Search Results - "VAHTERISTO, P"

Systematic molecular and clinical analysis of uterine leiomyomas from fertile-aged women undergoing myomectomy by Äyräväinen, A, Pasanen, A, Ahvenainen, T, Heikkinen, T, Pakarinen, P, Härkki, P, Vahteristo, P

“…What are the distributions and associated clinical characteristics of mediator complex subunit 12 (MED12), high mobility group AT-hook 2 (HMGA2) and fumarate…”
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Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer by Kämpjärvi, K, Mäkinen, N, Kilpivaara, O, Arola, J, Heinonen, H-R, Böhm, J, Abdel-Wahab, O, Lehtonen, H J, Pelttari, L M, Mehine, M, Schrewe, H, Nevanlinna, H, Levine, R L, Hokland, P, Böhling, T, Mecklin, J-P, Bützow, R, Aaltonen, L A, Vahteristo, P

“…Background: Mediator complex participates in transcriptional regulation by connecting regulatory DNA sequences to the RNA polymerase II initiation complex…”
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ATRX expression and ALT phenotype in uterine leiomyomas by Ahvenainen, T, Mäkinen, N, Bützow, R, Vahteristo, P

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Identification of 33 candidate oncogenes by screening for base-specific mutations by Tuupanen, S, Hänninen, U A, Kondelin, J, von Nandelstadh, P, Cajuso, T, Gylfe, A E, Katainen, R, Tanskanen, T, Ristolainen, H, Böhm, J, Mecklin, J-P, Järvinen, H, Renkonen-Sinisalo, L, Andersen, C L, Taipale, M, Taipale, J, Vahteristo, P, Lehti, K, Pitkänen, E, Aaltonen, L A

“…Background: Genes with recurrent codon-specific somatic mutations are likely drivers of tumorigenesis and potential therapeutic targets. Hypermutable cancers…”
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Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas by Mäkinen, N, Heinonen, H-R, Sjöberg, J, Taipale, J, Vahteristo, P, Aaltonen, L A

“…Background: Kinase module of Mediator complex (‘CDK8 submodule’) consists of four subunits: CDK8, Cyclin C, MED12, and MED13. Recently, we reported recurrent…”
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CHEK2 I157T associates with familial and sporadic colorectal cancer by Kilpivaara, O, Alhopuro, P, Vahteristo, P, Aaltonen, L A, Nevanlinna, H

“…Background: Recently, a functionally defective CHEK2 variant I157T has been proposed to associate with an increased risk of several types of cancer. We…”
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Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening by Tolvanen, Jaana, Uimari, Outi, Ryynänen, Markku, Aaltonen, Lauri A., Vahteristo, Pia

“…Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and renal cell…”
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Somatic MED12 exon 1 nonsense mutation in T-cell acute lymphoblastic leukemia escapes nonsense-mediated mRNA decay and prevents protein nuclear localization by Kämpjärvi, K, Heikkinen, T, Keskitalo, S, Von Nandelstadh, P, Rantanen, V, Pitkänen, E, Lehti, K, Mustjoki, S, Varjosalo, M, Vahteristo, P

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Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers by GEORGITSI, M, KARHU, A, WINQVIST, R, VISAKORPI, T, WALTERING, K, VAHTERISTO, P, LAUNONEN, V, AALTONEN, L. A

“…Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently identified in individuals with pituitary adenoma…”
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The MDM2 promoter polymorphism SNP309T→G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck by Alhopuro, P, Ylisaukko-oja, S K, Koskinen, W J, Bono, P, Arola, J, Järvinen, H J, Mecklin, J-P, Atula, T, Kontio, R, Mäkitie, A A, Suominen, S, Leivo, I, Vahteristo, P, Aaltonen, L-M, Aaltonen, L A

“…Background: MDM2 acts as a principal regulator of the tumour suppressor p53 by targeting its destruction through the ubiquitin pathway. A polymorphism in the…”
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No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia by Raitila, A, Georgitsi, M, Karhu, A, Tuppurainen, K, Mäkinen, M J, Birkenkamp-Demtröder, K, Salmenkivi, K, Ørntoft, T F, Arola, J, Launonen, V, Vahteristo, P, Aaltonen, L A

