craniofacial abnormalities/phosphatase

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Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development.

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Mutations within the protein tyrosine phosphatase, SHP2, which is encoded by PTPN11, cause a significant proportion of Noonan syndrome (NS) cases, typically presenting with both cardiac disease and craniofacial abnormalities. Neural crest cells (NCCs) participate in both heart and skull formation,

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.

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Alpha 1 (XI) collagen (Col11a1) is essential for normal skeletal development. Mutations in Col11a1 cause Marshall and Stickler syndromes, both of which are characterized by craniofacial abnormalities, nearsightedness and hearing deficiencies. Despite its link to human diseases, few studies have

Regulation of PP2A activity by Mid1 controls cranial neural crest speed and gangliogenesis.

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X-linked Opitz syndrome (XLOS), caused by mutation in the MID1 gene, is a midline malformation syndrome with obvious craniofacial abnormalities. Because cranial neural crest cells (CNC) play a pivotal role in cranial morphogenesis, we examined the spatio-temporal expression of cMid1 in chick embryos

Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia.

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Hypophosphatasia (HPP) is an inborn-error-of-metabolism disorder characterized by deficient bone and tooth mineralization due to loss-of function mutations in the gene (Alpl) encoding tissue-nonspecific alkaline phosphatase (TNAP). Alpl(-/-) mice exhibit many characteristics seen in infantile HPP

Type III collagen regulates osteoblastogenesis and the quantity of trabecular bone.

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Type III collagen (Col3), a fibril-forming collagen, is a major extracellular matrix component in a variety of internal organs and skin. It is also expressed at high levels during embryonic skeletal development and is expressed by osteoblasts in mature bone. Loss of function mutations in the gene

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

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Noonan syndrome is a common human autosomal dominant birth defect, characterized by short stature, facial abnormalities, heart defects and possibly increased risk of leukemia. Mutations of Ptpn11 (also known as Shp2), which encodes the protein-tyrosine phosphatase Shp2, occur in approximately 50% of

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