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Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.

作者信息

Natsuga Ken, Akiyama Masashi, Kato Naoko, Sakai Kaori, Sugiyama-Nakagiri Yoriko, Nishimura Machiko, Hata Hiroo, Abe Masataka, Arita Ken, Tsuji-Abe Yukiko, Onozuka Takashi, Aoyagi Satoru, Kodama Kazuo, Ujiie Hideyuki, Tomita Yuki, Shimizu Hiroshi

出版信息

J Invest Dermatol. 2007 Nov;127(11):2669-73. doi: 10.1038/sj.jid.5700885. Epub 2007 May 17.

DOI:10.1038/sj.jid.5700885
PMID:17508018
Abstract
摘要

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Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.在两例与多发性皮肤恶性肿瘤相关的非大疱性先天性鱼鳞病样红皮病病例中鉴定出新型ABCA12突变。
J Invest Dermatol. 2007 Nov;127(11):2669-73. doi: 10.1038/sj.jid.5700885. Epub 2007 May 17.
2
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ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.ABCA12是非大疱性先天性鱼鳞病样红皮病的主要致病基因。
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Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.听力障碍：一名患有ABCA12基因突变的先天性鱼鳞病样红皮病患者的继发症状。
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Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window.在一名患有先天性鱼鳞病样红皮病和主肺动脉窗的患者中鉴定出新型ABCA12复合杂合突变。
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Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis.先天性鱼鳞病样红皮病伴周期性加重的轻症病例：ABCA12基因的新突变及表皮中钙卫蛋白的上调
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Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.在中国先天性鱼鳞红皮病患者中发现 ABCA12 复合杂合变体：推进基因型-表型相关性和文献复习。
Mol Genet Genomic Med. 2024 May;12(5):e2431. doi: 10.1002/mgg3.2431.
2
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.突尼斯南部家族性和散发性鱼鳞病的临床和遗传学研究：基因型-表型相关性。
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Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.
由于 CARD14 突变导致复制压力反应改变，促进了重组诱导的回复突变嵌合体。
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.在一名厄瓜多尔丑角鱼鳞病患者中鉴定出一种新型ABCA12病理变异：在基因型-表型相关性研究方面向前迈进了一步。
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The role of barrier genes in epidermal malignancy.屏障基因在表皮恶性肿瘤中的作用。
Oncogene. 2016 Nov 3;35(44):5705-5712. doi: 10.1038/onc.2016.84. Epub 2016 Apr 4.
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Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.常染色体隐性先天性鱼鳞病相关基因TGM1和ALOXE3中的新突变。
Int J Dermatol. 2016 May;55(5):524-30. doi: 10.1111/ijd.12950. Epub 2015 Nov 17.
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A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.位于 -2084 至 -2078 上游区域的回文基序对于培养的人角质形成细胞中 ABCA12 启动子功能至关重要。
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