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Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.
Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki AE. Kettunen KM, et al. Among authors: lehesjoki ae. Biol Open. 2016 May 15;5(5):584-95. doi: 10.1242/bio.016246. Biol Open. 2016. PMID: 27044324 Free PMC article.
Mulibrey nanism--a novel peroxisomal disorder.
Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Kallijärvi J, et al. Among authors: lehesjoki ae. Adv Exp Med Biol. 2003;544:31-7. doi: 10.1007/978-1-4419-9072-3_3. Adv Exp Med Biol. 2003. PMID: 14713209 Review. No abstract available.
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Hämäläinen RH, et al. Among authors: lehesjoki ae. Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233. Hum Mutat. 2004. PMID: 15108285
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: lehesjoki ae. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978
247 results