ArticleAmerican journal of human genetics2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Utero-placental calcium and magnesium ion channels: A systematic review of obstetric implications of their alterations.Channels (Austin, Tex.) · 2026Pooled it
- Functional expression of TRPV6 in human syncytiotrophoblasts from trophoblast stem cells - possible role in maternal-fetal calcium transport.The journal of physiological sciences : JPS · 2026Article
- Reevaluating the role of TRPV6 deficiency in human and mouse pancreatitis.American journal of physiology. Gastrointestinal and liver physiology · 2026Article
- Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion.Clinical endocrinology · 2026Article
- Open-channel block of human TRPV6 by polyamine spermine.Nature communications · 2026Article
- TRPV6-related intrauterine calciopenic rickets: a case report and literature review.Endocrinology, diabetes & metabolism case reports · 2026Article
- Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies.Prenatal diagnosis · 2026Article
- HAND1 controls the lineage bifurcation of trophoblast and amnion from human pluripotent stem cells.Cellular and molecular life sciences : CMLS · 2026Article
- TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.Journal of gastroenterology · 2026Article
- Transient neonatal hyperparathyroidism caused by a monoallelicJBMR plus · 2026Article
- The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II.Cell communication and signaling : CCS · 2025Article
- The locking mechanism of human TRPV6 inhibition by intracellular magnesium.Nature communications · 2025Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- TRPV6 channel function is involved in endometrial epithelial cell CaCellular and molecular life sciences : CMLS · 2025Article
- Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025Review
- The Molecular Biology of Placental Transport of Calcium to the Human Foetus.International journal of molecular sciences · 2025Review
- Structure-function analyses of human TRPV6 ancestral and derived haplotypes.Structure (London, England : 1993) · 2025Article
- Advances in the Study for Modulators of Transient Receptor Potential Vanilloid (TRPV) Channel Family.Current topics in medicinal chemistry · 2025Review
- A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.Calcified tissue international · 2024Review
- Bidirectional Allosteric Coupling between PIPInternational journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transient neonatal hyperparathyroidism (TNHP) is etiologically a heterogeneous condition. One of the etiologies is an insufficient maternal-fetal calcium transport through the placenta. We report six subjects with homozygous and/or compound-heterozygous mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 6 (TRPV6), an epithelial Ca
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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.