Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Nurten A. Akarsu"'
Autor:
Faruk Pekgül, Nesibe Gevher Eroğlu-Ertuğrul, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Arda Çetinkaya, Ersin Tan, Bahadır Konuşkan, Ergun Karaağaoğlu, Meral Topçu, Nurten Ayşe Akarsu, Kader K. Oguz, Banu Anlar, Hatice Asuman Özkara
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100688- (2020)
Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal for
Externí odkaz:
https://doaj.org/article/04adf75434bf4fb083408a4e29032740
Autor:
Arda Çetinkaya, Nurten Ayşe Akarsu
Publikováno v:
Moleküler Biyoloji ve Genetik ISBN: 9786258352481
Human reference genome, the most important outcome of the Human Genome Project, has led to revolutionary developments in many fields of human genetics including genetic diagnostics. However, human genome project was lacked in displaying inter-individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a8bd588bc4ba73eb0cc568c711e4fb2
https://doi.org/10.53478/tuba.978-625-8352-48-1.ch07
https://doi.org/10.53478/tuba.978-625-8352-48-1.ch07
Autor:
Jarred W. Rensvold, Evgenia Shishkova, Yuriy Sverchkov, Ian J. Miller, Arda Cetinkaya, Angela Pyle, Mateusz Manicki, Dain R. Brademan, Yasemin Alanay, Julian Raiman, Adam Jochem, Paul D. Hutchins, Sean R. Peters, Vanessa Linke, Katherine A. Overmyer, Austin Z. Salome, Alexander S. Hebert, Catherine E. Vincent, Nicholas W. Kwiecien, Matthew J. P. Rush, Michael S. Westphall, Mark Craven, Nurten A. Akarsu, Robert W. Taylor, Joshua J. Coon, David J. Pagliarini
Publikováno v:
Nature
Mitochondria are epicentres of eukaryotic metabolism and bioenergetics. Pioneering efforts in recent decades have established the core protein componentry of these organelles(1) and have linked their dysfunction to more than 150 distinct disorders(2,
Autor:
Marie-Françoise O’Donohue, Lydie Da Costa, Marco Lezzerini, Sule Unal, Clément Joret, Marije Bartels, Eva Brilstra, Marijn Scheijde-Vermeulen, Ludivine Wacheul, Kim De Keersmaecker, Stijn Vereecke, Veerle Labarque, Manon Saby, Sophie D. Lefevre, Jessica Platon, Nathalie Montel-Lehry, Nathalie Laugero, Eric Lacazette, Koen van Gassen, Riekelt H. Houtkooper, Pelin Ozlem Simsek-Kiper, Thierry Leblanc, Nese Yarali, Arda Cetinkaya, Nurten A. Akarsu, Pierre-Emmanuel Gleizes, Denis L. J. Lafontaine, Alyson W. MacInnes
Publikováno v:
Blood, 139(21), 3111-3126. American Society of Hematology
O'Donohue, M-F, da Costa, L, Lezzerini, M, Unal, S, Joret, C, Bartels, M, Brilstra, E, Scheijde-Vermeulen, M, Wacheul, L, de Keersmaecker, K, Vereecke, S, Labarque, V, Saby, M, Lefevre, S D, Platon, J, Montel-Lehry, N, Laugero, N, Lacazette, E, van Gassen, K, Houtkooper, R H, Simsek-Kiper, P O, Leblanc, T, Yarali, N, Cetinkaya, A, Akarsu, N A, Gleizes, P-E, Lafontaine, D L J & MacInnes, A W 2022, ' HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia ', Blood, vol. 139, no. 21, pp. 3111-3126 . https://doi.org/10.1182/blood.2021011846
O'Donohue, M-F, da Costa, L, Lezzerini, M, Unal, S, Joret, C, Bartels, M, Brilstra, E, Scheijde-Vermeulen, M, Wacheul, L, de Keersmaecker, K, Vereecke, S, Labarque, V, Saby, M, Lefevre, S D, Platon, J, Montel-Lehry, N, Laugero, N, Lacazette, E, van Gassen, K, Houtkooper, R H, Simsek-Kiper, P O, Leblanc, T, Yarali, N, Cetinkaya, A, Akarsu, N A, Gleizes, P-E, Lafontaine, D L J & MacInnes, A W 2022, ' HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia ', Blood, vol. 139, no. 21, pp. 3111-3126 . https://doi.org/10.1182/blood.2021011846
The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4100cf484e864275fa42206f6a6809
https://research.vumc.nl/en/publications/7731263a-7b25-4244-b994-0a42cb7e6400
https://research.vumc.nl/en/publications/7731263a-7b25-4244-b994-0a42cb7e6400
Autor:
