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Molecular Genetics and Metabolism
|
July 5, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Laura 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 stress
Alberto 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 Brazil
Adriana 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 blockade
Silvia 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 spots
Thais 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 lesions
Priscila 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 contraction
Jubayer 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 Syndrome
Mary 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 synthesis
Clayton W Winkler, Benjamin Schwarz, Katie Williams, et al.
American Journal of Human Genetics
|
April 24, 2012
PSORS2 is due to mutations in CARD14
Catherine T Jordan, Li Cao, Elisha D O Roberson, et al.
Page
of 53
Search research articles
Search
Showing results (461-470 of 525) with videos related to
Sort By:
Page
of 53
Molecular Genetics and Metabolism
|
July 5, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Laura 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 stress
Alberto 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 Brazil
Adriana 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 blockade
Silvia 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 spots
Thais 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 lesions
Priscila 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 contraction
Jubayer 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 Syndrome
Mary 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 synthesis
Clayton W Winkler, Benjamin Schwarz, Katie Williams, et al.
American Journal of Human Genetics
|
April 24, 2012
PSORS2 is due to mutations in CARD14
Catherine T Jordan, Li Cao, Elisha D O Roberson, et al.
Page
of 53