Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Katja, Birker"'
Autor:
Katja Birker, Shuchao Ge, Natalie J Kirkland, Jeanne L Theis, James Marchant, Zachary C Fogarty, Maria A Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J Engler, Karen Ocorr, Timothy J Nelson, Alexandre R Colas, Timothy M Olson, Georg Vogler, Rolf Bodmer
Publikováno v:
eLife, Vol 12 (2023)
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We performed whole genome seq
Externí odkaz:
https://doaj.org/article/295c6b7f92104c7bb7e08f101b5ff3af
Autor:
Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos, Katja Birker, Jared M Evans, Megan M O'Byrne, Zachary C Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Rolf Bodmer
Publikováno v:
eLife, Vol 9 (2020)
Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-g
Externí odkaz:
https://doaj.org/article/7b02a3ed48a047c4bd8549ffe623c1c1
Autor:
Tanja Nielsen, Anaïs Kervadec, Maria A. Missinato, Michaela Lynott, Xin-Xin I. Zeng, Marie Berenguer, Stanley M. Walls, Analyne Schroeder, Katja Birker, Greg Duester, Paul Grossfeld, Timothy J. Nelson, Timothy M. Olson, Karen Ocorr, Rolf Bodmer, Jeanne L. Theis, Georg Vogler, Alexandre R. Colas
Hypoplastic left heart syndrome (HLHS) is the most lethal congenital heart disease (CHD). The pathogenesis of HLHS is poorly understood and due to the likely oligogenic complexity of the disease, definitive HLHS-causing genes have not yet been identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88d332e5aa3bd31779e9bf74cf83b82f
https://doi.org/10.1101/2022.07.01.22277112
https://doi.org/10.1101/2022.07.01.22277112
Autor:
Katja Birker, Natalie J. Kirkland, Jeanne L. Theis, Zachary C. Fogarty, Maria Azzurra Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J. Engler, Karen Ocorr, Timothy J. Nelson, Alexandre R. Colas, Timothy M. Olson, Georg Vogler, Rolf Bodmer
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We therefore performed whole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5de9615e5fb84c5ca1ef68ab72c2a613
https://doi.org/10.1101/2022.06.13.22276366
https://doi.org/10.1101/2022.06.13.22276366
Autor:
Georg Vogler, Diane Fatkin, Katja Birker, Christiana Leimena, Ann-Kristin Altekoester, Peter C. M. Molenaar, Karen Ocorr, David G. Allen, Richard P. Harvey, Halina Dobrzynski, Inken G. Huttner, Arie Jacoby, Magdalena Soka, Renee Johnson, Andrew Atkinson, Vesna Nikolova-Krstevski, Adam P. Hill, Rolf Bodmer, Yue-Kun Ju, Sreehari Kalvakuri, Santiago Pineda, Dirk F. van Helden, Charles D. Cox, Dennis L. Kuchar, Monique Ohanian, Gunjan Trivedi
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Background: KCNMA1 encodes the α-subunit of the large-conductance Ca 2+ -activated K + channel, K Ca 1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into the cardiac functions of K Ca 1.1 are limited, and KCNMA1 has no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01612d0422981dad9c335de2df839668
https://doi.org/10.1161/circgen.120.003144
https://doi.org/10.1161/circgen.120.003144
Autor:
Santiago, Pineda, Vesna, Nikolova-Krstevski, Christiana, Leimena, Andrew J, Atkinson, Ann-Kristin, Altekoester, Charles D, Cox, Arie, Jacoby, Inken G, Huttner, Yue-Kun, Ju, Magdalena, Soka, Monique, Ohanian, Gunjan, Trivedi, Sreehari, Kalvakuri, Katja, Birker, Renee, Johnson, Peter, Molenaar, Dennis, Kuchar, David G, Allen, Dirk F, van Helden, Richard P, Harvey, Adam P, Hill, Rolf, Bodmer, Georg, Vogler, Halina, Dobrzynski, Karen, Ocorr, Diane, Fatkin
Publikováno v:
Circ Genom Precis Med
BACKGROUND: KCNMA1 encodes the α-subunit of the large-conductance Ca(2+)-activated K(+) channel, K(Ca)1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into the cardiac functions of K(Ca)1.1 are limited, and KCNMA1 has n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::945820691bcdde1e027da6e9bb57eee1
https://pubmed.ncbi.nlm.nih.gov/33629867
https://pubmed.ncbi.nlm.nih.gov/33629867
Autor:
Megan M. O’Byrne, Anaïs Kervadec, Almudena Martinez-Fernandez, Zeng Xi, Rolf Bodmer, Katja Birker, Timothy J. Nelson, Xing Li, Paul Grossfeld, Andre Terzic, Georg Vogler, Jeanne L. Theis, Stanley M. Walls, Karen Ocorr, Jared M. Evans, Alexandre R. Colas, James N. Kezos, Zachary C. Fogarty, Timothy M. Olson, Tanja Nielsen, Maria A. Missinato
Publikováno v:
eLife, Vol 9 (2020)
eLife
eLife
Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6733953504ddf00bd990ea2850cb21
https://elifesciences.org/articles/59554
https://elifesciences.org/articles/59554
Autor:
Paul Grossfeld, Maria A. Missinato, Megan M. O’Byrne, Almudena Martinez-Fernandez, Katja Birker, Jared M. Evans, James N. Kezos, Anaïs Kervadec, Rolf Bodmer, Georg Vogler, Timothy J. Nelson, Jeanne L. Theis, Zeng Xi, Zachary C. Fogarty, Timothy M. Olson, Karen Ocorr, Tanja Nielsen, Alexandre R. Colas, Andre Terzic, Xing Li, Stanley M. Walls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15b37de805b655e0c862c0628baae62f
https://doi.org/10.7554/elife.59554.sa2
https://doi.org/10.7554/elife.59554.sa2
Autor:
Xing Li, Jared M. Evans, Karen Ocorr, Stanley M. Walls, Georg Vogler, James N. Kezos, Rolf Bodmer, Almudena Martinez-Fernandez, Katja Birker, Megan M. O’Byrne, Andre Terzic, Paul Grossfeld, Jeanne L. Theis, Timothy J. Nelson, Tanja Nielsen, Maria A. Missinato, Zeng Xi, Alexandre R. Colas, Zachary C. Fogarty, Timothy M. Olson, Anaïs Kervadec
Congenital heart diseases (CHD), such as hypoplastic left heart syndrome (HLHS), are considered to have complex genetic underpinnings that are poorly understood. Here, an integrated multi-disciplinary approach was applied to identify novel genes and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc17ad709ea595a8fe48380da136476a
https://doi.org/10.1101/835439
https://doi.org/10.1101/835439