Paunio T - Search Results

1

Phenotype mining in CNV carriers from a population cohort.

Pietiläinen OP, Rehnström K, Jakkula E, Service SK, Congdon E, Tilgmann C, Hartikainen AL, Taanila A, Heikura U, Paunio T, Ripatti S, Jarvelin MR, Isohanni M, Sabatti C, Palotie A, Freimer NB, Peltonen L. Pietiläinen OP, et al. Among authors: paunio t. Hum Mol Genet. 2011 Jul 1;20(13):2686-95. doi: 10.1093/hmg/ddr162. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505072 Free PMC article.

2

Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

Paunio T, Kiuru S, Hongell V, Mustonen E, Syvänen AC, Bengström M, Palo J, Peltonen L. Paunio T, et al. Genomics. 1992 May;13(1):237-9. doi: 10.1016/0888-7543(92)90235-k. Genomics. 1992. PMID: 1315718 No abstract available.

3

Applications of PCR in the diseases of genetic isolates.

Peltonen L, Ikonen E, Paunio T. Peltonen L, et al. Among authors: paunio t. Ann Med. 1992 Jun;24(3):191-4. doi: 10.3109/07853899209147820. Ann Med. 1992. PMID: 1627315 No abstract available.

4

Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.

Paunio T, Sunada Y, Kiuru S, Makishita H, Ikeda S, Weissenbach J, Palo J, Peltonen L. Paunio T, et al. Hum Mutat. 1995;6(1):60-5. doi: 10.1002/humu.1380060112. Hum Mutat. 1995. PMID: 7550233

5

Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.

Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L. Paunio T, et al. Hum Mol Genet. 1994 Dec;3(12):2223-9. doi: 10.1093/hmg/3.12.2223. Hum Mol Genet. 1994. PMID: 7881424

6

In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis.

Kangas H, Paunio T, Kalkkinen N, Jalanko A, Peltonen L. Kangas H, et al. Among authors: paunio t. Hum Mol Genet. 1996 Sep;5(9):1237-43. doi: 10.1093/hmg/5.9.1237. Hum Mol Genet. 1996. PMID: 8872462

7

Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.

Paunio T, Kangas H, Kiuru S, Palo J, Peltonen L, Syvänen AC. Paunio T, et al. FEBS Lett. 1997 Apr 7;406(1-2):49-55. doi: 10.1016/s0014-5793(97)00237-8. FEBS Lett. 1997. PMID: 9109384 Free article.

8

Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.

Peltola M, Kyttälä A, Heinonen O, Rapola J, Paunio T, Revah F, Peltonen L, Jalanko A. Peltola M, et al. Among authors: paunio t. Gene Ther. 1998 Oct;5(10):1314-21. doi: 10.1038/sj.gt.3300740. Gene Ther. 1998. PMID: 9930336

9

Functional consequences of amyloidosis mutation for gelsolin polypeptide -- analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts.

Kangas H, Ulmanen I, Paunio T, Kwiatkowski DJ, Lehtovirta M, Jalanko A, Peltonen L. Kangas H, et al. Among authors: paunio t. FEBS Lett. 1999 Jul 9;454(3):233-9. doi: 10.1016/s0014-5793(99)00790-5. FEBS Lett. 1999. PMID: 10431814 Free article.

10

Expression of palmitoyl protein thioesterase in neurons.

Heinonen O, Kyttälä A, Lehmus E, Paunio T, Peltonen L, Jalanko A. Heinonen O, et al. Among authors: paunio t. Mol Genet Metab. 2000 Feb;69(2):123-9. doi: 10.1006/mgme.2000.2961. Mol Genet Metab. 2000. PMID: 10720439

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