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