Journal articles on the topic 'BRAT1'
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Ertl, Johanna, Ömer Güllülü, Stephanie Hehlgans, Franz Rödel, Donat Kögel, and Benedikt Linder. "BRAT1 Impairs DNA Damage Repair in Glioblastoma Cell Lines." Medical Sciences Forum 3, no. 1 (January 29, 2021): 3. http://dx.doi.org/10.3390/iecc2021-09190.
Full textMahjoub, Areej, Zuzana Cihlarova, Martine Tétreault, Lauren MacNeil, Neal Sondheimer, Keith W. Caldecott, Hana Hanzlikova, and Grace Yoon. "Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia." Neurology Genetics 5, no. 5 (September 4, 2019): e359. http://dx.doi.org/10.1212/nxg.0000000000000359.
Full textLin, En-Bing, and Eric Linton. "Comparisons of BRAT1 gene variants." Communications in Information and Systems 19, no. 4 (2019): 375–90. http://dx.doi.org/10.4310/cis.2019.v19.n4.a2.
Full textYeom, Gyeong Eun, Young Hwa Jung, Soo Yeon Kim, Sun Ah Choi, Hunmin Kim, and Chang Won Choi. "First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report." Neonatal Medicine 29, no. 4 (November 30, 2022): 141–48. http://dx.doi.org/10.5385/nm.2022.29.4.141.
Full textSrivastava, Siddharth, and Sakkubai Naidu. "Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants." Pediatric Neurology Briefs 30, no. 12 (December 1, 2016): 45. http://dx.doi.org/10.15844/pedneurbriefs-30-12-1.
Full textSzymańska, Krystyna, Milena Laure-Kamionowska, Krzysztof Szczałuba, Agnieszka Koppolu, Mariusz Furmanek, Katarzyna Kuśmierska, Snir Boniel, Rafał Płoski, and Małgorzata Rydzanicz. "Clinico-pathological correlation in case of BRAT1 mutation." Folia Neuropathologica 56, no. 4 (2018): 362–71. http://dx.doi.org/10.5114/fn.2018.80870.
Full textSmith, Nicholas J., Jill Lipsett, Leanne M. Dibbens, and Sarah E. Heron. "BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings." American Journal of Medical Genetics Part A 170, no. 11 (August 2, 2016): 3033–38. http://dx.doi.org/10.1002/ajmg.a.37853.
Full textFalcone, Grazia Maria Igea, Alessandra Tessa, Filippo Maria Santorelli, Graziana Tavilla, Antonio Toscano, and Olimpia Musumeci. "Adult onset cerebellar ataxia due to novel mutations in BRAT1." Journal of the Neurological Sciences 429 (October 2021): 118261. http://dx.doi.org/10.1016/j.jns.2021.118261.
Full textMundy, Sheraden A., Bryan L. Krock, Rong Mao, and Joseph J. Shen. "BRAT1-related disease-identification of a patient without early lethality." American Journal of Medical Genetics Part A 170, no. 3 (October 22, 2015): 699–702. http://dx.doi.org/10.1002/ajmg.a.37434.
Full textPutoux, Audrey, Nicolas Chatron, Anne-Sophie Eyraud-Rousselle, Audrey Labalme, Nathalie Streichenberger, David Meyronet, Julitta De-Regnauld-De-Bellescize, Damien Sanlaville, Patrick Edery, and Gaëtan Lesca. "Epileptic encephalopathy caused by BRAT1 mutations: Description of a novel patient." European Journal of Paediatric Neurology 21 (June 2017): e53-e54. http://dx.doi.org/10.1016/j.ejpn.2017.04.901.
Full textSaitsu, Hirotomo, Sumimasa Yamashita, Yukichi Tanaka, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, and Naomichi Matsumoto. "Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly." Journal of Human Genetics 59, no. 12 (October 16, 2014): 687–90. http://dx.doi.org/10.1038/jhg.2014.91.
Full textGrillo, Eugenio. "BRAT1 and TSEN54: Important Roles in Basic Cellular Processes and Similar Phenotypes." Pediatric Neurology 57 (April 2016): e1. http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.001.
Full textOatts, Julius T., Jacque L. Duncan, Creig S. Hoyt, Anne M. Slavotinek, and Anthony T. Moore. "Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1." Ophthalmic Genetics 38, no. 6 (March 2, 2017): 559–61. http://dx.doi.org/10.1080/13816810.2017.1290118.
