anti-ALX Homeobox 3 (ALX3) Antibodies

Human ALX Homeobox 3 (ALX3) interaction partners

1. Genome scan using 250k Nsp1 (show SH2D3A Antibodies) array followed by exome and Sanger sequence analysis revealed a novel homozygous nonsense variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in frontorhiny in the family. This is the first mutation in the ALX3 gene, underlying frontorhiny, in Pakistani population.

2. Exclusion of mutations in ALX3 gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

3. We report a novel Y214X mutation in ALX3 in frontorhiny.

4. The lack of a chromosome 1-derived fragment of ALX3 in restriction landmark genomic scanning and virtual genome scans of neuroblastomas is attributable to hypermethylation.

5. Chromatin immunoprecipitation assays indicated that Alx3 in mouse pancreatic islets occupies the promoter of the mouse insulin (show INS Antibodies) genes.

6. ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny.

7. Rat Alx3 undergoes restrictive or permissive interactions with nuclear proteins that determine its binding to and transactivation from TAAT target sites selected in a cell-specific manner.

Mouse (Murine) ALX Homeobox 3 (ALX3) interaction partners

1. Study shows that ALX3 deficiency provides a novel molecular mechanism for developmental defects arising from maternal hyperglycaemia.

2. results indicate that Alx3 expression is enhanced by BMP-2 (show BMP2 Antibodies) via the BMP receptors mediated-Smad (show SMAD1 Antibodies) signaling and that Alx3 is a positive regulator of osteoblast differentiation induced by BMP-2 (show BMP2 Antibodies)

3. Glucose-stimulated expression of ALX3 in alpha cells provides a regulatory mechanism for the downregulation of glucagon (show GCG Antibodies) gene expression by interfering with PAX6 (show PAX6 Antibodies)-mediated transactivation on the glucagon (show GCG Antibodies) G1 promoter element.

4. Pdx1 (show PDX1 Antibodies), USF1 (show USF1 Antibodies) and USF2 (show USF2 Antibodies) co-ordinately regulate Alx3 gene expression in pancreatic beta-cells.

5. Alx3 promoter activity in mesenchymal and pancreatic cells is regulatd by USF transcription factors and Twist1 (show TWIST1 Antibodies)

6. ALX3 could be considered as a candidate gene for the etiopathogenesis of diabetes or its complications during embryonic or fetal development is discussed

7. ALX3 participates in the regulation of the expression of essential genes for the function of pancreatic islets, and its deficiency alters the regulation of glucose homeostasis in vivo.

8. Alx3-deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects.