Publications by authors named "Heidi Schigt"
This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.
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- Kenny-Caffey syndrome (KCS) is a rare genetic disorder marked by short height, hypoparathyroidism, and electrolyte disturbances, with KCS1 and KCS2 linked to mutations in the TBCE and FAM111A genes.
- The study aimed to broaden the understanding of KCS1 and KCS2 by analyzing clinical data from 10 KCS2 patients and reviewing existing literature, revealing overlaps and uncommon symptoms.
- Findings indicated that chronic kidney disease is a new feature of KCS2, while intellectual disability and unique bone characteristics helped distinguish KCS1 from KCS2.
Article Synopsis
- Mutations in the HNF1β transcription factor are linked to kidney issues, diabetes, and electrolyte imbalances, prompting researchers to investigate its transcriptional targets for understanding the associated kidney phenotypes.
- The study identified BAIAP2L2 as a new target of HNF1β and confirmed its direct activation through a luciferase assay, alongside demonstrating its interaction with related proteins using mass spectrometry.
- Experiments using knockout models revealed that lack of BAIAP2L2 did not disrupt kidney architecture or electrolyte levels, indicating that BAIAP2L2 is not essential for maintaining kidney integrity under normal conditions.
Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reported FAM111A to function in antiviral response and DNA replication, its role in regulating electrolyte homeostasis remains unknown.
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