Full textFernández-Jaén, Alberto, Sara Álvarez, Eui Young So, Toru Ouchi, Mar Jiménez de la Peña, Anna Duat, Daniel Martín Fernández-Mayoralas, Ana Laura Fernández-Perrone, Jacobo Albert, and Beatriz Calleja-Pérez. "Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient." European Journal of Paediatric Neurology 20, no. 3 (May 2016): 421–25. http://dx.doi.org/10.1016/j.ejpn.2016.02.009.
Full textCelik, Yalcin, Cetin Okuyaz, Ali Ertug Arslankoylu, and Serdar Ceylaner. "Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1." Epilepsy & Behavior Case Reports 8 (2017): 31–32. http://dx.doi.org/10.1016/j.ebcr.2017.05.003.
Full textStraussberg, Rachel, Esther Ganelin-Cohen, Hadassah Goldberg-Stern, Shay Tzur, Doron M. Behar, Pola Smirin-Yosef, Mali Salmon-Divon, and Lina Basel-Vanagaite. "Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation." European Journal of Paediatric Neurology 19, no. 2 (March 2015): 240–42. http://dx.doi.org/10.1016/j.ejpn.2014.11.004.
Full textMahmood, Asaad. "Bioinformatic analysis reveals possible response of the Arabidopsis acetylated histone-binding protein (BRAT1) against abiotic stresses." Journal of Garmian University 5, no. 2 (June 1, 2018): 349–63. http://dx.doi.org/10.24271/garmian.348.
Full textColak, Fatma Kurt, Naz Guleray, Ebru Azapagasi, Mutlu Uysal Yazıcı, Erhan Aksoy, and Nesrin Ceylan. "An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity." Acta Neurologica Belgica 120, no. 6 (October 10, 2020): 1425–32. http://dx.doi.org/10.1007/s13760-020-01513-0.
Full textWolf, Nicole, Mirjam van Weissenbruch, Cornelie Stam, Janneke Weiss, Quinten Waisfisz, Sietske Kevelam, Mariana Bugiani, Jiddeke van de Kamp, Marjo van der Knaap, and Laura van de Pol. "Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes." Neuropediatrics 46, no. 06 (November 4, 2015): 392–400. http://dx.doi.org/10.1055/s-0035-1564791.
Full textBelleville-Goffeney, Joanna, Thibaud Dabudyk, Norbert Khayat, Clélia Billon-Grand, and Cécilia Altuzarra. "Encéphalopathie épileptique précoce et hypertonie : aspect électro-clinique : à propos de 2 enfants présentant une mutation BRAT1." Neurophysiologie Clinique/Clinical Neurophysiology 47, no. 3 (June 2017): 191. http://dx.doi.org/10.1016/j.neucli.2017.05.016.
Full textKozaczewski, Jakub. "Tadeusz Kubiak i Anna Kamieńska: poetyckie spotkania z bratem Albertem." Zeszyty Naukowe KUL 61, no. 2 (October 12, 2020): 49–61. http://dx.doi.org/10.31743/zn.2018.61.2.49-61.
Full textGhasemi, Mohammad-Reza, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Morteza Sheikhi Nooshabadi, Sahar Alijanpour, Ali Mardi, and Mohammad Miryounesi. "Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review." Epilepsy & Behavior Reports 27 (2024): 100702. http://dx.doi.org/10.1016/j.ebr.2024.100702.
Full textOlszewska, Maria Jolanta. "Piękno Miłosierdzia. Dramaturgiczne wizerunki Brata Alberta." Zeszyty Naukowe KUL 61, no. 2 (October 12, 2020): 121–43. http://dx.doi.org/10.31743/zn.2018.61.2.121-143.
Full textNuovo, Sara, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, et al. "Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance." Human Mutation 43, no. 1 (November 15, 2021): 67–73. http://dx.doi.org/10.1002/humu.24293.
Full textMoraczewska, Barbara. "Sytuacja rodzinna i społeczna rodzeństwa pełnosprawnego mającego brata lub siostrę z niepełnosprawnością." Seminare. Poszukiwania naukowe 25 (March 3, 2023): 289–99. http://dx.doi.org/10.21852/sem.2008.25.22.
