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1. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Author

Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, and Nagata, Koh Ichi

Subjects
Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G > C p.G12R, c.179G > A p.G60D, c.186_188delGGA p.E62del, c.187G > A p.D63N, c.191A > G p.Y64C and c.348G > C p.K116N. We then examined the pathophysiological significance of these novel and previously reported pathogenic variants p.P29L, p.P34R, p.A59G, p.Q61L and p.E62K. In vitro analyses revealed that all tested RAC3 variants were biochemically and biologically active to variable extent, and exhibited a spectrum of different affinities to downstream effectors including p21-activated kinase 1. We then focused on the four variants p.Q61L, p.E62del, p.D63N and p.Y64C in the Switch II region, which is essential for the biochemical activity of small GTPases and also a variation hot spot common to other Rho family genes, RAC1 and CDC42. Acute expression of the four variants in embryonic mouse brain using in utero electroporation caused defects in cortical neuron morphology and migration ending up with cluster formation during corticogenesis. Notably, defective migration by p.E62del, p.D63N and p.Y64C were rescued by a dominant negative version of p21-activated kinase 1. Our results indicate that RAC3 variants result in morphological and functional defects in cortical neurons during brain development through variant-specific mechanisms, eventually leading to heterogeneous neurodevelopmental phenotypes.

Published
2022

2. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Author

Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, and Mazzeu, Juliana F

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.

Published
2022

3. The impact of the Turkish population variome on the genomic architecture of rare disease traits

Author

Coban-Akdemir, Zeynep, Song, Xiaofei, Ceballos, Francisco C., Pehlivan, Davut, Karaca, Ender, Bayram, Yavuz, Mitani, Tadahiro, Gambin, Tomasz, Bozkurt-Yozgatli, Tugce, Jhangiani, Shalini N., Muzny, Donna M., Lewis, Richard A., Liu, Pengfei, Boerwinkle, Eric, Hamosh, Ada, Gibbs, Richard A., Sutton, V. Reid, Sobreira, Nara, Carvalho, Claudia M.B., Shaw, Chad A., Posey, Jennifer E., Valle, David, and Lupski, James R.

Published
2024
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4. Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield

Author

Yamamoto, Nobuko, Balciuniene, Jorune, Hartman, Tiffiney, Diaz-Miranda, Maria Alejandra, Bedoukian, Emma, Devkota, Batsal, Lawrence, Audrey, Golenberg, Netta, Patel, Maha, Tare, Archana, Chen, Robert, Schindler, Emma, Choi, Jiwon, Kaur, Maninder, Charles, Sarah, Chen, Jiani, Fanning, Elizabeth A., Dechene, Elizabeth, Cao, Kajia, Jill, Murrell R., Rajagopalan, Ramakrishnan, Bayram, Yavuz, Dulik, Matthew C., Germiller, John, Conlin, Laura K., Krantz, Ian D., and Luo, Minjie

Published
2023
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5. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

Author

Coban-Akdemir, Zeynep, primary, Song, Xiaofei, additional, Ceballos, Francisco C., additional, Pehlivan, Davut, additional, Karaca, Ender, additional, Bayram, Yavuz, additional, Mitani, Tadahiro, additional, Gambin, Tomasz, additional, Yozgatli, Tugce Bozkurt, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Boerwinkle, Eric, additional, Hamosh, Ada, additional, Gibbs, Richard A., additional, Sutton, V. Reid, additional, Sobreira, Nara, additional, Carvalho, Claudia M.B., additional, Shaw, Chad A., additional, Posey, Jennifer E., additional, Valle, David, additional, and Lupski, James R., additional

Published
2024
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6. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Author

Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., and Pehlivan, Davut

Published
2021
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7. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Author

Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy
Abstract

BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Published
2017

8. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Author

White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Genomics, Baylor-Hopkins Center for Mendelian, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, and Carvalho, Claudia MB

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adaptor Proteins, Signal Transducing, Alleles, Base Sequence, Codon, Nonsense, Craniofacial Abnormalities, Dishevelled Proteins, Dwarfism, Exons, Female, Frameshift Mutation, Genetic Variation, Humans, Limb Deformities, Congenital, Male, Molecular Sequence Data, Phosphoproteins, Proto-Oncogene Proteins, Receptor Tyrosine Kinase-like Orphan Receptors, Sequence Analysis, DNA, Sequence Deletion, Urogenital Abnormalities, Wnt Proteins, Wnt-5a Protein, Baylor-Hopkins Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.

Published
2016

9. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

Author

White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Baylor-Hopkins Center for Mendelian Genomics, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, and Carvalho, Claudia MB

Subjects
Baylor-Hopkins Center for Mendelian Genomics, Humans, Dwarfism, Craniofacial Abnormalities, Limb Deformities, Congenital, Urogenital Abnormalities, Adaptor Proteins, Signal Transducing, Proto-Oncogene Proteins, Phosphoproteins, Codon, Nonsense, Sequence Analysis, DNA, Sequence Deletion, Base Sequence, Frameshift Mutation, Alleles, Exons, Molecular Sequence Data, Female, Male, Wnt Proteins, Genetic Variation, Receptor Tyrosine Kinase-like Orphan Receptors, Wnt-5a Protein, Dishevelled Proteins, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.

Published
2016

13. Arûz Tasarrufları Bağlamında Muhibbî'nin Gül Redifli Gazelleri.

Author

Bayram, Yavuz

Abstract

Copyright of Turkish Studies - Language & Literature is the property of Electronic Turkish Studies and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023
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14. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Author

Saida, Ken, primary, Maroofian, Reza, additional, Sengoku, Toru, additional, Mitani, Tadahiro, additional, Pagnamenta, Alistair T., additional, Marafi, Dana, additional, Zaki, Maha S., additional, O’Brien, Thomas J., additional, Karimiani, Ehsan Ghayoor, additional, Kaiyrzhanov, Rauan, additional, Takizawa, Marina, additional, Ohori, Sachiko, additional, Leong, Huey Yin, additional, Akay, Gulsen, additional, Galehdari, Hamid, additional, Zamani, Mina, additional, Romy, Ratna, additional, Carroll, Christopher J., additional, Toosi, Mehran Beiraghi, additional, Ashrafzadeh, Farah, additional, Imannezhad, Shima, additional, Malek, Hadis, additional, Ahangari, Najmeh, additional, Tomoum, Hoda, additional, Gowda, Vykuntaraju K., additional, Srinivasan, Varunvenkat M., additional, Murphy, David, additional, Dominik, Natalia, additional, Elbendary, Hasnaa M., additional, Rafat, Karima, additional, Yilmaz, Sanem, additional, Kanmaz, Seda, additional, Serin, Mine, additional, Krishnakumar, Deepa, additional, Gardham, Alice, additional, Maw, Anna, additional, Rao, Tekki Sreenivasa, additional, Alsubhi, Sarah, additional, Srour, Myriam, additional, Buhas, Daniela, additional, Jewett, Tamison, additional, Goldberg, Rachel E., additional, Shamseldin, Hanan, additional, Frengen, Eirik, additional, Misceo, Doriana, additional, Strømme, Petter, additional, Magliocco Ceroni, José Ricardo, additional, Kim, Chong Ae, additional, Yesil, Gozde, additional, Sengenc, Esma, additional, Guler, Serhat, additional, Hull, Mariam, additional, Parnes, Mered, additional, Aktas, Dilek, additional, Anlar, Banu, additional, Bayram, Yavuz, additional, Pehlivan, Davut, additional, Posey, Jennifer E., additional, Alavi, Shahryar, additional, Madani Manshadi, Seyed Ali, additional, Alzaidan, Hamad, additional, Al-Owain, Mohammad, additional, Alabdi, Lama, additional, Abdulwahab, Ferdous, additional, Sekiguchi, Futoshi, additional, Hamanaka, Kohei, additional, Fujita, Atsushi, additional, Uchiyama, Yuri, additional, Mizuguchi, Takeshi, additional, Miyatake, Satoko, additional, Miyake, Noriko, additional, Elshafie, Reem M., additional, Salayev, Kamran, additional, Guliyeva, Ulviyya, additional, Alkuraya, Fowzan S., additional, Gleeson, Joseph G., additional, Monaghan, Kristin G., additional, Langley, Katherine G., additional, Yang, Hui, additional, Motavaf, Mahsa, additional, Safari, Saeid, additional, Alipour, Mozhgan, additional, Ogata, Kazuhiro, additional, Brown, André E.X., additional, Lupski, James R., additional, Houlden, Henry, additional, and Matsumoto, Naomichi, additional

