Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree-Reference-Cited by-同舟云学术

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Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree

Published:2020-04-06 Issue:4 Volume:295 Page:1039-1053
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Alavi Afagh,Darki Faezeh,Bidgoli Mohammad Masoud Rahimi,Zare-Abdollahi Davood,Moini Ashraf,Shahshahani Mostafa M.,Fischer Judith,Elahi Elahe

Funder

Iran National Science Foundation

Iran's National Elites Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-020-01663-z.pdf

Reference53 articles.

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2001) Merlin—rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30(1):97

2. Akiyama M, Sakai K, Yanagi T, Tabata N, Yamada M, Shimizu H (2010) Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. Br J Dermatol 163(1):201–204

3. AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A (2015) Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Investig 125(1):258–262. https://doi.org/10.1172/JCI78473

4. Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E (2012) Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol 39(4):375–381

5. Anuka E, Gal M, Stocco DM, Orly J (2013) Expression and roles of steroidogenic acute regulatory (StAR) protein in ‘non-classical’, extra-adrenal and extra-gonadal cells and tissues. Mol Cell Endocrinol 371(1–2):47–61

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review;Frontiers in Endocrinology;2024-04-26

2. Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy;Frontiers in Genetics;2022-08-08

3. Fresh insight into premature ovarian insufficiency;Ginekologia Polska;2021-05-07

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