Progressive Impairment of Prepubertal Growth in Children With APECED

Saari, V., Alanko, V., Holopainen, E., Mäkitie, O. & Laakso, S., Feb 2025, In: Journal of Clinical Endocrinology and Metabolism. 110, 2, p. e257–e265 9 p.

Research output: Contribution to journal › Article › Scientific › peer-review

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion

Ochoa, S., Hsu, A. P., Oler, A. J., Kumar, D., Chauss, D., van Hamburg, J. P., van Laar, G. G., Oikonomou, V., Ganesan, S., Ferré, E. M. N., Schmitt, M. M., DiMaggio, T., Barber, P., Constantine, G. M., Rosen, L. B., Auwaerter, P. G., Gandhi, B., Miller, J. L., Eisenberg, R. & Rubinstein, A. & 29 others, Schussler, E., Balliu, E., Shashi, V., Neth, O., Olbrich, P., Le, K. M., Mamia, N., Laakso, S., Nevalainen, P. I., Grönholm, J., Seppänen, M. R. J., Boon, L., Uzel, G., Franco, L. M., Heller, T., Winer, K. K., Ghosh, R., Seifert, B. A., Walkiewicz, M., Notarangelo, L. D., Zhou, Q., Askentijevich, I., Gahl, W., Dalgard, C. L., Perera, L., Afzali, B., Tas, S. W., Holland, S. M. & Lionakis, M. S., 18 Sept 2024, In: Science translational medicine. 16, 765, 16 p., eadk0845.

Research output: Contribution to journal › Article › Scientific › peer-review

A novel link between chronic inflammation and humanin regulation in children

Zhao, Y., Mäkitie, O., Laakso, S., Fedosova, V., Sävendahl, L. & Zaman, F., 23 Jan 2024, In: Frontiers in Endocrinology. 14, 12 p., 1142310.

Research output: Contribution to journal › Article › Scientific › peer-review

Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1

Hetemäki, I., Saari, V., Yohannes, D. A., Holopainen, E., Holster, T., Jokiranta, S., Mäyränpää, M. I., Virtanen, S., Mäkitie, O., Kekäläinen, E. & Laakso, S., 2024, In: Journal of Allergy and Clinical Immunology. 153, 6, p. 1736-1742 7 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model

FinnGen, Makkonen, K., Jännäri, M., Crisostomo, L., Kuusi, M., Patyra, K., Melnyk, V., Linnossuo, V., Ojala, J., Ravi, R., Lof, C., Mäkelä, J.-A., Miettinen, P., Laakso, S., Ojaniemi, M., Jääskeläinen, J., Laakso, M., Bossowski, F., Sawicka, B. & Stozek, K. & 5 others, Bossowski, A., Kleinau, G., Scheerer, P., Reeve, M. P. & Kero, J., 9 Jan 2024, In: JCI INSIGHT. 9, 4, 22 p., e167092.

Research output: Contribution to journal › Article › Scientific › peer-review