Pancreatic beta-cell stimulation tests in transient and persistent congenital hyperinsulinism

2007 ◽  
Vol 90 (10) ◽  
pp. 1116-1120 ◽  
Author(s):  
HBT Christesen ◽  
N Feilberg-Jørgensen ◽  
Brock Jacobsen
Keyword(s):  
Beta Cell ◽  
Pancreatic Beta Cell ◽  
Congenital Hyperinsulinism ◽  
Cell Stimulation ◽  
Stimulation Tests

scholarly journals A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1

2021 ◽  
Author(s):  
Matthew N. Wakeling ◽  
Nick D. L. Owens ◽  
Jessica R. Hopkinson ◽  
Matthew B. Johnson ◽  
Jayne A.L. Houghton ◽  
...  
Keyword(s):  
Beta Cell ◽  
Pancreatic Beta Cells ◽  
De Novo ◽  
Regulatory Element ◽  
Pancreatic Beta Cell ◽  
Regulatory Region ◽  
Protein Product ◽  
Congenital Hyperinsulinism ◽  
Disease Mechanism ◽  
Regulatory Mutations

AbstractGene expression is tightly regulated with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function. This silencing is largely controlled by non-coding elements and their disruption might cause human disease. We performed gene-agnostic screening of the non-coding regions to discover new molecular causes of congenital hyperinsulinism. This identified 14 non-coding de novo mutations affecting a 42bp conserved region encompassed by a regulatory element in intron 2 of Hexokinase 1 (HK1), a pancreatic beta-cell disallowed gene. We demonstrated that these mutations resulted in expression of HK1 in the pancreatic beta-cells causing inappropriate insulin secretion and congenital hyperinsulinism. These mutations identify a regulatory region critical for cell-specific silencing. Importantly, this has revealed a new disease mechanism for non-coding mutations that cause inappropriate expression of a disallowed gene.

Modification of the Ca2+ influx pattern of the pancreatic beta cell by high extracellular potassium

2015 ◽  
Vol 10 (S 01) ◽  
Author(s):  
N Görgler ◽  
M Willenborg ◽  
K Schumacher ◽  
A Welling ◽  
I Rustenbeck
Keyword(s):  
Beta Cell ◽  
Pancreatic Beta Cell ◽  
Extracellular Potassium

Simulation Model of Insulin Granule Dynamics in Pancreatic Beta Cell

2015 ◽  
Vol 135 (8) ◽  
pp. 963-970
Author(s):  
Takuya Matsumoto ◽  
Naoki Tabata ◽  
Hisashi Tamaki ◽  
Tadao Shibasaki ◽  
Susumu Seino ◽  
...  
Keyword(s):  
Beta Cell ◽  
Simulation Model ◽  
Pancreatic Beta Cell ◽  
Insulin Granule

Investigation on the Protective Effect of Canagliflozin on Pancreatic Beta-Cell Mass Using SPECT/CT Imaging with 111In-Labeled Exendin-4

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 2124-P
Author(s):  
KEITA HAMAMATSU ◽  
HIROYUKI FUJIMOTO ◽  
NAOTAKA FUJITA ◽  
TAKAAKI MURAKAMI ◽  
MASAHARU SHIOTANI ◽  
...  
Keyword(s):  
Beta Cell ◽  
Protective Effect ◽  
Pancreatic Beta Cell ◽  
Cell Mass ◽  
Beta Cell Mass ◽  
Ct Imaging ◽  
Pancreatic Beta Cell Mass

Novel Use of Agent11C-PHNO for Pet CT Imaging of Pancreatic Beta-Cell Mass

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 2145-P
Author(s):  
ELIZABETH SANCHEZ RANGEL ◽  
JASON BINI ◽  
NABEEL B. NABULSI ◽  
YIYUN HUANG ◽  
KEVAN C. HEROLD ◽  
...  
Keyword(s):  
Beta Cell ◽  
Pancreatic Beta Cell ◽  
Cell Mass ◽  
Beta Cell Mass ◽  
Ct Imaging ◽  
Pet Ct ◽  
Pancreatic Beta Cell Mass

2123-P: Peroxiredoxin6 Is a Novel Promoter of Pancreatic Beta-Cell Survival

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 2123-P
Author(s):  
FRANCESCA PACIFICI ◽  
DAVID DELLA-MORTE ◽  
BARBARA CAPUANI ◽  
DONATELLA PASTORE ◽  
ROBERTO ARRIGA ◽  
...  
Keyword(s):  
Beta Cell ◽  
Cell Survival ◽  
Pancreatic Beta Cell
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