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Autor:
Emily M. Spelbrink, Tanya L. Brown, Elise Brimble, Kirsten A. Blanco, Kimberly L. Nye, Brenda E. Porter
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical rec
Externí odkaz:
https://doaj.org/article/f377deb466ff4b808940718c42dfbf9a
Publikováno v:
Metabolites, Vol 11, Iss 11, p 746 (2021)
We were interested in elucidating the non-neurologic health of patients with autosomal recessive SLC13A5 Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neu
Externí odkaz:
https://doaj.org/article/295c0f16012f45c28b1cd63939c1d7cc
Autor:
E L, Nye
Publikováno v:
Veterinary heritage : bulletin of the American Veterinary History Society. 12(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7b8bed66009afb6b5ee3a85f80c19708
https://pubmed.ncbi.nlm.nih.gov/11622180
https://pubmed.ncbi.nlm.nih.gov/11622180
Autor:
Samra Turajlic, Mariam Jamal-Hanjani, Charles Swanton, Kevin Litchfield, James Larkin, Anna Green, Ula Mahadeva, Ruby Stewart, Lisa Pickering, Andrew J.S. Furness, Kate Young, Emma L. Nye, Gordon W.H. Stamp, Ian Proctor, Mary Falzon, David A. Moore, Miriam Mitchison, Elaine Borg, Cristina Naceur-Lombardelli, Jun Murai, Maise Al Bakir, Nicholas McGranahan, Ariana Huebner, Hang Xu, Aljosja Rogiers, Robert Mason, Joanna Lynch, Husayn Ahmed Pallikonda, Camille L. Gerard, Max Emmerich, Anne-Laure Cattin, Molly O'Flaherty, Charlotte Lewis, Justine Korteweg, Aida Murra, Jennifer Biano, Denise Kelly, Lauren Terry, Mary Mangwende, Sarah Vaughan, Sarah Sarker, Kayleigh Kelly, Kema Peat, Lauren Grostate, Karla Lingard, Zayd Tippu, Andreas M. Schmitt, Charlotte Spencer, Diana C.J. Spierings, Rene Wardenaar, Hilda van den Bos, Floris Foijer, Jaime Nobbs, Peta Hughes, Christina Messiou, Alexandra Renn, Nikki Hunter, Eleanor Carlyle, Kim Edmonds, Lewis Au, Elisa Piperni, Maria Goicoechea, Fiona Byrne, Benjamin Shum, Scott T.C. Shepherd, Desiree Schnidrig, Andrew Rowan, Irene Lobon, Alexander Coulton, Lavinia Spain
Understanding the evolutionary pathways to metastasis and resistance to immune-checkpoint inhibitors (ICI) in melanoma is critical for improving outcomes. Here, we present the most comprehensive intrapatient metastatic melanoma dataset assembled to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::682740b5baa2c65d53e95cea4595dfad
https://doi.org/10.1158/2159-8290.c.6649132
https://doi.org/10.1158/2159-8290.c.6649132
Autor:
Samra Turajlic, Mariam Jamal-Hanjani, Charles Swanton, Kevin Litchfield, James Larkin, Anna Green, Ula Mahadeva, Ruby Stewart, Lisa Pickering, Andrew J.S. Furness, Kate Young, Emma L. Nye, Gordon W.H. Stamp, Ian Proctor, Mary Falzon, David A. Moore, Miriam Mitchison, Elaine Borg, Cristina Naceur-Lombardelli, Jun Murai, Maise Al Bakir, Nicholas McGranahan, Ariana Huebner, Hang Xu, Aljosja Rogiers, Robert Mason, Joanna Lynch, Husayn Ahmed Pallikonda, Camille L. Gerard, Max Emmerich, Anne-Laure Cattin, Molly O'Flaherty, Charlotte Lewis, Justine Korteweg, Aida Murra, Jennifer Biano, Denise Kelly, Lauren Terry, Mary Mangwende, Sarah Vaughan, Sarah Sarker, Kayleigh Kelly, Kema Peat, Lauren Grostate, Karla Lingard, Zayd Tippu, Andreas M. Schmitt, Charlotte Spencer, Diana C.J. Spierings, Rene Wardenaar, Hilda van den Bos, Floris Foijer, Jaime Nobbs, Peta Hughes, Christina Messiou, Alexandra Renn, Nikki Hunter, Eleanor Carlyle, Kim Edmonds, Lewis Au, Elisa Piperni, Maria Goicoechea, Fiona Byrne, Benjamin Shum, Scott T.C. Shepherd, Desiree Schnidrig, Andrew Rowan, Irene Lobon, Alexander Coulton, Lavinia Spain
