المؤلفون: Yogapriya Sundaresan, Antonio Rivera, Alexey Obolensky, Prakadeeswari Gopalakrishnan, Hanit Ohayon Hadad, Aya Shemesh, Samer Khateb, Maya Ross, Ron Ofri, Sharon Durst, Hadas Newman, Rina Leibu, Shiri Soudry, Dinah Zur, Tamar Ben-Yosef, Eyal Banin, Dror Sharon

المصدر: Genes, Vol 15, Iss 6, p 804 (2024)

مصطلحات موضوعية: clinical manifestation, exonic sequence enhancer, gene expression, retinal disease, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/6/804Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/586c2808fa8c4ba4aec928c15384719dTest

المؤلفون: Chen Matsevich, MSc, Prakadeeswari Gopalakrishnan, PhD, Alexey Obolensky, MD, PhD, Eyal Banin, MD, PhD, Dror Sharon, PhD, Avigail Beryozkin, PhD

المصدر: Ophthalmology Science, Vol 3, Iss 1, Pp 100229- (2023)

مصطلحات موضوعية: Knock-in mouse model, Fam161a gene, Retinal degeneration, Nonsense pathogenic variant, Disease course, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S266691452200118XTest; https://doaj.org/toc/2666-9145Test

الوصول الحر: https://doaj.org/article/b00088d98ead49f984235a652f32a32dTest

المؤلفون: Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, Samer Khateb, Eyal Banin, Dror Sharon, Kerstin Nagel-Wolfrum

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 7, p 3541 (2022)

مصطلحات موضوعية: FAM161A, retinitis pigmentosa, fibroblasts, ataluren, gentamicin, translational read-through drugs, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/23/7/3541Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/03eafda0dd054e07a17bf9c216174477Test

المؤلفون: Aung, Tin, Ozaki, Mineo, Lee, Mei, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert, Haripriya, Aravind, Williams, Susan, Astakhov, Yury, Orr, Andrew, Burdon, Kathryn, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica, Cherecheanu, Alina, Kang, Jae, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki, Cha, Soon, Yamashiro, Kenji, Zenteno, Juan, Jonas, Jost, Kumar, Rajesh, Perera, Shamira, Chan, Anita, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak, de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan, Beni, Afsaneh, Yazdani, Shahin

المصدر: Nature Genetics. 49(7)

مصطلحات موضوعية: Aged, 80 and over, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian People, Calcium Channels, Cell Adhesion, Exfoliation Syndrome, Extracellular Matrix, Eye, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Male, Molecular Chaperones, Mutation, Missense, Point Mutation, RNA, Messenger, Spheroids, Cellular

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8v79f9zkTest

المؤلفون: Talya Millo, Antonio Rivera, Alexey Obolensky, Devora Marks-Ohana, Mingchu Xu, Yumei Li, Enosh Wilhelm, Prakadeeswari Gopalakrishnan, Menachem Gross, Boris Rosin, Mor Hanany, Andrew Webster, Anna Maria Tracewska, Robert K. Koenekoop, Rui Chen, Gavin Arno, Ora Schueler-Furman, Susanne Roosing, Eyal Banin, Dror Sharon

المصدر: Genetics in Medicine, 24, 1523-1535
Genetics in Medicine, 24, 7, pp. 1523-1535

مصطلحات موضوعية: Phenotype, DNA Mutational Analysis, Mutation, Humans, Genes, Recessive, Genetic Association Studies, Retinitis Pigmentosa, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical), Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2707f55251632b0d5b726a7c3a9a156eTest
https://hdl.handle.net/2066/282709Test

المؤلفون: Alaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, Marije de Jong, Alexey Obolensky, Ayat Khalaileh, Manar Salameh, Ayala Ejzenberg, Menachem Gross, Eyal Banin, Dror Sharon, Samer Khateb

المصدر: Translational Vision Science & Technology. 12:3

مصطلحات موضوعية: Ophthalmology, Biomedical Engineering

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9742e9074e4c4d90bf8e62d86e471a3dTest
https://doi.org/10.1167/tvst.12.3.3Test

