PMC Links for Gene (Select 224) - PMC

Links from Gene

Items: 1 to 20 of 99

<< First< Prev

Page of 5

Next >Last >>

Select item 76673221.

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

Article PDF–890K

Select item 76404152.

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

Article PDF–5.8M

Select item 74257763.

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

Article PDF–1.1M

Select item 65877604.

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

Article PDF–762K

Select item 60280165.

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

Article PDF–715K

Select item 45203106.

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

Article PDF–826K

Select item 31967637.

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

Article PDF–876K

Select item 30571838.

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

Article PDF–555K

Select item 30571749.

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

Article PDF–560K

Select item 193350710.

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

Article PDF–1.2M

Select item 180138611.

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

Summary Page Browse PDF–1008K

Select item 128836512.

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

Article PDF–594K

Select item 410901713.

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

Article PDF–1.8M

Select item 629015614.

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

Article PDF–4.1M

Select item 898355815.

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

Article PDF–2.4M

Select item 614100916.

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

Article PDF–5.1M

Select item 953129917.

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

Article PDF–6.9M

Select item 287141618.

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

Article PDF–465K

Select item 676379119.

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

Article PDF–3.6M

Select item 243059620.

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

Article PDF–1.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 99

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity