Počet záznamov: 1
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome
Názov Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome Autor Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Spoluautori Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Staníková Daniela 1984 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV ORCID Brennerová Katarína Barák L. Tichá Ľ. Hornová J. Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Zdroj.dok. Physiological Research. Vol. 67, no. 2 (2018), p. 331-337 Jazyk dok. eng - angličtina Krajina CZ - Česká republika URL URL link Druh dok. rozpis článkov z periodík (rbx) Ohlasy YOUNG-BAIRD, Sara K. - SHIN, Byung-Sik - DEVER, Thomas E. MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNA(i)(Met) binding to eukaryotic translation initiation factor eIF2. In NUCLEIC ACIDS RESEARCH. ISSN 0305-1048, 2019, vol. 47, no. 2, pp. 855-867. 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. 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-+. DE FRANCO, Elisa - LYTRIVI, Maria - IBRAHIM, Hazem - MONTASER, Hossam - WAKELING, Matthew N. - FANTUZZI, Federica - PATEL, Kashyap - DEMAREZ, Celine - CAI, Ying - IGOILLO-ESTEVE, Mariana - COSENTINO, Cristina - LITHOVIUS, Vaino - VIHINEN, Helena - JOKITALO, Eija - LAVER, Thomas W. - JOHNSON, Matthew B. - SAWATANI, Toshiaki - SHAKERI, Hadis - PACHERA, Nathalie - HALILOGLU, Belma - OZBEK, Mehmet Nuri - UNAL, Edip - YILDIRIM, Ruken - GODBOLE, Tushar - YILDIZ, Melek - AYDIN, Banu - BILHEU, Angeline - SUZUKI, Ikuo - FLANAGAN, Sarah E. - VANDERHAEGHEN, Pierre - SENEE, Valerie - JULIER, Cecile - MARCHETTI, Piero - EIZIRIK, Decio L. - ELLARD, Sian - SAARIMAKI-VIRE, Jonna - OTONKOSKI, Timo - CNOP, Miriam - HATTERSLEY, Andrew T. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. In JOURNAL OF CLINICAL INVESTIGATION. ISSN 0021-9738, 2020, vol. 130, no. 12, pp. 6338-6353. KOTZAERIDOU, Urania - YOUNG-BAIRD, Sara K. - SUCKOW, Vanessa - THORNBURG, Alexis G. - WAGNER, Matias - HARTING, Inga - CHRIST, Stine - STROM, Tim - DEVER, Thomas E. - KALSCHEUER, Vera M. Novel pathogenicEIF2S3missense variants causing clinically variableMEHMOsyndrome with impairedeIF2 gamma translational function, and literature review. In CLINICAL GENETICS. ISSN 0009-9163, 2020, vol. 98, no. 5, pp. 507-514. STONE, Stephen - ABREU, Damien - MCGILL, Janet B. - URANO, Fumihiko. Monogenic and syndromic diabetes due to endoplasmic reticulum stress. In JOURNAL OF DIABETES AND ITS COMPLICATIONS. ISSN 1056-8727, 2021, vol. 35, no. 1, pp. MORI, M. - KUMADA, T. - INOUE, K. - NOZAKI, F. - MATSUI, K. - MARUO, Y. - YAMADA, M. - SUZUKI, H. - KOSAKI, K. - SHIBATA, M. Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis. In BRAIN & DEVELOPMENT. ISSN 0387-7604, JUN 2021, vol. 43, no. 6, p. 724-728. 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. In HUMAN MUTATION. ISSN 1059-7794, JUL 2021, vol. 42, no. 7, p. 827-834. 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. YGBERG, S. - LINDSTRAND, A. Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome. In CLINICAL CASE REPORTS. ISSN 2050-0904, JUN 2022, vol. 10, no. 6. Dostupné na: https://doi.org/10.1002/ccr3.5989. WANG, X.M. - PROUD, C.G. The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors. In BIOCHEMICAL JOURNAL. ISSN 0264-6021, MAY 2022, vol. 479, no. 10, p. 1059-1082. Dostupné na: https://doi.org/10.1042/BCJ20220068. BARBETTI, F. - RAPINI, N. - SCHIAFFINI, R. - BIZZARRI, C. - CIANFARANI, S. The application of precision medicine in monogenic diabetes. In EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM. ISSN 1744-6651, MAR 4 2022, vol. 17, no. 2, p. 111-129. Dostupné na: https://doi.org/10.1080/17446651.2022.2035216. 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. OCANSEY, S. - PULLEN, D. - ATKINSON, P. - CLARKE, A. - HADONOU, M. - CROSBY, C. - SHORT, J. - LLOYD, I.C. - SMEDLEY, D. - ASSUNTA, A. - SHAH, P. - MCENTAGART, M. Biallelic iDNAJC3/i variants in a neuroendocrine developmental disorder with insulin dysregulation. In CLINICAL DYSMORPHOLOGY. ISSN 0962-8827, JAN 2022, vol. 31, no. 1, p. 11-17. Dostupné na: https://doi.org/10.1097/MCD.0000000000000397. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2018 Registrované v WOS Registrované v SCOPUS Registrované v CCC 
článok
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) 2018 2017 1.324 Q4 0.568 Q2
Počet záznamov: 1