المؤلفون: Aung, Tin, P, Ozaki, Mineo, Lee, Mei Chin, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert, Haripriya, Aravind, Williams, Susan, Astakhov, Yury, Orr, Andrew, Burdon, Kathryn, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica, Cherecheanu, Alina Popa, Kang, Jae, H., Nelson, Sarah, Hayashi, Ken, Manabe, Shin-Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Ken, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Ken, Zenteno, Juan, Jonas, Jost, Kumar, Rajesh, Perera, Shamira, Cha, Anita, Kobakhidze, Nino, George, Ronnie, Li, Lingam, Do, Tan, Edward, Deepak, de Juan Marcos, Juan, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda, Yang, Zheng, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Li, Liyun, Qiao, Chunyan, Zhang, Hui, Li, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Li, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Cha, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Vijaya, Vijayan, Venkatesh, Rengaraj, Cha, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan, Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniel, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Mori, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz-Aguilar, Marisa, Ezzouhairi, Sidi, Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor, Khan, Muhammad Imran, Olawoye, Olusola, Ashaye, Adeyinka, Ugbede, Idakwo, Onakoya, Adeola, Kizor-Akaraiwe, Nkiru, Cha, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi, Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior-Jarecka, Ewa, Lukasik, Urszula, Li, Ignacio, Castro, Vania, Grossmann, Per, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard, Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex, Coote, Michael, Crowston, Jonathan, Astakhov, Sergei, Akopov, Eugeny, Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al-Obeidan, Saleh, Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Jia, Jia Nee, Soh, Raphael, Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine, Mok, Shi Qi, Soo, Hui, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Li, Su-Ling, Hillmer, Axel, Chen, Ching-Yu, Do, Francisco, González-Sarmiento, Rogelio, Martinon-Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Wanichwecharugruang, Boonsong, Kitnarong, Naris, Sakuntabhai, Anavaj, Ng, Hip, Ng, Giang, Ng, Trình, Zenz, Werner, Binder, Alex, Klobassa, Daniel, Hibberd, Martin, L, Davila, Sonia, Herms, Stefan, Nöthen, Markus, Moebus, Susan, Rautenbach, Robyn, Ziskind, Ari, Carmichael, Trevor, Ramsay, Michele, Álvarez, Lydia, García, Montserrat, González-Iglesias, Héctor, Rodríguez-Calvo, Pedro, Cueto, Luis Fernández-Vega, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasim, Burcu, Coleman, Anne, Li, Yutao, Cha, Pratap, Herndon, Leon, Kuchtey, Rachel, Kuchtey, John, Curtin, Karen, Cha, Craig, Crandall, Alan, Li, Linda, Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, Ho, Anne, Vesti, Eija, Fingert, John, Lee, Richard, Sit, Arthur, Shingleton, Bradford, Wang, Ningli, Cusi, Daniel, Qamar, Raheel, Kraft, Peter, Pericak-Vance, Margaret, Raychaudhuri, Soumya, Heegaard, Steffen, Kivelä, Tero, Reis, André, Kruse, Friedrich, Weinreb, Robert, Pasquale, Louis, Haines, Jonathan, L., Thorsteinsdóttir, Unnur, Jonasson, Fridbert, Allingham, R Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga, Micheal, Shazia, Topouzis, Fotis, Craig, Jamie E, Dubina, Michael, Sundaresan, Per, Stefansson, Stefan, Wiggs, Janey, Pasutto, Francesca, Khor, Chiea Chuen

المساهمون: Singapore Eye Research Institute Singapore (SERI), Ozaki Eye Hospital Miyazaki, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), deCODE genetics Reykjavik, Mizoguchi Eye Hospital Sasebo, Case Western Reserve University Cleveland, Aravind Eye Hospital Madurai, India, University of the Witwatersrand Johannesburg (WITS), Pavlov First Saint Petersburg State Medical University St. Petersburg, Dalhousie University Halifax, Flinders University Adelaide, Australia, Kyoto Prefectural University of Medicine Kyoto, Japon, King Saud University Riyadh (KSU), Genome Institute of Singapore (GIS), Aravind Medical Research Foundation (AMRF), Université de Médecine Carol Davila, Harvard Medical School Boston (HMS), University of Washington Seattle, Hayashi Eye Hospital Fukuoka, Shinjo Eye Clinic Nagoya, Medical University of Lublin, Inoue Eye Hospital Tokyo, Hacettepe University = Hacettepe Üniversitesi, Universidad de Oviedo Oviedo, Kanazawa University (KU), Department of Medical and Clinical Genetics Helsinki, Haartman Institute Helsinki, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Organizacion Medica de Investigacion (OMI BUENOS AIRES), Fundacion para el Estudio del Glaucoma Buenos Aires, Chercheur indépendant, Eskisehir Osmangazi University, Ufa Eye Research Institute Bashkortostan, Seoul National University Hospital, Yeungnam University South Korea, Kyoto University, Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Universität Heidelberg Heidelberg = Heidelberg University, Birla Institute of Scientific Research (BISR), B. M. Birla Science and Technology Center, Faculty of Computer Science, Department of Pathology and Immunology, Geneva University Hospital (HUG), Key Laboratory for Information System Security, ministry of education, Numerical modeling and high performance computing for evolution problems in complex domains and heterogeneous media (NACHOS), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (LJAD), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institute of Human Genetics Erlangen, Allemagne, Department of Ophthalmology, School of Medicine Thessaloniki, Grèce, Aristotle University of Thessaloniki, Università degli Studi di Siena = University of Siena (UNISI), Department of Medicine, Surgery, and Dentistry, University of Milano, Japan Advanced Institute of Science and Technology (JAIST), Etudes génomiques trans-ethniques des maladies multifactorielles, Kyoto University-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondation Ophtalmologique Adolphe de Rothschild Paris, Archaeogenetics Laboratory, Génétique fonctionnelle des Maladies infectieuses - Functional Genetics of Infectious Diseases, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Rheinische Friedrich-Wilhelms-Universität Bonn, University of Kentucky (UK), Helsinki University Eye Hospital, Turku University Hospital, Turku, Finland, COMSATS Institute of Information Technology (CIIT), Department of Epidemiology, Harvard School of Public Health, University of Miami Leonard M. Miller School of Medicine (UMMSM), Brigham and Women's Hospital Boston, Department of Neuroscience and Pharmacology, Section of Eye Pathology, University of Copenhagen, University of Copenhagen = Københavns Universitet (UCPH), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of California San Diego (UC San Diego), University of California (UC), University of Iceland Reykjavik, New York Eye and Ear Infirmary of Mount Sinai New York (NYEE), Oita University Faculty of Medicine Oita, Japon, Radboud University Medical Center Nijmegen

