Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families-Reference-Cited by-同舟云学术

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

Published:2009-11-01 Issue:11 Volume:94 Page:4162-4170
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Rubio-Cabezas Oscar¹²,Patch Ann-Marie¹,Minton Jayne A. L.¹,Flanagan Sarah E.¹,Edghill Emma L.¹,Hussain Khalid³,Balafrej Amina⁴,Deeb Asma⁵,Buchanan Charles R.⁶,Jefferson Ian G.⁷,Mutair Angham⁸,Hattersley Andrew T.¹,Ellard Sian¹,

Affiliation:

1. Institute of Biomedical and Clinical Science (O.R.-C., A.-M.P., J.A.L.M., S.E.F., E.L.E., A.T.H., S.E.), Peninsula Medical School, Exeter EX2 5DW, United Kingdom

2. Department of Endocrinology (O.R.-C.), Hospital Infantil Universitario Niño Jesús, 28009 Madrid, Spain

3. Department of Endocrinology (K.H.), Great Ormond Street Hospital for Children, London WC1N 1LE, United Kingdom

4. Pediatric Diabetes Clinic (A.B.), Children’s Hospital, 10101 Rabat, Morocco

5. Imperial College London Diabetes Centre (A.D.), 48338 Abu Dhabi, United Arab Emirates

6. Child Health (C.R.B.), King’s College Hospital National Health Service Trust, London SE5 9RS, United Kingdom

7. Department of Pediatrics (I.G.J.), Sheikh Khalifa Medical City, 51900 Abu Dhabi, United Arab Emirates

8. Department of Pediatrics (A.M.), King Abdulaziz Medical City, Riyadh 11426, Kingdom of Saudi Arabia

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/11/4162/9057347/jcem4162.pdf

Reference34 articles.

1. EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome.;Delépine;Nat Genet,2000

2. Identification and characterization of pancreatic eukaryotic initiation factor 2α-subunit kinase, PEK, involved in translational control.;Shi;Mol Cell Biol,1998

3. Diabetes mellitus and exocrine pancreatic dysfunction in perk−/− mice reveals a role for translational control in secretory cell survival.;Harding;Mol Cell,2001

4. The PERK eukaryotic initiation factor 2α kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas.;Zhang;Mol Cell Biol,2002

5. Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia.;Wolcott;J Pediatr,1972

Cited by 119 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Anamnestic, clinical, laboratory and molecular genetic characteristics of patients with neonatal diabetes mellitus;Pediatrician (St. Petersburg);2024-08-04

2. Wolcott-Rallison syndrome, A rare paediatric case report;The International Journal of Frontier Sciences;2024-07-25

3. Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes;Journal of Diabetes Investigation;2024-07-06

4. PERK inhibition in zebrafish mimics human Wolcott-Rallison syndrome phenotypes;2024-04-20

5. Evaluation and post-transplant management of children after multi-organ-with-kidney transplantation;Pediatric Nephrology;2024-03-14