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Items: 1 to 20 of 157

1.

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.

Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM.

Arch Dermatol Res. 2010 Aug;302(6):443-51. doi: 10.1007/s00403-009-1022-y.

2.

Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.

Rizzo WB.

Biochim Biophys Acta. 2014 Mar;1841(3):377-89. doi: 10.1016/j.bbalip.2013.09.001. Review.

3.

Sjogren-Larsson syndrome.

Dutra LA, Braga-Neto P, Pedroso JL, Povoas Barsottini OG.

Adv Exp Med Biol. 2012;724:344-50. doi: 10.1007/978-1-4614-0653-2_26. Review.

PMID:
22411255
4.

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.

J Child Neurol. 2013 Oct;28(10):1259-65. doi: 10.1177/0883073812460581.

PMID:
23034980
6.

The role of fatty aldehyde dehydrogenase in epidermal structure and function.

Rizzo WB.

Dermatoendocrinol. 2011 Apr;3(2):91-9. doi: 10.4161/derm.3.2.14619.

7.
8.

Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery.

Naganuma T, Takagi S, Kanetake T, Kitamura T, Hattori S, Miyakawa T, Sassa T, Kihara A.

J Biol Chem. 2016 May 27;291(22):11676-88. doi: 10.1074/jbc.M116.714030.

PMID:
27053112
9.

Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.

Rizzo WB, Craft DA, Somer T, Carney G, Trafrova J, Simon M.

J Lipid Res. 2008 Feb;49(2):410-9.

10.

Structural basis for the barrier abnormality following inhibition of HMG CoA reductase in murine epidermis.

Menon GK, Feingold KR, Mao-Qiang M, Schaude M, Elias PM.

J Invest Dermatol. 1992 Feb;98(2):209-19.

11.

Incomplete Sjögren-Larsson syndrome in two Japanese siblings.

Kawakami T, Saito R, Fujikawa Y, Kazama H, Shinomiya N, Yamaguchi K, Yamaguchi Y, Aoki T, Kobayashi T.

Dermatology. 1999;198(1):93-6.

PMID:
10026413
12.

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ.

Brain. 2001 Jul;124(Pt 7):1426-37. Review.

PMID:
11408337
13.

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.

Yiş U, Terrinoni A.

Turk J Pediatr. 2012 Jan-Feb;54(1):64-6.

PMID:
22397046
14.

Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.

Auada MP, Taube MB, Collares EF, Tanaka AM, Cintra ML.

Eur J Dermatol. 2002 May-Jun;12(3):263-6.

15.

A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.

Caglayan AO, Gumus H.

J Child Neurol. 2010 Aug;25(8):1003-5. doi: 10.1177/0883073809348972.

PMID:
20142464
16.

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

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.

J Neurol Sci. 2012 Jan 15;312(1-2):123-6. doi: 10.1016/j.jns.2011.08.006.

PMID:
21872273
17.
18.

Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.

Rizzo WB, Lin Z, Carney G.

Chem Biol Interact. 2001 Jan 30;130-132(1-3):297-307.

PMID:
11306053
19.

Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis.

Nigro JF, Rizzo WB, Esterly NB.

J Am Acad Dermatol. 1996 Nov;35(5 Pt 1):678-84.

PMID:
8912560
20.

Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis.

Schmuth M, Yosipovitch G, Williams ML, Weber F, Hintner H, Ortiz-Urda S, Rappersberger K, Crumrine D, Feingold KR, Elias PM.

J Invest Dermatol. 2001 Oct;117(4):837-47.

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