Lipoma preferred partner is a mechanosensitive protein regulated by nitric oxide in the heart

por Hooper, Charlotte L., Dash, Philip R., Boateng, Samuel Y.
Publicado 2012

MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy

por Lange, Stephan, Gehmlich, Katja, Lun, Alexander S., Blondelle, Jordan, Hooper, Charlotte, Dalton, Nancy D., Alvarez, Erika A., Zhang, Xiaoyu, Bang, Marie-Louise, Abassi, Yama A., dos Remedios, Cristobal G., Peterson, Kirk L., Chen, Ju, Ehler, Elisabeth
Publicado 2016

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion

por Ehsan, Mehroz, Kelly, Matthew, Hooper, Charlotte, Yavari, Arash, Beglov, Julia, Bellahcene, Mohamed, Ghataorhe, Kirandeep, Poloni, Giulia, Goel, Anuj, Kyriakou, Theodosios, Fleischanderl, Karin, Ehler, Elisabeth, Makeyev, Eugene, Lange, Stephan, Ashrafian, Houman, Redwood, Charles, Davies, Benjamin, Watkins, Hugh, Gehmlich, Katja
Publicado 2018

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2

por Broadway-Stringer, Sophie, Jiang, He, Wadmore, Kirsty, Hooper, Charlotte, Douglas, Gillian, Steeples, Violetta, Azad, Amar J., Singer, Evie, Reyat, Jasmeet S., Galatik, Frantisek, Ehler, Elisabeth, Bennett, Pauline, Kalisch-Smith, Jacinta I., Sparrow, Duncan B., Davies, Benjamin, Djinovic-Carugo, Kristina, Gautel, Mathias, Watkins, Hugh, Gehmlich, Katja
Publicado 2023

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant

por Jiang, He, Hooper, Charlotte, Kelly, Matthew, Steeples, Violetta, Simon, Jillian N., Beglov, Julia, Azad, Amar J., Leinhos, Lisa, Bennett, Pauline, Ehler, Elisabeth, Kalisch-Smith, Jacinta I., Sparrow, Duncan B., Fischer, Roman, Heilig, Raphael, Isackson, Henrik, Ehsan, Mehroz, Patone, Giannino, Huebner, Norbert, Davies, Benjamin, Watkins, Hugh, Gehmlich, Katja
Publicado 2021

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Lef...

por Hastings, Robert, de Villiers, Carin P., Hooper, Charlotte, Ormondroyd, Liz, Pagnamenta, Alistair, Lise, Stefano, Salatino, Silvia, Knight, Samantha J.L., Taylor, Jenny C., Thomson, Kate L., Arnold, Linda, Chatziefthimiou, Spyros D., Konarev, Petr V., Wilmanns, Matthias, Ehler, Elisabeth, Ghisleni, Andrea, Gautel, Mathias, Blair, Edward, Watkins, Hugh, Gehmlich, Katja
Publicado 2016