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- Nachgewiesen in: MEDLINE
- Sprachen: English
- Publication Type: Journal Article
- Language: English
- [Anim Genet] 2023 Apr; Vol. 54 (2), pp. 220-221. <i>Date of Electronic Publication: </i>2022 Dec 30.
- MeSH Terms: Tibia* ; Ectromelia* / genetics ; Ectromelia* / veterinary ; Animals ; Genes, Homeobox ; Mutation
- References: Beever, J.E. & Marron, B.M. (2012) Screening for the genetic defect causing tibial hemimelia in bovines. US Patent 8158356 B2. ; Brenig, B., Schutz, E., Hardt, M., Scheuermann, P. & Freick, M. (2015) A 20 bp duplication in exon 2 of the Aristaless-like Homeobox 4 gene (ALX4) is the candidate causative mutation for Tibial Hemimelia syndrome in Galloway cattle. PLoS ONE, 10, e0129208. ; Deimling, S., Sotiropoulos, C., Lau, K., Chaudhry, S., Sturgeon, K., Kelley, S. et al. (2016) Tibial hemimelia associated with GLI3 truncation. Journal of Human Genetics, 61, 443-446. ; Jones, D., Barnes, J. & Lloyd-Roberts, G.C. (1978) Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management. The Journal of Bone and Joint Surgery British, 60, 31-39. ; Panman, L., Drenth, T., Tewelscher, P., Zuniga, A. & Zeller, R. (2005) Genetic interaction of Gli3 and Alx4 during limb development. International Journal of Developmental Biology, 49, 443-448. ; Rosen, B.D., Bickhart, D.M., Schnabel, R.D., Koren, S., Elsik, C.G., Tseng, E. et al. (2020) De novo assembly of the cattle reference genome with single-molecule sequencing. Gigascience, 9, 1-9. ; Shang, Z., Isaac, V.E., Li, H., Patel, L., Catron, K.M., Curran, T. et al. (1994) Design of a “minimAl” homeodomain: the N-terminal arm modulates DNA binding affinity and stabilizes homeodomain structure. Proceedings of the National Academy of Sciences of the United States of America, 91, 8373-8377.
- SCR Disease Name: Absence of Tibia
- Entry Date(s): Date Created: 20221230 Date Completed: 20230306 Latest Revision: 20230308
- Update Code: 20231215
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