Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Marcy E. Richardson"'
Autor:
Thales C. Nepomuceno, Tzeh Keong Foo, Marcy E. Richardson, John Michael O. Ranola, Jamie Weyandt, Matthew J. Varga, Amaya Alarcon, Diana Gutierrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond Kim, Susan Armel, Edwin Iversen, Fergus J. Couch, Åke Borg, Bing Xia, Marcelo A. Carvalho, Alvaro N.A. Monteiro
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100296- (2024)
Externí odkaz:
https://doaj.org/article/b5b4b5712b0b4b85b159b2b0382c878a
Autor:
Nihat B. Agaoglu, Brittany L. Bychkovsky, Carolyn Horton, Min-Tzu Lo, Linda Polfus, Cassidy Carraway, Parichehr Hemyari, Colin Young, Marcy E. Richardson, Rochelle Scheib, Judy E. Garber, Huma Q. Rana
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101829- (2024)
Purpose: As panel testing expands, more individuals with double pathogenic variants (DPVs) in cancer susceptibility genes are likely to be identified. Little is known about the effects of DPVs on cancer phenotype, although this information is crucial
Externí odkaz:
https://doaj.org/article/bdca0bccbd394f8bae31f3d0613bd1f9
Autor:
Thales C. Nepomuceno, Tzeh Keong Foo, Marcy E. Richardson, John Michael O. Ranola, Jamie Weyandt, Matthew J. Varga, Amaya Alarcon, Diana Gutierrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond Kim, Susan Armel, Edwin Iversen, Fergus J. Couch, Åke Borg, Bing Xia, Marcelo A. Carvalho, Alvaro N.A. Monteiro
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100240- (2023)
Summary: Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the im
Externí odkaz:
https://doaj.org/article/d0fa6c8d4db34f27ade4f9b5cda34fcf
Autor:
Hye-Won Song, Anilkumar Bettegowda, Blue B. Lake, Adrienne H. Zhao, David Skarbrevik, Eric Babajanian, Meena Sukhwani, Eleen Y. Shum, Mimi H. Phan, Terra-Dawn M. Plank, Marcy E. Richardson, Madhuvanthi Ramaiah, Vaishnavi Sridhar, Dirk G. de Rooij, Kyle E. Orwig, Kun Zhang, Miles F. Wilkinson
Publikováno v:
Cell Reports, Vol 17, Iss 1, Pp 149-164 (2016)
The developmental origins of most adult stem cells are poorly understood. Here, we report the identification of a transcription factor—RHOX10—critical for the initial establishment of spermatogonial stem cells (SSCs). Conditional loss of the enti
Externí odkaz:
https://doaj.org/article/6d7587bd1d6544e09806e0302cbca845
Autor:
Paul J. Goodfellow, Elizabeth M. Swisher, Scott H. Kaufmann, Marcy E. Richardson, Marc R. Radke, Rachel Doberstein, Jessica L. Gillespie, Jennifer Ivanovich, Cassandra L. Moyer
ClinVar variant interpretations from May 2019 for variants identified in discovery cohorts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acac057c05e3c502ec6ba3d2d14ca576
https://doi.org/10.1158/0008-5472.22424931
https://doi.org/10.1158/0008-5472.22424931
Autor:
Paul J. Goodfellow, Elizabeth M. Swisher, Scott H. Kaufmann, Marcy E. Richardson, Marc R. Radke, Rachel Doberstein, Jessica L. Gillespie, Jennifer Ivanovich, Cassandra L. Moyer
Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer risk, particularly among patients who develop disease at an early age. Norma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34499b081859271be2838c501e8fae51
https://doi.org/10.1158/0008-5472.c.6511902.v1
https://doi.org/10.1158/0008-5472.c.6511902.v1
Autor:
Paul J. Goodfellow, Elizabeth M. Swisher, Scott H. Kaufmann, Marcy E. Richardson, Marc R. Radke, Rachel Doberstein, Jessica L. Gillespie, Jennifer Ivanovich, Cassandra L. Moyer
Supplementary methods; FS1: BRIP1 nonsense and frameshift mutations; FS2: BRIP1 expression in CRISPR cell lines; FS3: hydroxyurea and TMPyP4 challenge; FS4: HEK293TN CRISPR cell lines; FS5: HeLa stable clone rescues; FS6: Transient rescue screening a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af6b2e903081893e9042748bb7176ad
https://doi.org/10.1158/0008-5472.22424934
https://doi.org/10.1158/0008-5472.22424934
Autor:
Kelly Fulk, David E. Goldgar, Steven N. Hart, Tina Pesaran, Marcy E. Richardson, Chunling Hu, Kun Y. Lee, Fergus J. Couch, Elizabeth C. Chao, Ashley Deckman, Alvaro N.A. Monteiro, Kate Durda, Rohan Gnanaolivu, Eric C. Polley, Holly LaDuca
Publikováno v:
American Journal of Human Genetics
Summary Determination of the clinical relevance of rare germline variants of uncertain significance (VUSs) in the BRCA2 cancer predisposition gene remains a challenge as a result of limited availability of data for use in classification models. Howev
Autor:
Taciane B. Henriques, Iuly G. Ribeiro, Thales C. Nepomuceno, Marcy E. Richardson, Marcele L.M. de Souza, Géssica F. Machado, Mariana F. Veloso, Marcelo A. Carvalho, David E. Goldgar, Diandra Zipinotti dos Santos, Roberto S. Ribeiro, Alvaro N.A. Monteiro, Fergus J. Couch, Edwin S. Iversen, Paulo C Lyra, Leticia Batista Azevedo Rangel
Publikováno v:
Genetics in Medicine
Purpose BRCA1 pathogenic variant heterozygotes are at a substantially increased risk for breast and ovarian cancer. The widespread uptake of testing has led to a significant increase in the detection of missense variants in BRCA1, the vast majority o
Autor:
Marc R. Radke, Elizabeth M. Swisher, Cassandra L. Moyer, Jessica L. Gillespie, Paul J. Goodfellow, Rachel Doberstein, Jennifer Ivanovich, Scott H. Kaufmann, Marcy E. Richardson
Publikováno v:
Cancer Research. 80:857-867
Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer risk, particularly among patients who develop disease at an early age. Norma