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Scholar Results 1 - 10 of about 30 citing Edghill: Insulin Mutation Screening in 1,044 Patients With Diabetes. (0.06 sec) 

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 ...
Cited by 15 - Related articles - BL Direct - All 6 versions

Seven mutations in the human insulin gene linked to permanent neonatal/infancy- …


C Colombo, O Porzio, M Liu, O Massa, M … - The Journal of …, 2008 - pubmedcentral.nih.gov
1 Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesù Children's Hospital,
Scientific Institute (IRCCS), Rome, Italy. 2 Department of Internal Medicine, University of Tor
Vergata, Rome, Italy. 3 Division of ...
Cited by 13 - Related articles - BL Direct - All 8 versions

Diagnosis and treatment of neonatal diabetes: an United States experience


J Støy, SAW Greeley, VP Paz, H Ye, AN … - Pediatric …, 2008 - pubmedcentral.nih.gov
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about
50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those
diagnosed between 6 and 12 months. ...
Cited by 5 - Related articles - All 4 versions

An update on lipotoxic endoplasmic reticulum stress in pancreatic beta-cells


M Cnop, M Igoillo-Esteve, D Cunha, L … - Biochemical Society …, 2008 - biochemsoctrans.org
Abbreviations used: ATF, activating transcription factor; BiP, immunoglobulin heavy-chain-binding
protein; CHOP, C/EBP (CCAAT/enhancer-binding protein) homologous protein; CPA, cyclopiazonic acid;
eIF, eukaryotic initiation factor; ...
Cited by 4 - Related articles - Cached - All 5 versions

RNA Processing and mRNA surveillance in monogenic diabetes


JM Locke, LW Harries - 2008 - pubmedcentral.nih.gov
In the eukaryotic cell a number of molecular mechanisms exist to regulate the nature and quantity of
transcripts intended for translation. For monogenic diabetes an understanding of these processes is
aiding scientists and clinicians in ...
Cited by 1 - Related articles - All 3 versions

Mutations in the ABCC8 gene are associated with a variable clinical phenotype


T Klupa, I Kowalska, K Wyka, J Skupien, AM … - Clin Endocrinol ( …, 2008 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to display style sheets. In
this case, although the visual presentation will be degraded, the site should continue to be
functional. We recommend using the ...
Cited by 2 - Related articles - All 3 versions

Insulin Mutations in Diabetes


B Glaser - Diabetes, 2008 - Am Diabetes Assoc
Studies of monogenic disorders of β-cell function have yielded important information on β-cell
physiology and have improved the diagnosis and treatment of patients with these rare diseases. These
disorders include defects ...
Cited by 1 - Related articles - BL Direct - All 3 versions

Permanent Neonatal Diabetes Mellitus Due to a C96Y Heterozygous Mutation in …


A Ahamed, AG Unnikrishnan, SS Pendsey, S … - JOP. J Pancreas (Online …, 2008 - joplink.net
Case report We present a case of permanent neonatal diabetes mellitus due to a C96Y (c.287G>A;
p.Cys96Tyr) heterozygous mutation in the insulin (INS) gene. Both the patient and his father (who
had childhood-onset ...
Cited by 1 - Related articles - Cached - All 3 versions

JBC Papers in Press. Published on October 30, 2009 as Manuscript M109. 038042


AA Holz, L Liu, P Arvan - ASBMB
Manuscript Title: diabetes Misfolded proinsulin affects bystander proinsulin in neonatal ... Date
Submitted by the Author: 23 Sep 2009 ... Complete List of Authors: Holz, Aaron Adams, Leanza Liu,
and Peter Arvan Israel Hodish, Ming ...

A brief perspective on insulin production


DF Steiner, SY Park, J Støy, LH … - Diabetes, Obesity and …, 2009 - interscience.wiley.com
The preeminent role of the beta cell is to manufacture, store and release insulin. The mature
insulin molecule is composed of two polypeptide chains designated as A and B that are joined by two
pairs of disulfide bonds with an ...
Related articles - All 3 versions


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