Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sarah M. Muir"'
Autor:
Julie Lacombe, Kevin Guo, Jessica Bonneau, Denis Faubert, Florian Gioanni, Alexis Vivoli, Sarah M. Muir, Soraya Hezzaz, Vincent Poitout, Mathieu Ferron
Publikováno v:
Cell Reports, Vol 42, Iss 5, Pp 112500- (2023)
Summary: Vitamin K is a micronutrient necessary for γ-carboxylation of glutamic acids. This post-translational modification occurs in the endoplasmic reticulum (ER) and affects secreted proteins. Recent clinical studies implicate vitamin K in the pa
Externí odkaz:
https://doaj.org/article/db075e3aed46422494348fc8be99755a
Autor:
Rena M Schweizer, Jonathan P Velotta, Catherine M Ivy, Matthew R Jones, Sarah M Muir, Gideon S Bradburd, Jay F Storz, Graham R Scott, Zachary A Cheviron
Publikováno v:
PLoS Genetics, Vol 15, Iss 11, p e1008420 (2019)
Evolutionary adaptation to extreme environments often requires coordinated changes in multiple intersecting physiological pathways, but how such multi-trait adaptation occurs remains unresolved. Transcription factors, which regulate the expression of
Externí odkaz:
https://doaj.org/article/1101ce9a66604d08a7115ab8108773a7
Autor:
Ahmed M. Bayoumi, Sarah M Muir, Jordan Lerner-Ellis, Agnes Sebastian, Marc Clausen, Yvonne Bombard, Kasmintan A. Schrader, Emily Glogowski, Raymond H. Kim, Kevin E. Thorpe, Chloe Mighton, Dean A. Regier, Adena S. Scheer, Salma Shickh, Nancy N. Baxter, Theresa H M Kim
Publikováno v:
Human Genetics. 140:1695-1708
Variants of uncertain significance (VUS) are frequently reclassified but recontacting patients with updated results poses significant resource challenges. We aimed to characterize public and patient preferences for being recontacted with updated resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3de5e2d034369c355fc6dc12b3ad8e43
https://doi.org/10.1007/s00439-021-02366-0
https://doi.org/10.1007/s00439-021-02366-0
Autor:
Chloe Mighton, Marc Clausen, Salma Shickh, Nancy N. Baxter, Adena Scheer, Agnes Sebastian, Sarah M. Muir, Theresa H.M. Kim, Emily Glogowski, Kasmintan A. Schrader, Dean A. Regier, Raymond H. Kim, Jordan Lerner-Ellis, Ahmed M. Bayoumi, Kevin E. Thorpe, Yvonne Bombard
Publikováno v:
Genetics in Medicine. 25:100819
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d21fb9563c616f9a3b2b10c6b805f5c
https://doi.org/10.1016/j.gim.2023.100819
https://doi.org/10.1016/j.gim.2023.100819
Autor:
Sarah M. Muir, Rachel Reagle
Publikováno v:
Journal of genetic counselingREFERENCES. 31(6)
Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re-contact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9da82559bb6472639146348449f846
https://pubmed.ncbi.nlm.nih.gov/35763673
https://pubmed.ncbi.nlm.nih.gov/35763673
Autor:
Julie Lacombe, Kevin Guo, Jessica Bonneau, Denis Faubert, Florian Gioanni, Alexis Vivoli, Sarah M. Muir, Soraya Hezzaz, Vincent Poitout, Mathieu Ferron
SUMMARYVitamin K is a micronutrient necessary for the γ-carboxylation of glutamic acids. This post-translational modification occurs in the endoplasmic reticulum (ER) and affects secreted proteins. Clinical studies have recently implicated vitamin K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df5be3fb05ba9469a64df40e20c4d380
https://doi.org/10.1101/2022.05.13.491370
https://doi.org/10.1101/2022.05.13.491370
Autor:
Chloe, Mighton, Marc, Clausen, Agnes, Sebastian, Sarah M, Muir, Salma, Shickh, Nancy N, Baxter, Adena, Scheer, Emily, Glogowski, Kasmintan A, Schrader, Kevin E, Thorpe, Theresa H M, Kim, Jordan, Lerner-Ellis, Raymond H, Kim, Dean A, Regier, Ahmed M, Bayoumi, Yvonne, Bombard
Publikováno v:
Human genetics. 140(12)
Variants of uncertain significance (VUS) are frequently reclassified but recontacting patients with updated results poses significant resource challenges. We aimed to characterize public and patient preferences for being recontacted with updated resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94b2c56c16afa8809ced1faf0295652e
https://pubmed.ncbi.nlm.nih.gov/34537903
https://pubmed.ncbi.nlm.nih.gov/34537903
Autor:
Jay F. Storz, Gideon S. Bradburd, Zachary A. Cheviron, Sarah M. Muir, Graham R. Scott, Rena M. Schweizer, Matthew R. Jones, Jonathan P. Velotta, Catherine M. Ivy
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 15, Iss 11, p e1008420 (2019)
PLoS Genetics, Vol 15, Iss 11, p e1008420 (2019)
Evolutionary adaptation to extreme environments often requires coordinated changes in multiple intersecting physiological pathways, but how such multi-trait adaptation occurs remains unresolved. Transcription factors, which regulate the expression of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4bc69d6f04a8559d4842e8532fdcc47
https://doi.org/10.1371/journal.pgen.1008420
https://doi.org/10.1371/journal.pgen.1008420