Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Jeanette, Beers"'
Autor:
Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Jizhong Zou, Chengyu Liu, Steven Rodems, Karsten Baumgärtel, Melissa A. Gilbert, Nancy B. Spinner, Catherine Chen, Wei Zheng
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103429- (2024)
Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of th
Externí odkaz:
https://doaj.org/article/5de507670f2e4d8a8f55d3b2bfa9b635
Autor:
Omer Hatim, Ivan Pavlinov, Miao Xu, Kaari Linask, Jeanette Beers, Chengyu Liu, Karsten Baumgärtel, Melissa Gilbert, Nancy Spinner, Catherine Chen, Jizhong Zou, Wei Zheng
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103231- (2023)
Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system cl
Externí odkaz:
https://doaj.org/article/533a044c38334906873c90a9d6ffa364
Autor:
Kofi Owusu-Ansah, Ivan Pavlinov, Miao Xu, Jeanette Beers, Catherine Chen, Wei Zheng, Jizhong Zou
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103135- (2023)
Expanded human lymphoblast cells from three different aged healthy individuals, 8-year-old male, 0-year-old newborn (NB) male, and 26-year-old female, were used to generate induced pluripotent stem cell (iPSC) lines TRNDi033-A, TRNDi034-A and TRNDi03
Externí odkaz:
https://doaj.org/article/74a4c145baf345be94c4630d0ce82208
Autor:
Rebecca Harper, Quan Yu, Yangtenyu Liu, Dan Yang, Jizhong Zou, Jeanette Beers, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm, Guibin Chen
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103059- (2023)
Externí odkaz:
https://doaj.org/article/fbc8154293034eb6a718324ed119e5f8
Autor:
Atul Mehta, Quan Yu, Yangtengyu Liu, Dan Yang, Jizhong Zou, Jeanette Beers, Adriana A de Jesus Rasheed, Andrew T. Rastegar, Raphaela Goldbach-Mansky, Manfred Boehm, Guibin Chen
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102974- (2022)
We have successfully created induced pluripotent stem cells (iPSC) from patients carrying a heterozygous mutation in the gene encoding STING. The gain-of-function mutation leads to constitutive activation of STING which leads to the development of th
Externí odkaz:
https://doaj.org/article/e61af6b0b02140be81abbf22965b1331
Autor:
Rebecca Harper, Quan Yu, Yangtenyu Liu, Dan Yang, Jizhong Zou, Jeanette Beers, Adriana A. de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm, Guibin Chen
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102933- (2022)
We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of the patient with a germline mutation in the coding region of the LYN kinase gene. This gain of function (GOF) mutation eliminates the inhibitory tyrosine
Externí odkaz:
https://doaj.org/article/3fd2c37e697d49cf9352dc637cf0ee53
Autor:
Kaiyuan Wu, Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patricia Dias, Jeanette Beers, Yongshun Lin, Cas Simons, Ernst Wolvetang, Jizhong Zou, Adeline Vanderver, Michael N. Sack
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102905- (2022)
Genetic studies show that BLOC1S1 modulates mitochondrial and endosome-lysosome function (Wu et al., 2021a). Furthermore, Bloc1s1 mutations are linked to leukodystrophy (Bertoli-Avella et al., 2021). The Vanderver laboratory identified additional ind
Externí odkaz:
https://doaj.org/article/32127ec9fd3440ed9724b16e1c65360d
Autor:
Quan Yu, Atul Mehta, Jizhong Zou, Jeanette Beers, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm, Guibin Chen
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102820- (2022)
We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts and peripheral blood mononuclear cells from patients with a homozygous missense mutation in the gene encoding PSMB8. Biallelic loss of function mutations in
Externí odkaz:
https://doaj.org/article/4331ce6d38db4067b57f6b463ef81b31
Autor:
Ivan Pavlinov, Atena Farkhondeh, Shu Yang, Miao Xu, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng
Publikováno v:
Stem Cell Research, Vol 57, Iss , Pp 102602- (2021)
Externí odkaz:
https://doaj.org/article/9d7d970227b542cb8a75fab547a9eb0b
Autor:
Ivan Pavlinov, Atena Farkhondeh, Shu Yang, Miao Xu, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102554- (2021)
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that ca
Externí odkaz:
https://doaj.org/article/ca73fb73f49942c1a28705cccce7f339