Full textKielak, Dorota. "Brat Albert w polskim pejzażu intelektualnym z początku XX wieku." Studia Bobolanum 29, no. 1 (September 1, 2021): 105–32. http://dx.doi.org/10.30439/sb.2018.1.6.
Full textŚlipko, Mariusz. "Postać Adama Chmielowskiego św. Brata Alberta w filmie "Brat naszego Boga" Krzysztofa Zanussiego." Studia Filmoznawcze 40 (June 27, 2019): 67–82. http://dx.doi.org/10.19195/0860-116x.40.7.
Full textContreras-Garrido, Adrián, Dario Galanti, Andrea Movilli, Claude Becker, Oliver Bossdorf, Hajk-Georg Drost, and Detlef Weigel. "Transposon dynamics in the emerging oilseed crop Thlaspi arvense." PLOS Genetics 20, no. 1 (January 31, 2024): e1011141. http://dx.doi.org/10.1371/journal.pgen.1011141.
Full textGłąb, Grzegorz. "Brat Albert i jego czasy w naszych czasach. Marek Sołtysik „Znak miłości. Opowieść o Adamie Chmielowskim – Świętym Bracie Albercie”." Zeszyty Naukowe KUL 61, no. 2 (October 12, 2020): 145–65. http://dx.doi.org/10.31743/zn.2018.61.2.145-165.
Full textLow, Ley-Hian, Yuh-Lit Chow, Yijia Li, Choo-Peng Goh, Ulrich Putz, John Silke, Toru Ouchi, Jason Howitt, and Seong-Seng Tan. "Nedd4 Family Interacting Protein 1 (Ndfip1) Is Required for Ubiquitination and Nuclear Trafficking of BRCA1-associated ATM Activator 1 (BRAT1) during the DNA Damage Response." Journal of Biological Chemistry 290, no. 11 (January 28, 2015): 7141–50. http://dx.doi.org/10.1074/jbc.m114.613687.
Full textVicente, José Salvador, Jesús Valdés-Hernández, and Francisco Marco-Jiménez. "Transcriptomic Signatures of the Foetal Liver and Late Prenatal Development in Vitrified Rabbit Embryos." Veterinary Sciences 11, no. 8 (August 1, 2024): 347. http://dx.doi.org/10.3390/vetsci11080347.
Full textNábělková, Mira. "I originally wanted to write the title Brethren, but I wrote Brotherhood... Jirásek brotherhood impressions." Journal of Linguistics/Jazykovedný casopis 72, no. 1 (June 1, 2021): 272–97. http://dx.doi.org/10.2478/jazcas-2021-0028.
Full textRadulović, Lidija, and Ildiko Erdei. "“Veliki brat vas gleda”/“Vi gledate Velikog brata”. Fenomen (nad)gledanja i imperativ gledanosti u rijaliti programu." Issues in Ethnology and Anthropology 12, no. 1 (March 31, 2017): 19. http://dx.doi.org/10.21301/eap.v12i1.1.
Full textLiao, Nien-Chieh, Yung-Luen Shih, Jiann-Shang Chou, Kuo-Wei Chen, Yung-Liang Chen, Mei-Hui Lee, Shu-Fen Peng, Sy-Jye Leu, and Jing-Gung Chung. "Cardamonin Induces Cell Cycle Arrest, Apoptosis and Alters Apoptosis Associated Gene Expression in WEHI-3 Mouse Leukemia Cells." American Journal of Chinese Medicine 47, no. 03 (January 2019): 635–56. http://dx.doi.org/10.1142/s0192415x19500332.
Full textEnder, Morten G. "Military Brats." Armed Forces & Society 32, no. 1 (October 2005): 24–43. http://dx.doi.org/10.1177/0095327x05277887.
Full textArnowitz, Jonathan, and Elizabeth Dykstra-Erickson. "Spoiled brats." Interactions 13, no. 4 (July 2006): 5–6. http://dx.doi.org/10.1145/1142169.1142173.
Full textAryawan, I. Wayan. "Penerapan Kepemimpinan Asta Brata dalam Pendidikan dari Sudut Pandang Teori Konflik." Jurnal Ilmiah Ilmu Sosial 7, no. 1 (June 18, 2021): 56. http://dx.doi.org/10.23887/jiis.v7i1.31628.
