PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis-Reference-Cited by-同舟云学术

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis

Published:2023-01-30 Issue:4 Volume:142 Page:477-482
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Shamseldin Hanan E.,Derar Nada,Alzaidan Hamad,AlHathal Naif,Alfalah Abdullah,Abdulwahab Firdous,Alzaid Tariq,Alkeraye Salim,Alobaida Saud A.,Alkuraya Fowzan S.^ORCID

Funder

King Salman Center for Disability Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-023-02527-3.pdf

Reference21 articles.

1. Aldahmesh MA, Mohamed JY, Alkuraya HS et al (2011) Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 89(6):745–750

2. Alsaif HS, Al-Owain M, Barrios-Llerena ME et al (2019) Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome. Am J Hum Genet 105(5):1016–1022

3. Basel-Vanagaite L, Attia R, Ishida-Yamamoto A et al (2007) Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet 80(3):467–477

4. Berry M (2007) The potential of trace amines and their receptors for treating neurological and psychiatric diseases. Rev Recent Clin Trials 2(1):3–19

5. Blaydon DC, Nitoiu D, Eckl K-M et al (2011) Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet 89(4):564–571

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