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Scholar Results 1 - 10 of about 101 related to Vaxillaire: New ABCC8 mutations in relapsing neonatal diabetes and clinical features. (0.08 sec) 

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

- diabetesjournals.org
M Vaxillaire, A Dechaume, K Busiah, H Cavé, S Pereira … - Diabetes, 2007 - Am Diabetes Assoc
Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory
subunit of the pancreatic islet ATP-sensitive K + channel (K ATP channel) cause both permanent
and transient neonatal diabetes. Recently, we have described the novel mechanism ...
Cited by 24 - Related articles - BL Direct - All 6 versions

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes …

- shouxi.net
SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL … - Diabetes, 2007 - Am Diabetes Assoc
Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission
in infancy or early childhood. For 50% of patients, their diabetes will relapse in later life. The
majority of cases result from anomalies of the imprinted region on chromosome 6q24, and ...
Cited by 50 - Related articles - BL Direct - All 8 versions

Prevalence of permanent neonatal diabetes in Slovakia and successful …

- endojournals.org
J Stanik, D Gasperikova, M Paskova, L Barak, J … - Journal of Clinical …, 2007 - Endocrine Soc
Context: Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic ß-cell K ATP channel
have recently been shown to be the most common cause of permanent neonatal diabetes mellitus
(PNDM). Information regarding the frequency of PNDM has been based mainly on ...
Cited by 30 - Related articles - BL Direct - All 4 versions

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with …

- diabetesjournals.org
EL Edghill, RJ Dix, SE Flanagan, PJ Bingley, AT … - Diabetes, 2006 - Am Diabetes Assoc
Children with permanent diabetes are usually assumed to have type 1 diabetes. It has recently
been shown that there are genetic subgroups of diabetes that are often diagnosed during the
neonatal period but may present later. A recent Italian study proposed that type 1 ...
Cited by 33 - Related articles - BL Direct - All 6 versions

Diabetes in very young children and mutations in the insulin-secreting cell …


I Flechtner, M Vaxillaire, H Cav├®, R … - Endocrine …, 2007 - content.karger.com
Shield JPH, Scharfmann R (eds): Development of the Pancreas and Neonatal Diabetes. Endocr
Dev. Basel, Karger, 2007, vol 12, pp 86–98 ... Abstract ATP-sensitive potassium (K ATP ) channels
regulate the flux of K + ions across the cell membranes and cou- ... Isabelle Flechtner a ...
Cited by 9 - Related articles - BL Direct - All 4 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
It is also possible that your web browser is not configured or not able to display style sheets.
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functional. We recommend using the latest version of Microsoft or Mozilla web browser to ...
Cited by 9 - Related articles - All 3 versions

Mutations in KCNJ11, which encodes Kir6. 2, are a common cause of diabetes …


SE Flanagan, EL Edghill, AL Gloyn, S Ellard, AT … - Diabetologia, 2006 - Springer
Mutations in KCNJ11, which encodes Kir6.2, are a common cause ... Received: 3 November
2005 / Accepted: 28 February 2006 / Published online: 12 April 2006 # Springer-Verlag 2006
... Abstract Aims/hypothesis: Heterozygous activating mu- tations in KCNJ11, which ...
Cited by 75 - Related articles - BL Direct - All 4 versions

A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes …


R Masia, DD De Leon, C MacMullen, H McKnight, CA … - Diabetes, 2007 - Am Diabetes Assoc
RESULTS—L225P-containing K ATP channels were significantly more active in the intact cell
than in wild-type channels. In excised membrane patches, L225P increased channel sensitivity
to stimulatory Mg nucleotides without altering intrinsic gating or channel inhibition by ATP ...
Cited by 12 - Related articles - BL Direct - All 6 versions

[PDF] Kir6. 2 mutations are a common cause of permanent neonatal diabetes in a large …


M Vaxillaire, C Populaire, K Busiah, H Cavé, … - DIABETES-NEW …, 2004 - Am Diabetes Assoc
Page 1. Brief Genetics Report Kir6.2 Mutations Are a Common Cause of Permanent
Neonatal Diabetes in a Large Cohort of French Patients Martine Vaxillaire, 1 Céline
Populaire, 1 Kanetee Busiah, 2 Héle`ne Cavé, 3 Anna L. Gloyn, 4 ...
Cited by 102 - Related articles - BL Direct - All 4 versions

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient …

- diabetesjournals.org
JPH Shield, SE Flanagan, DJ Mackay, LW Harries, P … - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE— Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and
SUR1 subunits of the pancreatic ATP-sensitive K + channel are the most common cause of permanent
neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations ...
Cited by 6 - Related articles - BL Direct - All 5 versions


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