Full textSari, Rizki Rian. "Eksplorasi Nilai-Nilai Asthabrata Sebagai Pendidikan Antikorupsi." Social, Humanities, and Educational Studies (SHEs): Conference Series 5, no. 1 (January 3, 2022): 222. http://dx.doi.org/10.20961/shes.v5i1.57800.
Full textGunawan, Ketut. "THE INFLUENCE OF LEADERSHIP ON LPD GROWTH WITH CULTURE AS A CODING VARIABLE." Jurnal MEBIS (Manajemen dan Bisnis) 7, no. 2 (December 11, 2022): 173–81. http://dx.doi.org/10.33005/mebis.v7i1.370.
Full textNi Nyoman Sudiani, Adison Adrianus Sihombing, I Wayan Saklit, and Kadek Hemamalini. "THE IMPLEMENTATION OF BRATA ŚIVALATRI VALUES FOR HUMAN BEING IN THE COVID-19 ERA." Vidyottama Sanatana: International Journal of Hindu Science and Religious Studies 6, no. 2 (October 31, 2022): 235–45. http://dx.doi.org/10.25078/vidyottama.v6i2.932.
Full textTatsuya, Tanaka, and Sugiura Reiko. "新規抗がん剤候補化合物ACAGT-007aによる細胞死誘導におけるDNA損傷応答タンパク質BRAT1の役割." Proceedings for Annual Meeting of The Japanese Pharmacological Society 97 (2023): 2—B—SS12–6. http://dx.doi.org/10.1254/jpssuppl.97.0_2-b-ss12-6.
Full textBuber, Martin. "Bratr tělo (1914)." Theatralia, no. 2 (2021): 218–21. http://dx.doi.org/10.5817/ty2021-2-22.
Full textEdwards, John. "Christina Bratt Paulston." Journal of Multilingual and Multicultural Development 38, no. 1 (January 2, 2017): 1. http://dx.doi.org/10.1080/01434632.2016.1264216.
Full textGe, Chunmin, Lixiao Che, Jinyu Ren, Raj K. Pandita, Jing Lu, Kaiyi Li, Tej K. Pandita, and Chunying Du. "BRUCE regulates DNA double-strand break response by promoting USP8 deubiquitination of BRIT1." Proceedings of the National Academy of Sciences 112, no. 11 (March 2, 2015): E1210—E1219. http://dx.doi.org/10.1073/pnas.1418335112.
Full textTozer, Tiana. "The Brat." AJN, American Journal of Nursing 113, no. 12 (December 2013): 70. http://dx.doi.org/10.1097/01.naj.0000438880.13520.5a.
Full textNtaba, Dziwe. "BRAT Diet." Emergency Medicine News 26, no. 13 (January 2004): 27. http://dx.doi.org/10.1097/00132981-200401000-00021.
Full textSuyanto and Sunardi. "Relevansi Ajaran Hastha Brata dalam Pertunjukan Wayang Terhadap Kepemimpinan Zaman Sekarang." Panggung 34, no. 3 (September 1, 2024): 331–47. http://dx.doi.org/10.26742/panggung.v34i3.3557.
Full textNgurah Made Novianha Pynatih, I Putu Gelgel, and I Nengah Lestawi. "THE EFFECT OF ASTA BRATA LEADERSHIP ON JOB SATISFACTION IN VILLAGE CREDIT INSTITUTIONS (LPD) IN TABANAN REGENCY." Vidyottama Sanatana: International Journal of Hindu Science and Religious Studies 6, no. 2 (October 31, 2022): 287–301. http://dx.doi.org/10.25078/vidyottama.v6i2.1682.
Full textKoudahoun, Lucas Hervé, Jean Akande, Damien Kêgnidé Kolawolé Adjaï, Yélomè Judicaël Fernando Kpomahou, and Marc Delphin Monsia. "On the General Solution to the Bratu and Generalized Bratu Equations." Journal of Mathematics and Statistics 14, no. 1 (January 1, 2018): 193–200. http://dx.doi.org/10.3844/jmssp.2018.193.200.
Full textUtama, Hari Fitria. "Pandangan hidup Kejawen (Asta Brata) sebagai konsep kepemimpinan di era VUCA (Volatility, Uncertainty, Complexity, and Ambiguity)." Satwika : Kajian Ilmu Budaya dan Perubahan Sosial 7, no. 1 (April 13, 2023): 237–45. http://dx.doi.org/10.22219/satwika.v7i1.24056.
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