Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Mark E Hester"'
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0234910 (2020)
Aging in mammals is the gradual decline of an organism's physical, mental, and physiological capacity. Aging leads to increased risk for disease and eventually to death. Here, we show that Brd2 haploinsufficiency (Brd2+/-) extends lifespan and increa
Externí odkaz:
https://doaj.org/article/bfc24dbe204a4db791e5e53d0e6cee8c
Autor:
Ethan W Hollingsworth, Jacob E Vaughn, Josh C Orack, Chelsea Skinner, Jamil Khouri, Sofia B Lizarraga, Mark E Hester, Fumihiro Watanabe, Kenneth S Kosik, Jaime Imitola
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 12, Pp 1742-1762 (2017)
Abstract Disease modeling with induced pluripotent stem cells (iPSCs) is creating an abundance of phenotypic information that has become difficult to follow and interpret. Here, we report a systematic analysis of research practices and reporting bias
Externí odkaz:
https://doaj.org/article/48c85de204714a91ad24e69eda8694c7
Publikováno v:
PLoS ONE, Vol 4, Iss 9, p e7044 (2009)
BACKGROUND:Reprogramming human somatic cells to pluripotency represents a valuable resource for the development of in vitro based models for human disease and holds tremendous potential for deriving patient-specific pluripotent stem cells. Recently,
Externí odkaz:
https://doaj.org/article/e5672b38e8944ce1916bfb0d9b906659
Autor:
Spyros, Batzios, Galit, Tal, Andrew T, DiStasio, Yanyan, Peng, Christiana, Charalambous, Paola, Nicolaides, Erik-Jan, Kamsteeg, Stanley H, Korman, Hanna, Mandel, Peter J, Steinbach, Ling, Yi, Summer R, Fair, Mark E, Hester, Anthi, Drousiotou, Stephen G, Kaler
Publikováno v:
Human Molecular Genetics. 31:4121-4130
The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype–phenotype correlations have previously been reported. We describe identical twin male infants homozygous for a novel missense varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b746f24ea60c92475c8e98970568515
https://doi.org/10.1093/hmg/ddac156
https://doi.org/10.1093/hmg/ddac156
Autor:
Kenneth Jackson, Jessica Purnell, Nancy Batterson, Mark E. Hester, Kristen L. Benninger, Sara Conroy, Mary Lauren Neel, Nathalie L. Maitre
Publikováno v:
Developmental Medicine & Child Neurology. 64:453-461
AIM To determine whether infants with intrauterine drug exposure (IUDE) are similarly at risk for cerebral palsy (CP) as other high-risk populations, whether CP classification differs based on IUDE status, and describe the association of CP with spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b52e001e7c7aa28af7d5bee04ce1be
https://doi.org/10.1111/dmcn.15050
https://doi.org/10.1111/dmcn.15050
Autor:
Shuo Chen, Yuzhou Chang, Liangping Li, Diana Acosta, Yang Li, Qi Guo, Cankun Wang, Emir Turkes, Cody Morrison, Dominic Julian, Mark E. Hester, Douglas W. Scharre, Chintda Santiskulvong, Sarah XueYing Song, Jasmine T. Plummer, Geidy E. Serrano, Thomas G. Beach, Karen E. Duff, Qin Ma, Hongjun Fu
Publikováno v:
Acta neuropathologica communications. 10(1)
Human middle temporal gyrus (MTG) is a vulnerable brain region in early Alzheimer’s disease (AD), but little is known about the molecular mechanisms underlying this regional vulnerability. Here we utilize the 10 × Visium platform to define the spa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d72d023a52b209c1e4e9589864b1478
https://pubmed.ncbi.nlm.nih.gov/36544231
https://pubmed.ncbi.nlm.nih.gov/36544231
Autor:
Sakthi Rajendran, Yang Hu, Alessandro Canella, Clayton Peterson, Amy Gross, Maren Cam, Matthew Nazzaro, Abigail Haffey, Akdes Serin-Harmanci, Rosario Distefano, Giovanni Nigita, Wesley Wang, Daniel Kreatsoulas, Zihai Li, Jesse A. Sepeda, Andrew Sas, Mark E. Hester, Katherine E. Miller, Olivier Elemento, Ryan D. Roberts, Eric C. Holland, Ganesh Rao, Elaine R. Mardis, Prajwal Rajappa
Publikováno v:
Cell Reports. 42:112197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::505d1ddb232605e293aff9030682b7a3
https://doi.org/10.1016/j.celrep.2023.112197
https://doi.org/10.1016/j.celrep.2023.112197
Autor:
Alecia Biel, Anthony S. Castanza, Ryan Rutherford, Summer R. Fair, Lincoln Chifamba, Jason C. Wester, Mark E. Hester, Robert F. Hevner
Publikováno v:
Frontiers in Molecular Neuroscience. 15
AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3’ regions (exons 9-19) of the AUTS2 gene. Human AUTS2 protein has two major isoforms, f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::364124e841c63d2337f1ed8aaaa48397
https://doi.org/10.3389/fnmol.2022.858582
https://doi.org/10.3389/fnmol.2022.858582
Autor:
Summer R. Fair, Wesley Schwind, Dominic Julian, Alecia Biel, Swetha Ramadesikan, Jesse Westfall, Katherine E. Miller, Meisam Naeimi Kararoudi, Scott E. Hickey, Theresa Mihalic Mosher, Kim L. McBride, Reid Neinast, James Fitch, Dean Lee, Peter White, Richard K. Wilson, Tracy A. Bedrosian, Daniel C. Koboldt, Mark E. Hester
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid (CO) model to investigate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0275a6d7c80b5dd9695c6a4201539129
https://doi.org/10.1101/2022.02.23.22271091
https://doi.org/10.1101/2022.02.23.22271091
Autor:
Dominic Julian, Craig A. McElroy, William E. Ackerman, Guomao Zhao, Arelis B. Hester, Annalisa M Hartlaub, Girik Malik, Mark E. Hester, Summer R. Fair, Sai Teja Pusuluri, Jaime Imitola, Irina A. Buhimschi, Nathalie L. Maitre, Taryn L. Summerfied, Mehboob Ali, Tracy A. Bedrosian, Ethan Hollingsworth
Publikováno v:
Stem Cell Reports
Summary Cerebral organoids (COs) are rapidly accelerating the rate of translational neuroscience based on their potential to model complex features of the developing human brain. Several studies have examined the electrophysiological and neural netwo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac89f89d660870e21c44ec7ae17a92ef