Published
2023
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15. TÜRKÇEDE İLK ÇEVİRİ ELEŞTİRİSİ: KISSA-İ ANTER MUKADDİMESİ.

Author

GÜLER, Muhammed İkbâl and BAYRAM, Yavuz

Subjects
*FOLK literature, *INFLUENCE (Literary, artistic, etc.), *ORAL tradition, *LANGUAGE & languages, *TRANSLATORS, *TRANSLATING & interpreting, *ARABIC literature
Abstract

The story of Sîrat Antar, created around the life of Antar ibn Shaddad, who is known as the poet of al-Mu‘allaqât and who is also famous for his heroism, had been circulating from language to language for centuries in different geographies. This story, which found existence in the tradition of oral literature in Arab geography in the 6th century, when Anter bin Şeddâd lived, was put into writing in the 12th century, and the whole story was translated into Turkish for the first time in 1477 by the order of Sultan Mehmed the Conqueror. The preface of the translation of Qıssa-i Antar, whose translator is unknown, has the distinction of being the first translation criticism in Turkish in the light of the available information. According to the information the translator gave in the preface, as mentioned earlier, the story was translated into Turkish before it. However, it has been determined that these translations have deficiencies in many issues listed under different headings. The preface, as mentioned earlier, is the subject of this study. First of all, in the study, the translated text and intralingual translation of the preface of the first volume of Qıssa-i Antar registered with the location number H. 1145 in the Topkapı Palace Museum Library, are given. After the section in which the translation process described in the foreword is explained in articles, the Arabic and Turkish sources that the translator has benefited from and criticized have been reached. Based on the traces in the detected copies, the factual data of the translator’s criticisms of the previous translation were extracted, and the relevant data were interpreted. In the resulting table, it was concluded that there might be more than one translator whose name is unknown in the translation of Qıssa-i Antar, and the translator's identity and the text’s period were evaluated. In the last part, the numerical data of the copies examined by the translator and the translation produced during the translation process were transferred, and it was questioned why the translation was called “Kitâb-ı Fâhir” (the book to be proud of). [ABSTRACT FROM AUTHOR]

Published
2023

18. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Author

Duan, Ruizhi, primary, Hijazi, Hadia, additional, Gulec, Elif Yilmaz, additional, Eker, Hatice Koçak, additional, Costa, Silvia R., additional, Sahin, Yavuz, additional, Ocak, Zeynep, additional, Isikay, Sedat, additional, Ozalp, Ozge, additional, Bozdogan, Sevcan, additional, Aslan, Huseyin, additional, Elcioglu, Nursel, additional, Bertola, Débora R., additional, Gezdirici, Alper, additional, Du, Haowei, additional, Fatih, Jawid M., additional, Grochowski, Christopher M., additional, Akay, Gulsen, additional, Jhangiani, Shalini N., additional, Karaca, Ender, additional, Gu, Shen, additional, Coban-Akdemir, Zeynep, additional, Posey, Jennifer E., additional, Bayram, Yavuz, additional, Sutton, V. Reid, additional, Carvalho, Claudia M.B., additional, Pehlivan, Davut, additional, Gibbs, Richard A., additional, and Lupski, James R., additional

Published
2022
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19. ARUZ TASARRUFLARI BAĞLAMINDA ÜÇ GÜL KASİDESİ (NECÂTÎ, HAYÂLÎ, NEV'Î)

Author

BAYRAM, Yavuz

Subjects
Literature, Edebiyat, arûz, gül kasideleri, Necâtî, Hayâlî, Nev‘î, Fuzûlî
Abstract

Aruz, klasik Türk şiirinin ve bu şiirle ilgili çalışmaların vazgeçilmez bir parçasıdır. Zira aruz, manzum bir metnin en doğru şekilde tespit edilmesi noktasında ihmâl edilmez katkılar sağlar. Bu yönüyle aruz, araştırmacı için bir tür navigasyon işlevi görür, metnin okunması sürecinde araştırmacıya kılavuzluk eder.Nitekim manzum metin eksenli hemen her çalışmada bir şekilde arûza ve arûzla ilgili değerlendirmelere yer verilir. Arûz, özellikle Arap asıllı Türk alfabesiyle yazılmış metinlerin Latin asıllı Türk alfabesine aktarımıyla ilgili çalışmalarda önemlidir. Yeni harflerle yayımlanmış dîvânlar, mesneviler ve diğer manzûm metinler üzerinde müstakilen arûz eksenli çalışmalar da yapılmaktadır. Bunların sayısı son zamanlarda gittikçe artmaktadır. Bununla birlikte söz konusu çalışmalarda uygulamaya dönük somut örneklere ve sayısal verilere dayalı istatistiksel değerlendirmelere yeterince yer verildiğini söylemek mümkün değildir. Araştırmacılar, arûzla ilgili uygulamaları müstakilen yapar; ancak yayınlarda bu süreçteki uygulamalar yerine sürecin nihayetinde elde ettikleri sonuçları paylaşırlar. Bu sonuçlar da daha çok genel değerlendirmeler ve bunlara ilişkin seçilmiş örneklerden oluşur. Dolayısıyla aruzla ilgili uygulamaya dönük ayrıntılar ve istatistiksel veriler, bütünüyle ortaya çıkmamış olur. Bu düşüncelerle makalede arûzla ilgili uygulamaların tamamı en küçük ayrıntısına kadar gösterilmiş ve ilgili bütün istatistiksel veriler paylaşılmıştır. Arûz uygulamalarının gösterilmesinde standardize işaretlemelerden yararlanılmış, istatistiksel verilerle ilgili grafikler ve tablolar oluşturularak bunlara dayalı yorum ve değerlendirmeler yapılmıştır.Makalede gül redifli üç kasidede yer alan toplam 93 beyitteki arûz tasarrufları ayrıntılı bir şekilde incelenmiş, ilgili uygulamalar mısra mısra gösterilmiş ve istatistiksel veriler karşılaştırmalı olarak değerlendirilmiştir. Makale kapsamında incelenen kasidelerin tamamı 16.yüzyılda vefat etmiş olan üstâd şairlerden seçilmiştir. Bu şairler, 16.yüzyılın başlarında vefat etmiş olan Necâtî, ortalarında vefat etmiş olan Hayâlî ve sonunda vefat etmiş olan Nev‘î’dir. Ayrıca karşılaştırma aşamasında yine bu yüzyılın ortalarında vefat etmiş olan Fuzûlî’nin 62 beyitlik gül redifli kasidesiyle ilgili istatistikler de değerlendirilmiştir.

