PubMed

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. 2002 Jul;51(7):2301-5.PMID: 12086964 [PubMed - indexed for MEDLINE]Related articlesFree article

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

Senée V, Vattem KM, Delépine 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. 2004 Jul;53(7):1876-83.PMID: 15220213 [PubMed - indexed for MEDLINE]Related articlesFree article

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

Delépine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C.

Nat Genet. 2000 Aug;25(4):406-9.PMID: 10932183 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

Durocher F, Faure R, Labrie Y, Pelletier L, Bouchard I, Laframboise R.

Clin Genet. 2006 Jul;70(1):34-8.PMID: 16813601 [PubMed - indexed for MEDLINE]Related articles

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. 2004 Sep;93(9):1195-201. Review.PMID: 15384883 [PubMed - indexed for MEDLINE]Related articles

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.

Søvik O, Njølstad PR, Jellum E, Molven A.

J Inherit Metab Dis. 2008 May 20. [Epub ahead of print]PMID: 18500571 [PubMed - as supplied by publisher]Related articles

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. 2003 Sep;40(9):685-9. Review. No abstract available. PMID: 12960215 [PubMed - indexed for MEDLINE]Related articlesFree article

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.

Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, Buchanan CR.

J Inherit Metab Dis. 2008 Aug;31(4):540-6. Epub 2008 Aug 16.PMID: 18704764 [PubMed - indexed for MEDLINE]Related articles

Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome.

Taha D.

Ann Saudi Med. 2005 Jul-Aug;25(4):350; author reply 350. No abstract available. PMID: 16212134 [PubMed - indexed for MEDLINE]Related articlesFree article

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. Epub 2009 Oct 16.PMID: 19837917 [PubMed - in process]Related articlesFree article

The EIF2AK3 gene region and type I diabetes in subjects from South India.

Allotey RA, Mohan V, McDermott MF, Deepa R, Premalatha G, Hassan Z, Cassell PG, North BV, Vaxillaire M, Mein CA, Swan DC, O'Grady E, Ramachandran A, Snehalatha C, Sinnot PJ, Hemmatpour SK, Froguel P, Hitman GA.

Genes Immun. 2004 Dec;5(8):648-52.PMID: 15483661 [PubMed - indexed for MEDLINE]Related articles

Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.

Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI.

J Med Genet. 1998 Apr;35(4):288-92.PMID: 9598721 [PubMed - indexed for MEDLINE]Related articlesFree article

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

de Wit MC, de Coo IF, Julier C, Delépine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM.

Neurogenetics. 2006 Nov;7(4):259-63. Epub 2006 Sep 14.PMID: 16972080 [PubMed - indexed for MEDLINE]Related articles

Autopsy findings in the Wolcott-Rallison syndrome.

Thornton CM, Carson DJ, Stewart FJ.

Pediatr Pathol Lab Med. 1997 May-Jun;17(3):487-96.PMID: 9185226 [PubMed - indexed for MEDLINE]Related articles

The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas.

Zhang P, McGrath B, Li S, Frank A, Zambito F, Reinert J, Gannon M, Ma K, McNaughton K, Cavener DR.

Mol Cell Biol. 2002 Jun;22(11):3864-74.PMID: 11997520 [PubMed - indexed for MEDLINE]Related articlesFree article

[Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation]

Qiu ZQ, Wei M, Liu G, Liu GY.

Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):252-5. Chinese. PMID: 14754525 [PubMed - indexed for MEDLINE]Related articles

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.

Stewart FJ, Carson DJ, Thomas PS, Humphreys M, Thornton C, Nevin NC.

Clin Genet. 1996 Mar;49(3):152-5.PMID: 8737981 [PubMed - indexed for MEDLINE]Related articles

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C.

Diabetologia. 2004 Dec;47(12):2160-7. Epub 2004 Dec 8.PMID: 15592663 [PubMed - indexed for MEDLINE]Related articles

No evidence for diabetes-associated mutations of PEK/EIF2AK3 gene in French patients with early-onset type II diabetes.

Vaxillaire M, Benmezroua Y, Durand E, Vasseur F, Froguel P.

Diabetologia. 2001 Jun;44(6):786. No abstract available. PMID: 11440376 [PubMed - indexed for MEDLINE]Related articles

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR, Sagen JV, Bjørkhaug L, Odili S, Shehadeh N, Bakry D, Sarici SU, Alpay F, Molnes J, Molven A, Søvik O, Matschinsky FM.

Diabetes. 2003 Nov;52(11):2854-60.PMID: 14578306 [PubMed - indexed for MEDLINE]Related articlesFree article