Similar articles for PMID: 20672373

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1

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Akiyama M. Akiyama M. Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Hum Mutat. 2010. PMID: 20672373 Review.

2

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A. Montalván-Suárez M, et al. Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916489 Free PMC article.

3

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.

4

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

Akiyama M. Akiyama M. J Dermatol Sci. 2006 May;42(2):83-9. doi: 10.1016/j.jdermsci.2006.01.003. Epub 2006 Feb 14. J Dermatol Sci. 2006. PMID: 16481150 Free article. Review.

5

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. Nawaz S, et al. Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638. Eur J Dermatol. 2012. PMID: 22257947

6

The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.

Akiyama M. Akiyama M. Biochim Biophys Acta. 2014 Mar;1841(3):435-40. doi: 10.1016/j.bbalip.2013.08.009. Epub 2013 Aug 15. Biochim Biophys Acta. 2014. PMID: 23954554 Review.

7

Novel ABCA-12 mutations leading to recessive congenital ichthyosis.

Peterson H, Lofgren S, Bremmer S, Krol A. Peterson H, et al. Pediatr Dermatol. 2013 Nov-Dec;30(6):e236-7. doi: 10.1111/j.1525-1470.2011.01695.x. Epub 2012 Feb 3. Pediatr Dermatol. 2013. PMID: 22299640

8

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

Sugiura K, Akiyama M. Sugiura K, et al. J Dermatol Sci. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Epub 2015 Apr 30. J Dermatol Sci. 2015. PMID: 25982146 Review.

9

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Akiyama M, et al. J Clin Invest. 2005 Jul;115(7):1777-84. doi: 10.1172/JCI24834. J Clin Invest. 2005. PMID: 16007253 Free PMC article.

10

Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.

Loo BKG, Batilando MJ, Tan EC, Koh MJA. Loo BKG, et al. BMJ Case Rep. 2018 Jan 3;2018:bcr2017222025. doi: 10.1136/bcr-2017-222025. BMJ Case Rep. 2018. PMID: 29298786 Free PMC article.

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