“…Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were recently observed in patients with pituitary adenoma predisposition…”
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A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families by VAHTERISTO, P, EEROLA, H, TAMMINEN, A, BLOMQVIST, C, NEVANLINNA, H

“…Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast and ovarian cancer. Our aim was to find associations between the clinical…”
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Thermodynamically Traceable Calorimetric Results for Dilute Aqueous Potassium Chloride Solutions at Temperatures from 273.15 to 373.15 K. Part 2. The Quantities Associated with the Partial Molar Heat Capacity by Partanen, Jaakko I, Partanen, Lauri J, Vahteristo, Kari P

“…In previous articles ( Partanen J. Chem. Eng. Data 2019, 64, 16−33 and Partanen J. Chem. Eng. Data 2019, 64, 2519–2535 ), we presented traceable and…”
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Thermodynamically Traceable Calorimetric Results for Dilute Aqueous Potassium Chloride Solutions at Temperatures from (273.15 to 373.15) K. Part 1. The Quantities Associated with the Partial Molar Enthalpy by Partanen, Jaakko I, Partanen, Lauri J, Vahteristo, Kari P

“…In our previous study (Partanen, J. I.; Partanen, L. J.; Vahteristo, K. P., J. Chem. Eng. Data 2019, 64, 16–33), we presented a fully traceable two-parameter…”
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Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition by Vierimaa, O., Villablanca, A., Alimov, A., Georgitsi, M., Raitila, A., Vahteristo, P., Larsson, C., Ruokonen, A., Eloranta, E., Ebeling, T. M. L., Ignatius, J., Aaltonen, L. A., Leisti, J., Salmela, P. I.

“…Objective : Primary hyperparathyroidism (PHPT), a common endocrine condition, is usually caused by sporadically occurring parathyroid adenoma. A subset of…”
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Traceable Thermodynamic Quantities for Dilute Aqueous NaCl Solutions at Temperatures from (353.15 to 383.15) K and for Dilute Aqueous KCl Solutions from (273.15 to 383.15) K by Partanen, Jaakko I, Partanen, Lauri J, Vahteristo, Kari P

“…We present fully traceable two-parameter Hückel equations with parameters B and b 1 for the activity coefficient of sodium chloride and for the osmotic…”
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Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease by Vahteristo, P, Kokko, A, Saksela, O, Aittomäki, K, Aaltonen, L A

“…Identification of new disease predisposition genes with chip-based technologies typically requires extensive financial and sample resources. We have recently…”
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Traceable Thermodynamic Quantities for Dilute Aqueous Sodium Chloride Solutions at Temperatures from (0 to 80) °C. Part 1. Activity Coefficient, Osmotic Coefficient, and the Quantities Associated with the Partial Molar Enthalpy by Partanen, Jaakko I, Partanen, Lauri J, Vahteristo, Kari P

“…We present fully traceable two-parameter Hückel equations (with parameters B and b 1) for the activity coefficient of sodium chloride and for the osmotic…”
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Traceable Thermodynamic Quantities for Dilute Aqueous Sodium Chloride Solutions at Temperatures from (0 to 80) °C. Part 2. The Quantities Associated with the Partial Molar Heat Capacity by Partanen, Jaakko I, Partanen, Lauri J, Vahteristo, Kari P

“…In Part 1 of this two-part study (J. Chem. Eng. Data 2017, 62, 2617–2632), we presented fully traceable two-parameter Hückel equations (with parameters B and…”
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Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer by Raitila, A., Georgitsi, M., Bonora, E., Vargiolu, M., Tuppurainen, K., Mäkinen, M. J., Vierimaa, O., Salmela, P. I., Launonen, V., Vahteristo, P., Aaltonen, L. A., Romeo, G., Karhu, Auli

“…Background : Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as…”
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