ArticleHuman molecular genetics2009
Mice defective in Trpm6 show embryonic mortality and neural tube defects.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
52 citing papers in PubMed, 105 citations in OpenAlex.
- Dolutegravir developmental toxicity is mitigated by magnesium and folate in zebrafish embryos.Disease models & mechanisms · 2026Article
- Application and translational research of magnesium in nursing care of orthopedic diseases: from mechanism to clinical translation.Frontiers in chemistry · 2026Review
- Molecular Pathogenesis of Joint Hypermobility: The Role of Intergenic Interactions.Medical sciences (Basel, Switzerland) · 2025Article
- The Molecular Biology of Placental Transport of Calcium to the Human Foetus.International journal of molecular sciences · 2025Review
- Characterization of intestine-specific TRPM6 knockout C57BL/6 J mice: effects of short-term omeprazole treatment.Pflugers Archiv : European journal of physiology · 2025Article
- TRPM channels in health and disease.Nature reviews. Nephrology · 2024Review
- Ghrelin enhances tubular magnesium absorption in the kidney.Frontiers in physiology · 2024Article
- Physiology of a Forgotten Electrolyte-Magnesium Disorders.Advances in kidney disease and health · 2023Review
- Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.Frontiers in cell and developmental biology · 2023Article
- Structural and functional comparison of magnesium transporters throughout evolution.Cellular and molecular life sciences : CMLS · 2022Review
- Article
- Transcriptional Control ofInternational journal of molecular sciences · 2022Article
- Expression ofFrontiers in pediatrics · 2022Article
- Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.Frontiers in pediatrics · 2022Article
- Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary HypocalcemiaJournal of clinical research in pediatric endocrinology · 2021Article
- Importance of the renal ion channel TRPM6 in the circadian secretion of renin to raise blood pressure.Nature communications · 2021Article
- Mapping the expression of transient receptor potential channels across murine placental development.Cellular and molecular life sciences : CMLS · 2021Article
- Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects.Scientific reports · 2021Article
- Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.Frontiers in genetics · 2021Article
- Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.Neural development · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
The syndrome of hypomagnesemia with secondary hypocalcemia is caused by defective TRPM6. This protein is an ion channel that also contains a kinase in its C-terminus. It is usually diagnosed in childhood and, without treatment with supplemental Mg, affected children suffer from mental retardation, seizures and retarded development. We developed a mouse lacking Trpm6 in order to understand in greater detail the function of this protein. In contrast to our expectations, Trpm6(-/-) mice almost never survived to weaning. Many mice died by embryonic day 12.5. Most that survived to term had neural tube defects consisting of both exencephaly and spina bifida occulta, an unusual combination. Feeding dams a high Mg diet marginally improved offspring survival to weaning. The few Trpm6(-/-) mice that survived were fertile but matings between Trpm6(-/-) mice produced no viable pregnancies. Trpm6(+/-) mice had normal electrolytes except for modestly low plasma [Mg]. In addition, some Trpm6(+/-) mice died prematurely. Absence of Trpm6 produces an apparently different phenotype in mice than in humans. The presence of neural tube defects identifies a previously unsuspected role of Trpm6 in effecting neural tube closure. This genetic defect produces one of very few mouse models of spina bifida occulta. These results point to a critical role of Trpm6 in development and suggest an important role in neural tube closure.
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Registered trials
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.