Publications by authors named "N Kaci"
Expression of thyroid antigens in the female reproductive system.
Afr J Reprod Health
September 2024
Thyroid autoimmunity (TAI) has been linked to fertility disorders and pregnancy complications, even in euthyroid women. However, the exact pathophysiological mechanism underlying this association is not fully understood. This study seeks to investigate the expression of thyroid antigens within the human female reproductive system, potentially identifying targets for thyroid antibodies.
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- Achondroplasia (ACH) is a common genetic condition leading to disproportionate short stature, caused by mutations in the FGFR3 gene, affecting bone growth.
- A mouse model of ACH was treated with infigratinib, a selective FGFR inhibitor, at lower doses (0.2 and 0.5 mg/kg daily, and 1 mg/kg every 3 days), showing significant improvements in bone growth and skeletal development over 15 days.
- The study confirmed that infigratinib enhanced chondrocyte differentiation and helped alleviate complications like foramen magnum stenosis, suggesting its potential as a safe therapeutic option for children with ACH.
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and characterization of the first mouse model (Fgfr3Asn534Lys/+) of HCH to our knowledge.
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- - Crouzon syndrome with acanthosis nigricans (CAN) is a rare craniosynostosis characterized by early fusion of skull sutures and neurological issues, linked to a specific mutation (p.Ala391Glu) in the FGFR3 gene.
- - Researchers created a mouse model (Fgfr3A385E/+) to study the effects of this mutation, finding that while these mice didn't show craniosynostosis, they did have significant memory problems and abnormal brain structures.
- - The study revealed that the overactivation of FGFR3 in the brain, not just in the skull, contributed to cognitive deficits; using a FGFR3 inhibitor improved memory, suggesting potential treatment avenues for neurological
A gain-of-function mutation in the fibroblast growth factor receptor 3 gene (FGFR3) results in achondroplasia (ACH), the most frequent form of dwarfism. Constitutive activation of FGFR3 impairs bone formation and elongation and many signal transduction pathways. Identification of new and relevant compounds targeting the FGFR3 signaling pathway is of broad importance for the treatment of ACH, and natural plant compounds are prime drug candidate sources.
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