Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Shannon W, Davis"'
Autor:
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated w
Externí odkaz:
https://doaj.org/article/0bbc158ef495443f94e7c8846687f0bb
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/3997c753b45748c5b45a64dfe57d2fa9
Autor:
Angelica Gualtieri, Nikolina Kyprianou, Louise C. Gregory, Maria Lillina Vignola, James G. Nicholson, Rachael Tan, Shin-ichi Inoue, Valeria Scagliotti, Pedro Casado, James Blackburn, Fernando Abollo-Jimenez, Eugenia Marinelli, Rachael E. J. Besser, Wolfgang Högler, I. Karen Temple, Justin H. Davies, Andrey Gagunashvili, Iain C.A.F. Robinson, Sally A. Camper, Shannon W. Davis, Pedro R. Cutillas, Evelien F. Gevers, Yoko Aoki, Mehul T. Dattani, Carles Gaston-Massuet
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms. This article
Externí odkaz:
https://doaj.org/article/e3eb9cf575fa459d8daff6264b919278
Autor:
Zhenhua Shang, David J. Horovitz, Ronald H. McKenzie, Jessica L. Keisler, Michael R. Felder, Shannon W. Davis
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-17 (2020)
Abstract Background Peromyscus are the most common mammalian species in North America and are widely used in both laboratory and field studies. The deer mouse, P. maniculatus and the old-field mouse, P. polionotus, are closely related and can generat
Externí odkaz:
https://doaj.org/article/42e7c17425fd470e967ee83f17af63cf
Publikováno v:
Behavior Genetics. 53:53-62
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
The complex development of the human nervous system has been traditionally studied using a combination of animal models, human post-mortem brain tissue, and human genetics studies. However, there has been a lack of experimental human cellular models
Externí odkaz:
https://doaj.org/article/3ae7faeb19c9490a8e652ec770fc2c09
Autor:
Seonhye Cheon, Allison M. Culver, Anna M. Bagnell, Foster D. Ritchie, Janay M. Vacharasin, Mikayla M. McCord, Carin M. Papendorp, Evelyn Chukwurah, Austin J. Smith, Mara H. Cowen, Trevor A. Moreland, Pankaj S. Ghate, Shannon W. Davis, Judy S. Liu, Sofia B. Lizarraga
Publikováno v:
Molecular Psychiatry. 27:2291-2303
Publikováno v:
Biometrics
With recent advances in technologies to profile multi-omics data at the single-cell level, integrative multi-omics data analysis has been increasingly popular. It is increasingly common that information such as methylation changes, chromatin accessib
Autor:
Shannon W Davis, Jessica L Keisler
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150598 (2016)
Deer mice, or Peromyscus maniculatus, are an emerging model system for use in biomedicine. P. maniculatus are similar in appearance to laboratory mice, Mus musculus, but are more closely related to hamsters than to Mus. The laboratory strains of Pero
Externí odkaz:
https://doaj.org/article/26d117f90ed34467b6640cb3e63547b3
Autor:
Pedro R. Cutillas, Valeria Scagliotti, I. Karen Temple, Wolfgang Högler, Justin H Davies, Andrey Gagunashvili, James G. Nicholson, Shannon W. Davis, Rachael Tan, Pedro Casado, Mehul T. Dattani, Louise C. Gregory, Eugenia Marinelli, Carles Gaston-Massuet, Rachael E. J. Besser, James Blackburn, Sally A. Camper, Evelien F. Gevers, Iain C.A.F. Robinson, Yoko Aoki, Maria Lillina Vignola, Angelica Gualtieri, Shin Ichi Inoue, Fernando Abollo-Jimenez, Nikolina Kyprianou
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Germline mutations in BRAF and other components of the MAPK pathway are associated with the congenital syndromes collectively known as RASopathies. Here, we report the association of Septo-Optic Dysplasia (SOD) including hypopituitarism and Cardio-Fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef6fcf94ac91ef8f402346cbd8433b5
https://eprints.soton.ac.uk/448314/
https://eprints.soton.ac.uk/448314/