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EIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO
Názov EIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO Autor Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Spoluautori Hennig Friederike Shin Byung-Sik Turner Clesson E. Staníková Daniela 1984 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV ORCID Brennerová Katarína Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Fischer Ute Henden Lyndal Muller Ulrich Steinberger Daniela Leshinsky-Silver Esther Bottani Armand Kurdiová Timea SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Ukropec Jozef SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV SCOPUS RID ORCID Nyitrayova Olga Kolníková Miriam Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Borck Guntram Bahlo Melanie Haas Stefan A. Kim Joo-Ran Lotspeich-Cole Leda E. Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Dever Thomas E. Kalscheuer Vera M. Zdroj.dok. Human Mutation. Vol. 38, no. 4 (2017) p. 409-425 Jazyk dok. eng - angličtina Krajina US - Spojené štáty Druh dok. rozpis článkov z periodík (rbx) Ohlasy CNOP, Miriam - TOIVONEN, Sanna - LGOILLO-ESTEVE, Mariana - SAIPEA, Paraskevi. Endoplasmic reticulum stress and eIF2 alpha phosphorylation: The Achilles heel of pancreatic beta cells. In MOLECULAR METABOLISM. ISSN 2212-8778, 2017, vol. 6, no. 9, pp. 1024-1039. MOON, Stephanie L. - PARKER, Roy. Analysis of eIF2B bodies and their relationships with stress granules and P-bodies. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2018, vol. 8, no., pp. TAHMASEBI, Soroush - KHOUTORSKY, Arkady - MATHEWS, Michael B. - SONENBERG, Nahum. Translation deregulation in human disease. In NATURE REVIEWS MOLECULAR CELL BIOLOGY. ISSN 1471-0072, 2018, vol. 19, no. 12, pp. 791-807. PAVITT, Graham D. Regulation of translation initiation factor eIF2B at the hub of the integrated stress response. In WILEY INTERDISCIPLINARY REVIEWS-RNA. ISSN 1757-7004, 2018, vol. 9, no. 6, pp. MOON, Stephanie L. - SONENBERG, Nahum - PARKER, Roy. Neuronal Regulation of eIF2 alpha Function in Health and Neurological Disorders. In TRENDS IN MOLECULAR MEDICINE. ISSN 1471-4914, 2018, vol. 24, no. 6, pp. 575-589. YU, Shan - CHEN, Constance - PAN, Yue - KURZ, Michael C. - DATNER, Elizabeth - HENDRY, Phyllis L. - VELILLA, Marc-Anthony - LEWANDOWSKI, Christopher - PEARSON, Claire - DOMEIER, Robert - MCLEAN, Samuel A. - LINNSTAEDT, Sarah D. Genes known to escape X chromosome inactivation predict co-morbid chronic musculoskeletal pain and posttraumatic stress symptom development in women following trauma exposure. In AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. ISSN 1552-4841, 2019, vol. 180, no. 6, pp. 415-427. SCHMITT, Emmanuelle - COUREUX, Pierre-Damien - MONESTIER, Auriane - DUBIEZ, Etienne - MECHULAM, Yves. Start Codon Recognition in Eukaryotic and Archaeal Translation Initiation: A Common Structural Core. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. ISSN 1422-0067, 2019, vol. 20, no. 4, pp. GREGORY, Louise C. - FERREIRA, Carolina B. - YOUNG-BAIRD, Sara K. - WILLIAMS, Hywel J. - HARAKALOVA, Magdalena - VAN HAAFTEN, Gijs - RAHMAN, Sofia A. - GASTON-MASSUET, Carles - KELBERMAN, Daniel - GOSGENE - QASIM, Waseem - CAMPER, Sally A. - DEVER, Thomas E. - SHAH, Pratik - ROBINSON, Iain C. A. F. - DATTANI, Mehul T. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. In EBIOMEDICINE. ISSN 2352-3964, 2019, vol. 42, no., pp. 470-480. MAGHNIE, Mohamad - BARBETTI, Fabrizio. MEHMO syndrome and the link between brain, pituitary and pancreas. In EBIOMEDICINE. ISSN 2352-3964, 2019, vol. 42, no., pp. 26-27. DE FRANCO, Elisa. From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes. In JOURNAL OF MOLECULAR BIOLOGY. ISSN 0022-2836, 2020, vol. 432, no. 5, pp. 1535-1550. GREGORY, Louise Cheryl - DATTANI, Mehul Tulsidas. The Molecular Basis of Congenital Hypopituitarism and Related Disorders. