1 | EIF2AK3, WRS
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| Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.
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| Al-Aama JY, Al-Zahrani HS, Jelani M, Sabir HS, Al-Saeedi SA, Ahmed S.
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| Congenit Anom (Kyoto) ongenit Anom (Kyoto). 2017 Feb 21. doi: 10.1111/cga.12217. [Epub ahead of print] No abstract available.
2017
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2 | EIF2AK3, WRS
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| A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.
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| Liu J, Hoppman N, O'Connell JR, Wang H, Streeten EA, McLenithan JC, Mitchell BD, Shuldiner AR.
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| J Bone Miner Res 27(2):331-41. 2012
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3 | EIF2AK3, IER3IP1, MEDS, WRS
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| A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
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| Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG.
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| Am J Med Genet A 158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18.
2012
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4 | EIF2AK3, WRS
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| A novel EIF2AK3 mutation leading to Wolcott-Rallison syndrome in a Chinese child.
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| Sang Y, Liu M, Yang W, Yan J, Chengzhu, Ni G.
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| J Pediatr Endocrinol Metab 24(3-4):181-4.
2011
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5 | WRS, EIF2AK3, SLC19A2, TRMA, FRDA, FXN, ABCC8
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| Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
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| Porter JR, Barrett TG.
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| J Med Genet 42(12):893-902. Epub 2005 Mar 16. 2005
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6 | WRS, EIF2AK3
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| Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
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| Senee V, Vattem KM, Delepine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C.
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| Diabetes 53(7):1876-83. 2004
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7 | WRS, EIF2AK3
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| Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.
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| Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG.
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| Acta Paediatr 93(9):1195-201. Review. 2004
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8 | EIF2AK3, WRS
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| Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.
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| Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA.
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| J Med Genet 40(9):685-9. Review. No abstract available. 2003
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9 | EIF2AK3, WRS
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| Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.
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| Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ.
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| Diabetes 51(7):2301-5. 2002
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10 | EIF2AK3, WRS
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| EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.
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| Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C.
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| Nat Genet 25(4):406-9. 2000
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