Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy

Tamamoto-Mochizuki Chie; Banovic Frane; Bizikova Petra; Laprais Aurore; Linder Keith E.; Olivry Thierry

首页> 外文期刊>Veterinary Dermatology >Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy

【24h】

Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy

机译：金毛贵宾犬杂交狗中PNPLA1突变引起的常染色体隐性先天性鱼鳞病及局部治疗的效果

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Background - Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epidermal cornification. Although the clinical presentation, histopathological findings and genetic cause of autosomal recessive congenital ichthyosis (ARCI) in golden retriever dogs have been well investigated, the optimal management of this disease remains uncharacterized.

机译：背景-鱼鳞糖代表了表皮角质异常的遗传和表型异质综合症。尽管已经对金毛犬的常染色体隐性先天性鱼鳞病（ARCI）的临床表现，组织病理学发现和遗传原因进行了充分的研究，但该疾病的最佳治疗方法仍未明确。

著录项

来源
《Veterinary Dermatology》 |2016年第4期|共6页
作者
Tamamoto-Mochizuki Chie; Banovic Frane; Bizikova Petra; Laprais Aurore; Linder Keith E.; Olivry Thierry;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类皮肤病;
关键词

相似文献

外文文献
中文文献
专利

1. Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy [J] . Tamamoto-Mochizuki Chie, Banovic Frane, Bizikova Petra, Veterinary Dermatology . 2016,第4期

机译：金毛贵宾犬杂交狗中PNPLA1突变引起的常染色体隐性先天性鱼鳞病及局部治疗的效果
2. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function [J] . Zimmer A. D., Kim G. J., Hotz A., British Journal of Dermatology . 2017,第2期

机译：常染色体隐性先天性化学病患者的患者PNPLA1中的十六个新突变揭示了PNPLA1中延伸的粉饼结构域的重要性，这对于适当的人体皮肤屏障功能至关重要
3. A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5 [J] . Zhao Hui-Juan, Zeng Xin, Lei Peng-Cheng, European journal of dermatology: EJD . 2018,第2期

机译：一种具有常染色体隐性的先天性病症和Leber先天性用作PnPla1和LCA5引起的中国家庭
4. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis [O] . Liangshan Li, Wenmiao Liu, Yinglei Xu, 2020

机译：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庭中鉴定出四个新的PNPLA1突变
7. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy [O] . Amaury Briand, Noelle Cochet‐Faivre, Edouard Reyes‐Gomez, 2019

机译：Nipal4删除在美国欺凌中鉴定，具有常染色体隐性先天性化学性化学症和局部治疗的反应

Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy

摘要

著录项

相似文献

相关主题

期刊订阅