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Literature DB >> 10968248

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy.

P Castelnau, M Le Merrer, C Diatloff-Zito, E Marquis, M J Tête, J J Robert.

Abstract

Clinical analysis and genetic investigations of new cases of Wolcott-Rallison syndrome are needed to evaluate the role of the gene(s) directly or indirectly implicated in pancreas development and in the aetiology of the syndrome.

Entities: Disease

Mesh：

Year: 2000 PMID： 10968248 DOI： 10.1007/pl00008394

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

Keyword Cloud
Cited

15 in total

1. Novel mutation in wolcott-rallison syndrome with variable expression in two omani siblings.

Authors: Siham Al-Sinani; Saif Al-Yaarubi; Sharef Waadallah Sharef; Fathyia Al-Murshedi; Watfa Al-Maamari
Journal: Oman Med J Date: 2015-03

Review 2. Wolcott-Rallison syndrome.

Authors: Cécile Julier; Marc Nicolino
Journal: Orphanet J Rare Dis Date: 2010-11-04 Impact factor: 4.123

3. Activating transcription factor 3 is integral to the eukaryotic initiation factor 2 kinase stress response.

Authors: Hao-Yuan Jiang; Sheree A Wek; Barbara C McGrath; Dan Lu; Tsonwin Hai; Heather P Harding; Xiaozhong Wang; David Ron; Douglas R Cavener; Ronald C Wek
Journal: Mol Cell Biol Date: 2004-02 Impact factor: 4.272

4. Phosphorylation of the alpha subunit of eukaryotic initiation factor 2 is required for activation of NF-kappaB in response to diverse cellular stresses.

Authors: Hao-Yuan Jiang; Sheree A Wek; Barbara C McGrath; Donalyn Scheuner; Randal J Kaufman; Douglas R Cavener; Ronald C Wek
Journal: Mol Cell Biol Date: 2003-08 Impact factor: 4.272

Review 5. The unfolded protein response: a pathway that links insulin demand with beta-cell failure and diabetes.

Authors: Donalyn Scheuner; Randal J Kaufman
Journal: Endocr Rev Date: 2008-04-24 Impact factor: 19.871

6. Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.

Authors: Betül Ersoy; Bayram Özhan; Seniha Kiremitçi; Oscar Rubio-Cabezas; Sian Ellard
Journal: Eur J Pediatr Date: 2013-08-11 Impact factor: 3.183

7. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Authors: Ghada M H Abdel-Salam; Ashleigh E Schaffer; Maha S Zaki; Tracy Dixon-Salazar; Inas S Mostafa; Hanan H Afifi; Joseph G Gleeson
Journal: Am J Med Genet A Date: 2012-09-18 Impact factor: 2.802