Zobrazeno 1 - 10
of 372
pro vyhledávání: '"Hülya Kayserili"'
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)
Abstract The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD‐associate
Externí odkaz:
https://doaj.org/article/00a4d41179d0455f867ed390b4be7d8b
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Erman Aytaç, Leyla Özer, Bilgi Baca, Emre Balık, Yersu Kapran, Orhun Cığ Taşkın, Başak Oyan Uluç, Mehmet Ufuk Abacıoğlu, Murat Gönenç, Yasemin Bölükbaşı, Barbaros E. Çil, Bülent Baran, Cem Aygün, Mehmet Erdem Yıldız, Kemal Ünal, Burçak Erkol, Tunç Yaltı, Uğur Özbek, Tan Attila, Nurdan Tözün, Bengi Gürses, Sibel Erdamar, Özlem Er, Nuran Beşe, Orhan Bilge, Güralp Onur Ceyhan, Nil Molinas Mandel, Uğur Selek, Cengiz Yakıcıer, Hülya Kayserili Karabey, Murat Saruç, Volkan Özben, Eren Esen, Emre Özoran, Erkan Vardareli, Levent Güner, İsmail Hamzaoğlu, Dursun Buğra, Tayfun Karahasanoğlu, The İstanbul Group
Publikováno v:
The Turkish Journal of Gastroenterology, Vol 33, Iss 8, Pp 627-663 (2022)
Externí odkaz:
https://doaj.org/article/3a4dc67bbb9c4476af188695c8366dbe
Autor:
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first human phenot
Externí odkaz:
https://doaj.org/article/12fc7fb5e634482b982be6cd3b0c8a2c
Autor:
Yulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Konstantinos Sofiadis, Anne Zirkel, Spiros Palikyras, Athanasia Mizi, Yun Li, Gökhan Yigit, Alexander Hoischen, Stefan Frank, Nicole Russ, Jonathan Trautwein, Bregje van Bon, Christian Gilissen, Magdalena Laugsch, Eduardo Gade Gusmao, Natasa Josipovic, Janine Altmüller, Peter Nürnberg, Gernot Längst, Frank J. Kaiser, Erwan Watrin, Han Brunner, Alvaro Rada-Iglesias, Leo Kurian, Bernd Wollnik, Karim Bouazoune, Argyris Papantonis
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Members of the CHD chromatin remodeler family are implicated in human pathologies, however CHD6 remained poorly studied. Here, the authors show that CHD6 binds to and regulates autophagy and stress response genes across cell types. They identify a cl
Externí odkaz:
https://doaj.org/article/3a21a85edc97413aa5f192b307a93267
Autor:
Geetika Sahni, Shu‐Yung Chang, Jeremy Choon Meng Teo, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi‐Chin Toh
Publikováno v:
Advanced Science, Vol 8, Iss 13, Pp n/a-n/a (2021)
Externí odkaz:
https://doaj.org/article/124cb9bd77d24377b9cd9c1a0ea5bb3c
Autor:
Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Seher Basaran
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra
Externí odkaz:
https://doaj.org/article/2b6a336a27d44a7bbd162771492870e6
Autor:
Kortessa Sotiropoulou, Saniye Yumlu, Tomoko Hirano, Michael Maier, Abigail Loh, Peh Fern Ong, Onn Siong Yim, Chunping Liu, Emmanuel Vial, Umut Altunoğlu, Sheela Nampoothiri, Deepthi de Silva, Björn Fischer-Zirnsak, Hülya Kayserili, Poh San Lai, Oliver Dreesen, Kenji Kabashima, Uwe Kornak, Nathalie Escande-Beillard, Bruno Reversade
De Barsy syndrome is a recessive progeroid disease classified under the group of cutis laxa syndromes. The disease is attributed to loss-of-function mutations inPYCR1orALDH18A1, leading to premature skin aging. Here we report fivePYCR1pathogenic alle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::956ce1738a7036d6b9f3b9ce9250b07e
https://doi.org/10.1101/2023.05.24.23289766
https://doi.org/10.1101/2023.05.24.23289766
Autor:
Corey J. Cain, Nathalie Gaborit, Wint Lwin, Emilie Barruet, Samantha Ho, Carine Bonnard, Hanan Hamamy, Mohammad Shboul, Bruno Reversade, Hülya Kayserili, Benoit G. Bruneau, Edward C. Hsiao
Publikováno v:
Bone Reports, Vol 5, Iss , Pp 86-95 (2016)
Cranial malformations are a significant cause of perinatal morbidity and mortality. Iroquois homeobox transcription factors (IRX) are expressed early in bone tissue formation and facilitate patterning and mineralization of the skeleton. Mice lacking
Externí odkaz:
https://doaj.org/article/f701f83d752c4042a4cdc649ca5146b4