Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Adriana A de Jesus Rasheed"'
Autor:
Benjamin Joseph, Isabella Varea, Kevin Emmerich, Sahana Manohar-Sindhu, Jizhong Zou, Kip Friend, Caleb Sipwoli, Xuming Tang, Dan Yang, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103504- (2024)
We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that re
Externí odkaz:
https://doaj.org/article/c6ff70ac431548a9ac463d8fef195bd2
Autor:
Isabella Varea, Benjamin Joseph, Kevin Emmerich, Sahana Manohar-Sindhu, Jizhong Zou, Kip Friend, Xuming Tang, Dan Yang, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103517- (2024)
Induced pluripotent stem cells (iPSCs) were successfully generated from peripheral blood mononuclear cells obtained from two patients with a heterozygous mutation in the CDC42 gene. Both iPSC lines expressed pluripotency markers, differentiated into
Externí odkaz:
https://doaj.org/article/e6428d47be9f40b59809f9135e7a00c3
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:
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:
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. 64:102933
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::729c5a46e78343d53f777ab2ddd9d396
https://doi.org/10.1016/j.scr.2022.102933
https://doi.org/10.1016/j.scr.2022.102933
Autor:
Alberto Iannuzzo, Selket Delafontaine, Rana El Masri, Rachida Tacine, Giusi Prencipe, Masahiko Nishitani-Isa, Rogier T. A. van Wijck, Farzana Bhuyan, Adriana A. de Jesus Rasheed, Simona Coppola, Paul L. A. van Daele, Antonella Insalaco, Raphaela Goldbach-Mansky, Takahiro Yasumi, Marco Tartaglia, Isabelle Meyts, Jérôme Delon
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Most autoinflammatory diseases are caused by mutations in innate immunity genes. Previously, four variants in the RHO GTPase CDC42 were discovered in patients affected by syndromes generally characterized by neonatal-onset of cytopenia and a
Externí odkaz:
https://doaj.org/article/17cad2248ee74a9f993423959575bbb9