Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

P Luoma, A Melberg, JO Rinne, JA Kaukonen… - The Lancet, 2004 - thelancet.com
Background Mutations in the gene encoding mitochondrial DNA polymerase γ (POLG), the
enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a …

[PDF][PDF] Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

S Vanharanta, M Buchta, SR McWhinney… - The American Journal of …, 2004 - cell.com
Hereditary paraganglioma syndrome has recently been shown to be caused by germline
heterozygous mutations in three (SDHB, SDHC, and SDHD) of the four genes that encode …

Genetic alterations in hormone-refractory recurrent prostate carcinomas

NN Nupponen, L Kakkola, P Koivisto… - The American journal of …, 1998 - Elsevier
To study the genetic basis of tumor progression, we have screened 37 hormone-refractory
prostate carcinomas for genetic changes by comparative genomic hybridization (CGH). All …

Amplification of KIT, PDGFRA, VEGFR2, and EGFR in Gliomas

M Puputti, O Tynninen, H Sihto, T Blom… - Molecular Cancer …, 2006 - AACR
Receptor tyrosine kinase aberrations are implicated in the genesis of gliomas. We
investigated expression and amplification of KIT, PDGFRA, VEGFR2, and EGFR in 87 …

Amplification of genes encoding KIT, PDGFRα and VEGFR2 receptor tyrosine kinases is frequent in glioblastoma multiforme

H Joensuu, M Puputti, H Sihto… - The Journal of …, 2005 - Wiley Online Library
KIT, platelet‐derived growth factor receptors (PDGFRs) and vascular endothelial growth
factor receptors (VEGFRs) are important clinical targets for tyrosine kinase inhibitors. The …

[PDF][PDF] KIT and Platelet-Derived Growth Factor Receptor Alpha Tyrosine Kinase Gene Mutations and KIT Amplifications in Human Solid Tumors

H Sihto, M Sarlomo-Rikala, O Tynninen… - Journal of clinical …, 2005 - researchgate.net
Purpose Mutated KIT and platelet-derived growth factor receptor alpha (PDGFRα) tyrosine
kinases are the principal targets for imatinib mesylate in the treatment of gastrointestinal …

Gene amplification, mutation, and protein expression of EGFR and mutations of ERBB2 in serous ovarian carcinoma

H Lassus, H Sihto, A Leminen, H Joensuu… - Journal of molecular …, 2006 - Springer
EGFR and erbB-2 are targets for specific cancer therapy. The purpose of this study was to
examine the frequency and clinicopathological correlations of gene amplification, protein …

Gastrointestinal Stromal Tumors with KIT Mutations Exhibit a Remarkably Homogeneous Gene Expression Profile

SV Allander, NN Nupponen, M Ringnér, G Hostetter… - Cancer Research, 2001 - AACR
Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the
digestive tract, are believed to arise from the interstitial cells of Cajal. GISTs are …

Amplification and overexpression of p40 subunit of eukaryotic translation initiation factor 3 in breast and prostate cancer

NN Nupponen, K Porkka, L Kakkola, M Tanner… - The American journal of …, 1999 - Elsevier
Amplification at the long arm of chromosome 8 occurs in a large fraction of breast and
prostate cancers. To clone the target genes for this amplification, we used suppression …

Amplification of EIF3S3 gene is associated with advanced stage in prostate cancer

O Saramäki, N Willi, O Bratt, TC Gasser… - The American journal of …, 2001 - Elsevier
Gain of the long arm of chromosome 8 (8q) is one of the most common gains found in the
advanced prostate cancer by comparative genomic hybridization. We have previously …