Biblio

Author Title Type [ Year(Asc)]
Filters: Author is Varjosalo, Markku  [Clear All Filters]
2024
Norppa AJ, Chowdhury I, van Rooijen LE, Ravantti JJ, Snel B, Varjosalo M, Frilander MJ. Distinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome. Nucleic Acids Res. 2024.
Gawriyski L, Tan Z, Liu X, Chowdhury I, Pinar DMalaymar, Zhang Q, Weltner J, Jouhilahti E-M, Wei G-H, Kere J, et al. Interaction network of human early embryonic transcription factors. EMBO Rep. 2024.
2023
Konovalova S, Torregrosa-Muñumer R, Manjunath P, Liu X, Baral S, Fatima K, Holopainen M, Kvist J, Rajendran J, Yang Y, et al. Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure. Proc Natl Acad Sci U S A. 2023;120(30):e2210599120.
2022
Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, et al. Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Clin Immunol. 2022:109181.
Yoshihara M, Kirjanov I, Nykänen S, Sokka J, Weltner J, Lundin K, Gawriyski L, Jouhilahti E-M, Varjosalo M, Tervaniemi MH, et al. Transient DUX4 expression in human embryonic stem cells induces blastomere-like expression program that is marked by SLC34A2. Stem Cell Reports. 2022.
2020
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, et al. Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol. 2020.
Hietamäki J, Gregory LC, Ayoub S, Iivonen A-P, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Känsäkoski J, et al. Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. J Clin Endocrinol Metab. 2020.