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Scholar Results 1 - 10 of about 32 citing Herbach: Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes.... (0.09 sec) 

The role for endoplasmic reticulum stress in diabetes mellitus

- endojournals.org
DL Eizirik, AK Cardozo, M Cnop - Endocrine Reviews, 2008 - Endocrine Soc
Accumulating evidence suggests that endoplasmic reticulum (ER) stress plays a role in the pathogenesis
of diabetes, contributing to pancreatic β-cell loss and insulin resistance. Components of the unfolded
protein response (UPR) play a dual role in β-cells, acting as beneficial regulators under ...
Cited by 93 - Related articles - BL Direct - All 5 versions

Insulin gene mutations as a cause of permanent neonatal diabetes

- pnas.org
J Støy, EL Edghill, SE Flanagan, H Ye, … - Proceedings of the …, 2007 - National Acad Sciences
We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal
diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic
members led to the identification of the initial INS gene mutation. The mutations are ...
Cited by 74 - Related articles - BL Direct - All 11 versions

Current approaches for assessing insulin sensitivity and resistance in vivo: …

- physiology.org
R Muniyappa, S Lee, H Chen, MJ … - American Journal of …, 2008 - Am Physiological Soc
Insulin resistance contributes to the pathophysiology of diabetes and is a hallmark of
obesity, metabolic syndrome, and many cardiovascular diseases. Therefore, quantifying insulin
sensitivity/resistance in humans and animal models is of great importance for ...
Cited by 58 - Related articles - BL Direct - All 4 versions

The unfolded protein response: a pathway that links insulin demand with {beta}-cell …

- endojournals.org
D Scheuner, RJ Kaufman - Endocrine Reviews, 2008 - Endocrine Soc
The endoplasmic reticulum (ER) is the entry site into the secretory pathway for newly synthesized
proteins destined for the cell surface or released into the extracellular milieu. The study of protein
folding and trafficking within the ER is an extremely active area of research that has ...
Cited by 38 - Related articles - BL Direct - All 5 versions

Insulin Mutation Screening in 1,044 Patients With Diabetes


EL Edghill, SE Flanagan, AM Patch, C Boustred, A … - Diabetes, 2008 - Am Diabetes Assoc
RESULTS— We identified heterozygous INS mutations in 33 of 141 probands diagnosed at
<6 months, 2 of 86 between 6 and 12 months, and none of 58 between 12 and 24 months of
age. Three known mutations (A24D, F48C, and R89C) account for 46% of cases. There ...
Cited by 30 - Related articles - BL Direct - All 5 versions

Chop deletion reduces oxidative stress, improves β cell function, and promotes cell …


B Song, D Scheuner, D Ron, S Pennathur, … - The Journal of …, 2008 - pubmedcentral.nih.gov
The progression from insulin resistance to type 2 diabetes is caused by the failure of pancreatic
β cells to produce sufficient levels of insulin to meet the metabolic demand. Recent studies indicate
that nutrient fluctuations and insulin resistance increase proinsulin synthesis in β cells ...
Cited by 23 - Related articles - All 7 versions

Comparison between surrogate indexes of insulin sensitivity and resistance and …

- physiology.org
S Lee, R Muniyappa, X Yan, H Chen, LQ … - American Journal of …, 2008 - Am Physiological Soc
Insulin resistance contributes to the pathophysiology of diabetes, obesity, and their cardiovascular
complications. Mouse models of these human diseases are useful for gaining insight into pathophysiological
mechanisms. The reference standard for measuring insulin sensitivity in both humans ...
Cited by 17 - Related articles - BL Direct - All 3 versions

Neonatal diabetes mellitus

- endojournals.org
L Aguilar-Bryan, J Bryan - Endocrine Reviews, 2008 - Endocrine Soc
An explosion of work over the last decade has produced insight into the multiple hereditary causes
of a nonimmunological form of diabetes diagnosed most frequently within the first 6 months of
life. These studies are providing increased understanding of genes involved in the entire ...
Cited by 15 - Related articles - BL Direct - All 6 versions

Proinsulin maturation, misfolding, and proteotoxicity


M Liu, I Hodish, CJ Rhodes, P … - Proceedings of the …, 2007 - National Acad Sciences
As a tool to explore proinsulin (PI) trafficking, a human PI cDNA has been constructed with GFP
fused within the C peptide. In regulated secretory cells containing appropriate prohormone
convertases, the hProCpepGFP construct undergoes endoproteolytic processing to ...
Cited by 12 - Related articles - BL Direct - All 6 versions

Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse …

- physiology.org
B Aigner, B Rathkolb, N Herbach, MH de … - American Journal of …, 2008 - Am Physiological Soc
More than 150 million people suffer from diabetes mellitus worldwide, and this number is expected
to rise substantially within the next decades. Despite its high prevalence, the pathogenesis of
diabetes mellitus is not completely understood. Therefore, appropriate experimental ...
Cited by 5 - Related articles - BL Direct - All 4 versions


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