Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Mansky

Showing results (461-470 of 525) with videos related to

Pageof 53
Sort By:
Molecular Genetics and Metabolism|July 5, 2022
Hematologic abnormalities in Aicardi Goutières SyndromeLaura A Adang, Francesco Gavazzi, Russell D'Aiello, et al.
Nature Communications|November 16, 2024
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stressAlberto Iannuzzo, Selket Delafontaine, Rana El Masri, et al.
Arthritis and Rheumatism|December 1, 2011
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from BrazilAdriana A Jesus, Mazen Osman, Clovis A Silva, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2011
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockadeSilvia Stojanov, Sivia Lapidus, Puja Chitkara, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
The Journal of Clinical Investigation|June 26, 2025
Dynamics of Th1/Th17 responses and antimicrobial pathways in leprosy skin lesionsPriscila R Andrade, Feiyang Ma, Jing Lu, et al.
Immunity|May 31, 2025
A CD4<sup>+</sup> T cell-intrinsic complement C5aR2-prostacyclin-IL-1R2 axis orchestrates Th1 cell contractionJubayer Rahman, Jack A Bibby, Parul Singh, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 11, 2016
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia SyndromeMary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach-Mansky, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesisClayton W Winkler, Benjamin Schwarz, Katie Williams, et al.
American Journal of Human Genetics|April 24, 2012
PSORS2 is due to mutations in CARD14Catherine T Jordan, Li Cao, Elisha D O Roberson, et al.
Pageof 53

Showing results (461-470 of 525) with videos related to

Sort By:
Pageof 53
Molecular Genetics and Metabolism|July 5, 2022
Hematologic abnormalities in Aicardi Goutières SyndromeLaura A Adang, Francesco Gavazzi, Russell D'Aiello, et al.
Nature Communications|November 16, 2024
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stressAlberto Iannuzzo, Selket Delafontaine, Rana El Masri, et al.
Arthritis and Rheumatism|December 1, 2011
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from BrazilAdriana A Jesus, Mazen Osman, Clovis A Silva, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2011
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockadeSilvia Stojanov, Sivia Lapidus, Puja Chitkara, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
The Journal of Clinical Investigation|June 26, 2025
Dynamics of Th1/Th17 responses and antimicrobial pathways in leprosy skin lesionsPriscila R Andrade, Feiyang Ma, Jing Lu, et al.
Immunity|May 31, 2025
A CD4<sup>+</sup> T cell-intrinsic complement C5aR2-prostacyclin-IL-1R2 axis orchestrates Th1 cell contractionJubayer Rahman, Jack A Bibby, Parul Singh, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 11, 2016
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia SyndromeMary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach-Mansky, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesisClayton W Winkler, Benjamin Schwarz, Katie Williams, et al.
American Journal of Human Genetics|April 24, 2012
PSORS2 is due to mutations in CARD14Catherine T Jordan, Li Cao, Elisha D O Roberson, et al.
Pageof 53