Published
2022

20. An attempt at analysis of Political Leadership Styles in Foreign Political Events: The Case of Vladimir Putin-Volodimir Zelensky

Author

BAYRAM, Yavuz

Subjects
Communication, Leader, Leadership Styles, Foreign Policy, Newspapers, Qualitative Content Analysis, İletişim, Lider, Liderlik Stilleri, Dış Politika, Gazeteler, Nitel İçerik Analizi
Abstract

Lider, insanların bir arada yaşadığı siyasal, toplumsal yapılarda ortaya çıkar. Liderlik vasfının nasıl kazanıldığı sorusu bilim dünyasının uzun zamandır tartıştığı bir konudur. Doğuştan gelen kimi yetenekler liderlik için önemli bir şarttır fakat şartların olağanüstülüğü çerçevesinde sıradan insanlar lider özellikleri sergileyebilirler. Lider, insanların topluluk hâlinde yaşadığı yerlerde kendi grubunun diğer bireylerine yol gösteren, yöneticilik yapan ve sorunlarına çözüm üreten kişidir. Lider, yerel bir kanaat önderi olabileceği gibi, bir işletmede çalışanlara yöneticilik yapan kişi ya da bir siyasal organizasyonun tepesindeki isim de olabilir. Bu noktadan bakıldığında lider, çeşitli toplumsal, siyasal, ekonomik ve sınıfsal yapılanmaların ihtiyaç duyduğunda ya da kendiliğinden ortaya çıkan bir kavramdır. Lider, liderlik kavramları siyaset, işletme, hukuk, sosyoloji gibi çok farklı bilimsel disiplinlerce araştırma konusu yapılmıştır. Yapılan çalışma ise bu iki kavrama iletişim disiplini açısından bakma girişimidir. Bu amaçla Rusya - Ukrayna savaşında çatışan tarafların liderleri olan Vladimir Putin ile Volodimir Zelenski’nin Türkiye’de yayınlanan ana akım yazılı basında liderlik stillerinin nasıl temsil edildiği nitel içerik analizi yöntemi kullanılarak analiz edilmiştir. Çalışma 23 Şubat-2 Mart 2022 tarihleri arasında yayınlanan gazetelerle sınırlandırılmıştır. Çalışma sonucunda Türkiye’deki yaygın yazılı basında Rus lider Putin’in otoriter, savaş yanlısı, şahin ve karizmatik bir lider olarak, Ukrayna lideri Zelenski’nin ise karizmatik, barış yanlısı, demokrat ve idealist bir lider olarak haberleştirilip yansıtıldığı sonuçlarına ulaşılmıştır., A leader is an individual or animal species that emerges spontaneously in environments where living beings live together and is sometimes desired to emerge. From a human perspective, the question of how to gain the quality of a leader is a topic that the scientific world has been discussing for a long time. Some innate talents are an important condition for leadership, but in the extreme of circumstances, ordinary people can display leadership traits. A leader is a person who guides the other members of his group in places where people live in groups, acts as a manager and produces solutions to their problems. The leader can be a local opinion leader, a person who manages the employees in a business or the name at the top of a political organization. From this point of view, the leader is a concept that is needed by various social, political, economic and class structures or emerges spontaneously. Leader and leadership concepts have been researched by many different scientific disciplines such as politics, business, law and sociology. The study is an attempt to evaluate these two concepts in terms of communication discipline. For this purpose, the leadership styles of Vladimir Putin and Volodymyr Zelenski, the leaders of the conflicting parties in the Russia-Ukraine war, were analyzed using qualitative methods. For this purpose, the leadership styles of Vladimir Putin and Volodymyr Zelenski, the leaders of the conflicting parties in the Russia-Ukraine war, were analyzed using qualitative methods in the mainstream print media published in Turkey. As a result of the study, it was concluded that the Russian leader Putin was reported and reflected as an authoritarian, pro-war, hawk and charismatic leader, and the Ukrainian leader Zelensky as a charismatic, peace-loving, legitimate and idealistic leader in the widespread print media in Turkey.

Published
2022

21. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

Author

Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M., Cho, Megan T., Krokosky, Alyson, Turner, Clesson E., Lindstrom, Kristin, Bupp, Caleb P., Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A., Lewis, Andrea M., White, Janson J., Jhangiani, Shalani N., Gulec, Elif Yilmaz, Lalani, Seema R., Lupski, James R., Retterer, Kyle, Schnur, Rhonda E., Wentzensen, Ingrid M., Bale, Sherri, and Chung, Wendy K.

Published
2016
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22. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Author

Bayram, Yavuz, Karaca, Ender, Akdemir, Zeynep Coban, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M., Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W., Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna M., Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A., Boerwinkle, Eric, Gibbs, Richard A., Elcioglu, Nursel, Tuysuz, Beyhan, and Lupski, James R.

Subjects
Arthrogryposis -- Genetic aspects -- Development and progression, Gene expression -- Health aspects, Exome sequencing -- Methods, Genotype -- Identification and classification, Health care industry
Abstract

BACKGROUND. Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases. METHODS. We performed whole exome sequencing (WES) of 52 patients with clinical presentation of arthrogryposis from 48 different families. RESULTS. Affected individuals from 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous variants of cholinergic y nicotinic receptor (CHRNG, 6 subjects) and endothelin converting enzyme-like 1 (ECEL1, 4 subjects). Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBNS], myosin IXA [MYO9A], and pleckstrin and Sec7 domain containing 3 [PSDS]) were identified in 3 families (6.2%). Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second locus with either a homozygous or compound heterozygous variant in a candidate gene (myosin binding protein C, fast type [MYBPC2] and vacuolar protein sorting 8 [UPSS], 2 families, 4.2%) or in another disease-associated genes (6 families, 12.5%), indicating a potential mutational burden contributing to disease expression. CONCLUSION. In 58.3% of families, the arthrogryposis manifestation could be explained by a molecular diagnosis; however, the molecular etiology in subjects from 20 families remained unsolved by WES. Only 5 of these 20 unrelated subjects had a clinical presentation consistent with amyoplasia; a phenotype not thought to be of genetic origin. Our results indicate that increased use of genome-wide technologies will provide opportunities to better understand genetic models for diseases and molecular mechanisms of genetically heterogeneous disorders, such as arthrogryposis. FUNDING. This work was supported in part by US National Human Genome Research Institute (NHGRI)/National Heart, Lung, and Blood Institute (NHLBI) grant U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics, and US National Institute of Neurological Disorders and Stroke (NINDS) grant R01NS058529 to J.R. Lupski., Introduction Arthrogryposis, also known as arthrogryposis multiplex congenita, is clinically defined as congenital joint contractures or movement restriction in multiple body areas. It should be distinguished from isolated congenital contractures [...]

