Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Annet Damhuis"'
Autor:
Philippa A. Dryland, Annet Damhuis, Donald R. Love, Douglas Rosendale, Kimberley Hughes, Elaine Doherty
Publikováno v:
British Journal of Medicine and Medical Research. 17:1-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::676ec1dfac127bbce3b97ff624f8f329
https://doi.org/10.9734/bjmmr/2016/28769
https://doi.org/10.9734/bjmmr/2016/28769
Autor:
Elisa De Franco, Frances M. Ashcroft, Annet Damhuis, Vũ Chí Dũng, Sarah E. Flanagan, Jayne A L Houghton, Can Thi Bich Ngoc, Lorna W. Harries, Sian Ellard
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 9(3)
The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::231070413c1ce6dd5ea22c1608462617
http://ora.ox.ac.uk/objects/uuid:
http://ora.ox.ac.uk/objects/uuid:
Autor:
Sarah E, Flanagan, Vũ Chí, Dũng, Jayne A L, Houghton, Elisa, De Franco, Can Thi Bich, Ngoc, Annet, Damhuis, Frances M, Ashcroft, Lorna W, Harries, Sian, Ellard
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::87a925ca2342d343a83c4151556bdefd
https://pubmed.ncbi.nlm.nih.gov/28663158
https://pubmed.ncbi.nlm.nih.gov/28663158
Publikováno v:
Pediatric Diabetes. 13:322-325
Background/Objective Mutations in the KATP channel genes are the commonest cause of permanent neonatal diabetes. Most patients obtain optimal glycemic control on sulfonylurea treatment. Genetic testing is currently recommended for all infants diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::701e4d8cdac04af075f23cffe4d469f6
https://doi.org/10.1111/j.1399-5448.2011.00824.x
https://doi.org/10.1111/j.1399-5448.2011.00824.x
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia
Autor:
Ritika Kapoor, Indraneel Banerjee, Sarah E. Flanagan, Dariusz Rokicki, Annet Damhuis, Khalid Hussain, Craig Jefferies, Sian Ellard
Publikováno v:
Pediatric Diabetes. 13:285-289
Inactivating mutations in the pancreatic beta cell ATP-sensitive potassium (K(ATP) ) channel genes are identified by sequencing in approximately 80% of patients with diazoxide-unresponsive hyperinsulinaemic hypoglycaemia (HH). Genetic testing is clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::040e4ee754ef08dda52ddd671fe74b35
https://doi.org/10.1111/j.1399-5448.2011.00821.x
https://doi.org/10.1111/j.1399-5448.2011.00821.x
Publikováno v:
Pathology. 50:S116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2c0b266efbf5d71b5b86131b27ab74f
https://doi.org/10.1016/j.pathol.2017.12.330
https://doi.org/10.1016/j.pathol.2017.12.330
Autor:
Peter Clayton, Michael N. Weedon, Feyza Darendeliler, Christine Vianey-Saban, Richard Caswell, Peter E. Clayton, Annet Damhuis, Weijia Xie, Maureen J. O'Sullivan, Zeynep Şıklar, Andrew Green, Khalid Hussain, Ayla Güven, Indraneel Banerjee, Gönül Öcal, Merih Berberoğlu, Firdevs Bas, Sian Ellard, Sarah E. Flanagan, Nuala Murphy, Teoman Akcay
Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e9276f5e9a5a2162f334b68c8fbe66
https://europepmc.org/articles/PMC3542457/
https://europepmc.org/articles/PMC3542457/
Autor:
Andrew T. Hattersley, Annet Damhuis, Sarah E. Flanagan, Maggie Shepherd, Pamela Bowman, Emma L. Edghill, R. Paisey, Sian Ellard
Publikováno v:
Diabetologia. 55(1)
The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (K(ATP)) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3d4085cac593a77ced947d38a79e579
https://pubmed.ncbi.nlm.nih.gov/21989597
https://pubmed.ncbi.nlm.nih.gov/21989597
Publikováno v:
Pediatric diabetes. 13(4)
Mutations in the K(ATP) channel genes are the commonest cause of permanent neonatal diabetes. Most patients obtain optimal glycemic control on sulfonylurea treatment. Genetic testing is currently recommended for all infants diagnosed before 6 months
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8e2d57e0d35028b7e46ab3b429e0f2b
https://pubmed.ncbi.nlm.nih.gov/21981029
https://pubmed.ncbi.nlm.nih.gov/21981029