Publications by authors named "Charmaine U Pira"
We report eight cases of complex radial polydactyly and/or ulnar dimelia each with a fistulous lesion of heterotopic respiratory mucosa in radial-anterior skin ranging from shoulder to wrist. Although speculative, the coincidence of these rare conditions suggests a mechanistic relationship.
View Article and Find Full Text PDFThe articulating ends of limb bones have precise morphology and asymmetry that ensures proper joint function. Growth differentiation factor 5 (Gdf5) is a secreted morphogen involved in cartilage and bone development that contributes to the architecture of developing joints. Dysregulation of Gdf5 results in joint dysmorphogenesis often leading to progressive joint degeneration or osteoarthritis (OA).
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- * Research in mice shows that Lmx1b is vital for the development of limbs, kidneys, and eyes, with its absence causing severe developmental issues similar to NPS.
- * The study identifies two regulatory modules (LARM1 and LARM2) that enhance Lmx1b expression in limbs and links loss-of-function variations in these regions to NPS, emphasizing the importance of these regulatory elements in disease development.
Article Synopsis
- - During limb development, fibroblast growth factors (Fgfs) play a crucial role in both the growth and patterning of limbs by coordinating signals with Sonic hedgehog (Shh) in specific cell zones.
- - The interaction between Fgf and Shh is essential for proper limb formation, but the details of how this feedback loop works remain unclear.
- - Research findings show that LHX2, a transcription factor, serves as an important intermediary in the regulation of Shh by Fgf, helping maintain its expression in the developing limb's distal area.
Lmx1b is a homeodomain transcription factor responsible for limb dorsalization. Despite striking double-ventral (loss-of-function) and double-dorsal (gain-of-function) limb phenotypes, no direct gene targets in the limb have been confirmed. To determine direct targets, we performed a chromatin immunoprecipitation against Lmx1b in mouse limbs at embryonic day 12.
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- - Lmx1b is a crucial transcription factor involved in limb development, specifically in regulating dorsal identity; its absence in knockout mice leads to abnormal limb formation.
- - By analyzing gene expression at various developmental stages, researchers identified 54 genes that Lmx1b regulates, which are key to proper limb dorsalization and scapula development.
- - The study highlights the role of Lmx1b in affecting extracellular matrix components, suggesting that changes in matrix composition are essential for correct limb structure formation.
Background: Nogo-A, a myelin-associated protein, inhibits neurite outgrowth and abates regeneration in the adult vertebrate central nervous system (CNS) and may play a role in maintaining neural pathways once established. However, the presence of Nogo-A during early CNS development is counterintuitive and hints at an additional role for Nogo-A beyond neurite inhibition.
Results: We isolated chicken NOGO-A and determined its sequence.
Article Synopsis
- * Researchers tested various methods for introducing genes into chick mesoderm, including viral vectors and electroporation, focusing on optimizing gene transfer to the wing buds during specific developmental stages.
- * They determined that using a beta-actin promoter vector with a viral component showed the best expression results, and electroporation with insulated microelectrodes was the preferred method for efficiently delivering genes and monitoring their effects.