Published
2016
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23. Back Cover, Volume 43, Issue 7

Author

Lima, Ariadne R., primary, Ferreira, Barbara M., additional, Zhang, Chaofan, additional, Jolly, Angad, additional, Du, Haowei, additional, White, Janson J., additional, Dawood, Moez, additional, Lins, Tulio C., additional, Chiabai, Marcela A., additional, van Beusekom, Ellen, additional, Cordoba, Mara S., additional, Caldas Rosa, Erica C.C., additional, Kayserili, Hulya, additional, Kimonis, Virginia, additional, Wu, Erica, additional, Mellado, Cecilia, additional, Aggarwal, Vineet, additional, Richieri‐Costa, Antonio, additional, Brunoni, Décio, additional, Canó, Talyta M., additional, Jorge, Alexander A. L., additional, Kim, Chong A., additional, Honjo, Rachel, additional, Bertola, Débora R., additional, Dandalo‐Girardi, Raissa M., additional, Bayram, Yavuz, additional, Gezdirici, Alper, additional, Yilmaz‐Gulec, Elif, additional, Gumus, Evren, additional, Yilmaz, Gülay C., additional, Okamoto, Nobuhiko, additional, Ohashi, Hirofumi, additional, Coban–Akdemir, Zeynep, additional, Mitani, Tadahiro, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Regattieri, Neysa A.P., additional, Pogue, Robert, additional, Pereira, Rinaldo W., additional, Otto, Paulo A., additional, Gibbs, Richard A., additional, Ali, Bassam R., additional, van Bokhoven, Hans, additional, Brunner, Han G., additional, Sutton, V. Reid, additional, Lupski, James R., additional, Vianna‐Morgante, Angela M., additional, Carvalho, Claudia M. B., additional, and Mazzeu, Juliana F., additional

Published
2022
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24. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author

Baxter, Samantha M., primary, Posey, Jennifer E., additional, Lake, Nicole J., additional, Sobreira, Nara, additional, Chong, Jessica X., additional, Buyske, Steven, additional, Blue, Elizabeth E., additional, Chadwick, Lisa H., additional, Coban-Akdemir, Zeynep H., additional, Doheny, Kimberly F., additional, Davis, Colleen P., additional, Lek, Monkol, additional, Wellington, Christopher, additional, Jhangiani, Shalini N., additional, Gerstein, Mark, additional, Gibbs, Richard A., additional, Lifton, Richard P., additional, MacArthur, Daniel G., additional, Matise, Tara C., additional, Lupski, James R., additional, Valle, David, additional, Bamshad, Michael J., additional, Hamosh, Ada, additional, Mane, Shrikant, additional, Nickerson, Deborah A., additional, Rehm, Heidi L., additional, O’Donnell-Luria, Anne, additional, Adams, Marcia, additional, Aguet, François, additional, Akay, Gulsen, additional, Anderson, Peter, additional, Antonescu, Corina, additional, Arachchi, Harindra M., additional, Atik, Mehmed M., additional, Austin-Tse, Christina A., additional, Babb, Larry, additional, Bacus, Tamara J., additional, Bahrambeigi, Vahid, additional, Balasubramanian, Suganthi, additional, Bayram, Yavuz, additional, Beaudet, Arthur L., additional, Beck, Christine R., additional, Belmont, John W., additional, Below, Jennifer E., additional, Bilguvar, Kaya, additional, Boehm, Corinne D., additional, Boerwinkle, Eric, additional, Boone, Philip M., additional, Bowne, Sara J., additional, Brand, Harrison, additional, Buckingham, Kati J., additional, Byrne, Alicia B., additional, Calame, Daniel, additional, Campbell, Ian M., additional, Cao, Xiaolong, additional, Carvalho, Claudia, additional, Chander, Varuna, additional, Chang, Jaime, additional, Chao, Katherine R., additional, Chinn, Ivan K., additional, Clarke, Declan, additional, Collins, Ryan L., additional, Cummings, Beryl, additional, Dardas, Zain, additional, Dawood, Moez, additional, Delano, Kayla, additional, DiTroia, Stephanie P., additional, Doddapaneni, Harshavardhan, additional, Du, Haowei, additional, Du, Renqian, additional, Duan, Ruizhi, additional, Eldomery, Mohammad, additional, Eng, Christine M., additional, England, Eleina, additional, Evangelista, Emily, additional, Everett, Selin, additional, Fatih, Jawid, additional, Felsenfeld, Adam, additional, Francioli, Laurent C., additional, Frazar, Christian D., additional, Fu, Jack, additional, Gamarra, Emmanuel, additional, Gambin, Tomasz, additional, Gan, Weiniu, additional, Gandhi, Mira, additional, Ganesh, Vijay S., additional, Garimella, Kiran V., additional, Gauthier, Laura D., additional, Giroux, Danielle, additional, Gonzaga-Jauregui, Claudia, additional, Goodrich, Julia K., additional, Gordon, William W., additional, Griffith, Sean, additional, Grochowski, Christopher M., additional, Gu, Shen, additional, Gudmundsson, Sanna, additional, Hall, Stacey J., additional, Hansen, Adam, additional, Harel, Tamar, additional, Harmanci, Arif O., additional, Herman, Isabella, additional, Hetrick, Kurt, additional, Hijazi, Hadia, additional, Horike-Pyne, Martha, additional, Hsu, Elvin, additional, Hu, Jianhong, additional, Huang, Yongqing, additional, Hurless, Jameson R., additional, Jahl, Steve, additional, Jarvik, Gail P., additional, Jiang, Yunyun, additional, Johanson, Eric, additional, Jolly, Angad, additional, Karaca, Ender, additional, Khayat, Michael, additional, Knight, James, additional, Kolar, J. Thomas, additional, Kumar, Sushant, additional, Lalani, Seema, additional, Laricchia, Kristen M., additional, Larkin, Kathryn E., additional, Leal, Suzanne M., additional, Lemire, Gabrielle, additional, Lewis, Richard A., additional, Li, He, additional, Ling, Hua, additional, Lipson, Rachel B., additional, Liu, Pengfei, additional, Lovgren, Alysia Kern, additional, López-Giráldez, Francesc, additional, MacMillan, Melissa P., additional, Mangilog, Brian E., additional, Mano, Stacy, additional, Marafi, Dana, additional, Marosy, Beth, additional, Marshall, Jamie L., additional, Martin, Renan, additional, Marvin, Colby T., additional, Mawhinney, Michelle, additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mehaffey, Michelle, additional, Mekonnen, Betselote, additional, Meng, Xiaolu, additional, Mitani, Tadahiro, additional, Miyake, Christina Y., additional, Mohr, David, additional, Morris, Shaine, additional, Mullen, Thomas E., additional, Murdock, David R., additional, Murugan, Mullai, additional, Muzny, Donna M., additional, Myers, Ben, additional, Neira, Juanita, additional, Nguyen, Kevin K., additional, Nielsen, Patrick M., additional, Nudelman, Natalie, additional, O’Heir, Emily, additional, O’Leary, Melanie C., additional, Ongaco, Chrissie, additional, Orange, Jordan, additional, Osei-Owusu, Ikeoluwa A., additional, Paine, Ingrid S., additional, Pais, Lynn S., additional, Paschall, Justin, additional, Patterson, Karynne, additional, Pehlivan, Davut, additional, Pelle, Benjamin, additional, Penney, Samantha, additional, Perez de Acha Chavez, Jorge, additional, Pierce-Hoffman, Emma, additional, Poli, Cecilia M., additional, Punetha, Jaya, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Rodrigues, Eliete, additional, Roote, Gwendolin T., additional, Rosenfeld, Jill A., additional, Ryke, Erica L., additional, Sabo, Aniko, additional, Sanchez, Alice, additional, Schrauwen, Isabelle, additional, Scott, Daryl A., additional, Sedlazeck, Fritz, additional, Serrano, Jillian, additional, Shaw, Chad A., additional, Shelford, Tameka, additional, Shively, Kathryn M., additional, Singer-Berk, Moriel, additional, Smith, Joshua D., additional, Snow, Hana, additional, Snyder, Grace, additional, Solomonson, Matthew, additional, Son, Rachel G., additional, Song, Xiaofei, additional, Stankiewicz, Pawel, additional, Stephan, Taylorlyn, additional, Sutton, V. Reid, additional, Sveden, Abigail, additional, Sánchez, Diana Cornejo, additional, Tackett, Monica, additional, Talkowski, Michael, additional, Threlkeld, Machiko S., additional, Tiao, Grace, additional, Udler, Miriam S., additional, Vail, Laura, additional, Valivullah, Zaheer, additional, Valkanas, Elise, additional, VanNoy, Grace E., additional, Wang, Qingbo S., additional, Wang, Gao, additional, Wang, Lu, additional, Wangler, Michael F., additional, Watts, Nicholas A., additional, Weisburd, Ben, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, White, Janson J., additional, Williamson, Clara E., additional, Wilson, Michael W., additional, Wiszniewski, Wojciech, additional, Withers, Marjorie A., additional, Witmer, Dane, additional, Witzgall, Lauren, additional, Wohler, Elizabeth, additional, Wojcik, Monica H., additional, Wong, Isaac, additional, Wood, Jordan C., additional, Wu, Nan, additional, Xing, Jinchuan, additional, Yang, Yaping, additional, Yi, Qian, additional, Yuan, Bo, additional, Zeiger, Jordan E., additional, Zhang, Chaofan, additional, Zhang, Peng, additional, Zhang, Yan, additional, Zhang, Xiaohong, additional, Zhang, Yeting, additional, Zhang, Shifa, additional, Zoghbi, Huda, additional, and van den Veyver, Igna, additional

