Year |
Citation |
Score |
2015 |
Abdelhamed ZA, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA, Jagger DJ. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Disease Models & Mechanisms. 8: 527-41. PMID 26035863 DOI: 10.1242/dmm.019083 |
0.517 |
|
2015 |
Hartill V, Logan C, Parry D, Szymanska K, Ashcroft K, English K, Prescott K, Dobbie A, Barwick S, Bennett C, Goodship J, Sheridan E, Johnson C. Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing Cilia. 4: 9. DOI: 10.1186/2046-2530-4-S1-P9 |
0.304 |
|
2015 |
Shoaib E, Abdelhamed Z, Szymanska K, Bell S, Morrison E, Johnson C. Biochemical characterization of transmembrane proteins (TMEMs) in the ciliary transition zone Cilia. 4: 75. DOI: 10.1186/2046-2530-4-S1-P75 |
0.334 |
|
2015 |
Abdelhamed Z, Natarajan S, Inglehearn C, Toomes C, Johnson C, Jagger D. The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2 Cilia. 4. DOI: 10.1186/2046-2530-4-S1-P40 |
0.533 |
|
2013 |
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, ... ... Johnson C, et al. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Human Molecular Genetics. 22: 2177-85. PMID 23418306 DOI: 10.1093/Hmg/Ddt070 |
0.347 |
|
2013 |
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, ... ... Johnson C, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics : Ejhg. 21: 1074-8. PMID 23386033 DOI: 10.1038/Ejhg.2012.305 |
0.322 |
|
2009 |
Adams M, Dawe H, Wheway G, Szymanska K, Logan C, Noegel A, Gull K, Johnson C. 16-P005 Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton Mechanisms of Development. 126. DOI: 10.1016/J.Mod.2009.06.696 |
0.32 |
|
2007 |
Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genetics. 39: 727-9. PMID 17468754 DOI: 10.1038/Ng2038 |
0.316 |
|
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