Publications by authors named "Z Kibar"
Congenital scoliosis (CS) is a type of vertebral malformation for which the etiology remains elusive. The notochord is pivotal for vertebrae development, but its role in CS is still understudied. Here, we generated a zebrafish knockout of ptk7a, a planar cell polarity (PCP) gene that is essential for convergence and extension (C&E) of the notochord, and detected congenital scoliosis-like vertebral malformations (CVMs).
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- Meningomyelocele is a serious neural tube defect and the most common structural birth defect affecting the central nervous system.
- The Spina Bifida Sequencing Consortium found that deletions on chromosome 22q11.2 increase the risk of meningomyelocele by 23 times compared to the general population.
- Research indicates that the deletion of specific genes in this region, combined with a lack of maternal folate, can significantly increase the risk of neural tube defects in offspring.
Article Synopsis
- - Congenital hypothyroidism due to thyroid dysgenesis (NS-CHTD) is a largely sporadic condition with a higher risk among first-degree relatives, but shows high discordance in identical twins, hinting at a complex genetic and environmental interaction.
- - Researchers conducted a study using whole-exome sequencing (WES) to discover potential new genes responsible for NS-CHTD by comparing affected individuals with unaffected controls, focusing on rare protein-altering variants.
- - Despite not finding new predisposing genes, the study identified that 42% of NS-CHTD cases contained rare variants in known congenital hypothyroidism genes, with some cases having multiple gene variants but no significant differences in severity between groups. *
Ribosome dysfunction is implicated in multiple abnormal developmental and disease states in humans. Heterozygous germline mutations in genes encoding ribosomal proteins are found in most individuals with Diamond-Blackfan anemia (DBA), whereas somatic mutations have been implicated in a variety of cancers and other disorders. Ribosomal protein-deficient animal models show variable phenotypes and penetrance, similar to human patients with DBA.
View Article and Find Full Text PDFThis study presents a methodology to predict the child poverty impact of COVID-19 that can be readily applied in other country contexts where similar household data are available-and illustrates this case using data from Turkey. Using Household Budget Survey 2018, the microsimulation model estimates the impact of labour income loss on household expenditures, considering that some types of jobs/sectors may be more vulnerable than others to the COVID-19 shock. Labour income loss is estimated to lead to reductions in monthly household expenditure using an income elasticity model, and expenditure-based child poverty is found to increase in Turkey by 4.
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