Publications by authors named "S Nef"
Urinary tract dilations (UTDs) are the most frequent prenatal renal anomaly. The spectrum of etiologies causing UTD ranges from mild spontaneously resolving obstruction to severe upper and lower urinary tract obstruction or reflux. The early recognition and management of these anomalies allows for improved renal endowment prenatally and ultimately better outcome for the child.
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- The anti-WNT factor ZNRF3 is crucial for determining gonadal sex, as XY mice lacking it show variable ovarian tissue development during fetal stages.
- Researchers used single-cell RNA sequencing to investigate how ZNRF3 deficiency affects cell development in the gonads, revealing failures in the proper differentiation of Sertoli and granulosa cells.
- The study finds that without ZNRF3, there is significant disruption in the expected testicular cell fate, leading to a mix of cellular identities that complicate the traditional understanding of sexual differentiation.
Directed differentiation of pluripotent stem cells into specialized cell types represents an invaluable tool for a wide range of applications. Here, we have exploited single-cell transcriptomic data to develop a stepwise in vitro differentiation system from mouse embryonic stem cells into adrenocortical cells. We show that during development, the adrenal primordium is embedded in an extracellular matrix containing tenascin and fibronectin.
View Article and Find Full Text PDFIntroduction: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable number of patients with an unknown genetic background. Recently, a mutation in the STARD8 X-linked gene in two sisters with 46,XY gonadal dysgenesis has been reported.
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- - A study involving 167 infertile patients identified bi-allelic mutations in the CCDC146 gene, linked to a condition known as multiple morphological abnormalities of the flagellum (MMAF) affecting sperm structure.
- - Researchers developed a knock-out mouse model, which showed that male mice lacking CCDC146 were infertile and had sperm characteristics similar to those of the mutated patients.
- - CCDC146 is important for the proper formation of sperm structures like the axoneme and other microtubule-related organelles, highlighting its role as a microtubule inner protein (MIP) that can lead to infertility when mutated.