A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

Autor: Jacinto, Joana G. P., Markey, Alysta D., Veiga, Inês M. B., Paris, Julia M., Welle, Monika, Beever, Jonathan E., Drögemüller, Cord

Publikováno v: Genes
Volume 12
Issue 7
Genes, Vol 12, Iss 1038, p 1038 (2021)
Jacinto, Joana G. P.; Markey, Alysta D.; Veiga, Inês M. B.; Paris, Julia M.; Welle, Monika; Beever, Jonathan E.; Drögemüller, Cord (2021). A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle. Genes, 12(7), p. 1038. MDPI, Molecular Diversity Preservation International 10.3390/genes12071038

Genodermatoses, such as heritable skin disorders, mostly represent Mendelian conditions. Congenital hypotrichosis (HY) characterize a condition of being born with less hair than normal. The purpose of this study was to characterize the clinicopatholo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed65d383d583c6d8fa23250d20ad93c7
http://europepmc.org/articles/PMC8304205

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep

Autor: Letko, Anna, Dijkman, Reinie, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Henderson, Katrina, Geraghty, Tim, Orr, Hannah, Scholes, Sandra, Drögemüller, Cord

Publikováno v: Genes
Volume 11
Issue 10
Genes, Vol 11, Iss 1147, p 1147 (2020)
Letko, Anna; Dijkman, Reinie; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Henderson, Katrina; Geraghty, Tim; Orr, Hannah; Scholes, Sandra; Drögemüller, Cord (2020). Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep. Genes, 11(10) MDPI, Molecular Diversity Preservation International 10.3390/genes11101147

Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46515c7a36eb5aca8d28ece185ea2349

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.

Autor: Häfliger, Irene M., Marchionatti, Emma, Stengård, Michele, Wolf-Hofstetter, Sonja, Paris, Julia M., Jacinto, Joana G. P., Watté, Christine, Voelter, Katrin, Occelli, Laurence M., Komáromy, András M., Oevermann, Anna, Goepfert, Christine, Borgo, Angelica, Roduit, Raphaël, Spengeler, Mirjam, Seefried, Franz R., Drögemüller, Cord

Publikováno v: International Journal of Molecular Sciences; Nov2021, Vol. 22 Issue 22, p12440, 1p