| 1 | ALDH3A2, SLS
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| Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery.
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| Naganuma T, Takagi S, Kanetake T, Kitamura T, Hattori S, Miyakawa T, Sassa T, Kihara A.
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| J Biol Chem 291(22):11676-88. doi: 10.1074/jbc.M116.714030. Epub 2016 Apr 6.
2016
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| 2 | SLS
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| Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
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| Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E.
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| Ophthalmology 122(8):1730-2. doi: 10.1016/j.ophtha.2015.02.003. Epub 2015 Mar 14. No abstract available.
2015
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| 3 | ALDH3A2, SLS
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| A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
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| Incecık F, Herguner OM, Rizzo WB, Altunbasak S.
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| Ann Indian Acad Neurol 16(3):425-7. doi: 10.4103/0972-2327.116927.
2013
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| 4 | ALDH3A2, SLS
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| Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
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| Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.
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| J Child Neurol 28(10):1259-65. doi: 10.1177/0883073812460581. Epub 2012 Oct 3.
2013
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| 5 | ALDH3A2, SLS
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| The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.
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| Nakahara K, Ohkuni A, Kitamura T, Abe K, Naganuma T, Ohno Y, Zoeller RA, Kihara A.
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| Mol Cell 46(4):461-71. doi: 10.1016/j.molcel.2012.04.033.
2012
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| 6 | ALDH3A2, SLS
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| Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
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| Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O.
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| J Neurol Sci 312(1-2):123-6. doi: 10.1016/j.jns.2011.08.006. Epub 2011 Aug 26.
2012
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| 7 | ALDH3A2, SLS
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| Large contiguous gene deletions in Sjögren-Larsson syndrome.
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| Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB.
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| Mol Genet Metab 104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30.
2011
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| 8 | ALDH3A2, SLS
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| Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
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| Lloyd MD, Boardman KD, Smith A, van den Brink DM, Wanders RJ, Threadgill MD.
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| J Enzyme Inhib Med Chem 22(5):584-90.
2007
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| 9 | ALDH3A2,SLS
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| Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
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| Rizzo WB, Carney G.
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| Hum Mutat 26(1):1-10. 2005
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| 10 | ALDH3A2, SLS
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| Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome.
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| Willemsen MA, Rotteveel JJ, de Jong JG, Wanders RJ, IJlst L, Hoffmann GF, Mayatepek E.
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| J Neurol Sci 183(1):61-7. 2001
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| 11 | ALDH3A2, SLS
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| The molecular basis of Sjogren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
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| Rizzo WB, Carney G, Lin Z.
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| Am J Hum Genet 65(6):1547-60 1999
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| 12 | ALDH3A2, SLS
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| Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjogren-Larsson syndrome.
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| Sillen A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Kuster W, Wadelius C.
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| Hum Mutat 12 : 377-384. 1998
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| 13 | SLS
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| Detailed genetic and physical mapping in the Sjogren-Larsson syndrome gene region in 17p11.2.
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| Sillen A, Alderborn A, Pigg M, Jagell S, Wadelius C.
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| Hereditas 128 : 245-250. 1998
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| 14 | ALDH3A2, SLS
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| Human fatty aldehyde dehydrogenase gene (ALDH10) : organization and tissue-dependent expression.
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| Chang C, et al.
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| Genomics 40 : 80-85. 1997
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| 15 | ALDH3A2, SLS
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| A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden.
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| Sillen A, Jagell S, Wadelius C.
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| Hum Genet 100(2):201-3. 1997
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| 16 | ALDH3A2, SLS
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| Sjšgren-Larsson syndrome is caused by a common mutation in Northern European and Swedish patients.
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| De Laurenzi V, Rogers GR, Tarcsa E, Carney G, Marekov L, Bale SJ, Compton JG, Markova N, Steinert PM, Rizzo WB.
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| J Invest Dermatol 109(1):79-83. 1997
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| 17 | ALDH3A2, SLS
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| Mutations associated with Sjogren-Larsson syndrome.
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| Tsukamoto N, Chang C, Yoshida A.
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| Ann Hum Genet 61(Pt 3):235-42. 1997
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| 18 | ALDH3A2, SLS
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| Sjšgren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.
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| De Laurenzi V, et al.
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| Nat Genet 12 : 52-57. 1996
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| 19 | SLS
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| Confirmation of linkage of Sjšgren-Larsson syndrome to chromosome 17 in families of different ethnic origins.
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| Lacour M, et al.
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| J Med Genet 33 : 258-259. 1996
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| 20 | SLS, ALDH3A2
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| Genetic homogeneity in Sjšgren-Larsson syndrome : linkage to chromosome 17p in families of different non-Swedish ethnic origins.
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| Rogers GR, et al.
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| Am J Hum Genet 57 : 1123-1129. 1995
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| 21 | SLS
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| The Sjšgren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.
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| Pigg M, et al.
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| Nat Genet 8 : 361-364. 1994
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