Zobrazeno 1 - 10
of 364
pro vyhledávání: '"Eric A, Pierce"'
Autor:
Blake M. Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios G. Vavvas, Jason Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Gaurav D. Gaiha, Elizabeth J. Rossin
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a pote
Externí odkaz:
https://doaj.org/article/687636a497b74f41b978034f522f3392
Autor:
Emily P. Stephen, Gladia C. Hotan, Eric T. Pierce, P. Grace Harrell, John L. Walsh, Emery N. Brown, Patrick L. Purdon
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/df6e6c3fb57f44648973bd7ffcfb4867
Autor:
Hanmeng Zhang, Laurence Daheron, Rodrigo Cerna-Chavez, Emily M. Place, Rachel M. Huckfeldt, Eric A. Pierce, Marcela Garita-Hernandez
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103280- (2024)
We have successfully derived a novel human induced pluripotent stem cell (hiPSC) line using non-integrative Sendai virus. This hiPSC line was generated from a healthy male adult donor, aged 55, and subjected to thorough characterization and extensive
Externí odkaz:
https://doaj.org/article/4d1f7e50dde5403480fb983c50e4f6b3
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 319-328 (2023)
Nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) is a ubiquitously expressed enzyme involved in nuclear NAD+ production throughout the body. However, mutations in the NMNAT1 gene lead to retina-specific disease with few reports of systemic effe
Externí odkaz:
https://doaj.org/article/faddedac51f94ab78768198b03842ef8
Autor:
Jiangxia Li, Linchun Wu, Liangmei Chen, Jun Zhang, Zihan Shi, He Ling, Cheng Cheng, Hongsheng Wu, Afrachanna D. Butler, Qinku Zhang, Zikri Arslan, Eric M. Pierce, Yi Su, Fengxiang X. Han
Publikováno v:
Geoderma, Vol 441, Iss , Pp 116750- (2024)
Mercury is recognized as a global pollutant. A large amount of elemental mercury was used in the Manhattan Project in Oak Ridge, TN and Hg is still present in the water-shed surrounding the Y-12 facility and East Fork Poplar Creek. Soil erosion durin
Externí odkaz:
https://doaj.org/article/ab8fb7a4643940e7815b84e40474b000
Autor:
Claire L. Corkhill, Colleen Mann, Jeremy R. Eskelsen, Donovan N. Leonard, Lucy M. Mottram, Martin C. Stennett, Jennifer M. S. Ayling, Clare L. Thorpe, Max R. Cole, Sarah Nicholas, Ryan Tappero, Eric M. Pierce
Publikováno v:
npj Materials Degradation, Vol 6, Iss 1, Pp 1-14 (2022)
Abstract The corrosion mechanisms and kinetics of a Mg-rich alkali aluminoborosilicate glass simulating UK high-level waste (CaZn28) were investigated upon dissolution in synthetic cement solutions. Dissolution varied as a function the different pH a
Externí odkaz:
https://doaj.org/article/bc5e488ee3cd4595a4f876cc25d723c5
Publikováno v:
Frontiers in Water, Vol 5 (2023)
Machine learning (ML) models, and Long Short-Term Memory (LSTM) networks in particular, have demonstrated remarkable performance in streamflow prediction and are increasingly being used by the hydrological research community. However, most of these a
Externí odkaz:
https://doaj.org/article/024be4164bf34937a94a9e774ad4824c
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The complement system plays a role in the formation of sub-retinal pigment epithelial (RPE) deposits in early stages of age-related macular degeneration (AMD). But the specific mechanisms that connect complement activation and deposit format
Externí odkaz:
https://doaj.org/article/2259019cd6ae4e0484dfbf83b812201a
Autor:
Scott H. Greenwald, Emily E. Brown, Michael J. Scandura, Erin Hennessey, Raymond Farmer, Basil S. Pawlyk, Ru Xiao, Luk H. Vandenberghe, Eric A. Pierce
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 582-594 (2020)
No treatment is available for nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1)-associated retinal degeneration, an inherited disease that leads to severe vision loss early in life. Although the causative gene, NMNAT1, plays an essential rol
Externí odkaz:
https://doaj.org/article/5d02e3397cf744a298ba15f2fe1d0c82