Search Results - "Caglayan, S"

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies by Masnada, Silvia, Hedrich, Ulrike B S, Gardella, Elena, Schubert, Julian, Kaiwar, Charu, Klee, Eric W, Lanpher, Brendan C, Gavrilova, Ralitza H, Synofzik, Matthis, Bast, Thomas, Gorman, Kathleen, King, Mary D, Allen, Nicholas M, Conroy, Judith, Ben Zeev, Bruria, Tzadok, Michal, Korff, Christian, Dubois, Fanny, Ramsey, Keri, Narayanan, Vinodh, Serratosa, Jose M, Giraldez, Beatriz G, Helbig, Ingo, Marsh, Eric, O'Brien, Margaret, Bergqvist, Christina A, Binelli, Adrian, Porter, Brenda, Zaeyen, Eduardo, Horovitz, Dafne D, Wolff, Markus, Marjanovic, Dragan, Caglayan, Hande S, Arslan, Mutluay, Pena, Sergio D J, Sisodiya, Sanjay M, Balestrini, Simona, Syrbe, Steffen, Veggiotti, Pierangelo, Lemke, Johannes R, Møller, Rikke S, Lerche, Holger, Rubboli, Guido

“…Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2,…”
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Cumulative Pollen Concentration Curves for Pollen Allergy Diagnosis by Hoffmann, T M, Travaglini, A, Brighetti, M A, Acar Şahin, A, Arasi, S, Bregu, B, Caeiro, E, Caglayan Sozmen, S, Charpin, D, Delgado, L, Dimou, M, Fiorilli, M, Fonseca, J A, Goksel, O, Kalpaklioglu, F, Lame, B, Mazon, A, Mesonjesi, E, Nieto, A, Öztürk, A, Pajno, G, Papadopoulos, N G, Pellegrini, E, Pereira, A M, Pereira, M, Pinar, N M, Pinter, E, Priftanji, A, Sackesen, C, Sfika, I, Suarez, J, Thibaudon, M, Tripodi, S, Ugus, U, Villella, V, Matricardi, P M, Dramburg, S

“…In the Mediterranean area, patients with seasonal allergic rhinitis are often sensitized to a wide array of grasses, trees, and weeds due to pollen types that…”
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Generation of IL1β-resistant chondrocytes using CRISPR-CAS genome editing by Karlsen, T.A, Pernas, P.F, Staerk, J, Caglayan, S, Brinchmann, J.E

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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L by Berber, Ergul, Ozbil, Mehmet, Brown, Christine, Baslar, Zafer, Caglayan, S Hande, Lillicrap, David

“…Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels…”
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Impact of glucocorticoid receptor gene (NR3C1) polymorphisms in Turkish patients with metabolic syndrome by Kaya, Z., Caglayan, S., Akkiprik, M., Aral, C., Ozisik, G., Ozata, M., Ozer, A.

“…Background The metabolic syndrome (MetS) is characterized by a cluster of metabolic factors, including insulin resistance and type-2 diabetes, abdominal…”
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy by Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R

“…Johannes Lemke, Holger Lerche and colleagues report the identification of de novo mutations in the potassium channel gene KCNA2 in patients with epileptic…”
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Sinomenine ameliorates the airway remodelling, apoptosis of airway epithelial cells, and Th2 immune response in a murine model of chronic asthma by Işık, S, Karaman, M, Micili, S Ç, Çağlayan-Sözmen, Ş, Bağrıyanık, H A, Arıkan-Ayyıldız, Z, Uzuner, N, Karaman, Ö

“…Sinomenine (SIN), an alkaloid isolated from the root of Sinomenium acutum which has a variety of pharmacological effects, including anti-inflammation,…”
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Knowledge, perspectives and attitudes about allergen-specific immunotherapy for respiratory allergic disease among paediatricians in Turkey by Işık, S, Çağlar, A, Eroğlu-Filibeli, B, Çağlayan-Sözmen, Ş, Arıkan-Ayyıldız, Z, Asilsoy, S, Uzuner, N

“…Allergen-specific immunotherapy (ASI) is the only effective treatment for allergic respiratory diseases which has the potential to change the natural course of…”
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Lafora Disease: Molecular Etiology by S. Hande ÇAĞLAYAN

“…Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies (LBs)…”
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Association of adverse childhood experiences with adult-onset cardiometabolic conditions and prescription medicine use by Caglayan, S, Gronnli, O K, Hoye, A

“…Abstract Association of adverse childhood experiences with adult-onset cardiometabolic conditions and prescription medicine use Background and importance…”
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome by Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

“…Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline…”
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Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes by Çapan, Özlem Yalçın, Yapıcı, Zuhal, Özbil, Mehmet, Çağlayan, Hande S.

“…•Nine patients harbor pathological (P) or likely pathological (LP) mutations (31%) and three patients have VUS variants (10%) out of 29 DEE patients.•De novo…”
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Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene by Çapan, Özlem Yalçın, Türkdoğan, Dilşad, Atalay, Sertaç, Çağlayan, Hande S.

“…•Exome data of DEE patient revealed compound heterozygous mutations (p.Asp257Asn and p.Arg262Cys) in the GOT2 gene.•Sanger sequencing showed that p.Asp257Asn…”
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Study of pro-inflammatory (TNF-alpha, IL-1alpha, IL-6) and T-cell-derived (IL-2, IL-4) cytokines in plasma and synovial fluid of patients with juvenile chronic arthritis: correlations with clinical and laboratory parameters by Kutukculer, N, Caglayan, S, Aydogdu, F

“…Acute phase proteins, synovial fluid (SF) cellular infiltrates, pro-inflammatory (TNF-alpha, IL-1alpha, IL-6) and Th1 (IL-2) and Th2 (IL-4) derived cytokine…”
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies by Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Mefford, Heather, de Jonghe, Peter, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J

“…FZR1, which encodes the Cdh1 subunit of the anaphase-promoting complex, plays an important role in neurodevelopment by regulating the cell cycle and by its…”
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SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS by Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yiş, Uluç, Kara, Bülent, Tektürk, Pınar, Baykan, Betül, Meral, Cihan, Türkdoğan, Dilşad, Bebek, Nerses, Çapan, Özlem Yalçın, Eken, Aslı Gündoğdu, Çağlayan, S. Hande

“…Highlights • SCN1A screening conducted in 46 Turkish patients with DS spectrum phenotypes. • Nineteen mutation was identified, 12 of which were novel. •…”
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PUBIC HAIR RECONSTRUCTION USING MINIGRAFTS AND MICROGRAFTS by Karacaoglan, N, Çaglayan, S, Çaglayan, Ü, Duman, A

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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE) by Usluer, Sunay, Kayserili, Melek Aslı, Eken, Aslı Gündoğdu, Yiş, Uluc, Leu, Costin, Altmüller, Janine, Thiele, Holger, Nuernberg, Peter, Sander, Thomas, Çağlayan, S. Hande

“…ABSTRACT Benign familial infantile epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized…”
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Four novel and two recurrent NHLRC1 ( EPM2B ) and EPM2A gene mutations leading to Lafora disease in six Turkish families by Salar, Seda, Yeni, Naz, Gündüz, Ayşegül, Güler, Ayşe, Gökçay, Ahmet, Velioğlu, Sibel, Gündoğdu, Aslı, Hande Çağlayan, S

“…Summary Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes…”
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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome by Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N

“…Summary The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood–brain barrier, were associated with…”
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