A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

Authors: Linyan Zhu, Rui Zhou, Lianxiao Zhang, Mei Chen, Shengmin Zhang, Xiaxi Huang, Yubo Shi, Huiqing Ding

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: autosomal recessive congenital ichthyosis (ARCI), ABCA12 gene, variant, minigene assay, mRNA splicing, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1505924/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/597a5df968c24bafb7c335303f25b42d

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review

Authors: Jia‐Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

Subject Terms: ABCA12, autosomal recessive congenital ichthyosis (ARCI), compound heterozygous variants, congenital ichthyosiform erythroderma (CIE), genotype–phenotype correlations, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/d05577da968d4a2fb85ff0763d24f03f

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses

Authors: May El Hachem, Damiano Abeni, Andrea Diociaiuti, Roberta Rotunno, Francesco Gesualdo, Giovanna Zambruno, Christine Bodermer

Source: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-6 (2019)

Subject Terms: Inherited ichthyosis, Autosomal recessive congenital ichthyosis (ARCI), Quality of life, Family burden, Dermatology, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-019-0618-x; https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/5f023f5b20ae48de9ee2580981c9d58b

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis

Authors: Liangshan Li, Wenmiao Liu, Yinglei Xu, Miaomiao Li, Qian Tang, Bo Yu, Renmei Cai, Shiguo Liu

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

Subject Terms: autosomal recessive congenital ichthyosis (ARCI), genetic analyses, PNPLA1, Sanger sequencing, targeted regions sequencing (TRS), Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/7c0c744c0ee64222a1203842c2797d73

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

Authors: Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Ayşe Nurten Akarsu, Ayşen Karaduman, Meral Özgüç

Source: The Turkish Journal of Pediatrics, Vol 59, Iss 4 (2017)

Subject Terms: PNPLA1, autosomal recessive congenital ichthyosis (ARCI), mutation, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://turkjpediatr.org/article/view/1018; https://doaj.org/toc/0041-4301; https://doaj.org/toc/2791-6421

Access URL: https://doaj.org/article/7cef93f76007490eba129dd67fa3871d

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

Authors: Wang, Tao, Xu, Chenchen, Zhou, Xiping, Li, Chunjia, Zhang, Hongbing, Lian, Bill Q., Liu, Yuehua, Lee, Jonathan J., Shen, Jun, Lian, Christine

Source: Wang, Tao, Chenchen Xu, Xiping Zhou, Chunjia Li, Hongbing Zhang, Bill Q. Lian, Jonathan J. Lee, Jun Shen, Yuehua Liu, and Christine Guo Lian. 2015. “Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction.” International Journal of Molecular Sciences 16 (9): 21791-21801. doi:10.3390/ijms160921791. http://dx.doi.org/10.3390/ijms160921791.

Subject Terms: autosomal recessive congenital ichthyosis (ARCI), non-bullous congenital ichthyosiformerythroderma (NBCIE), Whole Exon Sequencing (WES), arachidonatelipoxygenase 3 (ALOXE3), peroxisome proliferator-activated receptor α (PPARα)

File Description: application/pdf

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613280/pdf/; International Journal of Molecular Sciences

Access URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:23473906

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