Published
2022
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25. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Author

Yuan, Bo, Pehlivan, Davut, Karaca, Ender, Patel, Nisha, Charng, Wu-Lin, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Sutton, V. Reid, Yesil, Gozde, Bozdogan, Sevcan Tug, Tos, Tulay, Koparir, Asuman, Koparir, Erkan, Beck, Christine R., Gu, Shen, Aslan, Huseyin, Yuregir, Ozge Ozalp, Rubeaan, Khalid Al, Alnaqeb, Dhekra, Alshammari, Muneera J., Bayram, Yavuz, Atik, Mehmed M., Aydin, Hatip, Geckinli, B. Bilge, Seven, Mehmet, Ulucan, Hakan, Fenercioglu, Elif, Ozen, Mustafa, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Tuysuz, Beyhan, Alkuraya, Fowzan S., Gibbs, Richard A., and Lupski, James R.

Subjects
Gene mutations -- Identification and classification, Genetic research, De Lange syndrome -- Diagnosis -- Development and progression, Exome sequencing -- Methods, Genetic transcription -- Research, Health care industry
Abstract

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be 'transcriptomopathies' rather than cohesinopathies., Introduction Cornelia de Lange syndrome (CdLS, MIM # 122470, MIM # 300590, MIM # 610759, MIM # 614701, and MIM # 300882) was initially described by Brachmann in 1916 and [...]

Published
2015
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26. Gazetecilerin Haber Yapma Pratiklerinin Yerel Düzeyde İnsan Hakları Açısından Araştırılması: Trabzon Örneği

Author

KEBELEK, Elif and BAYRAM, Yavuz

Subjects
Communication, İletişim, İnsan Hakları,Hak Haberciliği,Habercilik Pratikleri,Yerel Medya,Anket Uygulaması, Human Rights,Rights Journalism,Journalism Practices,Local Media,Survey Application
Abstract

The local media has an important role in the formation of the local agenda, especially with its news at the local level. The concept of human rights has been discussed on the hot agenda of societies for years. The reflection of this concept in the media is the concept of rights-based journalism. This study aims to measure the extent to which local journalists are sensitive to human rights in their reporting practices, and the effects of individual and institutional factors and the education they receive on this issue on rights journalism. For this purpose, the city of Trabzon, which has a developed local media and has recently come to the fore with some negativities regarding human rights, and local journalists working there are included in the sample. A questionnaire was applied to local journalists, and the data obtained were analyzed using the GNU PSPP 1.2.0 statistical package program. As a result of the survey, it was found that the participants gave the necessary importance to human rights and rights journalism education, but sometimes they could not maintain this sensitivity while writing the news, because at this point, some individual and institutional factors were effective., Yerel medya özellikle yerel ve bölgesel düzeyde yapmış olduğu haberlerle, yerelin siyasal ve kamusal gündeminin oluşmasında önemli bir role sahiptir. İnsan hakları konusu uzun zamandır toplumların sıcak gündemi içerisinde yer almakta, medya yaptığı ya da yapmadığı haberlerle insan haklarının korunmasına olumlu/olumsuz bir biçimde katkıda bulunmaktadır. İnsan hakları düşüncesinin medyadaki yansıması ise hak haberciliği olarak karşımıza çıkmaktadır. Yapılan bu çalışma yerel düzeyde faaliyet gösteren gazetecilerin haber yapma pratiklerinde insan haklarına ne ölçüde duyarlı olduklarını, bireysel, kurumsal faktörlerin ve bu konudaki aldıkları eğitimin hak haberciliğine etkilerini ölçmek hedefindedir. Bu amaçla Türkiye’nin yakın siyasi tarihinde görülen insan haklarına ilişkin bir takım olumsuzlukların yaşandığı bir şehir olmasının yanı sıra yerel medyasının gelişmiş olduğu bir şehir olarak da Trabzon kenti ve burada çalışan yerel gazeteciler örnekleme dahil edilmiştir. Yerel gazetecilere, hazırlanan anket formu uygulanmış, elde edilen veriler GNU PSPP 1.2.0 istatistik paket programı kullanılarak analiz edilmiştir. Uygulanan anket çalışması sonucunda, Trabzon yerel medyasında çalışan gazetecilerin insan haklarına ve hak habercilik eğitimine gerekli önemi verdikleri, fakat haber yazarken insan haklarına ilişkin duyarlılıklarını kimi durumlarda koruyamadıkları ve dolayısıyla teorik düzeyde sahip oldukları duyarlılığı haber yazım süreçlerine yansıtamadıkları tespit edilmiştir. Bu durumun ortaya çıkmasında ise bireysel ve kurumsal bir takım faktörlerin etkili olduğu bulgularına ulaşılmıştır.

