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Scholar Results 1 - 10 of about 50 citing Flanagan: Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and.... (0.12 sec) 

Clinical implications of a molecular genetic classification of monogenic β-cell …


R Murphy, S Ellard, AT Hattersley - Nature Clinical Practice Endocrinology …, 2008 - nature.com
Sian Ellard is Professor of Human Molecular Genetics, Peninsula Medical School, Exeter,
UK. Following research training at the University of Swansea (UK), she set up the Molecular
Genetics Laboratory in Exeter with Professor Andrew Hattersley in 1995. Her research is ...
Cited by 31 - Related articles - BL Direct - All 6 versions

Effective treatment with oral sulfonylureas in patients with diabetes due to …

- diabetesjournals.org
M Rafiq, SE Flanagan, AM Patch, BM Shields, S … - Diabetes Care, 2008 - Am Diabetes Assoc
OBJECTIVE—Neonatal diabetes can result from mutations in the Kir6.2 or sulfonylurea receptor
1 (SUR1) subunits of the ATP-sensitive K + channel. Transfer from insulin to oral sulfonylureas
in patients with neonatal diabetes due to Kir6.2 mutations is well described, but less is ...
Cited by 19 - Related articles - BL Direct - All 5 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

ATP-sensitive K+ channels and disease: from molecule to malady

- physiology.org
FM Ashcroft - American Journal of Physiology- Endocrinology And …, 2007 - Am Physiological Soc
This essay is based on a lecture given to the American Physiological Society in honor of Walter
B. Cannon, an advocate of homeostasis. It focuses on the role of the ATP-sensitive potassium
K + (K ATP ) channel in glucose homeostasis and, in particular, on its role in insulin ...
Cited by 12 - Related articles - BL Direct - All 2 versions

Heterozygous missense mutations in the insulin gene are linked to permanent …

- diabetesjournals.org
M Polak, A Dechaume, H Cavé, R Nimri, H Crosnier, V … - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE—Permanent neonatal diabetes (PND) is defined by chronic hyperglycemia due
to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Several
genes, including KCNJ11 and ABCC8, which encode the two subunits of the ...
Cited by 12 - Related articles - BL Direct - All 5 versions

The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its …

- ahajournals.org
MA Burke, RK Mutharasan, H Ardehali - Circulation Research, 2008 - Am Heart Assoc
ATP-binding cassette (ABC) proteins are highly conserved and widely expressed throughout
nature and found in all organisms, both prokaryotic and eukaryotic. They mediate myriad critical
cellular processes, from nutrient import to toxin efflux using the energy derived from ATP ...
Cited by 13 - Related articles - All 6 versions

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel …


AM Patch, SE Flanagan, C Boustred, AT … - Diabetes Obes …, 2007 - interscience.wiley.com
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Cited by 9 - Related articles - All 3 versions

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide- …


H de Wet, MG Rees, K Shimomura, J … - Proceedings of the …, 2007 - National Acad Sciences
Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (K ATP ) channel
subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) are a common cause of neonatal diabetes
mellitus. Here we investigate the molecular mechanism by which two heterozygous ...
Cited by 10 - Related articles - BL Direct - All 7 versions

Differential diagnosis of type 1 diabetes: which genetic syndromes need to be …


TG Barrett - Pediatric Diabetes, 2007 - 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 latest version of Microsoft or Mozilla web browser to ...
Cited by 11 - Related articles - BL Direct - All 3 versions

KATP channel pharmacogenomics: from bench to bedside


S Sattiraju, S Reyes, GC Kane, A … - Clinical pharmacology …, 2008 - pubmedcentral.nih.gov
Pharmacogenomics has established genetic variations in drug-metabolizing pathways,
transporters, receptors, and signaling cascades as critical in defining pharmacokinetic and/or
pharmacodynamic outcomes. 3 A therapeutic target that has recently received attention is ...
Cited by 8 - Related articles - All 4 versions


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