Associated Papers
New insights into the structure and function of CNNM proteins.
Chen YS et al.
The Febs Journal, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.
Li H et al.
Molecular Genetics & Genomic Medicine, 2022
CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells.
Bai Z et al.
Plos Biology, 2021
Structural basis for the Mg2+ recognition and regulation of the CorC Mg2+ transporter.
Huang Y et al.
Science Advances, 2021
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C et al.
Eye (london, England), 2015
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L et al.
Ophthalmic Genetics, 2013
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
Yamazaki D et al.
Plos Genetics, 2013
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
Gómez García I et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2011
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA et al.
American Journal of Human Genetics, 2009
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