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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

作者信息

Boyden L M, Craiglow B G, Hu R H, Zhou J, Browning J, Eichenfield L, Lim Y L, Luu M, Randolph L M, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton R P, Paller A S, Milstone L M, Choate K A

机构信息

Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.

Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.

出版信息

Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7.

DOI:10.1111/bjd.15570
PMID:28403545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5522355/
Abstract
摘要

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本文引用的文献

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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.基因靶向新一代测序在常染色体隐性先天性鱼鳞病表型谱患者中鉴定出PNPLA1突变：近亲结婚的影响
J Invest Dermatol. 2017 Mar;137(3):678-685. doi: 10.1016/j.jid.2016.11.012. Epub 2016 Nov 21.
2
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.斯堪的纳维亚地区常染色体隐性先天性鱼鳞病谱系：132例患者的临床特征及新发现和复发性突变
Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418.
3
Mol Syndromol. 2021 Oct;12(6):351-361. doi: 10.1159/000516943. Epub 2021 Aug 24.
4
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.全转录组 RNA 测序在近亲婚配的孟德尔皮肤疾病遗传诊断中的应用
Clin Chem. 2021 Jun 1;67(6):876-888. doi: 10.1093/clinchem/hvab042.
5
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.角蛋白化障碍的分子遗传学——关于鱼鳞病的新认识。
Acta Derm Venereol. 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431.
6
Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.靶向区域测序在两个常染色体隐性先天性鱼鳞病的中国家系中鉴定出四个新的 PNPLA1 突变。
Mol Genet Genomic Med. 2020 Feb;8(2):e1076. doi: 10.1002/mgg3.1076. Epub 2019 Dec 13.
7
Insights into genetics, human biology and disease gleaned from family based genomic studies.从基于家族的基因组研究中获得的遗传学、人类生物学和疾病的见解。
Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18.
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F1000Res. 2018 Jun 27;7. doi: 10.12688/f1000research.14514.1. eCollection 2018.
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J Dermatol Sci. 2016 Apr;82(1):46-8. doi: 10.1016/j.jdermsci.2015.12.012. Epub 2015 Dec 31.
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J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21.
5
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6
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PLoS One. 2012;7(4):e33580. doi: 10.1371/journal.pone.0033580. Epub 2012 Apr 12.
7
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.PNPLA1 突变导致金毛猎犬和人类常染色体隐性先天性鱼鳞病。
Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056.
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Characterization of the human patatin-like phospholipase family.人类类马铃薯块茎蛋白磷脂酶家族的特征分析
J Lipid Res. 2006 Sep;47(9):1940-9. doi: 10.1194/jlr.M600185-JLR200. Epub 2006 Jun 25.
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Autosomal dominant lamellar ichthyosis.
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