Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jukka, Moilanen"'
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:
Tekla Järviaho, Benedicte Bang, Vasilios Zachariadis, Fulya Taylan, Jukka Moilanen, Merja Möttönen, C.I. Edvard Smith, Arja Harila-Saari, Riitta Niinimäki, Ann Nordgren
Publikováno v:
Blood Advances, Vol 3, Iss 18, Pp 2722-2731 (2019)
Pathogenic germline variants in ETV6 have been associated with familial predisposition to thrombocytopenia and hematological malignancies, predominantly childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In addition, overrepresentatio
Externí odkaz:
https://doaj.org/article/b83f8f0bce164e16b7b1d2a0966f7ea8
Autor:
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single ge
Externí odkaz:
https://doaj.org/article/1fc9affd647845a3af9208be55433db4
Autor:
Timo A. Kumpula, Susanna Koivuluoma, Leila Soikkonen, Sandra Vorimo, Jukka Moilanen, Robert Winqvist, Tuomo Mantere, Outi Kuismin, Katri Pylkäs
Publikováno v:
Familial Cancer.
CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0228cb95e1ff35c2684a296be795607e
https://doi.org/10.1007/s10689-023-00327-2
https://doi.org/10.1007/s10689-023-00327-2
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:
Steve A. Arshinoff, Bjorn Alvar Johansson, Charles Claoué, David Pérez Silguero, Susan Riyu Qi, Mike Yuan Chen, Mélanie Hébert, David Chang, Ike Iqbal Ahmed, Edna Almodin, Jean-Marie Andre, Haripriya Aravind, Ehud I. Assia, Charles Bekibele, John Bolger, Lisandro Carnielli, James A. Carolan, Dalibor Cholevik, Faye Dance, Petra Davidova, Erin L. Dohaney, Kristen A. Eckert, Bob Edwards, Jeronimo Fabiani Beng, Ivo Ferreira Rios, Oliver Findl, Oliver Yañez Garcia, Ivo Guber, Josef Guber, Rishi Gupta, Warren Hill, Huck A. Holz, Thomas Kohnen, Kari Krootila, Johann Kruger, Laurent Lalonde, Van Charles Lansingh, Michael Lawless, Mun Wai Lee, Y.C. Lee, Marie Eve Légaré, Francisco Sánchez Leon, Christopher Liu, Bita Manzouri, Samuel Masket, Keiki R. Mehta, Cyres Mehta, Syed Farzad Mohammadi, Jukka Moilanen, Magdalena Nenning, Rudy M.M.A. Nuits, Tom Oetting, Saif Bani Oraba, Madhavi Panchamia, Austin Pereira, Miguel Angel Pérez Silguero, R.D. Ravindran, Sloan Rush, Amulya Sahu, Chinmaya Sahu, Rocio Sánchez Sanoja, Steve Schallhorn, Dr. Ahmed Shalaby Bardan, Sewa Singal, Kevin Smith, Lindsay S. Spekreijse, Kent Stiverson, Pavel Stodulka, Yi Ning J. Strube, Jörg Stürmer, Ronit Yagev, Eunice You, Mehran Zarei-Ghanavati
Publikováno v:
Immediately Sequential Bilateral Cataract Surgery (ISBCS) ISBN: 9780323953092
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::123063a2d88d9f49d0d8cbcdf1903c87
https://doi.org/10.1016/b978-0-323-95309-2.01002-3
https://doi.org/10.1016/b978-0-323-95309-2.01002-3
Publikováno v:
Colloids and Surfaces B: Biointerfaces. 223:113145
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da727b85dd8b9d4dc3a3838cf28aa52d
https://doi.org/10.1016/j.colsurfb.2023.113145
https://doi.org/10.1016/j.colsurfb.2023.113145
Publikováno v:
European childadolescent psychiatry.
Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological spectrum of SD’s clinical phenotype is well defined,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7caf1991884831e28de414af7148eb87
https://pubmed.ncbi.nlm.nih.gov/35796883
https://pubmed.ncbi.nlm.nih.gov/35796883
Publikováno v:
Nano letters. 21(18)
In healthy eyes, the tear film lipid layer (TFLL) is considered to act as an evaporation resistant barrier, which prevents eyes from drying. Seeking to understand the mechanisms behind the evaporation resistance of the TFLL, we studied mixtures of li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1d9a210f1d6cdee6d561370223e7f0be
https://pubmed.ncbi.nlm.nih.gov/34468151
https://pubmed.ncbi.nlm.nih.gov/34468151