The refractive state of the eye in Icelandic horses with the Silver mutation

Autor: Maria K. Johansson, Kim Jäderkvist Fegraeus, Gabriella Lindgren, Björn Ekesten

Publikováno v: BMC Veterinary Research, Vol 13, Iss 1, Pp 1-7 (2017)

Abstract Background The syndrome Multiple Congenital Ocular Anomalies (MCOA) is a congenital eye disorder in horses. Both the MCOA syndrome and the Silver coat colour in horses are caused by the same missense mutation in the premelanosome protein (PM

Externí odkaz: https://doaj.org/article/5c3d06bb971e432d98fbc062edb61852

Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice

Autor: Stefan Karlsson, Maria K. Johansson, Anders Fasth, Vincent Everts, Teun J. de Vries, Johan Richter, Ann C.M. Brun, Mats Ehinger, Ton Schoenmaker

Publikováno v: Johansson, M K, de Vries, T J, Schoenmaker, A M, Ehinger, M, Brun, A C, Fasth, A, Karlsson, S, Everts, V & Richter, J 2007, ' Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice ', Blood, vol. 109, pp. 5178-5185 . https://doi.org/10.1182/blood-2006-12-061382
Blood, 109, 5178-5185. American Society of Hematology
Blood; 109(12), pp 5178-5185 (2007)

Infantile malignant osteopetrosis (IMO) is a fatal disease caused by lack of functional osteoclasts, and the only available treatment is hematopoietic stem cell (HSC) transplantation. In the majority of patients, the TCIRG1 gene, coding for a subunit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab4d9092833a1d61cd4b0c261d9e7c81
https://doi.org/10.1182/blood-2006-12-061382