Search Results - "Akarsu, A. Nurten"

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish by 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.

“…Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix…”
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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy by Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin

“…Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly…”
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Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome by 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.

“…The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized…”
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Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome by 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

“…Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it…”
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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia by 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.

“…We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft…”
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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association by 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

“…Background Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T− B+ natural killer–positive severe…”
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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type by 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

“…Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected…”
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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis by 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

“…We have characterized a novel autosomal recessive Crouzon‐like craniosynostosis syndrome in a 12‐affected member family from Antakya, Turkey, the presenting…”
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Defining mitochondrial protein functions through deep multiomic profiling by 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.

“…Mitochondria are epicentres of eukaryotic metabolism and bioenergetics. Pioneering efforts in recent decades have established the core protein componentry of…”
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HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia by 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.

“…The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing…”
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Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity by Sarfarazi, Mansoor, Akarsu, Nurten A., Hossain, Altaf, Turacli, Erol M., Aktan, Gulderen S., Barsoum-Homsy, Magda, Chevrette, Line, Sayli, Sitki B.

“…Primary congenital glaucoma (GLC3) is an inherited eye disorder that accounts for 0.01–0.04% of total blindness. Although a large number of chromosomal…”
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One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family by 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

“…•Here, we report the largest family with a novel HTRA1 mutation.•Age of onset distinguishes heterozygotes and homozygotes of HTRA1 mutations.•Asymptomatic…”
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Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome by 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

“…Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth…”
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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 by 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

“…Werner mesomelic syndrome (WMS) is an autosomal dominant disorder with unknown molecular etiology characterized by hypo‐ or aplasia of the tibiae in addition…”
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CRIM1 haploinsufficiency causes defects in eye development in human and mouse by 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

“…Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited…”
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BIGH3 Gene Analysis in the Differential Diagnosis of Corneal Dystrophies by Kocak-Altintas, Ayse Gül, Kocak-Midillioglu, Inci, Akarsu, A Nurten, Duman, Sunay

“…PURPOSE.To identify the mutation in the keratoepithelin gene for proper diagnosis of granular corneal dystrophies. METHODS.Four generations of a single family…”
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Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia by Semerci, C Nur, Kalay, Ersan, Yıldırım, Cem, Dinçer, Tuba, Olmez, Akgün, Toraman, Bayram, Koçyiğit, Ali, Bulgu, Yunus, Okur, Volkan, Satıroğlu-Tufan, Lale, Akarsu, Nurten A

“…This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. In total, two Turkish families with a total of nine…”
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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) by Engle, Elizabeth C, Yamada, Koki, Andrews, Caroline, Chan, Wai-Man, McKeown, Craig A, Magli, Adriano, de Berardinis, Teresa, Loewenstein, Anat, Lazar, Moshe, O'Keefe, Michael, Letson, Robert, London, Arnold, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Morris, Lisa, Monte, Monte Del, Johnson, Roger H, Uyama, Eiichiro, Houtman, Willem A, de Vries, Berendina, Carlow, Thomas J, Hart, Blaine L, Krawiecki, Nicolas, Shoffner, John, Vogel, Marlene C, Katowitz, James, Goldstein, Scott M, Levin, Alex V, Sener, Emin C, Ozturk, Banu T, Akarsu, A Nurten, Brodsky, Michael C, Hanisch, Frank, Cruse, Robert P, Zubcov, Alina A, Robb, Richard M, Roggenkäemper, Peter, Gottlob, Irene, Kowal, Lionel, Battu, Ravi, Traboulsi, Elias I, Franceschini, Piergiorgio, Newlin, Anna, Demer, Joseph L

“…Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the…”
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Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens by Yee, Christina S.K., MD, PhD, Sanal, Ozden, MD, Chou, Janet S., MD, Geha, Raif S., MD, Ayvaz, Deniz, MD, Aytekin, Caner, MD, Akarsu, A. Nurten, MD, PhD

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Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3) by Yamada, Koki, Chan, Wai-Man, Andrews, Caroline, Bosley, Thomas M, Sener, Emin C, Zwaan, Johan T, Mullaney, Paul B, Ozturk, Banu T, Akarsu, A. Nurten, Sabol, Louise J, Demer, Joseph L, Sullivan, Timothy J, Gottlob, Irene, Roggenkaemper, Peter, Mackey, David A, de Uzcategui, Clara E, Uzcategui, Nicolas, Ben-Zeev, Bruria, Traboulsi, Elias I, Magli, Adriano, de Berardinis, Teresa, Gagliardi, Vincenzo, Awasthi-Patney, Sudha, Vogel, Marlene C, Rizzo, Joseph F., III, Engle, Elizabeth C

“…Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus…”
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