{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:24:33Z","timestamp":1791476673031,"version":"4.3.4"},"reference-count":12,"publisher":"Galenos Yayinevi","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Jcrpe"],"DOI":"10.4274\/jcrpe.galenos.2020.2020.0265","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T06:47:03Z","timestamp":1610693223000},"page":"227-232","source":"Crossref","is-referenced-by-count":17,"title":["TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys"],"prefix":"10.4274","volume":"14","author":[{"given":"Eve","family":"Stern","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asaf","family":"Vivante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Levy-Shraga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2811","published-online":{"date-parts":[[2022,6,7]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"1826","DOI":"10.1210\/jc.2016-2490","article-title":"3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012","volume":"102","author":"Delvecchio","year":"2017","unstructured":"1. Delvecchio M, Mozzillo E, Salzano G, Iafusco D, Frontino G, Patera PI, Rabbone I, Cherubini V, Grasso V, Tinto N, Giglio S, Contreas G, Di Paola R, Salina A, Cauvin V, Tumini S, d'Annunzio G, Iughetti L, Mantovani V, Maltoni G, Toni S, Marigliano M, Barbetti F; Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED). Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012. J Clin Endocrinol Metab 2017;102:1826-1834.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"2. Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, Mallam K, Moudiotis C, Smith R, Fraser B, Robertson S, Greene S, Ellard S, Pearson ER, Hattersley AT; UNITED Team. Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. Diabetes Care 2016;39:1879-1888. Epub 2016 Jun 6","DOI":"10.2337\/dc16-0645"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"3. Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Nj\u00f8lstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2018;19(Suppl 27):47-63.","DOI":"10.1111\/pedi.12772"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"4. Igoillo-Esteve M, Genin A, Lambert N, D\u00e9sir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M. tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genet 2013;9:e1003888. Epub 2013 Oct 31","DOI":"10.1371\/journal.pgen.1003888"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"5. Gillis D, Krishnamohan A, Yaacov B, Shaag A, Jackman JE, Elpeleg O. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet 2014;51:581-586. Epub 2014 Jul 22","DOI":"10.1136\/jmedgenet-2014-102282"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"912","DOI":"10.12688\/f1000research.7106.1","article-title":"Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities","volume":"4","author":"Narayanan","year":"2015","unstructured":"6. Narayanan M, Ramsey K, Grebe T, Schrauwen I, Szelinger S, Huentelman M, Craig D, Narayanan V; C4RCD Research Group. Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. F1000Res 2015;4:912.","journal-title":"F1000Res"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1111\/dme.13024","article-title":"tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy","volume":"33","author":"Yew","year":"2016","unstructured":"7. Yew TW, McCreight L, Colclough K, Ellard S, Pearson ER. tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabet Med 2016;33:21-25.","journal-title":"Diabet Med"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"8. Zung A, Kori M, Burundukov E, Ben-Yosef T, Tatoor Y, Granot E. Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus. Am J Med Genet A 2015;167:3167-3173. Epub 2015 Aug 22","DOI":"10.1002\/ajmg.a.37341"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"9. Lin H, Zhou X, Chen X, Huang K, Wu W, Fu J, Li Y, Polychronakos C, Dong GP. tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly. BMJ Open Diabetes Res Care 2020;8:e001601.","DOI":"10.1136\/bmjdrc-2020-001601"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"10302","DOI":"10.1093\/nar\/gky839","article-title":"Pancreatic \u03b2-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes","volume":"46","author":"Cosentino","year":"2018","unstructured":"10. Cosentino C, Toivonen S, Diaz Villamil E, Atta M, Ravanat JL, Demine S, Schiavo AA, Pachera N, Deglasse JP, Jonas JC, Balboa D, Otonkoski T, Pearson ER, Marchetti P, Eizirik DL, Cnop M, Igoillo-Esteve M. Pancreatic \u03b2-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes. Nucleic Acids Res 2018;46:10302-10318.","journal-title":"Nucleic Acids Res"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1261\/rna.5070303","article-title":"Identification of the yeast gene encoding the tRNA m1G methyltransferase responsible for modification at position 9","volume":"9","author":"Jackman","year":"2003","unstructured":"11. Jackman JE, Montange RK, Malik HS, Phizicky EM. Identification of the yeast gene encoding the tRNA m1G methyltransferase responsible for modification at position 9. RNA 2003;9:574-585.","journal-title":"RNA"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"6157","DOI":"10.1093\/nar\/gkaa353","article-title":"Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B","volume":"48","author":"Vilardo","year":"2020","unstructured":"12. Vilardo E, Amman F, Toth U, Kotter A, Helm M, Rossmanith W. Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B. Nucleic Acids Res 2020;48:6157-6169.","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Clinical Research in Pediatric Endocrinology"],"original-title":[],"deposited":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T13:01:35Z","timestamp":1721998895000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcrpe.org\/jvi.aspx?un=JCRPE-00710"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,7]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,6,7]]}},"URL":"https:\/\/doi.org\/10.4274\/jcrpe.galenos.2020.2020.0265","relation":{},"ISSN":["1308-5727","1308-5735"],"issn-type":[{"value":"1308-5727","type":"print"},{"value":"1308-5735","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,7]]}}}