Supplementary figure 1: Cohort overview. Number of samples sequenced with whole exome, panel or whole RNA sequencing. Supplementary figure 2: Phylogeny and WGD events in CRUKP1047. Supplementary figure 3: Ploidy and SCNA burden. Supplementary figure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f79ce57c107fe296590c39e19d1d2e6
https://doi.org/10.1158/2159-8290.22841335.v1
https://doi.org/10.1158/2159-8290.22841335.v1
Autor:
Samra Turajlic, Mariam Jamal-Hanjani, Charles Swanton, Kevin Litchfield, James Larkin, Anna Green, Ula Mahadeva, Ruby Stewart, Lisa Pickering, Andrew J.S. Furness, Kate Young, Emma L. Nye, Gordon W.H. Stamp, Ian Proctor, Mary Falzon, David A. Moore, Miriam Mitchison, Elaine Borg, Cristina Naceur-Lombardelli, Jun Murai, Maise Al Bakir, Nicholas McGranahan, Ariana Huebner, Hang Xu, Aljosja Rogiers, Robert Mason, Joanna Lynch, Husayn Ahmed Pallikonda, Camille L. Gerard, Max Emmerich, Anne-Laure Cattin, Molly O'Flaherty, Charlotte Lewis, Justine Korteweg, Aida Murra, Jennifer Biano, Denise Kelly, Lauren Terry, Mary Mangwende, Sarah Vaughan, Sarah Sarker, Kayleigh Kelly, Kema Peat, Lauren Grostate, Karla Lingard, Zayd Tippu, Andreas M. Schmitt, Charlotte Spencer, Diana C.J. Spierings, Rene Wardenaar, Hilda van den Bos, Floris Foijer, Jaime Nobbs, Peta Hughes, Christina Messiou, Alexandra Renn, Nikki Hunter, Eleanor Carlyle, Kim Edmonds, Lewis Au, Elisa Piperni, Maria Goicoechea, Fiona Byrne, Benjamin Shum, Scott T.C. Shepherd, Desiree Schnidrig, Andrew Rowan, Irene Lobon, Alexander Coulton, Lavinia Spain
S. Table 1: List of PEACE Consortium members. S. Table 2: Sample database used for the study for Panel, Exome and RNASeq samples. S. Table 3: Overview of lines of treatment given to each patient. S. Table 4: Lesions and patients included in the lesio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33ff6cf95efc3203d7876d1cbdc0ba2e
https://doi.org/10.1158/2159-8290.22841332
https://doi.org/10.1158/2159-8290.22841332
Autor:
Axel Behrens, Julian Downward, Yulong He, Yihang Pan, Ningning Li, Emma L. Nye, Gordon W. H. Stamp, Christopher Moore, E. Josue Ruiz, Hanna Foster
Tumor cells proliferate rapidly and thus are frequently subjected to replication stress and the risk of incomplete duplication of the genome. Fragile sites are replicated late, making them more vulnerable to damage when DNA replication fails to compl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16fbf07556299d27637987ebea2d457a
https://doi.org/10.1158/0008-5472.c.6511050
https://doi.org/10.1158/0008-5472.c.6511050
Autor:
Axel Behrens, Julian Downward, Yulong He, Yihang Pan, Ningning Li, Emma L. Nye, Gordon W. H. Stamp, Christopher Moore, E. Josue Ruiz, Hanna Foster
Supplementary figure S1. ATM is altered in LUAD and reduced expression correlates with poor survival. Supplementary figure S2. ATMIN and ATM immunohistochemical staining on LUAD and adjacent normal lung tissue. Supplementary figure S3. LUAD tumors de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314f62f4ba17287b75343def153b7123
https://doi.org/10.1158/0008-5472.22421844.v1
https://doi.org/10.1158/0008-5472.22421844.v1