Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
International Journal Of Molecular Sciences
Vermeer, Mathilde C S C MCSC; Andrei, Daniela D; Marsili, Luisa L; van Tintelen, J Peter JP; Silljé, Herman H W HHW; van den Berg, Maarten P MP; van der Meer, Peter P; Bolling, Maria C MC
Calmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects.
Biomolecules
Zheng, Li L; Chenavas, Sylvie S; Kieken, Fabien F; Trease, Andrew A; Brownell, Sarah S; Anbanandam, Asokan A; Sorgen, Paul L PL; Spagnol, Gaelle G
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: GJA1: G143S; rs28931600
Connexins in Cardiovascular and Neurovascular Health and Disease: Pharmacological Implications.
Pharmacological Reviews
Leybaert, Luc L; Lampe, Paul D PD; Dhein, Stefan S; Kwak, Brenda R BR; Ferdinandy, Peter P; Beyer, Eric C EC; Laird, Dale W DW; Naus, Christian C CC; Green, Colin R CR; Schulz, Rainer R
Connexinopathies: a structural and functional glimpse.
Bmc Cell Biology
García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.
The Febs Journal
Chtchetinin, Jana J; Gifford, Wes D WD; Li, Sichen S; Paznekas, William A WA; Jabs, Ethylin Wang EW; Lai, Albert A
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.
Human Molecular Genetics
Dobrowolski, Radoslaw R; Sasse, Philipp P; Schrickel, Jan W JW; Watkins, Marcus M; Kim, Jung-Sun JS; Rackauskas, Mindaugas M; Troatz, Clemens C; Ghanem, Alexander A; Tiemann, Klaus K; Degen, Joachim J; Bukauskas, Feliksas F FF; Civitelli, Roberto R; Lewalter, Thorsten T; Fleischmann, Bernd K BK; Willecke, Klaus K