Associated Papers
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R et al.
Bmc Ophthalmology, 2022
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M et al.
European Journal of Ophthalmology, 2019
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
Ye Y et al.
Ophthalmic Genetics, 2019
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F et al.
Human Genetics, 2019
Human diseases associated with connexin mutations.
Srinivas M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.
Tong X et al.
The Journal of Physiology, 2014
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.
Tong JJ et al.
American Journal of Physiology. Cell Physiology, 2011
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
Connexin-caused genetic diseases and corresponding mouse models.
Dobrowolski R et al.
Antioxidants & Redox Signaling, 2009
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