Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Karsten Baumgärtel"'
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:
Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including g
Externí odkaz:
https://doaj.org/article/82f3d9bc8e174166b565226d795f1a90
Autor:
Simona Hankeova, Noemi Van Hul, Jakub Laznovsky, Elisabeth Verboven, Katrin Mangold, Naomi Hensens, Csaba Adori, Elvira Verhoef, Tomas Zikmund, Feven Dawit, Michaela Kavkova, Jakub Salplachta, Marika Sjöqvist, Bengt R Johansson, Mohamed G Hassan, Linda Fredriksson, Karsten Baumgärtel, Vitezslav Bryja, Urban Lendahl, Andrew Jheon, Florian Alten, Kristina Teär Fahnehjelm, Björn Fischler, Jozef Kaiser, Emma R Andersson
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 12, Pp n/a-n/a (2022)
Abstract Spontaneous bleeds are a leading cause of death in the pediatric JAG1‐related liver disease Alagille syndrome (ALGS). We asked whether there are sex differences in bleeding events in patients, whether Jag1Ndr/Ndr mice display bleeds or vas
Externí odkaz:
https://doaj.org/article/06eb0c1933c14c07a0211bd34884636e
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
Autor:
Manisha Pradhan, Atena Farkhondeh, Yu-Shan Cheng, Miao Xu, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102400- (2021)
NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC
Externí odkaz:
https://doaj.org/article/e941abd511194888acb7a5f7e976e86b
Autor:
Susan McQuown, Shouzhen Xia, Karsten Baumgärtel, Richard Barido, Gary Anderson, Brian Dyck, Roderick Scott, Marco Peters
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Augmentation of cyclic nucleotide signaling through inhibition of phosphodiesterase (PDE) activity has long been understood to enhance memory. Efforts in this domain have focused predominantly on PDE4, a cAMP-specific phosphodiesterase implicated in
Externí odkaz:
https://doaj.org/article/cb32a278a3ec4df0b94cb3e803e7beb1
Autor:
Karsten Baumgärtel, Chengyu Liu, Ivan Pavlinov, Atena Farkhondeh, Wei Zheng, Yu-Shan Cheng, Jeanette Beers, Steven Rodems, Shu Yang, Miao Xu, Matthew Might, Jizhong Zou
Publikováno v:
Stem Cell Research, Vol 57, Iss, Pp 102602-(2021)
Stem Cell Res
Stem Cell Res
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
Autor:
Yu-Shan Cheng, Shu Yang, Wei Zheng, Miao Xu, Jizhong Zou, Steven Rodems, Karsten Baumgärtel, Matthew Might, Ivan Pavlinov, Atena Farkhondeh, Chengyu Liu, Jeanette Beers
Publikováno v:
Stem Cell Research, Vol 56, Iss, Pp 102554-(2021)
Stem Cell Res
Stem Cell Res
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