Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
Nagoya, Japan. In J Dermatol Sci, Jul 2015
The known causative molecules underlying ARCI include ABCA12, TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, PNPLA1, CERS3, and LIPN.
Autosomal recessive congenital ichthyoses in the Czech Republic.
Brno, Czech Republic. In Br J Dermatol, Jun 2015
Nine genes have been identified to be causative of ARCI, including TGM1 (1,2) , ABCA12 (3) , NIPAL4 (4) , CYP4F22 (5) , ALOX12B, ALOXE3 (6) , PNPLA1 (7) , LIPN (8) , and CERS3 (9) .
Leukotriene signaling in the extinct human subspecies Homo denisovan and Homo neanderthalensis. Structural and functional comparison with Homo sapiens.
Berlin, Germany. In Arch Biochem Biophys, 2015
For this study we extracted the nucleotide sequences of selected eicosanoid relevant genes (ALOX5, ALOX15, ALOX12, ALOX15B, ALOX12B, ALOXE3, COX1, COX2, LTA4H, LTC4S, ALOX5AP, CYSLTR1, CYSLTR2, BLTR1, BLTR2) from the corresponding databases.
The role of lipoxygenases in epidermis.
Heidelberg, Germany. In Biochim Biophys Acta, 2014
Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis and targeted disruption of the corresponding LOX genes in mice resulted in neonatal death due to a severely impaired permeability barrier function.
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Tel Aviv-Yafo, Israel. In Clin Exp Dermatol, 2013
RESULTS: In total, 20 families with ARCI were assessed, and causative mutations were identified in 7 genes: TGM1 (30% of patients), ALOX12B (20%), ABCA12 (5%), CYP4F22 (10%), ALOXE3 (10%), LIPN (5%) and NIPAL4 (5%) Two families (10%) had mutations mapped to an ARCI-associated locus on 12p11.2-q13,
Autosomal recessive congenital ichthyosis.
Santiago de Compostela, Spain. In Actas Dermosifiliogr, 2013
ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12.