Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C, He Y, Jiang C, Zhang X, Zhu P, Li W, Zhou H, Xue C, Xia X.
Mol Med Rep. 2023 Jun;27(6):121. doi: 10.3892/mmr.2023.13008. Epub 2023 May 11.
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A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
Ding X, Zhou N, Lin H, Chen J, Zhao C, Zhou G, Hejtmancik JF, Qi Y.
Braverman NE, Carroll R, Muss C, Fallatah W, Jain M.
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PMID:20301447
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N.
Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20.
PMID:35986576
A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.
Javaid HA, Ashraf N, Mostafa R, Shehata N.
Cureus. 2022 Nov 20;14(11):e31702. doi: 10.7759/cureus.31702. eCollection 2022 Nov.
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Cataract-related variant R114C increases betaA3-crystallin susceptibility to environmental stresses by disrupting the protein senior structure.
Chen S, Guo J, Xu W, Song H, Xu J, Luo C, Yao K, Hu L, Chen X, Yu Y.
Int J Biol Macromol. 2024 Mar;262(Pt 2):130191. doi: 10.1016/j.ijbiomac.2024.130191. Epub 2024 Feb 13.
PMID:38360245
Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.
Roche O, Putterman M, Salomon J, Lacaille F, Brousse N, Goulet O, Dufier JL.
Am J Ophthalmol. 2010 Jul;150(1):116-121.e1. doi: 10.1016/j.ajo.2010.01.034. Epub 2010 May 5.
PMID:20447614
A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.
Yu Y, Qiao Y, Ye Y, Luo C, Yao K.
Am J Med Genet A. 2024 May;194(5):e63504. doi: 10.1002/ajmg.a.63504. Epub 2023 Dec 28.
PMID:38153133
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
Ye Y, Wu M, Qiao Y, Xie T, Yu Y, Yao K.
Ophthalmic Genet. 2019 Oct;40(5):428-435. doi: 10.1080/13816810.2019.1675179. Epub 2019 Oct 16.
PMID:31618082
Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).