Detalhe da pesquisa
1.
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Hum Mutat
; 30(5): 724-33, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19338053
2.
Receptor tyrosine kinases activate canonical WNT/ß-catenin signaling via MAP kinase/LRP6 pathway and direct ß-catenin phosphorylation.
PLoS One
; 7(4): e35826, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22558232
3.
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.
FEBS J
; 276(23): 6992-7005, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19860828
4.
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
J Cell Sci
; 119(Pt 3): 532-41, 2006 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16418219
5.
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Am J Hum Genet
; 72(2): 408-18, 2003 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-12457340
6.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Hum Genet
; 114(1): 68-76, 2003 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-14513358