ArticleJournal of biomedical science2017
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1
Article in Journal of biomedical science, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Biomolecular condensates in kidney physiology and disease.Nature reviews. Nephrology · 2023Review
- Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.Nature communications · 2022Article
- Kctd15 regulates nephron segment development by repressing Tfap2a activity.Development (Cambridge, England) · 2020Article
- AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.Developmental cell · 2020Article
- KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.CNS neuroscience & therapeutics · 2019Review
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIncreased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models for kidney diseases on the genetic background of C3H inbred mice in the phenotype-driven Munich ENU mouse mutagenesis project. The phenotypically dominant mutant line HST014 was established and further analyzed.
methodsAnalysis of the causative mutation as well as the standardized, systemic phenotypic analysis of the mutant line was carried out.
resultsThe causative mutation was detected in the potassium channel tetramerization domain containing 1 (Kctd1) gene which leads to the amino acid exchange Kctd1
conclusionsIn summary, the main alteration of the Kctd1
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