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Woods, CG, Stricker, S, Seemann, P, Stern, R, Cox, J, Sherridan, E, Roberts, E, Springell, K, Scott, S, Karbani, G, Sharif, SM, Toomes, C, Bond, J, Kumar, D, Al-Gazali, L and Mundlos, S (2006) Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am. J. Hum. Genet. 79:402-8
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.
Amino Acid Sequence; Animals; Avian Proteins/genetics; Chickens; Chondrogenesis/genetics; Chondrogenesis/physiology; Ectromelia/genetics; Ectromelia/physiopathology; Ectromelia/radiography; Female; Gene Deletion; Genetic Linkage; Humans; Limb Buds/growth & development; Limb Buds/metabolism; Male; Molecular Sequence Data; Mutation, Missense; Organ Culture Techniques; Pedigree; Proto-Oncogene Proteins/genetics; Wnt Proteins/genetics