Publications by authors named "J P H M Creemers"
In many socially monogamous bird species with biparental care, occasional social polygyny has been detected. We provide information about a case of facultative polygyny in the European Nightjar (). The male nightjar (I96) formed a pair with two females (I95: the presumed primary female with whom he already bred since 2018; M042: the presumed secondary female, an inexperienced yearling).
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- Congenital myasthenic syndrome-22 (CMS22) is a rare genetic condition linked to variations in the PREPL gene, with previous research focusing mainly on deletions and nonsense mutations.
- This study investigates missense variants in PREPL from three CMS22 patients, revealing that these variants do not affect hydrolase activity, which contradicts existing diagnostic standards.
- Structural analysis indicates that these missense variants interfere with protein interactions and highlight the significance of PREPL's nonhydrolytic functions, suggesting that CMS22 can arise from different types of genetic changes beyond just deletions.
Although leucine zipper tumour suppressor 1 (LZTS1) has been considered a potential tumour suppressor, accumulating evidence suggests that LZTS1 is highly expressed in many cancer types. To unravel the exact role of LZTS1 in colorectal carcinogenesis, we performed the bioinformatic analysis of LZTS1, including expression differences, correlations between expression levels and survival, methylation status of LZTS1 promoter and related cellular pathways based on TCGA dataset, GEO databases and our own CRC patient cohort. Furthermore, we confirmed the oncogenic function of LZTS1 in human mammalian cells by employing a series of assays including tissue microarray, immunoblotting, cell proliferation and migration assay.
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- Aortic aneurysms (AA) often happen because of problems with a protein called TGF-β, and researchers were looking at a gene called FURIN that helps process this protein.
- They found rare changes in the FURIN gene in some patients with aortic aneurysms, and these changes were linked to more serious health issues.
- The study suggests that FURIN is an important gene that can increase the chances of having different types of aortic aneurysms, and how it affects people can vary based on their unique genetics.
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome.
Biochim Biophys Acta Mol Basis Dis
June 2024
Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, growth retardation, and hyperphagia leading to rapid weight gain later in childhood. The phenotypic similarities with Prader-Willi syndrome (PWS) are striking, suggesting that similar pathways are affected.
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