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Scholar Results 1 - 10 of about 101 related to Hussain: An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse.... (0.11 sec) 

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


K Hussain, SE Flanagan, VV Smith, M Ashworth, M Day … - 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 results from recessive ATP-sensitive K + ...
Cited by 10 - Related articles - BL Direct - All 4 versions

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism …


SE Pinney, C MacMullen, S Becker, YW … - The Journal of …, 2008 - pubmedcentral.nih.gov
Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating
mutations of the ATP-sensitive K + (K ATP ) channel in the pancreatic β cell. Though most
disease-causing mutations of the 2 genes encoding K ATP subunits, ABCC8 (SUR1) and ...
Cited by 12 - Related articles - All 6 versions

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism


L Damaj, M le Lorch, V Verkarre, C Werl, L … - Journal of Clinical …, 2008 - Endocrine Soc
Context: Focal forms of congenital hyperinsulinism are due to a constitutional heterozygous mutation
of paternal origin in the ABCC8 gene, more often than the KCNJ11 gene, located in the
11p15.1 region. This mutation is associated with the loss of the maternally inherited ...
Cited by 3 - Related articles - All 3 versions

Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of …

- nih.gov
T Otonkoski, H Jiao, N Kaminen-Ahola, I Tapia- … - The American Journal of …, 2007 - Elsevier
Exercise-induced hyperinsulinism (EIHI) is a dominantly inherited hypoglycemic disorder characterized
by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. We aimed
to identify the molecular basis of this novel disorder of β-cell regulation. EIHI mapped to ...
Cited by 20 - Related articles - BL Direct - All 12 versions

The Knudson's two-hit model and timing of somatic mutation may account for the …

- endojournals.org
I Giurgea, C Sempoux, C Bellanne-Chantelot, M … - Journal of Clinical …, 2006 - Endocrine Soc
Background: Congenital hyperinsulinism (CHI) is associated with focal hyperplasia of endocrine
tissue in 40–65% of patients. Focal CHI is sporadic and is caused by a germline, paternally
inherited, mutation of the SUR1 (ABCC8) or KIR6.2 (KCNJ11) genes (encoding subunits ...
Cited by 15 - Related articles - BL Direct - All 4 versions

Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of …

- fetalneonatal.com
K Hussain, O Blankenstein, P De Lonlay, HT … - British Medical …, 2007 - adc.bmj.com
Gary E Butler, Department of Paediatrics and Growth, Institute of Health Sciences, University
of Reading, Reading, UK Elaine A Beadle, Department of Philosophy, University of Reading,
Reading, UK ... Correspondence to: Professor Gary E Butler, Department of Paediatrics ...
Cited by 7 - Related articles - BL Direct - All 5 versions

The laparoscopic approach toward hyperinsulinism in children


KNMA Bax, DC van der Zee - Seminars in Pediatric Surgery, 2007 - Elsevier
Hyperinsulinemic hypoglycemia (HH) in children requiring surgery is rare. Early HH can be the
result of focal or diffuse pancreatic pathology. A number of genetic abnormalities in early HH
have been identified, but in the majority of patients no abnormality is found. The sporadic ...
Cited by 6 - Related articles - All 2 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

Hyperinsulinism in developmental syndromes


RR Kapoor, C James, K Hussain - Endocrine Involvement in …, 2009 - books.google.com
Cappa M, Maghnie M, Loche S, Bottazzo GF (eds): Endocrine Involvement in Developmental
Syndromes. Endocr Dev. Basel, Karger, 2009, vol 14, pp 95-113 Hyperinsulinism in Developmental
Syndromes Ritika R. Kapoor• Chela James• Khalid Hussain London Centre for Paediatric ...
Cited by 1 - Related articles - All 4 versions

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the …

- diabetesjournals.org
RR Kapoor, J Locke, K Colclough, J Wales, JJ Conn, … - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE—Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor
(HNF)-4α are known to cause maturity-onset diabetes of the young (MODY), which is characterized
by autosomal-dominant inheritance and impaired glucose-stimulated insulin secretion ...
Cited by 8 - Related articles - All 3 versions


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