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28553957; pasteur-02003892; https://pasteur.hal.science/pasteur-02003892Test; https://pasteur.hal.science/pasteur-02003892/documentTest; https://pasteur.hal.science/pasteur-02003892/file/Aung_Genetic_AM2017.pdfTest; PUBMED: 28553957

الإتاحة: https://doi.org/10.1038/ng.3875Test
https://pasteur.hal.science/pasteur-02003892Test
https://pasteur.hal.science/pasteur-02003892/documentTest
https://pasteur.hal.science/pasteur-02003892/file/Aung_Genetic_AM2017.pdfTest

المؤلفون: Chen, Matsevich, Prakadeeswari, Gopalakrishnan, Alexey, Obolensky, Eyal, Banin, Dror, Sharon, Avigail, Beryozkin

المصدر: Ophthalmology science. 3(1)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b74c7de1918c6354d920a134f5610fe5Test
https://pubmed.ncbi.nlm.nih.gov/36420180Test

المؤلفون: Prakadeeswari Gopalakrishnan, Dror Sharon, Shay Ben-Aroya, Avigail Beryozkin, Yogapriya Sundaresan, Mor Hanany, Nina Schneider, Erez Y. Levanon, Eyal Banin

المصدر: Progress in retinal and eye research. 89

مصطلحات موضوعية: medicine.diagnostic_test, Genetic enhancement, Disease, Computational biology, Biology, medicine.disease, Sensory Systems, Retina, Pedigree, Ophthalmology, Retinal Diseases, Retinitis pigmentosa, Mutation, Retinal Dystrophies, medicine, Inheritance Patterns, CRISPR, Humans, Allele, Gene, Genetic Association Studies, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94341ce10034f918f1995e8390dddbf8Test
https://pubmed.ncbi.nlm.nih.gov/34839010Test

المؤلفون: Prakadeeswari Gopalakrishnan, Periasamy Sundaresan, Aravind Haripriya

المصدر: International Ophthalmology. 38:599-606

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, MTHFD1, Pseudoexfoliation syndrome, Single-nucleotide polymorphism, Exfoliation Syndrome, Polymorphism, Single Nucleotide, Gastroenterology, Formate-Tetrahydrofolate Ligase, Minor Histocompatibility Antigens, 03 medical and health sciences, 0302 clinical medicine, Asian People, Aminohydrolases, Multienzyme Complexes, Internal medicine, Genotype, medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Methylenetetrahydrofolate Reductase (NADPH2), Aged, Genetic association, Aged, 80 and over, Methylenetetrahydrofolate Dehydrogenase (NADP), Genetics, biology, business.industry, Haplotype, Case-control study, Middle Aged, medicine.disease, Ophthalmology, 030104 developmental biology, Case-Control Studies, Methylenetetrahydrofolate reductase, 030221 ophthalmology & optometry, biology.protein, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637a90db37d3aba66f5a0afc76d1d18dTest
https://doi.org/10.1007/s10792-017-0498-2Test