Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Katsuhito Yasuno"'
Autor:
Mark W. Youngblood, Zeynep Erson-Omay, Chang Li, Hinda Najem, Süleyman Coșkun, Evgeniya Tyrtova, Julio D. Montejo, Danielle F. Miyagishima, Tanyeri Barak, Sayoko Nishimura, Akdes Serin Harmancı, Victoria E. Clark, Daniel Duran, Anita Huttner, Timuçin Avşar, Yasar Bayri, Johannes Schramm, Julien Boetto, Matthieu Peyre, Maximilien Riche, Roland Goldbrunner, Nduka Amankulor, Angeliki Louvi, Kaya Bilgüvar, M. Necmettin Pamir, Koray Özduman, Türker Kilic, James R. Knight, Matthias Simon, Craig Horbinski, Michel Kalamarides, Marco Timmer, Amy B. Heimberger, Ketu Mishra-Gorur, Jennifer Moliterno, Katsuhito Yasuno, Murat Günel
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Hedgehog signaling mediates embryologic development of the central nervous system and other tissues and is frequently hijacked by neoplasia to facilitate uncontrolled cellular proliferation. Meningiomas, the most common primary brain tumor,
Externí odkaz:
https://doaj.org/article/32c53254d0434114aadc0376769d30b2
Autor:
Akdes Serin Harmancı, Mark W. Youngblood, Victoria E. Clark, Süleyman Coşkun, Octavian Henegariu, Daniel Duran, E. Zeynep Erson-Omay, Leon D. Kaulen, Tong Ihn Lee, Brian J. Abraham, Matthias Simon, Boris Krischek, Marco Timmer, Roland Goldbrunner, S. Bülent Omay, Jacob Baranoski, Burçin Baran, Geneive Carrión-Grant, Hanwen Bai, Ketu Mishra-Gorur, Johannes Schramm, Jennifer Moliterno, Alexander O. Vortmeyer, Kaya Bilgüvar, Katsuhito Yasuno, Richard A. Young, Murat Günel
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Meningiomas are mostly benign brain tumours with the potential for becoming atypical or malignant. Here, the authors show that primary atypical meningiomas are epigenetically and genetically distinct from benign and progressed tumours, highlighting p
Externí odkaz:
https://doaj.org/article/d27c23c5f6b847e4a5ce5684ebe1b356
Autor:
Akdes Serin Harmancı, Mark W. Youngblood, Victoria E. Clark, Süleyman Coşkun, Octavian Henegariu, Daniel Duran, E. Zeynep Erson-Omay, Leon D. Kaulen, Tong Ihn Lee, Brian J. Abraham, Matthias Simon, Boris Krischek, Marco Timmer, Roland Goldbrunner, S. Bülent Omay, Jacob Baranoski, Burçin Baran, Geneive Carrión-Grant, Hanwen Bai, Ketu Mishra-Gorur, Johannes Schramm, Jennifer Moliterno, Alexander O. Vortmeyer, Kaya Bilgüvar, Katsuhito Yasuno, Richard A. Young, Murat Günel
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
Nature Communications 8: Article number: 14433 (2017) Published online 14 February 2017; Updated 20 April 2018 In this Article, a subset of the H3K27ac ChIP-seq data (15 benign meningiomas and 2 dura samples (Sample IDs: MN-297, MN-288, MN-292, MN-16
Externí odkaz:
https://doaj.org/article/6f63b2d4e7c84e9b9c9b5b660f84a4ca
Autor:
Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel, Akdes Serin Harmanci, Ahmet Okay Caglayan, Hüseyin Çaksen, Jacob F Baranoski, Fesih Aktar, Gozde Tugce Akgumus, Emine Z. Erson-Omay
Publikováno v:
Journal of human genetics
WOS:000556668300001 PubMed ID32764695 Intellectual disability (ID) is a genetic and clinically heterogenous common disease and underlying molecular pathogenesis can frequently not be identified by whole- exome/genome testing. Here, we report 4 siblin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f967a954a55de9fbf109d40a227a3e
https://doi.org/10.1038/s10038-020-0820-0
https://doi.org/10.1038/s10038-020-0820-0
Autor:
Tanyeri Barak, Emma Ristori, A. Gulhan Ercan-Sencicek, Danielle F. Miyagishima, Carol Nelson-Williams, Weilai Dong, Sheng Chih Jin, Andrew Prendergast, William Armero, Octavian Henegariu, E. Zeynep Erson-Omay, Akdes Serin Harmancı, Mikhael Guy, Batur Gültekin, Deniz Kilic, Devendra K. Rai, Nükte Goc, Stephanie Marie Aguilera, Burcu Gülez, Selin Altinok, Kent Ozcan, Yanki Yarman, Süleyman Coskun, Emily Sempou, Engin Deniz, Jared Hintzen, Andrew Cox, Elena Fomchenko, Su Woong Jung, Ali Kemal Ozturk, Angeliki Louvi, Kaya Bilgüvar, E. Sander Connolly, Mustafa K. Khokha, Kristopher T. Kahle, Katsuhito Yasuno, Richard P. Lifton, Ketu Mishra-Gorur, Stefania Nicoli, Murat Günel
Publikováno v:
Nat Med
Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although genome-wide association studies have identified common genetic variants that increase IA risk moderatel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7817c65fc2a4f182cf89bd08499dfeab
https://europepmc.org/articles/PMC8768030/
https://europepmc.org/articles/PMC8768030/
Autor:
Denice Belandres, Hüseyin Per, Noam Shomron, Ayşe Kaçar Bayram, Ahmet Okay Caglayan, Jennifer L. Silhavy, Daphna Weissglas-Volkov, Murat Gunel, Stacey Gabriel, Katsuhito Yasuno, Yaron Einhorn, Gali Heimer, Jana Schroth, Valentina Stanley, Nir Pillar, Steven M. Lewis, Bruria Ben-Zeev, Brett Copeland, Joseph G. Gleeson, Sefer Kumandaş, Jennifer McEvoy-Venneri, Yuval Porat, Anne Gregor, Rasim Ozgur Rosti, Hakan Gümüş, Naiara Akizu, Emine Z. Erson-Omay, Gozde Tugce Akgumus, Maha S. Zaki, Rebecca Fang, Alicia Guemez-Gamboa, Mahmoud Y. Issa, Kaya Bilguvar, Sahar N. Saleem, Damir Musaev
Publikováno v:
Annals of Neurology. 84:638-647
Objective To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. Methods Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dea6cdb8fcece6df153c50145528b15d
https://doi.org/10.1002/ana.25327
https://doi.org/10.1002/ana.25327
Autor:
Richard A. Young, Murat Gunel, Katsuhito Yasuno, Geneive Carrión-Grant, Burçin Baran, Victoria E. Clark, Daniel Duran, Boris Krischek, Roland Goldbrunner, Marco Timmer, Ketu Mishra-Gorur, Süleyman Coşkun, Matthias Simon, Octavian Henegariu, Hanwen Bai, Jennifer Moliterno, E. Zeynep Erson-Omay, Johannes Schramm, Brian J. Abraham, Akdes Serin Harmanci, Leon D. Kaulen, Alexander O. Vortmeyer, S. Bulent Omay, Jacob F Baranoski, Tong Ihn Lee, Kaya Bilguvar, Mark W. Youngblood
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
Nature Communications 8: Article number: 14433 (2017) Published online 14 February 2017; Updated 20 April 2018 In this Article, a subset of the H3K27ac ChIP-seq data (15 benign meningiomas and 2 dura samples (Sample IDs: MN-297, MN-288, MN-292, MN-16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ef98952dac99961283fb1862ff13e6b
https://doi.org/10.1038/ncomms16215
https://doi.org/10.1038/ncomms16215
Autor:
Kaya Bilguvar, Ekin S. Akdemir, Katsuhito Yasuno, Murat Gunel, Beyhan Tüysüz, Cemre Celen, Dilek Uludağ Alkaya, Mark W. Youngblood, Kenan Barut, Ozgur Kasapcopur, Saliha Yilmaz
Publikováno v:
Molecular Genetics & Genomic Medicine
Background The camptodactyly–arthropathy–coxa vara–pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0760da15529bab267b4a58f5824950c
https://pubmed.ncbi.nlm.nih.gov/29397575
https://pubmed.ncbi.nlm.nih.gov/29397575
Autor:
A.S. Knisely, Udeme D. Ekong, E. Zeynep Erson-Omay, Geneive Carrión-Grant, Raffaella A. Morotti, Katsuhito Yasuno, Murat Gunel, Akdes Serin Harmanci, Silvia Vilarinho, Jacob F Baranoski, Kaya Bilguvar, Sukru Emre
Publikováno v:
Journal of Hepatology. 61:1178-1183
Hepatocellular carcinoma (HCC) rarely occurs in childhood. We describe a patient with new onset of pruritus at 8 months of age who at 17 months of age was found to have a 2.5 cm HCC. To delineate the possible genetic basis of this tumour, we performe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae61de11f8fcf9f68d0d6d360cc9437e
https://doi.org/10.1016/j.jhep.2014.07.003
https://doi.org/10.1016/j.jhep.2014.07.003
Autor:
Geneive Carrión-Grant, Roland Goldbrunner, Brian J. Abraham, Akdes Serin Harmanci, Octavian Henegariu, Daniel Duran, Johanna Goldmann, Tong Ihn Lee, Matthias Simon, Katsuhito Yasuno, Hanwen Bai, Alexander O. Vortmeyer, Jacob F Baranoski, Ketu Mishra-Gorur, Joseph M. Piepmeier, Victoria E. Clark, Kaya Bilguvar, Abraham S. Weintraub, A. Gulhan Ercan-Sencicek, Boris Krischek, Mark W. Youngblood, Richard A. Young, Murat Gunel, Denes Hnisz, E. Zeynep Erson-Omay, Johannes Schramm, Jennifer Moliterno Günel
RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells, a process that is fundamental to life. Genomic mutations altering this enzyme have not previously been linked to any pathology in humans, which is a testame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba62a876c1e0f9544a483bc677f700b2
https://europepmc.org/articles/PMC5114141/
https://europepmc.org/articles/PMC5114141/