5 results on '"Trembath, Richard C."'
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2. An LGR6 frameshift variant abrogates receptor expression on select leukocyte subsets and is associated with viral infections
- Author
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Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Asgar, Omar, Ashraf, Samina, Bidi, Saeed, Breen, Gerome, Broster, James, Chaudhary, Shabana, Chung, Raymond, Clinch, Megan, Collier, David, Colligan, Grainne, Curtis, Charles J., Deloukas, Panos, Durham, Ceri, Durrani, Faiza, Eto, Fabiola, Finer, Sarah, Gafton, Joseph, Angel Garcia, Ana Cristina, Griffiths, Chris, Harvey, Joanne, van Heel, David A., Heng, Teng, Hodgson, Sam, Huang, Qin Qin, Hurles, Matt, Hunt, Karen A, Hussain, Shapna, Islam, Kamrul, Iyer, Vivek, Jacobs, Benjamin M., Khan, Ahsan, Langenberg, Claudia, Lavery, Cath, Lee, Sang Hyuck, MacArthur, Daniel, Malik, Sidra, Malawsky, Daniel, Martin, Hilary, Mason, Dan, Mathur, Rohini, Mazid, Mohammed Bodrul, McDermott, John, Morton, Caroline, Newman, Bill, Owor, Elizabeth, Qureshi, Asma, Ramachandrappa, Shwetha, Raza, Mehru, Russell, Jessry, Safa, Nishat, Samuel, Miriam, Simpson, Michael, Solly, John, Spreckley, Marie, Stow, Daniel, Taylor, Michael, Trembath, Richard C., Tricker, Karen, Walter, Klaudia, Winckley, Caroline, Wood, Suzanne, Wright, John, Zengeya, Ishevanhu, Zöllner, Julia, Gomez, Esteban A., De Matteis, Roberta, Udomjarumanee, Palita, Munroe, Patricia B., and Dalli, Jesmond
- Published
- 2024
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3. Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension
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Tai, Yi-Yin, primary, Yu, Qiujun, additional, Tang, Ying, additional, Sun, Wei, additional, Kelly, Neil J., additional, Okawa, Satoshi, additional, Zhao, Jingsi, additional, Schwantes-An, Tae-Hwi, additional, Lacoux, Caroline, additional, Torrino, Stephanie, additional, Al Aaraj, Yassmin, additional, El Khoury, Wadih, additional, Negi, Vinny, additional, Liu, Mingjun, additional, Corey, Catherine G., additional, Belmonte, Frances, additional, Vargas, Sara O., additional, Schwartz, Brian, additional, Bhat, Bal, additional, Chau, B. Nelson, additional, Karnes, Jason H., additional, Satoh, Taijyu, additional, Barndt, Robert J., additional, Wu, Haodi, additional, Parikh, Victoria N., additional, Wang, Jianrong, additional, Zhang, Yingze, additional, McNamara, Dennis, additional, Li, Gang, additional, Speyer, Gil, additional, Wang, Bing, additional, Shiva, Sruti, additional, Kaufman, Brett, additional, Kim, Seungchan, additional, Gomez, Delphine, additional, Mari, Bernard, additional, Cho, Michael H., additional, Boueiz, Adel, additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Trembath, Richard C., additional, Sitbon, Olivier, additional, Humbert, Marc, additional, Graf, Stefan, additional, Morrell, Nicholas W., additional, Rhodes, Christopher J., additional, Wilkins, Martin R., additional, Nouraie, Mehdi, additional, Nichols, William C., additional, Desai, Ankit A., additional, Bertero, Thomas, additional, and Chan, Stephen Y., additional
- Published
- 2024
- Full Text
- View/download PDF
4. LGR6frameshift variant abrogates receptor expression on select leukocyte subsets and associates with viral infections
- Author
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Gomez, Esteban A., De Matteis, Roberta, Udomjarumanee, Palita, Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Asgar, Omar, Ashraf, Samina, Bidi, Saeed, Breen, Gerome, Broster, James, Chung, Raymond, Collier, David, Curtis, Charles J, Chaudhary, Shabana, Clinch, Megan, Colligan, Grainne, Deloukas, Panos, Durham, Ceri, Durrani, Faiza, Eto, Fabiola, Finer, Sarah, Gafton, Joseph, Angel, Ana, Griffiths, Chris, Harvey, Joanne, Heng, Teng, Hodgson, Sam, Huang, Qin Qin, Hurles, Matt, Hunt, Karen A, Hussain, Shapna, Islam, Kamrul, Iyer, Vivek, Jacobs, Benjamin M, Khan, Ahsan, Langenberg, Claudia, Lavery, Cath, Lee, Sang Hyuck, MacArthur, Daniel, Malik, Sidra, Malawsky, Daniel, Martin, Hilary, Mason, Dan, Mathur, Rohini, Mazid, Mohammed Bodrul, McDermott, John, Morton, Caroline, Newman, Bill, Owor, Elizabeth, Qureshi, Asma, Ramachandrappa, Shwetha, Raza, Mehru, Russell, Jessry, Safa, Nishat, Samuel, Miriam, Simpson, Michael, Solly, John, Daniel Stow, Marie Spreckley., Taylor, Michael, Trembath, Richard C, Tricker, Karen, van Heel, David A, Walter, Klaudia, Winckley, Caroline, Wood, Suzanne, Wright, John, Zengeya, Ishevanhu, Zöllner, Julia, Munroe, Patricia B., and Dalli, Jesmond
