Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Jason D. Heaney"'
Autor:
Sangappa B. Chadchan, Pooja Popli, Zian Liao, Eryk Andreas, Michelle Dias, Tianyuan Wang, Stephanie J. Gunderson, Patricia T. Jimenez, Denise G. Lanza, Rainer B. Lanz, Charles E. Foulds, Diana Monsivais, Francesco J. DeMayo, Hari Krishna Yalamanchili, Emily S. Jungheim, Jason D. Heaney, John P. Lydon, Kelle H. Moley, Bert W. O’Malley, Ramakrishna Kommagani
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Cellular responses to the steroid hormones, estrogen (E2), and progesterone (P4) are governed by their cognate receptor’s transcriptional output. However, the feed-forward mechanisms that shape cell-type-specific transcriptional fulcrums f
Externí odkaz:
https://doaj.org/article/116dab8ea7be413e937452d604e585f3
Autor:
Kevin A. Peterson, Sam Khalouei, Nour Hanafi, Joshua A. Wood, Denise G. Lanza, Lauri G. Lintott, Brandon J. Willis, John R. Seavitt, Robert E. Braun, Mary E. Dickinson, Jacqueline K. White, K. C. Kent Lloyd, Jason D. Heaney, Stephen A. Murray, Arun Ramani, Lauryl M. J. Nutter
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)
Abstract Genome editing with CRISPR-associated (Cas) proteins holds exceptional promise for “correcting” variants causing genetic disease. To realize this promise, off-target genomic changes cannot occur during the editing process. Here, we use w
Externí odkaz:
https://doaj.org/article/f7798291f4934fd091966e0b3ee6f881
Autor:
Justine M. Chee, Louise Lanoue, Dave Clary, Kendall Higgins, Lynette Bower, Ann Flenniken, Ruolin Guo, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, H.-J. Genie Chin, Mary E. Dickinson, Chih-Wei Hsu, Michael Dobbie, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Fabio Mammano, Lauryl M. J. Nutter, Helen Parkinson, Chuan Qin, Toshi Shiroishi, Radislav Sedlacek, J-K Seong, Ying Xu, The International Mouse Phenotyping Consortium, Brian Brooks, Colin McKerlie, K. C. Kent Lloyd, Henrik Westerberg, Ala Moshiri
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be herita
Externí odkaz:
https://doaj.org/article/f36d8250a6ce4896a0f38551711ec1ef
Autor:
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or
Externí odkaz:
https://doaj.org/article/c0d5d5cc412449dba2430740f3a4e375
Autor:
Bridget M. Stroup, Xiaohui Li, Sara Ho, Haonan Zhouyao, Yuqing Chen, Safa Ani, Brian Dawson, Zixue Jin, Ronit Marom, Ming-Ming Jiang, Isabel Lorenzo, Daniel Rosen, Denise Lanza, Nathalie Aceves, Sara Koh, John R. Seavitt, Jason D. Heaney, Brendan Lee, Lindsay C. Burrage
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Externí odkaz:
https://doaj.org/article/7e8f8ca8c12643038a96eb00213c0ada
Autor:
Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B. Van den Veyver, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, Robert E. Braun, Jacqueline K. White, Amie K. Creighton, Valerie Laurin, Ruolin Guo, Dawei Qu, Sara Wells, James Cleak, Rosie Bunton-Stasyshyn, Michelle Stewart, Jackie Harrisson, Jeremy Mason, Hamed Haseli Mashhadi, Helen Parkinson, Ann-Marie Mallon, International Mouse Phenotyping Consortium, Genomics England Research Consortium, Damian Smedley
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
Abstract Background The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated with disease is p
Externí odkaz:
https://doaj.org/article/412d46fbccfd45569d9db0ede072d45d
Autor:
Reka Lorincz, Aluet Borrego Alvarez, Christopher J. Walkey, Samir A. Mendonça, Zhi Hong Lu, Alexa E. Martinez, Cecilia Ljungberg, Jason D. Heaney, William R. Lagor, David T. Curiel
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 158, Iss , Pp 114189- (2023)
Biological applications deriving from the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 site-specific nuclease system continue to impact and accelerate gene therapy strategies. Safe and effective in vivo co-delivery of the C
Externí odkaz:
https://doaj.org/article/f5ae3e7584154702b3dd6f4928ce5c2c
Autor:
Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Rebecca L. Maywald, Edwina Popek, Jason D. Heaney, Paweł Stankiewicz
Publikováno v:
Respiratory Research, Vol 22, Iss 1, Pp 1-11 (2021)
Abstract Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal congenital lung disorder in neonates characterized by severe progressive respiratory failure and refractory pulmonary hypertension, result
Externí odkaz:
https://doaj.org/article/0a9290321c82455397478f38d62e10f4
Autor:
K. C. Kent Lloyd, David J. Adams, Gareth Baynam, Arthur L. Beaudet, Fatima Bosch, Kym M. Boycott, Robert E. Braun, Mark Caulfield, Ronald Cohn, Mary E. Dickinson, Michael S. Dobbie, Ann M. Flenniken, Paul Flicek, Sanjeev Galande, Xiang Gao, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabě de Angelis, James R. Lupski, Stanislas Lyonnet, Ann-Marie Mallon, Fabio Mammano, Calum A. MacRae, Roderick McInnes, Colin McKerlie, Terrence F. Meehan, Stephen A. Murray, Lauryl M. J. Nutter, Yuichi Obata, Helen Parkinson, Michael S. Pepper, Radislav Sedlacek, Je Kyung Seong, Toshihiko Shiroishi, Damian Smedley, Glauco Tocchini-Valentini, David Valle, Chi-Kuang Leo Wang, Sara Wells, Jacqueline White, Wolfgang Wurst, Ying Xu, Steve D. M. Brown
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-6 (2020)
Externí odkaz:
https://doaj.org/article/c65542f19b604102aa0a0346d13081d3
Autor:
Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bucan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valerie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J. Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J. Adams, John R. Seavitt, Glauco Tocchini-Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Herault, Martin Hrabě de Angelis, Ann-Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, The Genomics England Research Consortium, The International Mouse Phenotyping Consortium
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) ca
Externí odkaz:
https://doaj.org/article/38973450f49d45729ee9836b3968bc61