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Scholar Results 1 - 10 of about 101 related to Shield: Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with.... (0.14 sec) 

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

- diabetesjournals.org
JPH Shield, SE Flanagan, DJ Mackay, LW … - 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, ...
Cited by 6 - Related articles - BL Direct - All 5 versions

Functional analysis of two Kir6. 2 (KCNJ11) mutations, K170T and E322K, causing neonatal …


AI Tarasov, CA Girard, B Larkin, P Tammaro, … - Diabetes Obes Metab, 2007 - interscience.wiley.com
Heterozygous activating mutations in Kir6.2 (KCNJ11), the pore-forming subunit
of the adenosine triphosphate (ATP)-sensitive potassium (K ATP ) channel, are a
common cause of neonatal diabetes (ND). We assessed the functional effects ...
Cited by 2 - Related articles - All 2 versions

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to …


MS Kim, SY Kim, GH Kim, HW Yoo, DW Lee, … - Journal of Korean Medical Science, 2007 - pubmedcentral.nih.gov
Cited by 2 - Related articles - BL Direct - All 5 versions

Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus …


YM Chan, LM Laffel - Pediatric Diabetes, 2007 - interscience.wiley.com
Abstract: Initial management of neonatal diabetes mellitus consists of insulin
and adequate calories for growth. Once a genetic diagnosis is made, most
patients with neonatal diabetes caused by mutations in the KCNJ11 gene can ...
Cited by 3 - Related articles - BL Direct - All 3 versions

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

- nih.gov
H de Wet, MG Rees, K Shimomura, J … - Proceedings of the National Academy of Sciences, 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 ...
Cited by 9 - Related articles - BL Direct - All 7 versions

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy

- pedpath.org
RM Greer, J Shah, YW Jeske, D Brown, RM … - Pediatric and Developmental Pathology, 2007 - pedpath.org
In hyperinsulinism of infancy (HI), unregulated insulin secretion causes
hypoglycemia. Pancreatectomy may be required in severe cases, most of which
result from a defect in the β-cell K ATP channel, encoded by ABCC8 and ...
Cited by 4 - Related articles - All 2 versions

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse …


K Hussain, SE Flanagan, VV Smith, M Ashworth … - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE— Congenital hyperinsulinism (CHI) may be due to diffuse or focal
pancreatic disease. The diffuse form is associated with an increase in the size
of β-cell nuclei throughout the whole of the pancreas and most commonly ...
Cited by 10 - Related articles - BL Direct - All 4 versions

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with …


FR Grati, L Turolla, P d'Ajello, A Ruggeri, M … - British Medical Journal, 2007 - jmg.bmj.com
Background: The phenotypic variability in Beckwith–Wiedemann syndrome (BWS)
reflects the genetic heterogeneity of the mechanism which by default leads to
the deregulation of genes located at 11p15.5. Genotype–phenotype ...
Cited by 6 - Related articles - BL Direct - All 6 versions

Malignancy risk and Wiedemann–Beckwith syndrome: What follow-up to provide?


J Santiago, M Muszlak, C Samson, E Goulois, … - Archives de pédiatrie, 2008 - Elsevier
Le syndrome de Wiedemann-Beckwith (SWB) est un syndrome de croissance excessive
prédisposant, a priori, à la survenue de tumeurs embryonnaires dans les
premières années de vie. Si ce risque est globalement évalué entre 7,5 ...
Related articles - All 2 versions

The majority of cases of neonatal diabetes in Spain can be explained by known genetic …


I Rica, C Luzuriaga, G Perezdenanclares, I … - Diabetic Medicine, 2007 - interscience.wiley.com
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Cited by 7 - Related articles - BL Direct - All 4 versions


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