Associated Papers
The cytoplasmic domains of the CNNM family of transmembrane proteins modulate the ion channel-kinase TRPM7.
Tetteh S et al.
The Journal of Biological Chemistry, 2025
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
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
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
26502894 (PubMed )
Supplement: jmedgenet-2015-103302-s1.pdf
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
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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