An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations
Page 1 of 1
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations
Jon Moulton Tue May 09, 2017 1:02 pm
Stayner C, Poole CA, McGlashan SR, Pilanthananond M, Brauning R, Markie D, Lett B, Slobbe L, Chae A, Johnstone AC, Jensen CG, McEwan JC, Dittmer K, Parker K, Wiles A, Blackburne W, Leichter A, Leask M, Pinnapureddy A, Jennings M, Horsfield JA, Walker RJ, Eccles MR. An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Sci Rep. 2017;7:1601. doi:10.1038/s41598-017-01519-4
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
» Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
» Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
» OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome
» Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling
» Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
» Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
» OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome
» Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum|
|
|