Published
2021

29. Brain monoamine vesicular transport disease caused by homozygous SLC18A2variants: A study in 42 affected individuals

Author

Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, and Matsumoto, Naomichi

Abstract

Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. To date, only 6 variants have been reported. In this study, we evaluated genotype–phenotype correlations in individuals with biallelic SLC18A2variants.

Published
2023
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31. Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Author

Bayram, Yavuz, Gulsuner, Suleyman, Guran, Tulay, Abaci, Ayhan, Yesil, Gozde, Gulsuner, Hilal Unal, Atay, Zeynep, Pierce, Sarah B., Gambin, Tomasz, Lee, Ming, Turan, Serap, Bober, Ece, Atik, Mehmed M., Walsh, Tom, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna, Bereket, Abdullah, Buyukgebiz, Atilla, Boerwinkle, Eric, Gibbs, Richard A., King, Mary-Claire, and Lupski, James R.

Published
2015

33. Publishing Outcomes of Abstracts Presented at the European Society of Pediatric Otorhinolaryngology Congress in 2018: A Web-Based Analysis.

Author

Gökler, Ozan, Coşkuntürk, Ali, Bayram, Yavuz, Ünsaler, Selin, Altuntaş, Ozan, and Çetin, Feyza

Subjects
OTOLARYNGOLOGY, POSTER presentations, INFORMATION dissemination, INFORMATION scientists, PUBLISHED articles
Abstract

Background: Clinicians and researchers share their projects in congresses, which are collaborative meetings that enhance the dissemination of information among scientists. Furthermore, critical evaluations of their colleagues help the progress of their research. However, the main focus of any research is publication. In this study, we assess the effect of the European Society of Pediatric Otorhinolaryngology 2018 meeting on the publication rate of abstracts submitted. The aim of this study was to determine whether attending the ESPO 2018 congress had an impact on the publication rate of oral and poster presentations. Methods: All abstracts submitted to the European Society of Pediatric Otorhinolaryngology 2018 Congress catalog were searched in Google Scholar via corresponding title and author to identify the ones that were published. The date of publication, name, and impact factor of the journals of published articles was recorded. Results: A total of 785 abstracts (217 oral, 568 posters) were accepted. Of all abstracts, 21.3% (n = 167) were published. Out of all publications, 32% (n = 53) were oral presentations and 68% (n = 114) were poster presentations. There were 62 different journals with an average weighted 3-year impact factor of 2.06 (±1.09 standard deviation). The 3 most common journals were Int J Pediatr Otorhinolaryngol (n = 49, impact factor: 1.64 ), Laryngoscope (n = 12, impact factor: 2.81 ), and Eur Arch Otorhinolaryngol (n = 10, impact factor: 2.16). Conclusion: Our publication rate of 21.27% is low when compared to oral-only meetings but is similar to others having both oral and poster presentations. We found out that poster presentations reduced the overall publication rate and were published in journals having lower impact factors when compared to oral presentations. [ABSTRACT FROM AUTHOR]

Published
2022
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35. Türkiye’de Akademik Düzeydeki Gazetecilik Çalışmalarını Değerlendirmek: 2009-2019 Dönemi İletişim Fakültesi Dergileri’ne Yönelik Nicel Bir Araştırma

Author

BAYRAM, Yavuz

Subjects
İletişim fakültesi dergileri,gazetecilik çalışmaları,betimsel analiz,içerik analizi, Communication, İletişim
Abstract

Türkiye’de iletişim alanının akademik seviyede kurumsallaşmasının tarihi Batı’ya göre çok yenidir. İletişim alanının Batılı ülkelerin karar alıcıları, reklam verenleri, politikacıları ve işadamlarınca değerinin anlaşılması neredeyse 1900’lerin başına kadar dayanır. Oysa Türkiye’de iletişim alanında fakülte olarak hizmet veren ilk akademik yapı 1992 yılında oluşturulmuştur. Yapılan bu çalışma Türkiye’de yaklaşık otuz yıllık geçmişi olan iletişim fakültelerinin akademik dergilerinin gazetecilik alanıyla ilgili yaptıkları yayınların seyrini irdeleme amacındadır. Bu çalışmada son on bir yılda düzenli olarak yayınlanan iletişim fakültelerinin akademik dergilerinin gazetecilik alanıyla ilgili yayınlamış olduğu üç yüz adet makale içerik analizi yöntemi kullanılarak analiz edilmiştir. Çalışma sonunda ulaşılan sonuçlar şu şekildedir; Anadolu’nun çeşitli şehirlerinde yaygınlaşmış olan iletişim fakültelerine ait dergiler Ankara, İstanbul gibi büyük şehirlerde kurulu olan iletişim fakültelerinin dergilerine oranla gazetecilik alanıyla ilgili daha fazla makale yayınlamıştır. Gazetecilik alanıyla ilgili yapılan makaleler önemli oranda uygulama içeren çalışmalardır. Nitel analiz yöntemi kullanan çalışmaların gittikçe artan oranda alana katkı yapması söz konusudur. İncelenen çalışmaların en temel araştırma sorunsalını bir takım sorun/konu/olay ve olguların medyada nasıl temsil edildiği oluşturmuştur. Bununla birlikte web tabanlı uygulamaların gazetecilik mesleğine nasıl etkide bulunduğu sorusu da gazetecilik alanında araştırma yapanların gittikçe artan bir şekilde ilgi gösterdiği konu olarak ortaya çıkmıştır.

Published
2020

36. De novo mutation in ancestral generations evolves haplotypes contributing to disease

Author

Coban-Akdemir, Zeynep, Song, Xiaofei, Pehlivan, Davut, Karaca, Ender, Bayram, Yavuz, Gambin, Tomasz, Jhangiani, Shalini N., Muzny, Donna M., Lewis, Richard A., Liu, Pengfei, Boerwinkle, Eric, Hamosh, Ada, Gibbs, Richard A., Sutton, V. Reid, Sobreira, Nara, Carvalho, Claudia M. B., Posey, Jennifer E., Shaw, Chad A., Valle, David, and Lupski, James R.