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, 2020, vol. 105, no. 6, pp. E2103-E2120. COSTA-MATTIOLI, Mauro - WALTER, Peter. The integrated stress response: From mechanism to disease. In SCIENCE. ISSN 0036-8075, 2020, vol. 368, no. 6489, pp. 384-+. EIZIRIK, Decio L. - PASQUALI, Lorenzo - CNOP, Miriam. Pancreatic beta-cells in type 1 and type 2 diabetes mellitus: different pathways to failure. In NATURE REVIEWS ENDOCRINOLOGY. ISSN 1759-5029, 2020, vol. 16, no. 7, pp. 349-362. 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Sex differences in neuro(auto)immunity and chronic sciatic nerve pain. In BIOLOGY OF SEX DIFFERENCES. NOV 12 2020, vol. 11, no. 1. SONG, X.W. - ZHONG, Q.S. - PENG, G.F. - JI, Y.H. - ZHANG, Y.M. - TANG, J. - XIE, J. - BI, J.X. - FENG, F. - LI, B. Functional characterization of a special dicistronic transcription unit encoding histone methyltransferase su(var)3-9 and translation regulator eIF2 gamma in Tribolium castaneum. In BIOCHEMICAL JOURNAL. ISSN 0264-6021, AUG 2020, vol. 477, no. 16, p. 3059-3074. GREGORY, L.C. - DATTANI, M.T. The Molecular Basis of Congenital Hypopituitarism and Related Disorders. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, JUN 2020, vol. 105, no. 6, p. E2103-E2120. EIZIRIK, D.L. - PASQUALI, L. - CNOP, M. Pancreatic beta-cells in type 1 and type 2 diabetes mellitus: different pathways to failure. In NATURE REVIEWS ENDOCRINOLOGY. ISSN 1759-5029, JUL 2020, vol. 16, no. 7, p. 349-362. COSTA-MATTIOLI, M. - WALTER, P. The integrated stress response: From mechanism to disease. In SCIENCE. ISSN 0036-8075, APR 24 2020, vol. 368, no. 6489, p. 384-+. DE FRANCO, E. From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes. In JOURNAL OF MOLECULAR BIOLOGY. ISSN 0022-2836, MAR 6 2020, vol. 432, no. 5, SI, p. 1535-1550. DE FRANCO, E. - CASWELL, R. - JOHNSON, M.B. - WAKELING, M.N. - ZUNG, A. - DUNG, V.C. - NGOC, C.T.B. - GOONETILLEKE, R. - JURY, M.V. - EL-KHATEEB, M. - ELLARD, S. - FLANAGAN, S.E. - RON, D. - HATTERSLEY, A.T. De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction. In DIABETES. ISSN 0012-1797, MAR 2020, vol. 69, no. 3, p. 477-483. SALPEA, P. - COSENTINO, C. - IGOILLO-ESTEVE, M. A Review of Mouse Models of Monogenic Diabetes and ER Stress Signaling. In ANIMAL MODELS OF DIABETES: Methods and Protocols. ISSN 1064-3745, 2020, vol. 2128, p. 55-67. MARCINIAK, S.J. - CHAMBERS, J.E. - RON, D. Pharmacological targeting of endoplasmic reticulum stress in disease. In NATURE REVIEWS DRUG DISCOVERY. ISSN 1474-1776, FEB 2022, vol. 21, no. 2, p. 115-140. ENGLISH, A.M. - GREEN, K.M. - MOON, S.L. A (dis)integrated stress response: Genetic diseases of eIF2 alpha regulators. In WILEY INTERDISCIPLINARY REVIEWS-RNA. ISSN 1757-7004. LU, J.L. - CHEN, S.Y. - TAN, H. - HUANG, Z.Q. - LI, B. - LIU, L. - CHEN, Y.M. - ZENG, X.Z. - ZOU, Y.W. - XU, L.H. Eukaryotic initiation factor-2, gamma subunit, suppresses proliferation and regulates the cell cycle via the MAPK/ERK signaling pathway in acute myeloid leukemia. In JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY. ISSN 0171-5216, NOV 2021, vol. 147, no. 11, p. 3157-3168. MOORTGAT, S. - MANFROID, I. - PENDEVILLE, H. - FREEMAN, S. - BOURDOUXHE, J. - BENOIT, V. - MERHI, A. - PHILIPPE, C. - FAIVRE, L. - MAYSTADT, I. Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants. 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IVANOVA, N. - SERZHANOVA, V. - DEMINA, N. - GUSEVA, D. - SKOBLOV, M. mRNA analysis revealed a novel pathogenic iEIF2S3/i variant causing MEHMO syndrome. In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, FEB 2022, vol. 65, no. 2. Dostupné na: https://doi.org/10.1016/j.ejmg.2022.104421. LI, W.Q. - LI, N. - ZHANG, M.F. - ARISHA, A.H. - HUA, J.L. The Role of iEif2s3y/i in Mouse Spermatogenesis and ESC. In CURRENT STEM CELL RESEARCH & THERAPY. ISSN 1574-888X, 2022, vol. 17, no. 8, p. 750-755. Dostupné na: https://doi.org/10.2174/1574888X16666211102091513. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2017 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1002/humu.23170 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence EIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO.pdf Neprístupný/archív 2.2 MB 3 Autorský preprint rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2017 2016 4.601 Q1 3.231 Q1
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