarwal, Marc Creixell, Benjamin S. Meyer, Fumi Kinose, Kiah Bowers, Bin Fang, Paul A. Stewart, Eric A. Welsh, Theresa A. Boyle, Aaron S. Meyer, John M. Koomen, Eric B. Haura
Mol Cancer Res. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Mol Cancer Res. 2022 Apr 1; 20(4): 542–555. doi: 10.1158/1541-7786.MCR-21-0275
PMCID:
PMC8983558
AbstractArticlePDF–2.4M
16.
The Shieldin complex mediates 53BP1-dependent DNA repair
Sylvie M. Noordermeer, Salomé Adam, Dheva Setiaputra, Marco Barazas, Stephen J. Pettitt, Alexanda K. Ling, Michele Olivieri, Alejandro Álvarez-Quilón, Nathalie Moatti, Michal Zimmermann, Stefano Annunziato, Dragomir B. Krastev, Feifei Song, Inger Brandsma, Jessica Frankum, Rachel Brough, Alana Sherker, Sébastien Landry, Rachel K. Szilard, Meagan M. Munro, Andrea McEwan, Théo Goullet de Rugy, Zhen-Yuan Lin, Traver Hart, Jason Moffat, Anne-Claude Gingras, Alberto Martin, Haico van Attikum, Jos Jonkers, Christopher J. Lord, Sven Rottenberg, Daniel Durocher
Nature. Author manuscript; available in PMC 2019 Jan 18.
Published in final edited form as: Nature. 2018 Aug; 560(7716): 117–121. Published online 2018 Jul 18. doi: 10.1038/s41586-018-0340-7
PMCID:
PMC6141009
AbstractArticlePDF–5.1M
17.
Regulation of membrane fluidity by RNF145‐triggered degradation of the lipid hydrolase ADIPOR2
Norbert Volkmar, Christian M Gawden‐Bone, James C Williamson, Jonathon Nixon‐Abell, James A West, Peter H St George‐Hyslop, Arthur Kaser, Paul J Lehner
EMBO J. 2022 Oct; 41(19): e110777. Published online 2022 Aug 22. doi: 10.15252/embj.2022110777
PMCID:
PMC9531299
AbstractArticlePDF–6.9M
18.
A Lentiviral Functional Proteomics Approach Identifies Chromatin Remodeling Complexes Important for the Induction of Pluripotency
Anthony B. Mak, Zuyao Ni, Johannes A. Hewel, Ginny I. Chen, Guoqing Zhong, Konstantina Karamboulas, Kim Blakely, Sandra Smiley, Edyta Marcon, Denitza Roudeva, Joyce Li, Jonathan B. Olsen, Cuihong Wan, Thanuja Punna, Ruth Isserlin, Sergei Chetyrkin, Anne-Claude Gingras, Andrew Emili, Jack Greenblatt, Jason Moffat
Mol Cell Proteomics. 2010 May; 9(5): 811–823. Published online 2010 Mar 19. doi: 10.1074/mcp.M000002-MCP201
PMCID:
PMC2871416
AbstractArticlePDF–465K
19.
Systematic Affinity Purification Coupled to Mass Spectrometry Identified p62 as Part of the Cannabinoid Receptor CB2 Interactome
Ahmed Sharaf, Leonore Mensching, Christina Keller, Sebastian Rading, Marina Scheffold, Lysann Palkowitsch, Nevena Djogo, Meriem Rezgaoui, Hans A. Kestler, Barbara Moepps, Antonio Virgilio Failla, Meliha Karsak
Front Mol Neurosci. 2019; 12: 224. Published online 2019 Sep 20. doi: 10.3389/fnmol.2019.00224
PMCID:
PMC6763791
AbstractArticlePDF–3.6M
20.
Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results
George R. Uhl, Qing-Rong Liu, Tomas Drgon, Catherine Johnson, Donna Walther, Jed E. Rose, Sean P. David, Ray Niaura, Caryn Lerman
Arch Gen Psychiatry. Author manuscript; available in PMC 2008 Jun 17.
Published in final edited form as: Arch Gen Psychiatry. 2008 Jun; 65(6): 683–693. doi: 10.1001/archpsyc.65.6.683
PMCID:
PMC2430596
AbstractArticlePDF–1.0M

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