Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Anna, Tervasmäki"'
Autor:
Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs
Publikováno v:
PLoS Genetics, Vol 19, Iss 8, p e1010889 (2023)
Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer suscepti
Externí odkaz:
https://doaj.org/article/39bcaeff36374f21a232d35722e005e7
Autor:
Lauri Holmström, Katri Pylkäs, Anna Tervasmäki, Juha Vähätalo, Katja Porvari, Lasse Pakanen, Kari S. Kaikkonen, Juha S. Perkiömäki, Antti M. Kiviniemi, Risto Kerkelä, Olavi Ukkola, Robert J. Myerburg, Heikki V. Huikuri, Juhani Junttila
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract The contribution of genetic variants to non-ischemic sudden cardiac death (SCD) due to acquired myocardial diseases is unclear. We studied whether SCD victims with hypertension/obesity related hypertrophic myocardial disease harbor potential
Externí odkaz:
https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b
Autor:
Timo Kumpula, Anna Tervasmäki, Tuomo Mantere, Susanna Koivuluoma, Laura Huilaja, Kaisa Tasanen, Robert Winqvist, Richarda M. deVoer, Katri Pylkäs
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
ABSTRACT Background Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal polyposis, a
Externí odkaz:
https://doaj.org/article/2b80213427474918929055ee28d4513a
Autor:
Tuomo Mantere, Anna Tervasmäki, Anna Nurmi, Katrin Rapakko, Saila Kauppila, Jiangbo Tang, Johanna Schleutker, Anne Kallioniemi, Jaana M. Hartikainen, Arto Mannermaa, Pentti Nieminen, Riitta Hanhisalo, Sini Lehto, Maija Suvanto, Mervi Grip, Arja Jukkola-Vuorinen, Maria Tengström, Päivi Auvinen, Anders Kvist, Åke Borg, Carl Blomqvist, Kristiina Aittomäki, Roger A. Greenberg, Robert Winqvist, Heli Nevanlinna, Katri Pylkäs
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Abstract Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel s
Externí odkaz:
https://doaj.org/article/b72aaf16c63e42cd88fb7a2a6ef6294a
Autor:
Susanna Koivuluoma, Sandra Vorimo, Tiina M. Mattila, Anna Tervasmäki, Timo Kumpula, Outi Kuismin, Robert Winqvist, Jukka Moilanen, Tuomo Mantere, Katri Pylkäs
TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow fai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82ca51eaee43bed77387d88cb2876ed
http://urn.fi/urn:nbn:fi-fe2023053150756
http://urn.fi/urn:nbn:fi-fe2023053150756
Autor:
Minna Kankuri‐Tammilehto, Anna Tervasmäki, Minna Kraatari‐Tiri, Elisa Rahikkala, Katri Pylkäs, Outi Kuismin
Publikováno v:
International journal of cancerREFERENCES. 152(3)
ATM is generally described as a moderate-risk breast cancer susceptibility gene. However, some of ATM variants might encounter higher risk. ATM c.7570GC, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for recessively in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3249ab08cbc5d63a76651d7ebb02c4cc
https://pubmed.ncbi.nlm.nih.gov/36161273
https://pubmed.ncbi.nlm.nih.gov/36161273
Autor:
Tuomo Mantere, Robert Winqvist, Saila Kauppila, Mervi Grip, Arja Jukkola-Vuorinen, Anna Tervasmäki, Katrin Rapakko, Katri Pylkäs
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005816 (2016)
Breast cancer is strongly influenced by hereditary risk factors, a majority of which still remain unknown. Here, we performed a targeted next-generation sequencing of 796 genes implicated in DNA repair in 189 Finnish breast cancer cases with indicati
Externí odkaz:
https://doaj.org/article/0e3b95c8f174442f84359ff55daa3ece
Autor:
Kari S. Kaikkonen, Risto Kerkelä, Katri Pylkäs, Lauri Holmström, Antti M. Kiviniemi, Juhani Junttila, Katja Porvari, Juha S. Perkiömäki, Heikki V. Huikuri, Juha Vähätalo, Olavi Ukkola, Robert J. Myerburg, Anna Tervasmäki, Lasse Pakanen
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports
Scientific Reports
The contribution of genetic variants to non-ischemic sudden cardiac death (SCD) due to acquired myocardial diseases is unclear. We studied whether SCD victims with hypertension/obesity related hypertrophic myocardial disease harbor potentially diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff5f6fe356635fc406ec8e450e8995c6
https://doi.org/10.1038/s41598-021-90693-7
https://doi.org/10.1038/s41598-021-90693-7
Autor:
Anna Tervasmäki, Robert Winqvist, Jukka S. Moilanen, Timo Kumpula, Saila Kauppila, Susanna Koivuluoma, Katri Pylkäs, Outi Kuismin
Publikováno v:
European journal of cancer (Oxford, England : 1990). 143
Background Breast cancer is strongly influenced by hereditary risk factors. Yet, the known susceptibility genes and genomic loci explain only about half of the familial component of the disease. To identify novel breast cancer predisposing gene defec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::944fa7f8c744f824e5bfffcc2e6185f9
https://pubmed.ncbi.nlm.nih.gov/33279852
https://pubmed.ncbi.nlm.nih.gov/33279852
Autor:
Arto Mannermaa, Saila Kauppila, Katri Pylkäs, Mervi Grip, Arja Jukkola-Vuorinen, Robert Winqvist, Tuomo Mantere, Susanna Koivuluoma, Peeter Karihtala, Jaana M. Hartikainen, Anna Tervasmäki, Hang-Mao Lee
Publikováno v:
International Journal of Cancer. 142:2286-2292
Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6a026fe515b357da2e880dc27bf257f
https://doi.org/10.1002/ijc.31259
https://doi.org/10.1002/ijc.31259