Wolcott CD, Rallison MV: Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr. 1972, 80: 292-297. 10.1016/S0022-3476(72)80596-1.
Article
CAS
PubMed
Google Scholar
Senee V, Vattem KM, Delepine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C: Wolcott-Rallison Syndrome: Clinical, Genetic, and Functional Study of EIF2AK3 Mutations and Suggestion of Genetic Heterogeneity. Diabetes. 2004, 53: 1876-1883. 10.2337/diabetes.53.7.1876.
Article
CAS
PubMed
Google Scholar
Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK: Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatric Diabetes. 2010, 11: 279-285. 10.1111/j.1399-5448.2009.00591.x.
Article
CAS
PubMed
Google Scholar
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG: Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab. 2009, 94: 4162-4170. 10.1210/jc.2009-1137.
Article
PubMed Central
CAS
PubMed
Google Scholar
Al-Gazali LI, Makia S, Hall CM: Wolcott-Rallison syndrome. Clinical Dysmorphology. 1995, 4: 227-233. 10.1097/00019605-199507000-00006.
Article
CAS
PubMed
Google Scholar
Goumy P, Maroteaux P, Stanescu V, Stanescu R, Labbe A, Menut G: Syndrome de transmission recessive autosomique, associant un diabete congenital et des desoirdres de la croissances des epiphyses. Arch Fr Pediatr. 1980, 37: 323-328.
CAS
PubMed
Google Scholar
Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG: Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr. 2004, 93: 1195-1201. 10.1111/j.1651-2227.2004.tb02748.x.
Article
CAS
PubMed
Google Scholar
Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA: Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. J Med Genet. 2003, 40: 685-689. 10.1136/jmg.40.9.685.
Article
PubMed Central
CAS
PubMed
Google Scholar
Castelnau P, Le Merrer M, Diatloff-Zito C, Marquis E, Tete MJ, Robert JJ: Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy. Eur J Pediatr. 2000, 159: 631-613. 10.1007/PL00008394.
Article
CAS
PubMed
Google Scholar
Bin-Abbas B, Al-Mulhim A, Al-Ashwal A: Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism. Am J Med Genet. 2002, 111: 187-190. 10.1002/ajmg.10495.
Article
PubMed
Google Scholar
de Wit MC, de Coo IF, Julier C, Delepine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM: Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. Neurogenetics. 2006, 7: 259-263. 10.1007/s10048-006-0061-1.
Article
CAS
PubMed
Google Scholar
Amos AF, McCarty DJ, Zimmet P: The rising global burden of diabetes and its complications: estimates and projections to the year 2010. Diabet Med. 1997, 14: S1-85. 10.1002/(SICI)1096-9136(199712)14:5+<S7::AID-DIA522>3.3.CO;2-I.
Article
PubMed
Google Scholar
Adler SM, Wartofsky L: The nonthyroidal illness syndrome. Endocrinol Metab Clin North Am. 2007, 36: 657-672. 10.1016/j.ecl.2007.04.007.
Article
CAS
PubMed
Google Scholar
Thornton CM, Carson DJ, Stewart FJ: Autopsy findings in the Wolcott-Rallison syndrome. Pediatr Pathol Lab Med. 1997, 17: 487-496. 10.1080/107710497174778.
Article
CAS
PubMed
Google Scholar
Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C: EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet. 2000, 25: 406-409. 10.1038/78085.
Article
CAS
PubMed
Google Scholar
Wek RC, Cavener DR: Translational control and the unfolded protein response. Antioxid Redox Signal. 2007, 9: 2357-2371. 10.1089/ars.2007.1764.
Article
CAS
PubMed
Google Scholar
Eizirik DL, Cardozo AK, Cnop M: The role for endoplasmic reticulum stress in diabetes mellitus. Endocr Rev. 2008, 29: 42-61. 10.1210/er.2007-0015.
Article
CAS
PubMed
Google Scholar
Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C: Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet. 2005, 14: 1-5. 10.1093/hmg/ddi001.
Article
CAS
PubMed
Google Scholar
Eiken M, Prag J, Petersen K, Kaufmann H: - A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur J Pediatr. 1984, 141: 231-235. 10.1007/BF00572767.
Article
CAS
PubMed
Google Scholar
Harding HP, Zeng H, Zhang Y, Jungries R, Chung P, Plesken H, Sabatini DD, Ron D: Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival. Mol Cell. 2001, 7: 1153-1163. 10.1016/S1097-2765(01)00264-7.
Article
CAS
PubMed
Google Scholar
Zhang P, McGrath B, Li S, Frank A, Zambito F, Reinert J, Gannon M, Ma K, McNaughton K, Cavener DR: 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. Mol Cell Biol. 2002, 22: 3864-3874. 10.1128/MCB.22.11.3864-3874.2002.
Article
PubMed Central
CAS
PubMed
Google Scholar
Zhang W, Feng D, Li Y, Iida K, McGrath B, Cavener DR: PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis. Cell Metab. 2006, 4: 491-497. 10.1016/j.cmet.2006.11.002.
Article
CAS
PubMed
Google Scholar
Iida K, Li Y, McGrath BC, Frank A, Cavener DR: PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice. BMC Cell Biol. 2007, 8: 38-10.1186/1471-2121-8-38.
Article
PubMed Central
PubMed
Google Scholar
Wei J, Sheng X, Feng D, McGrath B, Cavener DR: PERK is essential for neonatal skeletal development to regulate osteoblast proliferation and differentiation. J Cell Physiol. 2008, 217: 693-707. 10.1002/jcp.21543.
