Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
Sommerfeld, Laura C., Holmes, Andrew P., Yu, Ting Y., O'Shea, Christopher, Kavanagh, Deirdre M., Pike, Jeremy M., Wright, Thomas, Syeda, Fahima, Aljehani, Areej, Kew, Tania, Cardoso, Victor R., Kabir, S. Nashitha, Hepburn, Claire, Menon, Priyanka R., Broadway‐Stringer, Sophie, O'Reilly, Molly, Witten, Anika, Fortmueller, Lisa, Lutz, Susanne, Kulle, Alexandra, Gkoutos, Georgios V., Pavlovic, Davor, Arlt, Wiebke, Lavery, Gareth G., Steeds, Richard, Gehmlich, Katja, Stoll, Monika, Kirchhof, Paulus, Fabritz, Larissa
Published in The Journal of physiology (01.09.2024)
Published in The Journal of physiology (01.09.2024)
Get full text
Journal Article
Filamin C dimerisation is regulated by HSPB7
Wang, Zihao, Cao, Guodong, Collier, Miranda P., Qiu, Xingyu, Broadway-Stringer, Sophie, Šaman, Dominik, Ng, Jediael Z. Y., Sen, Navoneel, Azad, Amar J., Hooper, Charlotte, Zimmermann, Johannes, McDonough, Michael A., Brem, Jürgen, Rabe, Patrick, Song, Haigang, Alderson, T. Reid, Schofield, Christopher J., Bolla, Jani R., Djinovic-Carugo, Kristina, Fürst, Dieter O., Warscheid, Bettina, Degiacomi, Matteo T., Allison, Timothy M., Hochberg, Georg K. A., Robinson, Carol V., Gehmlich, Katja, Benesch, Justin L. P.
Published in Nature communications (01.05.2025)
Published in Nature communications (01.05.2025)
Get full text
Journal Article
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten
Leinhos, Lisa, Robinson, Paul, Poloni, Giulia, Broadway-Stringer, Sophie, Beglov, Julia, Lokman, Adam B., Douglas, Gillian, Nuthay, Sajjad, Fonseka, Oveena, Schmid, Manuel, Singer, Evie, Hooper, Charlotte, Thomson, Kate, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Ormondroyd, Elizabeth, Toepfer, Christopher N., Davies, Benjamin, Redwood, Charles, Watkins, Hugh, Gehmlich, Katja
Published in Scientific reports (24.03.2025)
Published in Scientific reports (24.03.2025)
Get full text
Journal Article
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy
McKay, Eleanor J., Luijten, Ineke, Broadway-Stringer, Sophie, Thomson, Adrian, Weng, Xiong, Gehmlich, Katya, Gray, Gillian A., Semple, Robert K.
Published in Disease models & mechanisms (01.06.2024)
Published in Disease models & mechanisms (01.06.2024)
Get full text
Journal Article
Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant
Noureddine, Maya, Broadway-Stringer, Sophie, O'Shea, Christopher, Jones, Bethany A.I., Hayes, Abbie, Denning, Chris, Loughna, Siobhan, Mohammed, Fiyaz, Pavlovic, Davor, Gehmlich, Katja
Published in Journal of Molecular and Cellular Cardiology Plus (Online) (01.06.2025)
Published in Journal of Molecular and Cellular Cardiology Plus (Online) (01.06.2025)
Get full text
Journal Article
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2
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
Published in Cells (Basel, Switzerland) (24.02.2023)
Published in Cells (Basel, Switzerland) (24.02.2023)
Get full text
Journal Article
BS22 How does filamin C sense mechanical strain?