Abstract

Summary We investigated the influences of admixture and consanguinity on the genetic architecture of disease by generating a database of variants derived from exome sequencing (ES) of 853 unrelated Turkish (TK) individuals with different disease phenotypes. We observed that TK genomes are more similar to Europeans with 69.3% of the unique variants (N = 356,613) not present in the Greater Middle Eastern variome. We found higher inbreeding coefficient values in the TK cohort correlating with a larger median span of long-sized (>1.606 Mb) runs of homozygosity (ROH). We show that long-sized ROHs arose from recently configured haplotypes and are enriched for rare homozygous deleterious variants. Such haplotypes, and the combinatorial effect of their embedded ultra-rare variants, provide the most explanatory molecular diagnoses for the TK individuals’ observed disease traits. Such haplotype evolution results in homozygosity of disease associated haplotypes due to identity-by-descent in a family or extended clan.

Published
2020
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38. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy

Author

Marafi, Dana, primary, Mitani, Tadahiro, additional, Isikay, Sedat, additional, Hertecant, Jozef, additional, Almannai, Mohammed, additional, Manickam, Kandamurugu, additional, Abou Jamra, Rami, additional, El‐Hattab, Ayman W., additional, Rajah, Jaishen, additional, Fatih, Jawid M., additional, Du, Haowei, additional, Karaca, Ender, additional, Bayram, Yavuz, additional, Punetha, Jaya, additional, Rosenfeld, Jill A., additional, Jhangiani, Shalini N., additional, Boerwinkle, Eric, additional, Akdemir, Zeynep C., additional, Erdin, Serkan, additional, Hunter, Jill V., additional, Gibbs, Richard A., additional, Pehlivan, Davut, additional, Posey, Jennifer E., additional, and Lupski, James R., additional

Published
2020
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39. The Genomics Of Arthrogryposis, A Complex Trait: Candidate Genes And Further Evidence For Oligogenic Inheritance

Author

Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Akdemir, Zeynep Coban, Shukla, Anju, Bierhals, Tatjana, Tabakci, Burcu, Sahin, Yavuz, Gezdirici, Alper, Fatih, Jawid M., Gulec, Elif Yilmaz, Yesil, Gozde, Punetha, Jaya, Ocak, Zeynep, Grochowski, Christopher M., Karaca, Ender, Albayrak, Hatice Mutlu, Radhakrishnan, Periyasamy, Erdem, Haktan Bagis, and Sahin, Ibrahim

Abstract

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members.

Published
2019

41. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Author

Karaca, Ender, primary, Posey, Jennifer E., additional, Bostwick, Bret, additional, Liu, Pengfei, additional, Gezdirici, Alper, additional, Yesil, Gozde, additional, Coban Akdemir, Zeynep, additional, Bayram, Yavuz, additional, Harms, Frederike L., additional, Meinecke, Peter, additional, Alawi, Malik, additional, Bacino, Carlos A., additional, Sutton, V. Reid, additional, Kortüm, Fanny, additional, and Lupski, James R., additional

Published
2019
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42. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Author

Paine, Ingrid, primary, Posey, Jennifer E., additional, Grochowski, Christopher M., additional, Jhangiani, Shalini N., additional, Rosenheck, Sarah, additional, Kleyner, Robert, additional, Marmorale, Taylor, additional, Yoon, Margaret, additional, Wang, Kai, additional, Robison, Reid, additional, Cappuccio, Gerarda, additional, Pinelli, Michele, additional, Magli, Adriano, additional, Coban Akdemir, Zeynep, additional, Hui, Joannie, additional, Yeung, Wai Lan, additional, Wong, Bibiana K.Y., additional, Ortega, Lucia, additional, Bekheirnia, Mir Reza, additional, Bierhals, Tatjana, additional, Hempel, Maja, additional, Johannsen, Jessika, additional, Santer, René, additional, Aktas, Dilek, additional, Alikasifoglu, Mehmet, additional, Bozdogan, Sevcan, additional, Aydin, Hatip, additional, Karaca, Ender, additional, Bayram, Yavuz, additional, Ityel, Hadas, additional, Dorschner, Michael, additional, White, Janson J., additional, Wilichowski, Ekkehard, additional, Wortmann, Saskia B., additional, Casella, Erasmo B., additional, Kitajima, Joao Paulo, additional, Kok, Fernando, additional, Monteiro, Fabiola, additional, Muzny, Donna M., additional, Bamshad, Michael, additional, Gibbs, Richard A., additional, Sutton, V. Reid, additional, Van Esch, Hilde, additional, Brunetti-Pierri, Nicola, additional, Hildebrandt, Friedhelm, additional, Brautbar, Ariel, additional, Van den Veyver, Ignatia B., additional, Glass, Ian, additional, Lessel, Davor, additional, Lyon, Gholson J., additional, and Lupski, James R., additional

Published
2019
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43. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Author

Pehlivan, Davut, primary, Bayram, Yavuz, additional, Gunes, Nilay, additional, Coban Akdemir, Zeynep, additional, Shukla, Anju, additional, Bierhals, Tatjana, additional, Tabakci, Burcu, additional, Sahin, Yavuz, additional, Gezdirici, Alper, additional, Fatih, Jawid M., additional, Gulec, Elif Yilmaz, additional, Yesil, Gozde, additional, Punetha, Jaya, additional, Ocak, Zeynep, additional, Grochowski, Christopher M., additional, Karaca, Ender, additional, Albayrak, Hatice Mutlu, additional, Radhakrishnan, Periyasamy, additional, Erdem, Haktan Bagis, additional, Sahin, Ibrahim, additional, Yildirim, Timur, additional, Bayhan, Ilhan A., additional, Bursali, Aysegul, additional, Elmas, Muhsin, additional, Yuksel, Zafer, additional, Ozdemir, Ozturk, additional, Silan, Fatma, additional, Yildiz, Onur, additional, Yesilbas, Osman, additional, Isikay, Sedat, additional, Balta, Burhan, additional, Gu, Shen, additional, Jhangiani, Shalini N., additional, Doddapaneni, Harsha, additional, Hu, Jianhong, additional, Muzny, Donna M., additional, Boerwinkle, Eric, additional, Gibbs, Richard A., additional, Tsiakas, Konstantinos, additional, Hempel, Maja, additional, Girisha, Katta Mohan, additional, Gul, Davut, additional, Posey, Jennifer E., additional, Elcioglu, Nursel H., additional, Tuysuz, Beyhan, additional, and Lupski, James R., additional

Published
2019
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44. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

Author

Jolly, Angad, primary, Bayram, Yavuz, additional, Turan, Serap, additional, Aycan, Zehra, additional, Tos, Tulay, additional, Abali, Zehra Yavas, additional, Hacihamdioglu, Bulent, additional, Coban Akdemir, Zeynep Hande, additional, Hijazi, Hadia, additional, Bas, Serpil, additional, Atay, Zeynep, additional, Guran, Tulay, additional, Abali, Saygin, additional, Bas, Firdevs, additional, Darendeliler, Feyza, additional, Colombo, Roberto, additional, Barakat, Tahsin Stefan, additional, Rinne, Tuula, additional, White, Janson J, additional, Yesil, Gozde, additional, Gezdirici, Alper, additional, Gulec, Elif Yilmaz, additional, Karaca, Ender, additional, Pehlivan, Davut, additional, Jhangiani, Shalini N, additional, Muzny, Donna M, additional, Poyrazoglu, Sukran, additional, Bereket, Abdullah, additional, Gibbs, Richard A, additional, Posey, Jennifer E, additional, and Lupski, James R, additional

