Literature DB >> 19694890

Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family.

M Kurban, Y Shimomura, R Bahhady, S Ghosn, A-G Kibbi, A M Christiano.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19694890     DOI： 10.1111/j.1468-3083.2009.03381.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


× No keyword cloud information.
  3 in total

1.  NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.

Authors:  Muhammad Wajid; Mazen Kurban; Yutaka Shimomura; Angela M Christiano
Journal:  Dermatology       Date:  2009-12-10       Impact factor: 5.366

2.  ALOX12B promotes carcinogenesis in cervical cancer by regulating the PI3K/ERK1 signaling pathway.

Authors:  Tao Jiang; Bing Zhou; Yuan Meng Li; Qui Ying Yang; Kai Jia Tu; Long Yu Li
Journal:  Oncol Lett       Date:  2020-05-19       Impact factor: 2.967

3.  Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Authors:  Lei Zhang; Yanqiu Hu; Jingjing Lu; Peiwei Zhao; Xiankai Zhang; Li Tan; Jun Li; Cuiping Xiao; Linkong Zeng; Xuelian He
Journal:  Front Genet       Date:  2022-08-08       Impact factor: 4.772
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.