Gehmlich, Katja, Nuthay, Sajjad, Broadway-Stringer, Sophie
Published in Heart (British Cardiac Society) (01.06.2024)
Published in Heart (British Cardiac Society) (01.06.2024)
Get full text
Journal Article
Functional analysis of a FLNC missense variant associated with hypertrophic cardiomyopathy
Azad, Amar J., Jiang, He, Hooper, Charlotte, Broadway-Stringer, Sophie, Steeples, Violetta, Davies, Benjamin, Watkins, Hugh, Gehmlich, Katja
Published in Journal of molecular and cellular cardiology (31.12.2022)
Published in Journal of molecular and cellular cardiology (31.12.2022)
Get full text
Journal Article
Maternal hemodynamic changes in murine models of Preeclampsia
Correia, Yolanda, Tay, Re Ea, Broadway-Stringer, Sophie, Ahmad, Shakil, Wang, Keqing
Published in Placenta (Eastbourne) (01.09.2021)
Published in Placenta (Eastbourne) (01.09.2021)
Get full text
Journal Article
Small change, big impact: A Z-disc missense genetic variant causes dramatic morphological changes in the embryonic heart
Jiang, He, Kalisch-Smith, Jacinta, Sparrow, Duncan, Broadway-Stringer, Sophie, Wadmore, Kirsty, Hooper, Charlotte, Ehler, Elisabeth, Gautel, Mathias, Davies, Benjamin, Watkins, Hugh, Gehmlich, Katja
Published in Journal of molecular and cellular cardiology (31.12.2022)
Published in Journal of molecular and cellular cardiology (31.12.2022)
Get full text
Journal Article
The Scn5a gain of function variant M1875T leads to cardiac hypertrophy in mature mice
Broadway-Stringer, Sophie, Sommerfeld, L.C., O'Reilly, M., Andaleeb, S., Kabir, Syeeda, Statsny, D., Fortmueller, L., Gehmlich, Katja, Skryabin, B.V., Kirchhof, Paulus, Fabritz, Larissa
Published in Journal of molecular and cellular cardiology (31.12.2022)
Published in Journal of molecular and cellular cardiology (31.12.2022)
Get full text
Journal Article
BS30 Crucial functions of alpha-actinin2 in the embryonic heart
Gehmlich, Katja, Jiang, Austin (He), Wadmore, Kirsty, Hooper, Charlotte, Ehler, Elisabeth, Broadway-Stringer, Sophie, Kalisch-Smith, Jacinta, Sparrow, Duncan, Davies, Benjamin, Watkins, Hugh
Published in Heart (British Cardiac Society) (01.06.2022)
Published in Heart (British Cardiac Society) (01.06.2022)
Get full text
Journal Article
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in IACTN2/I
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
Published in Cells (Basel, Switzerland) (01.02.2023)
Published in Cells (Basel, Switzerland) (01.02.2023)
Get full text
Journal Article
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten
Leinhos, Lisa, Robinson, Paul, Poloni, Giulia, Broadway-Stringer, Sophie, Beglov, Julia, Lokman, Adam B., Douglas, Gillian, Nuthay, Sajjad, Fonseka, Oveena, Schmid, Manuel, Singer, Evie, Hooper, Charlotte, Thomson, Kate, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Ormondroyd, Elizabeth, Toepfer, Christopher N., Davies, Benjamin, Redwood, Charles, Watkins, Hugh, Gehmlich, Katja
Published in bioRxiv (30.09.2024)
Published in bioRxiv (30.09.2024)
Get full text
Paper
Cardiac stress leads to regulation of Filamin C dimerisation via an ancient phosphorylation-modulated interaction with HSPB7
Wang, Zihao, Cao, Guodong, Collier, Miranda P, Qiu, Xingyu, Broadway-Stringer, Sophie, Saman, Dominik, Ng, Jediael Zy, Sen, Navoneel, Azad, Amar J, Hooper, Charlotte, Zimmermann, Johannes, Mcdonough, Michael, Brem, Juergen, Rabe, Patrick, Song, Haigang, T Reid Alderson, Schofield, Christopher J, Bolla, Jani R, Djinnovic-Carugo, Kristina, Fuerst, Dieter, Warscheid, Bettina, Degiacomi, Matteo T, Allison, Timothy M, Georg Ka Hochberg, Robinson, Carol V, Gehmlich, Katja, Benesch, Justin Lp
Published in bioRxiv (05.01.2024)
Published in bioRxiv (05.01.2024)
Get full text
Paper
Increased early sodium current causes familial atrial fibrillation and dampens effect of flecainide
O'reilly, Molly, Sommerfeld, Laura Charlotte, O'shea, Christopher, Broadway-Stringer, Sophie, Andaleeb, Sosan, Jasmeet Singh Reyat, Kabir, Syeda Nashitha, Malinova, Antonia, Delbue, Deborah, tmueller, Lisa, Gehmlich, Katja, Pavlovic, Davor, Skryabin, Boris V, Holmes, Andrew P, Kirchhof, Paulus, Fabritz, Larissa
Published in bioRxiv (09.04.2022)
Published in bioRxiv (09.04.2022)
Get full text
Paper