Elif Dokmeci, Keith Wilson, Selket Delafontaine, Federica Barzaghi, Simone Cesaro, Jennifer A. Kanakry, Despina Moshous, Sophie Hambleton, Robbert G. M. Bredius, Dimana Dimitrova, Mervi Taskinen, Florian Babor, İkbal Ok Bozkaya, Hasan Hashem, Robert A. Krance, Michael S. Hershfield, Nurten A. Akarsu, Seza Ozen, Polina Stepensky, David Boutboul, Ghadir S. Sasa, Joel P Brooks, Sandra Steinmann, Jignesh Dalal, Isabelle Meyts, Amy P. Hsu, Caroline Schnider, Dennis D. Hickstein, Yener Koc, Guillaume Le Guenno, Minna Koskenvuo, Chip Chambers, Tayfun Güngör, Maria Pia Cicalese, Fabio Candotti, Valentina Baretta, Steven M. Holland, Ingo Müller, Jasmeen Dara, Neven Benedicte, Giorgia Bucciol, Amanda K. Ombrello, Janna Saarela, Stephen Jolles, Ashish R Kumar, Sule Unal, Carrie L. Lucas, Leen Moens, Joris M. van Montfrans, Monica Abreu de Sousa, Ansgar Schulz
Publikováno v:
Journal of Clinical Immunology, 41(7), 1633-1647. SPRINGER/PLENUM PUBLISHERS
Journal of clinical immunology, vol. 41, no. 7, pp. 1633-1647
Journal of Clinical Immunology
Journal of clinical immunology, vol. 41, no. 7, pp. 1633-1647
Journal of Clinical Immunology
Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ace541f0425652c858e94ad95ce9362
https://link.springer.com/content/pdf/10.1007/s10875-021-01098-0.pdf
https://link.springer.com/content/pdf/10.1007/s10875-021-01098-0.pdf
Autor:
Evren Akpınar, Ali Seker, Dilek Uludağ Alkaya, Leyla Elkanova, Nurten A. Akarsu, Aylin Yüksel Ülker, Zehra Oya Uyguner, Beyhan Tüysüz
Publikováno v:
Calcified tissue international. 109(6)
Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare disorders caused by biallelic variants in the FKBP10, characterized by early-onset bone fractures and progressive skeletal deformities. The patients with OI-XI, also
Autor:
Can Ebru Bekircan-Kurt, Faruk Pekgül, Sevim Erdem-Ozdamar, Nurten A. Akarsu, Ersin Tan, Hatice Asuman Özkara, Bahadır Konuşkan, Meral Topçu, Arda Cetinkaya, Nesibe Gevher Eroglu‐Ertugrul, Banu Anlar, Kader Karli Oguz, Ergun Karaagaoglu
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100688-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100688-(2020)
Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal for
Autor:
Mary Claire King, Nurten A. Akarsu, Fatma Gumruk, Tom Walsh, Silvia Casadei, Akiko Shimamura, Sule Unal, Hannah Tamary, Stavit A. Shalev, Orna Steinberg-Shemer, Aaron Seo
Publikováno v:
Proceedings of the National Academy of Sciences. 115:5241-5246
BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous for BRCA1 truncating mut
Autor:
Figen Soylemezoglu, Arda Cetinkaya, Rahsan Gocmen, Mehmet Akif Topcuoglu, Sevim Erdem-Ozdamar, Can Koşukcu, Can Ebru Bekircan-Kurt, Aslı Tuncer, Ethem Murat Arsava, Nurten A. Akarsu
Publikováno v:
Journal of Stroke and Cerebrovascular Diseases. 30:105997
Objectives To identify the underlying genetic defect for a consanguineous family with an unusually high number of members affected by cerebral small vessel disease. Materials and methods A total of 6 individuals, of whom 3 are severely affected, from
Autor:
Fatma Gumruk, Guoliang Chai, Bertrand Boisson, Natalia Ordonez, Ricardo Moreno Traspas, Maha S. Zaki, Stephanie Efthymiou, Dana Hasbini, Sze Hwee Seet, Thanh Thao Nguyen Ly, Jean-Laurent Casanova, Tadahiro Mitani, Michael Maier, Danielle Sng, Pelin Ozlem Simsek-Kiper, Davut Pehlivan, Hülya Kayserili, James R. Lupski, Nese Yarali, Kornelia Tripolszki, Abigail Loh, Hui Hui Wong, Robert J. Isfort, Joshua J. Coon, Sedat Işıkay, Frederic Bard, Ece Cepni, Evgenia Shishkova, Charles C. Bascom, Chao Liang, Afaf Alsubhi, Bruno Reversade, Nurten A. Akarsu, Tze Shin Teoh, Jarred W. Rensvold, Nima Rezaei, Soh Sok Keng, David J. Pagliarini, Serdar Ceylaner, Naser Gilani, Lena Ho, Fatima Megala Nathan, Siew Chin Choo, Hamdi Mbarek, Crystal Y. Chia, Wafaa Eyaid, Ozlem Arman-Bilir, Reza Maroofian, Simin Seyedpour, Kortessa Sotiropoulou, Joseph G. Gleeson, Peter Bauer, Arda Cetinkaya, Beril Talim, Fernanda L. Sirota, Sule Unal, Ghamar Taj Khotaei, Sebastian Maurer-Stroh, Franziska Paul, Shan Zhang, Elanur Yılmaz, Ayse Gurel, Shifeng Xue, Henry Houlden, Ajay S. Mathuru, Myriam Chaabouni, Aida M. Bertoli-Avella, Candice Lainé, Cheryl Yi-Pin Lee, Danai Georgiadou, Nur Ain Ali, Deniz Uğurlu Çi̇men
Publikováno v:
American journal of human genetics, 108(7), 1301-1317. Cell Press
Am J Hum Genet
Am J Hum Genet
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy wit