Article
CAS
PubMed
Google Scholar
Li Y, Iida K, O'Neil J, Zhang P, Li S, Frank A, Gabai A, Zambito F, Liang SH, Rosen CJ, Cavener DR: PERK eIF2alpha kinase regulates neonatal growth by controlling the expression of circulating insulin-like growth factor-I derived from the liver. Endocrinology. 2003, 144: 3505-3513. 10.1210/en.2003-0236.
Article
CAS
PubMed
Google Scholar
Harding HP, Ron D: Endoplasmic reticulum stress and the development of diabetes: a review. Diabetes. 2002, 51: S455-461. 10.2337/diabetes.51.2007.S455.
Article
CAS
PubMed
Google Scholar
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P: A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998, 20: 143-148. 10.1038/2441.
Article
CAS
PubMed
Google Scholar
Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM: Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA. 2007, 104: 15040-15044. 10.1073/pnas.0707291104.
Article
PubMed Central
PubMed
Google Scholar
Fonseca SG, Burcin M, Gromada J, Urano F: Endoplasmic reticulum stress in beta-cells and development of diabetes. Curr Opin Pharmacol. 2009, 9: 763-770. 10.1016/j.coph.2009.07.003.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kim I, Xu W, Reed JC: Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities. Nat Rev Drug Discov. 2008, 7: 1013-1030. 10.1038/nrd2755.
Article
CAS
PubMed
Google Scholar
Hotamisligil GS: Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease. Cell. 2010, 140: 900-917. 10.1016/j.cell.2010.02.034.
Article
PubMed Central
CAS
PubMed
Google Scholar
Feng D, Wei J, Gupta S, McGrath BC, Cavener DR: Acute ablation of PERK results in ER dysfunctions followed by reduced insulin secretion and cell proliferation. BMC Cell Biol. 2009, 10: 61-10.1186/1471-2121-10-61.
Article
PubMed Central
PubMed
Google Scholar
Gupta S, McGrath B, Cavener DR: PERK (EIF2AK3) Regulates Proinsulin Trafficking and Quality Control in the Secretory Pathway. Diabetes. 2010, 59: 1937-1947. 10.2337/db09-1064.
Article
PubMed Central
CAS
PubMed
Google Scholar
Goumy P, Maroteaux P, Stanescu V, Stanescu R, Labbe A, Menut G: [A syndrome of congenital diabetes with disordered epiphyseal growth with autosomal recessive inheritance (author's transl)]. Arch Fr Pediatr. 1980, 37: 323-328.
CAS
PubMed
Google Scholar
Stoss H, Pesch H-J, Pontz B, Otten A, Spranger J: Wolcott-Rallison syndrome: diabetes mellitus and spondylo-epiphyseal dysplasia. Eur J Pediatr. 1982, 138: 120-129. 10.1007/BF00441137.
Article
CAS
PubMed
Google Scholar
Nicolino PM, Dupin H, Macabeo V, Treppoz S, Chatelain PG: Wolcott-Rallison syndrome (diabetes mellitus and spondyloepiphyseal dysplasia): a plausible existence of a gene(s) important for the maturation of neonatal pancreatic beta cell function. Hormone Research. 1998, 50: A215-
Google Scholar
Iafusco D, Stazi MA, Cotichini R, Cotellessa M, Martinucci ME, Mazzella M, Cherubini V, Barbetti F, Martinetti M, Cerutti F, Prisco F: Permanent diabetes mellitus in the first year of life. Diabetologia. 2002, 45: 798-804. 10.1007/s00125-002-0837-2.
Article
CAS
PubMed
Google Scholar
Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM: HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes. 2006, 55: 1895-1898. 10.2337/db06-0094.
Article
CAS
PubMed
Google Scholar
Stoffers DA, Ferrer J, Clarke WL, Habener JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet. 1997, 17: 138-139. 10.1038/ng1097-138.
Article
CAS
PubMed
Google Scholar
Nicolino M, Clairborn K, Senée V, Boland A, Stoffers D, Julier C: A novel hypomorphic PDX1 mutation responsible for Permanent Neonatal Diabetes with subclinical exocrine deficiency. Diabetes. 2009, 59: 733-740. 10.2337/db09-1284.
Article
PubMed Central
PubMed
Google Scholar
Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK: Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet. 2004, 36: 1301-1305. 10.1038/ng1475.
Article
CAS
PubMed
Google Scholar
Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR: Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006, 38: 682-687. 10.1038/ng1802.
Article
CAS
PubMed
Google Scholar
Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet. 2001, 27: 18-20. 10.1038/83707.
Article
CAS
PubMed
Google Scholar
Cunha DA, Ladriere L, Ortis F, Igoillo-Esteve M, Gurzov EN, Lupi R, Marchetti P, Eizirik DL, Cnop M: Glucagon-Like Peptide-1 Agonists Protect Pancreatic -Cells From Lipotoxic Endoplasmic Reticulum Stress Through Upregulation of BiP and JunB. Diabetes. 2009, 58: 2851-2862. 10.2337/db09-0685.
Article
PubMed Central
CAS
PubMed
Google Scholar
Akiyama M, Hatanaka M, Ohta Y, Ueda K, Yanai A, Uehara Y, Tanabe K, Tsuru M, Miyazaki M, Saeki S: Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice. Diabetologia. 2009, 52: 653-663. 10.1007/s00125-009-1270-6.
Article
CAS
PubMed
Google Scholar