- Abstract
•rs74355478 is linked with the ablation of LGR6 expression on neutrophils, monocytes and NK cells and loss of MaR1 activity on phagocytes•rs74355478 leads to altered immune responses to viruses and associates with increased incidence of viral infections at the population level
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- 2024
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5. Genetics and precision genomics approaches to pulmonary hypertension.
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Austin ED, Aldred MA, Alotaibi M, Gräf S, Nichols WC, Trembath RC, and Chung WK
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- Humans, Precision Medicine, Genetic Predisposition to Disease, Genomics, Hypertension, Pulmonary genetics, Genetic Testing
- Abstract
Considerable progress has been made in the genomics of pulmonary arterial hypertension (PAH) since the 6th World Symposium on Pulmonary Hypertension, with the identification of rare variants in several novel genes, as well as common variants that confer a modest increase in PAH risk. Gene and variant curation by an expert panel now provides a robust framework for knowing which genes to test and how to interpret variants in clinical practice. We recommend that genetic testing be offered to specific subgroups of symptomatic patients with PAH, and to children with certain types of group 3 pulmonary hypertension (PH). Testing of asymptomatic family members and the use of genetics in reproductive decision-making require the involvement of genetics experts. Large cohorts of PAH patients with biospecimens now exist and extension to non-group 1 PH has begun. However, these cohorts are largely of European origin; greater diversity will be essential to characterise the full extent of genomic variation contributing to PH risk and treatment responses. Other types of omics data are also being incorporated. Furthermore, to advance gene- and pathway-specific care and targeted therapies, gene-specific registries will be essential to support patients and their families and to lay the foundation for genetically informed clinical trials. This will require international outreach and collaboration between patients/families, clinicians and researchers. Ultimately, harmonisation of patient-derived biospecimens, clinical and omic information, and analytic approaches will advance the field., Competing Interests: Conflict of interest: E.D. Austin reports grants from NIH (R01FD007627; 1R01HL134802; T32HL160508; R01HL169859; R34HL173389; 5P01HL108800) and the Cardiovascular Medical Research Fund, payment or honoraria for lectures, presentations, manuscript writing or educational events from Acceleron, Inc., participation on a data safety monitoring board or advisory board with NIH, and leadership roles with PHA and TBX4Life. M. Alotaibi reports grants from NIH. M.A. Aldred reports grants from NHLBI and a leadership role with the International Consortium for Genetics Studies in PAH (PAH-ICON). S. Gräf reports a leadership role as Co-Chair of the International Consortium for Genetic Studies in Pulmonary (Arterial) Hypertension (P(A)H-ICON). W.C. Nichols reports grants from NIH/NHLBI. R.C. Trembath reports support for attending meetings from conference organisers. W.K. Chung has no potential conflicts of interest to disclose., (Copyright ©The authors 2024.)
- Published
- 2024
- Full Text
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