Clinical utility gene card for: Maturity-onset diabetes of the young

Por Colclough, Kevin, Saint-Martin, Cécile, Timsit, José, Ellard, Sian, Bellanné-Chantelot, Christine
Publicado em 2014

Diagnosis of monogenic diabetes: 10‐Year experience in a large multi‐ethnic diabetes center

Por Thomas, Ellen RA, Brackenridge, Anna, Kidd, Julia, Kariyawasam, Dulmini, Carroll, Paul, Colclough, Kevin, Ellard, Sian
Publicado no J Diabetes Investig (2015)

South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people

Por Misra, Shivani, Shields, Beverley, Colclough, Kevin, Johnston, Desmond G, Oliver, Nick S, Ellard, Sian, Hattersley, Andrew T
Publicado no Diabetologia (2016)

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia

Por Stride, Amanda, Shields, Beverley, Gill-Carey, Olivia, Chakera, Ali J., Colclough, Kevin, Ellard, Sian, Hattersley, Andrew T.
Publicado em 2013

Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies

Por Steele, Anna M., Wensley, Kirsty J., Ellard, Sian, Murphy, Rinki, Shepherd, Maggie, Colclough, Kevin, Hattersley, Andrew T., Shields, Beverley M.
Publicado em 2013

Discovery of a Novel Site Regulating Glucokinase Activity following Characterization of a New Mutation Causing Hyperinsulinemic Hypoglycemia in Humans

Por Beer, Nicola L., van de Bunt, Martijn, Colclough, Kevin, Lukacs, Christine, Arundel, Paul, Chik, Constance L., Grimsby, Joseph, Ellard, Sian, Gloyn, Anna L.
Publicado em 2011

Characteristics of maturity onset diabetes of the young in a large diabetes center

Por Chambers, Christina, Fouts, Alexandra, Dong, Fran, Colclough, Kevin, Wang, Zhenyuan, Batish, Sat Dev, Jaremko, Malgorzata, Ellard, Sian, Hattersley, Andrew T, Klingensmith, Georgeanna, Steck, Andrea K
Publicado no Pediatr Diabetes (2015)

Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes

Por Lango Allen, Hana, Johansson, Stefan, Ellard, Sian, Shields, Beverley, Hertel, Jens K., Ræder, Helge, Colclough, Kevin, Molven, Anders, Frayling, Timothy M., Njølstad, Pål R., Hattersley, Andrew T., Weedon, Michael N.
Publicado em 2010

Cystatin C is not a good candidate biomarker for HNF1A-MODY

Por Nowak, Natalia, Szopa, Magdalena, Thanabalasingham, Gaya, McDonald, Tim J., Colclough, Kevin, Skupien, Jan, James, Timothy J., Kiec-Wilk, Beata, Kozek, Elzbieta, Mlynarski, Wojciech, Hattersley, Andrew T., Owen, Katharine R., Malecki, Maciej T.
Publicado em 2012

The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes

Por Laver, Thomas W, Colclough, Kevin, Shepherd, Maggie, Patel, Kashyap, Houghton, Jayne AL, Dusatkova, Petra, Pruhova, Stepanka, Morris, Andrew D, Palmer, Colin N, McCarthy, Mark I, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N
Publicado no Diabetes (2016)

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hy...

Por Gašperíková, Daniela, Tribble, Nicolas D., Staník, Juraj, Hučková, Miroslava, Mišovicová, Nadežda, van de Bunt, Martijn, Valentínová, Lucia, Barrow, Beryl A., Barák, L'ubomir, Dobránsky, Radoslav, Bereczková, Eva, Michálek, Jozef, Wicks, Kate, Colclough, Kevin, Knight, Julian C., Ellard, Sian, Klimeš, Iwar, Gloyn, Anna L.
Publicado em 2009

Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the UK pediatric diabetes population with monogenic diabetes

Por Shepherd, Maggie, Shields, Beverley, Hammersley, Suzanne, Hudson, Michelle, McDonald, Timothy J, Colclough, Kevin, Oram, Richard A, Knight, Bridget, Hyde, Christopher, Cox, Julian, Mallam, Katherine, Moudiotis, Christopher, Smith, Rebecca, Fraser, Barbara, Robertson, Simon, Greene, Stephen, Ellard, Sian, Pearson, Ewan R, Hattersley, Andrew T
Publicado no Diabetes Care (2016)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Por Raimondo, Anne, Chakera, Ali J., Thomsen, Soren K., Colclough, Kevin, Barrett, Amy, De Franco, Elisa, Chatelas, Alisson, Demirbilek, Huseyin, Akcay, Teoman, Alawneh, Hussein, Flanagan, Sarah E., Van De Bunt, Martijn, Hattersley, Andrew T., Gloyn, Anna L., Ellard, Sian, Abduljabbar, Mohammad A., Al-Zyoud, Mahmoud, Aman, Syed, Bath, Louise, De, Parijat, Deshpande, Neeta, Durmaz, Erdem, Eickmeier, Frank, Elbarbary, Nancy Samir, Fillion, Marc, Jagadeesh, Sujatha M., Kershaw, Melanie, Khan, Waqas I., Mlynarski, Wojciech, Noyes, Kathryn, Peters, Catherine J., Shaw, Nick, Tiron, Irina, Turkkahraman, Doga, Turner, Lesley, Eltonbary, Khadiga Y., Yuksel, Bilgin
Publicado no Hum Mol Genet (2014)