Published
2019
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46. Gençlerin Siyaset Gündemi Konularına Yaklaşımı ve Medya Kullanım Alışkanlıklarının Belirlenmesi: 15 Temmuz Darbe Girişimi Örnek Olayı

Author

BAYRAM, Yavuz

Subjects
Social, Siyaset Gündemi,Medya Kullanımı,Üniversite Gençliği,15TemmuzDarbeGirişimi, Political agenda,media usage,university youth,The July 15 coup attempt, Sosyal
Abstract

Mass media are the mostimportant sources of information regarding the political agenda of today'speople. Especially in cases of political and social crisis, mass media plays acrucial role in constructing opinion. Today, young people in a closer relationshipwith technology are undergoing change and transformation at the point offollowing the news media and forming their political agendas. In this study, itwas attempted to find answers to the questions about how educated young peoplefollow their political agendas, what factors are influential in determiningtheir political attitudes, how often they follow different media, and how theyinterpret the role played by the media during the July 15 coup. Questionnaireswere applied to the sample group selected from the students who hadundergraduate education at Karadeniz Technical University. As a result of thestudy, young people are more informed that they are following the politicalagenda from the internet based information sources rather than the traditionalones and that they are more dependent on traditional information sources andthe environments where the primary relations are valid in terms of developingpolitical attitudes. It has also been determined that young people have a highlevel of interest in the political agenda and that young people think they areknowledgeable in this regard. It was also found that college youngsters paidattention to the role of the media during the July 15 coup, but that theythought the media did not adequately inform themselves., Günümüz insanının siyasalgündeme ilişkin en önemli enformasyon kaynaklarını kitle iletişim araçlarıoluşturmaktadır. Özellikle siyasal ve sosyal kriz durumlarında kitle iletişimaraçları kanaat oluşturmada hayati bir rol oynamaktadır. Teknoloji ile dahayakın ilişki içerisindeki genç nüfusun günümüzde haber medyasını takip etme vesiyasal gündemlerini oluşturma noktasında değişim ve dönüşüm gözlemlenmektedir.Yapılan bu çalışmada eğitimli gençlerin siyasal gündemlerini hangi kaynaklardantakip ederek oluşturdukları, siyasal tutumlarını belirlemede hangi faktörlerinetkili olduğu, farklı medyaları ne sıklıkla takip ettikleri ve 15 Temmuz darbesürecinde medyanın oynadığı rolü nasıl yorumladıkları sorularına cevapbulunmaya çalışılmıştır. Karadeniz Teknik Üniversitesi’nde lisans düzeyindeeğitim gören öğrencilerden seçilen örneklem grubuna anket çalışmasıuygulanmıştır. Çalışma sonucunda gençlerin gelenekselden çok internet tabanlıenformasyon kaynaklarından siyasal gündemi takip ettikleri, siyasal tutumgeliştirme noktasında ise geleneksel enformasyon kaynakları ve birincililişkilerin geçerli olduğu ortamlara daha bağlı kaldıkları bilgisine ulaşılmıştır.Ayrıca gençlerin siyasal gündem konularına yüksek düzeyde ilgi gösterdikleri vebu konuda kendilerini bilgili saydıkları da saptanmıştır. Üniversiteligençlerin 15 Temmuz darbe sürecinde de medyanın rolünü önemsediği, fakat busüreçte medyanın kendilerini yeterince bilgilendirmediğini düşündüklerisonuçlarına da ulaşılmıştır.

Published
2017

48. Phenotypic expansion illuminates multilocus pathogenic variation

Author

Karaca, Ender, primary, Posey, Jennifer E., additional, Coban Akdemir, Zeynep, additional, Pehlivan, Davut, additional, Harel, Tamar, additional, Jhangiani, Shalini N., additional, Bayram, Yavuz, additional, Song, Xiaofei, additional, Bahrambeigi, Vahid, additional, Yuregir, Ozge Ozalp, additional, Bozdogan, Sevcan, additional, Yesil, Gozde, additional, Isikay, Sedat, additional, Muzny, Donna, additional, Gibbs, Richard A., additional, and Lupski, James R., additional

Published
2018
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49. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Author

Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, and Hunter, Jill V.

Subjects
CEREBRAL atrophy, NEUROTRANSMITTER receptors, GLUTAMATE receptors, NEURAL transmission, EPILEPSY, LEUKODYSTROPHY, NEUROCYSTICERCOSIS
Abstract

Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G‐protein‐coupled glutamate receptor critical for synaptic transmission. We previously proposed GRM7 as a candidate disease gene in two families with neurodevelopmental disorders (NDDs). One additional family has been published since. Here, we describe three additional families with GRM7 biallelic variants and deeply characterize the associated clinical neurological and electrophysiological phenotype and molecular data in 11 affected individuals from six unrelated families. Methods: Exome sequencing and family‐based rare variant analyses on a cohort of 220 consanguineous families with NDDs revealed three families with GRM7 biallelic variants; three additional families were identified through literature search and collaboration with a clinical molecular laboratory. Results: We compared the observed clinical features and variants of 11 affected individuals from the six unrelated families. Identified novel deleterious variants included two homozygous missense variants (c.2671G>A:p.Glu891Lys and c.1973G>A:p.Arg685Gln) and one homozygous stop‐gain variant (c.1975C>T:p.Arg659Ter). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Three individuals had hypothalamic–pituitary–axis dysfunction without pituitary structural abnormality. Neuroimaging showed cerebral atrophy and hypomyelination in a majority of cases. Two siblings demonstrated progressive loss of myelination by 2 years in both and an acquired microcephaly pattern in one. Five individuals died in early or late childhood. Conclusion: Detailed clinical characterization of 11 individuals from six unrelated families demonstrates that rare biallelic GRM7 pathogenic variants can cause DEEs, microcephaly, hypomyelination, and cerebral atrophy. [ABSTRACT FROM AUTHOR]

Published
2020
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50. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Author

Coban-Akdemir, Zeynep, primary, White, Janson J., additional, Song, Xiaofei, additional, Jhangiani, Shalini N., additional, Fatih, Jawid M., additional, Gambin, Tomasz, additional, Bayram, Yavuz, additional, Chinn, Ivan K., additional, Karaca, Ender, additional, Punetha, Jaya, additional, Poli, Cecilia, additional, Boerwinkle, Eric, additional, Shaw, Chad A., additional, Orange, Jordan S., additional, Gibbs, Richard A., additional, Lappalainen, Tuuli, additional, Lupski, James R., additional, and Carvalho, Claudia M.B., additional

Published
2018
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