Publications

A novel missense mutation in TNNI3K causes recessively inherited cardiac conduction disease in a consanguineous Pakistani family

Genes, Publications

Ramzan S, Tennstedt S, Tariq M, Khan S, Ul Ayan HN, Ali A, Munz M,  Thiele H, Korejo AA, Mughal AR, Jamal SZ, Nürnberg P, Baig SM, Erdmann J, Ahmad I.

Genes 2021, 12(8), 1282

https://doi.org/10.3390/genes12081282

A novel missense mutation in TNNI3K causes recessively inherited cardiac conduction disease in a consanguineous Pakistani family Read More »

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

Clin Genet, Publications

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS.

Clin Genet. 2021 Jul 16. doi: 10.1111/cge.14028.

https://pubmed.ncbi.nlm.nih.gov/34270086/

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome Read More »

The C5a/C5a receptor 1 axis controls tissue neovascularization through CXCL4 release from platelets

Nat Commun, Publications

Nording H, Baron L, Haberthür D, Emschermann F, Mezger M, Sauter M, Sauter R, Patzelt J, Knoepp K, Nording A, Meusel M, Meyer-Saraei R, Hlushchuk R, Sedding D, Borst O, Eitel I, Karsten CM, Feil R, Pichler B, Erdmann J, Verschoor A, Chavakis E, Chavakis T, von Hundelshausen P, Köhl J, Gawaz M, Langer HF.

Nat Commun. 2021 Jun 7;12(1):3352. doi: 10.1038/s41467-021-23499-w.

https://pubmed.ncbi.nlm.nih.gov/34099640/

The C5a/C5a receptor 1 axis controls tissue neovascularization through CXCL4 release from platelets Read More »

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

medrxiv, Publications

Aragam KA, Jiang T, Anuj Goel, Stavroula Kanoni, Brooke N Wolford, Elle M Weeks, Minxian Wang, George Hindy, Wei Zhou, Christopher Grace, Carolina Roselli, Nicholas A Marston, Frederick K Kamanu, Ida Surakka, Loreto Munoz Venegas, Paul Sherliker, Satoshi Koyama, Kazuyoshi Ishigaki, Bjorn O Asvold, Michael R Brown, Ben Brumpton, Paul S de Vries, Olga Giannakopoulou, Panagiota Giardoglou, Daniel F Gudbjartsson, Ulrich Guldener, Syed M. Ijlal Haider, Anna Helgadottir, Maysson Ibrahim, Adnan Kastrati, Thorsten Kessler, Ling Li, Lijiang Ma, Thomas Meitinger, Soren Mucha, Matthias Munz, Federico Murgia, Jonas B Nielsen, Markus M Nothen, Shichao Pang, Tobias Reinberger, Gudmar Thorleifsson, Moritz von Scheidt, Jacob K Ulirsch, EPIC-CVD Consortium, Biobank Japan, David O Arnar, Deepak S Atri, Noel P Burtt, Maria C Costanzo, Jason Flannick, Rajat M Gupta, Kaoru Ito, Dong-Keun Jang, Yoichiro Kamatani, Amit V Khera, Issei Komuro, Iftikhar J Kullo, Luca A Lotta, Christopher P Nelson, Robert Roberts, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Thomas R Webb, Aris Baras, Johan LM Bjorkegren, Eric Boerwinkle, George Dedoussis, Hilma Holm, Kristian Hveem, Olle Melander, Alanna C Morrison, Marju Orho-Melander, Loukianos S Rallidis, Arno Ruusalepp, Marc S Sabatine, Kari Stefansson, Pierre Zalloua, Patrick T Ellinor, Martin Farrall, John Danesh, Christian T Ruff, Hilary K Finucane, Jemma C Hopewell, Robert Clarke, Jeanette Erdmann, Nilesh J Samani, Heribert Schunkert, Hugh Watkins, Cristen J Willer, Panos Deloukas, Sekar Kathiresan, Adam S Butterworth, on behalf of the CARDIoGRAMplusC4D Consortium

medRxiv 2021.05.24.21257377; doi: https://doi.org/10.1101/2021.05.24.21257377

https://doi.org/10.1101/2021.05.24.21257377

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Read More »

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans

Orphanet Journal of Rare Diseases, Publications

Schwarm C, Gola D, Holtsche MM, Dieterich A, Bhandari A, Freitag M, Nürnberg P, Toliat M, Lieb W, Wittig M, Franke A, Worm M, Sticherling M, Ehrchen J, Günther C, Gläser R, Peitsch WK, Sárdy M, Eming R, Hertl M, Benoit S, Goebeler M, Pföhler C, Kunz M, Kreuter A, van Beek N, Erdmann J, Busch H, Zillikens D, Sadik CD, Hirose M, König IR, Schmidt E, Ibrahim SM; German AIBD Study Group.

Orphanet J Rare Dis. 2021 May 19;16(1):228. doi: 10.1186/s13023-021-01863-9.

https://pubmed.ncbi.nlm.nih.gov/34011352/

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans Read More »

Cis-epistasis at the LPA locus and risk of cardiovascular diseases

Cardiovasc Res, Publications

Zeng L, Moser S, Mirza-Schreiber N, Lamina C, Coassin S, Nelson CP, Annilo T, Franzén O, Kleber ME, Mack S, Andlauer TFM, Jiang B, Stiller B, Li L, Willenborg C, Munz M, Kessler T, Kastrati A, Laugwitz KL, Erdmann J, Moebus S, Nöthen MM, Peters A, Strauch K, Müller-Nurasyid M, Gieger C, Meitinger T, Steinhagen-Thiessen E, März W, Metspalu A, Björkegren JLM, Samani NJ, Kronenberg F, Müller-Myhsok B, Schunkert H.

Cardiovasc Res. 2021 Apr 20:cvab136. doi: 10.1093/cvr/cvab136.

https://pubmed.ncbi.nlm.nih.gov/33878186/

Cis-epistasis at the LPA locus and risk of cardiovascular diseases Read More »

A proteomic atlas of the neointima identifies novel druggable targets for preventive therapy

Eur Heart J, Publications

Wierer M, Werner J, Wobst J, Kastrati A, Cepele G, Aherrahrou R, Sager HB, Erdmann J, Dichgans M, Flockerzi V, Civelek M,  Dietrich A, Mann M, Schunkert H, Kessler T.

European Heart Journal, ehab140, https://doi.org/10.1093/eurheartj/ehab140

https://pubmed.ncbi.nlm.nih.gov/33829256/

A proteomic atlas of the neointima identifies novel druggable targets for preventive therapy Read More »

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