Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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Journal Article
Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome
Kalay, Ersan, Sezgin, Orhan, Chellappa, Vasant, Mutlu, Mehmet, Morsy, Heba, Kayserili, Hulya, Kreiger, Elmar, Cansu, Aysegul, Toraman, Bayram, Abdalla, Ebtesam Mohammed, Aslan, Yakup, Pillai, Shiv, Akarsu, Nurten A.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
Defining mitochondrial protein functions through deep multiomic profiling
Rensvold, Jarred W., Shishkova, Evgenia, Sverchkov, Yuriy, Miller, Ian J., Cetinkaya, Arda, Pyle, Angela, Manicki, Mateusz, Brademan, Dain R., Alanay, Yasemin, Raiman, Julian, Jochem, Adam, Hutchins, Paul D., Peters, Sean R., Linke, Vanessa, Overmyer, Katherine A., Salome, Austin Z., Hebert, Alexander S., Vincent, Catherine E., Kwiecien, Nicholas W., Rush, Matthew J. P., Westphall, Michael S., Craven, Mark, Akarsu, Nurten A., Taylor, Robert W., Coon, Joshua J., Pagliarini, David J.
Published in Nature (London) (09.06.2022)
Published in Nature (London) (09.06.2022)
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Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
Ozaltin, Fatih, Ibsirlioglu, Tulin, Taskiran, Ekim Z., Baydar, Dilek Ertoy, Kaymaz, Figen, Buyukcelik, Mithat, Kilic, Beltinge Demircioglu, Balat, Ayse, Iatropoulos, Paraskevas, Asan, Esin, Akarsu, Nurten A., Schaefer, Franz, Yilmaz, Engin, Bakkaloglu, Ayşin
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Journal Article
Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Journal Article
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
O'Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L.J., MacInnes, Alyson W.
Published in Blood (26.05.2022)
Published in Blood (26.05.2022)
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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
Yee, Christina S., MD, PhD, Massaad, Michel J., PhD, Bainter, Wayne, BA, Ohsumi, Toshiro K., PhD, Föger, Niko, PhD, Chan, Andrew C., MD, PhD, Akarsu, Nurten A., MD, Aytekin, Caner, MD, Ayvaz, Deniz Çagdas, MD, PhD, Tezcan, Ilhan, MD, PhD, Sanal, Özden, MD, Geha, Raif S., MD, Chou, Janet, MD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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Long-term results and comparison of flow re-direction endoluminal device and pipeline embolization device in endovascular treatment of intracranial carotid aneurysms
Gündoğmuş, Cemal A, Sabet, Soheil, Baltacıoğlu, Nurten A, Türeli, Derya, Bayri, Yaşar, Baltacıoğlu, Feyyaz
Published in Interventional neuroradiology (01.06.2022)
Published in Interventional neuroradiology (01.06.2022)
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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
Malik, Sajid, Percin, Ferda E., Bornholdt, Dorothea, Albrecht, Beate, Percesepe, Antonio, Koch, Manuela C., Landi, Antonio, Fritz, Barbara, Khan, Rizwan, Mumtaz, Sara, Akarsu, Nurten A., Grzeschik, Karl-Heinz
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family
Bekircan-Kurt, Can Ebru, Çetinkaya, Arda, Gocmen, Rahsan, Koşukcu, Can, Soylemezoglu, Figen, Arsava, Ethem Murat, Tuncer, Asli, Erdem-Ozdamar, Sevim, Akarsu, Nurten A., Topcuoglu, Mehmet Akif
Published in Journal of stroke and cerebrovascular diseases (01.09.2021)
Published in Journal of stroke and cerebrovascular diseases (01.09.2021)
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Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome
Dinçer, Tuba, Yorgancıoğlu-Budak, Gülden, Ölmez, Akgün, Er, İdris, Dodurga, Yavuz, Özdemir, Özmert Ma, Toraman, Bayram, Yıldırım, Adem, Sabir, Nuran, Akarsu, Nurten A, Semerci, C Nur, Kalay, Ersan
Published in European journal of human genetics : EJHG (01.10.2017)
Published in European journal of human genetics : EJHG (01.10.2017)
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A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
Wieczorek, Dagmar, Pawlik, Barbara, Li, Yun, Akarsu, Nurten A., Caliebe, Almuth, May, Klaus J.W., Schweiger, Bernd, Vargas, Fernando R., Balci, Sevim, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd
Published in Human mutation (01.01.2010)
Published in Human mutation (01.01.2010)
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CRIM1 haploinsufficiency causes defects in eye development in human and mouse
Beleggia, Filippo, Li, Yun, Fan, Jieqing, Elcioğlu, Nursel H, Toker, Ebru, Wieland, Thomas, Maumenee, Irene H, Akarsu, Nurten A, Meitinger, Thomas, Strom, Tim M, Lang, Richard, Wollnik, Bernd
Published in Human molecular genetics (15.04.2015)
Published in Human molecular genetics (15.04.2015)
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Antimuscarinic-induced convulsions in fasted animals after food intake produced no spontaneous seizures, behavioral changes, or neuronal damage
Enginar, N, Nurten, A, Zengin Türkmen, A, Gündoğan, G.I, Ozünal, Z.G
Published in European neuropsychopharmacology (01.10.2016)
Published in European neuropsychopharmacology (01.10.2016)
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Journal Article
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis
Keupp, Katharina, Li, Yun, Vargel, Ibrahim, Hoischen, Alexander, Richardson, Rebecca, Neveling, Kornelia, Alanay, Yasemin, Uz, Elif, Elcioğlu, Nursel, Rachwalski, Martin, Kamaci, Soner, Tunçbilek, Gökhan, Akin, Burcu, Grötzinger, Joachim, Konas, Ersoy, Mavili, Emin, Müller‐Newen, Gerhard, Collmann, Hartmut, Roscioli, Tony, Buckley, Michael F., Yigit, Gökhan, Gilissen, Christian, Kress, Wolfram, Veltman, Joris, Hammerschmidt, Matthias, Akarsu, Nurten A., Wollnik, Bernd
Published in Molecular genetics & genomic medicine (01.11.2013)
Published in Molecular genetics & genomic medicine (01.11.2013)
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Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia
Semerci, C Nur, Kalay, Ersan, Yıldırım, Cem, Dinçer, Tuba, Ölmez, Akgün, Toraman, Bayram, Koçyiğit, Ali, Bulgu, Yunus, Okur, Volkan, Şatıroğlu-Tufan, Lale, Akarsu, Nurten A
Published in British journal of ophthalmology (01.06.2014)
Published in British journal of ophthalmology (01.06.2014)
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