Emma L Edghill
Overview
Explore the profile of Emma L Edghill including associated specialties, affiliations and a list of published articles.
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Articles
32
Citations
2074
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Recent Articles
1.
Oram R, Edghill E, Woolf A, Hennekam R, Ellard S, Hattersley A, et al.
NDT Plus
. 2015 May;
2(2):183-4.
PMID: 25949327
No abstract available.
2.
Flanagan S, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul M, Edge J, et al.
Cell Metab
. 2014 Jan;
19(1):146-54.
PMID: 24411943
Understanding transcriptional regulation of pancreatic development is required to advance current efforts in developing beta cell replacement therapies for patients with diabetes. Current knowledge of key transcriptional regulators has predominantly...
3.
Beer N, Osbak K, van de Bunt M, Tribble N, Steele A, Wensley K, et al.
Diabetes Care
. 2012 May;
35(7):1482-4.
PMID: 22611063
Objective: To demonstrate the importance of using a combined genetic and functional approach to correctly interpret a genetic test for monogenic diabetes. Research Design And Methods: We identified three probands...
4.
Edghill E, Flanagan S, Ellard S
Rev Endocr Metab Disord
. 2010 Oct;
11(3):193-8.
PMID: 20922570
The ATP-sensitive potassium (K(ATP)) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have...
5.
Oram R, Edghill E, Blackman J, Taylor M, Kay T, Flanagan S, et al.
Am J Obstet Gynecol
. 2010 Jul;
203(4):364.e1-5.
PMID: 20633866
Objective: Congenital uterine abnormalities are common and may be associated with developmental renal abnormalities. Mutations of the hepatocyte nuclear factor-1β (HNF1B) gene are associated with renal and uterine abnormalities. We...
6.
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Garin I, Edghill E, Akerman I, Rubio-Cabezas O, Rica I, Locke J, et al.
Proc Natl Acad Sci U S A
. 2010 Feb;
107(7):3105-10.
PMID: 20133622
Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of...
7.
Edghill E, Minton J, Groves C, Flanagan S, Patch A, Rubio-Cabezas O, et al.
JOP
. 2010 Jan;
11(1):14-7.
PMID: 20065546
Context: Approximately 39% of cases with permanent neonatal diabetes (PNDM) and about 11% with maturity onset diabetes of the young (MODY) have an unknown genetic aetiology. Many of the known...
8.
Rubio-Cabezas O, Patch A, Minton J, Flanagan S, Edghill E, Hussain K, et al.
J Clin Endocrinol Metab
. 2009 Oct;
94(11):4162-70.
PMID: 19837917
Context And Objective: Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical...
9.
Suliman S, Stanik J, McCulloch L, Wilson N, Edghill E, Misovicova N, et al.
Diabetes
. 2009 Sep;
58(12):2954-61.
PMID: 19720790
Objective: Digenic causes of human disease are rarely reported. Insulin via its receptor, which is encoded by INSR, plays a key role in both metabolic and growth signaling pathways. Heterozygous...
10.
Edghill E, Hameed S, Verge C, Rubio-Cabezas O, Argente J, Sumnik Z, et al.
JOP
. 2009 Jul;
10(4):457-8.
PMID: 19581757
No abstract available.