Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sreehari, Kalvakuri"'
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:
Lisa Elmén, Claudia B. Volpato, Anaïs Kervadec, Santiago Pineda, Sreehari Kalvakuri, Nakissa N. Alayari, Luisa Foco, Peter P. Pramstaller, Karen Ocorr, Alessandra Rossini, Anthony Cammarato, Alexandre R. Colas, Andrew A. Hicks, Rolf Bodmer
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
The identification of genetic variants that predispose individuals to cardiovascular disease and a better understanding of their targets would be highly advantageous. Genome-wide association studies have identified variants that associate with QT-int
Externí odkaz:
https://doaj.org/article/111907e034e04c50a593fa2c9ad5841c
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 6, Pp 577-589 (2015)
Loss of mitochondrial function often leads to neurodegeneration and is thought to be one of the underlying causes of neurodegenerative diseases such as Parkinson's disease (PD). However, the precise events linking mitochondrial dysfunction to neurona
Externí odkaz:
https://doaj.org/article/71fc619bdfcf494ea83d64caf75f5b98
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:
Santiago Pined, David G. Allen, Dirk F. van Helden, Sreehari Kalvakuri, Halina Dobrzyn, Christiana Leimena, Renee Johnson, Andrew Atkinson, Richard P. Harvey, Diane Fatkin, Gunjan Trived, Ann-Kristin Altekoester, Karen Ocorr, Peter C. M. Molenaar, Arie Jacoby, Charles D. Cox, Dennis L. Kuchar, Rolf Bodmer, Monique Ohanian, Inken G. Huttner, Georg Vogler, Magdalena Soka, Vesna Nikolova-Krstevski, Yue-Kun Ju, Adam P. Hill
BackgroundKCNMA1 encodes the α-subunit of the large-conductance Ca2+-activated K+ channel, KCa1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into the cardiac functions of KCa1.1 are limited and KCNMA1 has not been inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47d38efcb107ad676586738e523b836b
https://doi.org/10.1101/2020.06.28.176495
https://doi.org/10.1101/2020.06.28.176495
Autor:
Paul Kruszka, Sreehari Kalvakuri, Austin Larson, Dong Li, Inge van Outersterp, Florence Demurger, Ian Hayes, F. Lucy Raymond, Lauren J. Massingham, Claudia A. L. Ruivenkamp, Ian D. Krantz, Kendra Brunet, Nicole Revencu, Maaike Vreeburg, Donatella Milani, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Maximilian Muenke, Sinje Geuer, Candace Gamble, Rolf Bodmer, Hanka Venselaar, Elke de Boer, Sarina G. Kant, Dilys Weijers, Arjan P.M. de Brouwer, Machteld M. Oud, Maria Iascone, Christopher C. Griffith, Frédéric Tran Mau-Them, Karin Weiss, Megan T. Cho, Ayesha Ahmad, James A. Bartley, Nina Powell Hamilton, Lenika De Simone, George E. Hoganson, Lucie Evenepoel, Simone Kersten, Daniel L. Polla, Himanshu Goel, Antonio Vitobello, Rachel Fisher, Arthur Sorlin, Sébastien Moutton, Myrthe van den Born, Hilary J. Vernon, Michael Kwint, Kaitlyn Burns, Anna Ruiz, Kirsty McWalter, Jenny Morton, Jennifer Schwab, Elizabeth J. Bhoj, Philippe Christophe, Hans van Bokhoven, Elisabeth Gabau, Kimberly M. Nugent, Jill R. Murrell, Thierry Billette de Villemeur, Kathleen Wood, Alexandra Afenjar, Amber Begtrup, Chanika Phornphutkul, Sarah E. Raible, Melde Witmond, Perrine Charles, Claudia Soler-Alfonso, D. Isum Ward, Marjolaine Willems, Boris Keren, Julian Delanne
Publikováno v:
Am J Hum Genet
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
American Journal of Human Genetics, 107(1), 164-172. Cell Press
American Journal of Human Genetics, 107(1), 164-172. CELL PRESS
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 164-172
American Journal of Human Genetics, 107, 1, pp. 164-172
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
American Journal of Human Genetics, 107(1), 164-172. Cell Press
American Journal of Human Genetics, 107(1), 164-172. CELL PRESS
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 164-172
American Journal of Human Genetics, 107, 1, pp. 164-172
Contains fulltext : 220423.pdf (Publisher’s version ) (Closed access) CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006da9edc9adc505442f388151f9f1a2
https://pubmed.ncbi.nlm.nih.gov/32553196
https://pubmed.ncbi.nlm.nih.gov/32553196
Autor:
Anaïs Kervadec, Karen Ocorr, Sreehari Kalvakuri, Rolf Bodmer, Santiago Pineda, Andrew A. Hicks, Claudia B. Volpato, Anthony Cammarato, Lisa Elmén, Peter P. Pramstaller, Nakissa N. Alayari, Alexandre R. Colas, Luisa Foco, Alessandra Rossini
Publikováno v:
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
The identification of genetic variants that predispose individuals to cardiovascular disease and a better understanding of their targets would be highly advantageous. Genome-wide association studies have identified variants that associate with QT-int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deab6cf2ced067430a1ffaab85eccf26
https://pubmed.ncbi.nlm.nih.gov/32471864
https://pubmed.ncbi.nlm.nih.gov/32471864
Autor:
Andrew A. Hicks, Alessandra Zanon, Michaela Trilck, Rolf Bodmer, Valentina Giorgio, Franziska Rudolph, Christine Klein, Philip Seibler, Nancy Stanslowsky, Christine Schwienbacher, Sreehari Kalvakuri, Peter P. Pramstaller, Alexandros A. Lavdas, Marianna Guida, Anne Grünewald, Florian Wegner, Irene Pichler, Luisa Foco, Aleksandar Rakovic, Alice Serafin
Publikováno v:
Human Molecular Genetics. 26:2412-2425
Mutations in the Parkin gene (PARK2) have been linked to a recessive form of Parkinson’s disease (PD) characterized by the loss of dopaminergic neurons in the substantia nigra. Deficiencies of mitochondrial respiratory chain complex I activity have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc2ee2e2b640e8b5a01efaa1f7f9fca3
https://doi.org/10.1093/hmg/ddx132
https://doi.org/10.1093/hmg/ddx132