A persistent variant telomere sequence in a human pedigree
Hinchie, Angela M., Sanford, Samantha L., Loughridge, Kelly E., Sutton, Rachel M., Parikh, Anishka H., Gil Silva, Agustin A., Sullivan, Daniel I., Chun-On, Pattra, Morrell, Matthew R., McDyer, John F., Opresko, Patricia L., Alder, Jonathan K.
Published in Nature communications (01.06.2024)
Published in Nature communications (01.06.2024)
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IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency
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Published in Frontiers in pediatrics (09.05.2024)
Published in Frontiers in pediatrics (09.05.2024)
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TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma
Chun-On, Pattra, Hinchie, Angela M, Beale, Holly C, Gil Silva, Agustin A, Rush, Elizabeth, Sander, Cindy, Connelly, Carla J, Seynnaeve, Brittani K N, Kirkwood, John M, Vaske, Olena M, Greider, Carol W, Alder, Jonathan K
Published in Science (American Association for the Advancement of Science) (11.11.2022)
Published in Science (American Association for the Advancement of Science) (11.11.2022)
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A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity
Stojkic, Ivana, Prince, Benjamin T., Kuehn, Hye Sun, Gil Silva, Agustin A., Varga, Elizabeth A., Rosenzweig, Sergio D., Ramadesikan, Swetha, Supinger, Rachel, Marhabaie, Mohammad, Chang, Peter, Mardis, Elaine R., Koboldt, Daniel C.
Published in Clinical immunology (Orlando, Fla.) (01.07.2024)
Published in Clinical immunology (Orlando, Fla.) (01.07.2024)
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Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains
Kuehn, Hye Sun, Sakovich, Inga S, Niemela, Julie E, Gil Silva, Agustin A, Stoddard, Jennifer L, Polyakova, Ekaterina A, Esteve Sole, Ana, Aleshkevich, Svetlana N, Uglova, Tatjana A, Belevtsev, Mikhail V, Vertelko, Vladislav R, Shman, Tatsiana V, Kupchinskaya, Aleksandra N, Walter, Jolan E, Fleisher, Thomas A, Notarangelo, Luigi D, Peng, Xiao P, Delmonte, Ottavia M, Sharapova, Svetlana O, Rosenzweig, Sergio D
Published in The Journal of clinical investigation (01.02.2024)
Published in The Journal of clinical investigation (01.02.2024)
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3-OR: Hepatocyte Gdf15 Is Sufficient for Increased Plasma GDF15 Levels and Body Weight Constraint during High-Fat–Diet Feeding and Restores Insulin Sensitivity in a Liver-Specific Manner
XIE, BINGXIAN, MURALI, ANJANA, VANDEVENDER, AMBER, GIL SILVA, AGUSTIN A., BELLO, FIONA, SIPULA, IAN J., DEDOUSIS, NIKOLAOS, ALDER, JONATHAN, JURCZAK, MICHAEL J.
Published in Diabetes (New York, N.Y.) (01.06.2022)
Published in Diabetes (New York, N.Y.) (01.06.2022)
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1368-P: Skeletal Muscle Mitochondrial Dysfunction Contributes to Increased GDF15 Levels in Aged Mice with Insulin Resistance and Sarcopenia
CHEN, JEFFREY, BELLO, FIONA, KASTROLL, JAKE, VANDEVENDER, AMBER, PANGBURN, MARTHA, SILVA, AGUSTIN A. GIL, SIPULA, IAN J., ALDER, JONATHAN, JURCZAK, MICHAEL J.
Published in Diabetes (New York, N.Y.) (01.06.2022)
Published in Diabetes (New York, N.Y.) (01.06.2022)
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Journal Article
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains
Kuehn, Hye Sun, Sakovich, Inga S, Niemela, Julie E, Silva, Agustin A Gil, Stoddard, Jennifer L, Polyakova, Ekaterina A, Sole, Ana Esteve, Aleshkevich, Svetlana N, Uglova, Tatjana A, Belevtsev, Mikhail V, Vertelko, Vladislav R, Shman, Tatsiana V, Kupchinskaya, Aleksandra N, Walter, Jolan E, Fleisher, Thomas A, Notarangelo, Luigi D, Peng, Xiao P, Delmonte, Ottavia M, Sharapova, Svetlana O, Rosenzweig, Sergio D
Published in The Journal of clinical investigation (01.02.2024)
Published in The Journal of clinical investigation (01.02.2024)
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