ArticleAmerican journal of human genetics2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 97 citations in OpenAlex.
- microRNAs Regulate Cellular Magnesium by Tuning Expression of the Plasma Membrane Protein CNNM4.ACS chemical biology · 2025Article
- A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Novel mutation inInternational journal of ophthalmology · 2025Article
- Differential regulation of magnesium transporters Slc41, Cnnm and Trpm6-7 in the kidney of salmonids may represent evolutionary adaptations to high salinity environments.BMC genomics · 2024Article
- Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.Scientific reports · 2024Article
- Development of a high-throughput screening system targeting the protein-protein interactions between PRL and CNNM.Scientific reports · 2024Article
- Dimerization of the CNNM extracellular domain.Protein science : a publication of the Protein Society · 2024Article
- Prognostic significance of CNNM4 in ovarian cancer: a comprehensive bioinformatics analysis.Frontiers in oncology · 2024Article
- High-Quality Chromosome-Level Genome Assembly of the Corsac Fox (International journal of molecular sciences · 2023Article
- Current opinion on the regulation of small intestinal magnesium absorption.World journal of gastroenterology · 2023Review
- Article
- Cone pathway dysfunction in Jalili syndrome due to a novel familial variant ofOphthalmic genetics · 2022Article
- Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.Molecular genetics & genomic medicine · 2022Article
- Crystal structure of an archaeal CorB magnesium transporter.Nature communications · 2021Article
- Article
- Structural basis for the MgScience advances · 2021Article
- PRL3 pseudophosphatase activity is necessary and sufficient to promote metastatic growth.The Journal of biological chemistry · 2020Article
- Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.American journal of medical genetics. Part A · 2020Article
- Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.International journal of molecular sciences · 2019Article
- Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy.PLoS genetics · 2019Article
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNP) haplotype analysis to fine map the locus and a gene-candidate approach, we identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.