Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Phillip A. Doerfler"'
Autor:
Kaitly J. Woodard, Phillip A. Doerfler, Kalin D. Mayberry, Akshay Sharma, Rachel Levine, Jonathan Yen, Virginia Valentine, Lance E. Palmer, Marc Valentine, Mitchell J. Weiss
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 6 (2022)
We characterized the human β-like globin transgenes in two mouse models of sickle cell disease (SCD) and tested a genome-editing strategy to induce red blood cell fetal hemoglobin (HbF; α2γ2). Berkeley SCD mice contain four to 22 randomly arranged
Externí odkaz:
https://doaj.org/article/c7a2b29fe3814d94a95e8c2dce8aa30e
Autor:
Brendan M. Doyle, Sara M.F. Turner, Michael D. Sunshine, Phillip A. Doerfler, Amy E. Poirier, Lauren A. Vaught, Marda L. Jorgensen, Darin J. Falk, Barry J. Byrne, David D. Fuller
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 194-203 (2019)
Pompe disease is caused by mutations in the gene encoding the lysosomal glycogen-metabolizing enzyme, acid-alpha glucosidase (GAA). Tongue myofibers and hypoglossal motoneurons appear to be particularly susceptible in Pompe disease. Here we used intr
Externí odkaz:
https://doaj.org/article/605955560d5c4490b43140dff4ed8fea
Autor:
Kunhua Qin, Peng Huang, Ruopeng Feng, Cheryl A. Keller, Scott A. Peslak, Eugene Khandros, Megan S. Saari, Xianjiang Lan, Thiyagaraj Mayuranathan, Phillip A. Doerfler, Osheiza Abdulmalik, Belinda Giardine, Stella T. Chou, Junwei Shi, Ross C. Hardison, Mitchell J. Weiss, Gerd A. Blobel
Publikováno v:
Nature Genetics. 54:874-884
Autor:
Shaina N. Porter, Phillip A. Doerfler, Merlin Crossley, Mitchell J. Weiss, Shondra M. Pruett-Miller, Henry W Bell, Yong Cheng, Lance E. Palmer, Ruopeng Feng, Yichao Li
Publikováno v:
Nature genetics
Hereditary persistence of fetal hemoglobin (HPFH) ameliorates β-hemoglobinopathies by inhibiting the developmental switch from γ-globin (HBG1/HBG2) to β-globin (HBB) gene expression. Some forms of HPFH are associated with γ-globin promoter varian
Autor:
Thiyagaraj Mayuranathan, Gregory A. Newby, Ruopeng Feng, Yu Yao, Kalin Mayberry, Guolian Kang, Cicera Lazzarotto, Yichao Li, Rachel Levine, Erin Dempsey, Shaina N. Porter, Phillip A Doerfler, Jingjing Zhang, Yoonjeong Jang, Senthil Bhoopalan, Nikitha Nimmagadda, Akshay Sharma, John Tisdale, Shondra Miller, Yong Cheng, Shengdar Tsai, Mitchell J. Weiss, David R. Liu, Jonathan S Yen
Publikováno v:
Blood. 140:7784-7785
Autor:
Phillip A. Doerfler, Mitchell L. Leibowitz, Logan J. Blaine, Cheng-Zhong Zhang, Lili Sun, Stamatis Papathanasiou, David Pellman, Mitchell J. Weiss, Yu Yao
Publikováno v:
Nature Genetics. 53:895-905
Genome editing has therapeutic potential for treating genetic diseases and cancer. However, the currently most practicable approaches rely on the generation of DNA double-strand breaks (DSBs), which can give rise to a poorly characterized spectrum of
Autor:
David D. Fuller, Amy Poirier, Barry J. Byrne, Phillip A. Doerfler, Lauren Vaught, Michael D. Sunshine, Brendan M. Doyle, Marda Jorgensen, Darin J. Falk, Sara M.F. Turner
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 194-203 (2019)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Pompe disease is caused by mutations in the gene encoding the lysosomal glycogen-metabolizing enzyme, acid-alpha glucosidase (GAA). Tongue myofibers and hypoglossal motoneurons appear to be particularly susceptible in Pompe disease. Here we used intr
Autor:
Jing Zeng, Byoung Y. Ryu, Kaitly J. Woodard, Stephanie Fowler, John F. Tisdale, Shengdar Q. Tsai, Jean-Yves Metais, Shondra M. Pruett-Miller, Cicera R. Lazzarotto, Yu Yao, Kevin Luk, Yuxuan Wu, Sagar Keriwala, Michael D. Neel, Daniel E. Bauer, Samuel T. Peters, S. Scott Perry, Scot A. Wolfe, Shaina N. Porter, Mitchell J. Weiss, Thiyagaraj Mayuranathan, Varun Katta, Naoya Uchida, Akshay Sharma, Matthew M. Hsieh, Devlin Shea, Phillip A. Doerfler
Publikováno v:
Blood Advances. 3:3379-3392
Induction of fetal hemoglobin (HbF) via clustered regularly interspaced short palindromic repeats/Cas9–mediated disruption of DNA regulatory elements that repress γ-globin gene (HBG1 and HBG2) expression is a promising therapeutic strategy for sic
Autor:
Ruopeng Feng, Thiyagaraj Mayuranathan, Peng Huang, Phillip A. Doerfler, Yichao Li, Yu Yao, Jingjing Zhang, Lance E. Palmer, Kalin Mayberry, Georgios E. Christakopoulos, Peng Xu, Chunliang Li, Yong Cheng, Gerd A. Blobel, M. Celeste Simon, Mitchell J. Weiss
Publikováno v:
Nature
Around birth, globin expression in human red blood cells (RBCs) shifts from γ-globin to β-globin, resulting in fetal hemoglobin (HbF, α2γ2) being gradually replaced by adult hemoglobin (HbA, α2β2) (1). This process has motivated innovative appr
Autor:
Kunhua, Qin, Peng, Huang, Ruopeng, Feng, Cheryl A, Keller, Scott A, Peslak, Eugene, Khandros, Megan S, Saari, Xianjiang, Lan, Thiyagaraj, Mayuranathan, Phillip A, Doerfler, Osheiza, Abdulmalik, Belinda, Giardine, Stella T, Chou, Junwei, Shi, Ross C, Hardison, Mitchell J, Weiss, Gerd A, Blobel
Publikováno v:
Nature genetics. 54(6)
The mechanisms by which the fetal-type β-globin-like genes HBG1 and HBG2 are silenced in adult erythroid precursor cells remain a fundamental question in human biology and have therapeutic relevance to sickle cell disease and β-thalassemia. Here, w