Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Timothy M Chlon"'
Autor:
Timothy M. Chlon, Sonya Ruiz-Torres, Logan Maag, Christopher N. Mayhew, Kathryn A. Wikenheiser-Brokamp, Stella M. Davies, Parinda Mehta, Kasiani C. Myers, James M. Wells, Susanne I. Wells
Publikováno v:
Stem Cell Reports, Vol 6, Iss 1, Pp 44-54 (2016)
Pluripotent stem cells (PSCs) maintain a low mutation frequency compared with somatic cell types at least in part by preferentially utilizing error-free homologous recombination (HR) for DNA repair. Many endogenous metabolites cause DNA interstrand c
Externí odkaz:
https://doaj.org/article/aec65fee17b04951998ef81f7f18107e
Autor:
Ashley E. Culver-Cochran, Marie-Dominique Filippi, Joshua R. Bennett, Kathleen Hueneman, Emily Stepanchick, James Bartram, Mark Wunderlich, John P. Perentesis, Daniel T. Starczynowski, Timothy M. Chlon, Lyndsey Bolanos, Madeline Niederkorn, Emma Uible, Kwangmin Choi, Chiharu Ishikawa
Publikováno v:
Leukemia
Ubiquitin-specific peptidase 15 (USP15) is a deubiquitinating enzyme implicated in critical cellular and oncogenic processes. We report that USP15 mRNA and protein are overexpressed in human acute myeloid leukemia (AML) as compared to normal hematopo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2e7d2bb59628468f7859a7a88e84f6d
https://doi.org/10.1038/s41375-021-01394-z
https://doi.org/10.1038/s41375-021-01394-z
Publikováno v:
Blood Cancer Discovery. 4:A46-A46
Germline mutations in the RNA Helicase gene DDX41 are the most common cause of inherited susceptibility to adult MDS and AML. These mutations are always heterozygous and are typically frameshifts, causing loss of functional protein. We recently repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::370116e8c92156a62fa988ff8e532a5d
https://doi.org/10.1158/2643-3249.aml23-a46
https://doi.org/10.1158/2643-3249.aml23-a46
Publikováno v:
Haematologica, Vol 100, Iss 5 (2015)
GATA1 is a master transcriptional regulator of the differentiation of several related myeloid blood cell types, including erythrocytes and megakaryocytes. Germ-line mutations that cause loss of full length GATA1, but allow for expression of the short
Externí odkaz:
https://doaj.org/article/2039ace4efc8461494dc59c5bd984248
Autor:
Courtney E Hershberger, Kathleen Hueneman, Daniel T. Starczynowski, Torsten Haferlach, Yi Zheng, Emily Stepanchick, Ashley Kuenzi Davis, Carmelo Gurnari, Jaroslaw P. Maciejewski, Noah J. Daniels, Richard A. Padgett, Timothy M. Chlon, Kwangmin Choi
Publikováno v:
Cell Stem Cell
DDX41 mutations are the most common germline alterations in adult myelodysplastic syndromes (MDSs). The majority of affected individuals harbor germline monoallelic frameshift DDX41 mutations and subsequently acquire somatic mutations in their other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f96fe73f1557f06df3afc7c5533331
https://pubmed.ncbi.nlm.nih.gov/34473945
https://pubmed.ncbi.nlm.nih.gov/34473945
Publikováno v:
Blood. 132:1553-1560
Chronic innate immune signaling in hematopoietic cells is widely described in myelodysplastic syndromes (MDS), and innate immune pathway activation, predominantly via pattern recognition receptors, increases the risk of developing MDS. An inflammator
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95487732bd223c0d03f77ed6a9340503
https://doi.org/10.1182/blood-2018-03-784116
https://doi.org/10.1182/blood-2018-03-784116
Autor:
Kathleen Hueneman, Daniel T. Starczynowski, Emily Stepanchick, Analise Sulentic, Timothy M. Chlon
Publikováno v:
Blood. 138:148-148
Germline mutations in the RNA Helicase gene DDX41 cause inherited susceptibility to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). These mutations are always heterozygous and are typically frameshifts, causing loss of protein expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48f554c89a0a56c869f4d952d16ef880
https://doi.org/10.1182/blood-2021-153544
https://doi.org/10.1182/blood-2021-153544
Autor:
Adam Lane, Parinda A. Mehta, Mathieu Sertorio, Stella M. Davies, Kakajan Komurov, David P. Witte, Paul F. Lambert, Kathryn A. Wikenheiser-Brokamp, Sharon Sauter, Adam S. Nelson, Bidisha Pal, Timothy M. Chlon, Sonya Ruiz-Torres, Kasiani C. Myers, Melinda Butsch Kovacic, Susanne I. Wells, Marion G. Brusadelli, Mary C. Bedard, Dorothy M. Supp
Publikováno v:
Cell Stem Cell
Squamous cell carcinoma (SCC) is a global public health burden originating in epidermal stem and progenitor cells (ESPCs) of the skin and mucosa. To understand how genetic risk factors contribute to SCC, studies of ESPC biology are imperative. Childr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0dc8394fa34ab5c9e37cb75f0f685ea
https://doi.org/10.1016/j.stem.2020.10.012
https://doi.org/10.1016/j.stem.2020.10.012
Autor:
Kathryn A. Wikenheiser-Brokamp, Stella M. Davies, Christopher N. Mayhew, Logan Maag, Sonya Ruiz-Torres, Kasiani C. Myers, James M. Wells, Parinda A. Mehta, Susanne I. Wells, Timothy M. Chlon
Publikováno v:
Stem Cell Reports, Vol 6, Iss 1, Pp 44-54 (2016)
Stem Cell Reports
Stem Cell Reports
Summary Pluripotent stem cells (PSCs) maintain a low mutation frequency compared with somatic cell types at least in part by preferentially utilizing error-free homologous recombination (HR) for DNA repair. Many endogenous metabolites cause DNA inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8936b5fddb83234717bae99ed5af1c30
https://doi.org/10.1016/j.stemcr.2015.12.001
https://doi.org/10.1016/j.stemcr.2015.12.001
Publikováno v:
Blood. 136:40-40
Germline mutations in the DEAD-box RNA helicase gene DDX41 cause inherited susceptibility to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). These patients have normal hematopoietic indices into adulthood and present with MDS at a me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccd2abd4fe1d5e0d7dd6a5182fda0574
https://doi.org/10.1182/blood-2020-143222
https://doi.org/10.1182/blood-2020-143222