Acrocephalosyndactylia - Metabolism
Research News and Information

Sunday, November 22, 2009

Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model.

30 Jan 2009 Apert syndrome (AS) is a severe congenital disease caused by mutations in fibroblast growth factor receptor-2 (FGFR2), and characterised by craniofacial, limb, visceral, and neural abnormalities. AS-type FGFR2 molecules exert a gain-of-function ... Read more...

Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling.

28 Dec 2008 Mesenchymal stem cells (MSCs) are able to differentiate into several lineages including osteoblasts. The signaling mechanisms involved in the osteogenic differentiation of MSCs are however not fully understood. We investigated the role of fibroblast ... Read more...

FGFR2 signaling and the pathogenesis of acne.

30 Aug 2008 Acne in Apert syndrome and unilateral segmental acneiform nevus are associated with mutations of fibroblast growth factor receptor 2 (FGFR2), which are likely to be involved in the pathogenesis of acne. Translational animal and cellular models, ... Read more...

Latest indexed articles for 'Acrocephalosyndactylia - Metabolism'

These are the very latest articles for this heading:

• Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. 30 Jan 2009
• Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling. 28 Dec 2008
• FGFR2 signaling and the pathogenesis of acne. 30 Aug 2008
• A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. 29 Jan 2008
• Phosphoregulation of Twist1 provides a mechanism of cell fate control. 30 Dec 2007
• Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo - in vitro approach. 15 Dec 2007
• FGF2 effects in periosteal fibroblasts bearing the FGFR2 receptor Pro253 Arg mutation. 27 May 2007
• Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. 29 Nov 2006
• Inhibition or activation of Apert syndrome FGFR2 (S252W) signaling by specific glycosaminoglycans. 20 Dec 2005
• Twist is required for establishment of the mouse coronal suture. 29 Apr 2005
• Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. 25 Feb 2005
• Cbl-mediated ubiquitination of alpha5 integrin subunit mediates fibronectin-dependent osteoblast detachment and apoptosis induced by FGFR2 activation. 20 Feb 2005
• Re: Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis. Sakai et al. J Craniofac. Surg. 2001, 12: 580-585. 29 Jun 2002
• Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis. 29 Apr 2001
• Increased expression of protein kinase Calpha, interleukin-1alpha, and RhoA guanosine 5'-triphosphatase in osteoblasts expressing the Ser252Trp fibroblast growth factor 2 receptor Apert mutation: identification by analysis of complementary DNA microarray. 30 Mar 2001
• Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes. 25 Mar 2001
• Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. 17 Dec 2000
• A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10 Aug 2000
• Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis. 30 Dec 1999
• Differential in vitro phenotype pattern, transforming growth factor-beta(1) activity and mRNA expression of transforming growth factor-beta(1) in Apert osteoblasts. 30 Aug 1999

See a longer list of these articles.

Technical information about 'Acrocephalosyndactylia'

Definition: Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)

Descriptor UI: D000168

Alternative terms: Acrocephalosyndactylia; Acrocephalosyndactylias; Pfeiffer Syndrome; Syndrome, Pfeiffer; Saethre-Chotzen Syndrome; Saethre Chotzen Syndrome; Syndrome, Saethre-Chotzen; Apert Syndrome; Syndrome, Apert;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C05.116.099.370.894.232.015; C05.116.099.370.894.819.100; C05.660.207.240.100; C05.660.585.800.100; C05.660.906.364.100; C05.660.906.819.100; C16.131.621.207.240.100; C16.131.621.585.800.100; C16.131.621.906.364.100; C16.131.621.906.819.100;

Technical Notes: congen deform of skull, fingers & toes; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES