Search Results - "Shepherd, Maggie H"

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance by Patel, Kashyap A., Kettunen, Jarno, Laakso, Markku, Stančáková, Alena, Laver, Thomas W., Colclough, Kevin, Johnson, Matthew B., Abramowicz, Marc, Groop, Leif, Miettinen, Päivi J., Shepherd, Maggie H., Flanagan, Sarah E., Ellard, Sian, Inagaki, Nobuya, Hattersley, Andrew T., Tuomi, Tiinamaija, Cnop, Miriam, Weedon, Michael N.

“…Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young…”
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GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency by DE FRANCO, Elisa, SHAW-SMITH, Charles, FLANAGAN, Sarah E, SHEPHERD, Maggie H, NDM CONSORTIUM, International, HATTERSLEY, Andrew T, ELLARD, Sian

“…We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated…”
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Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes by Babiker, Tarig, Vedovato, Natascia, Patel, Kashyap, Thomas, Nicholas, Finn, Roisin, Männikkö, Roope, Chakera, Ali J., Flanagan, Sarah E., Shepherd, Maggie H., Ellard, Sian, Ashcroft, Frances M., Hattersley, Andrew T.

“…Aims/hypothesis The finding that patients with diabetes due to potassium channel mutations can transfer from insulin to sulfonylureas has revolutionised the…”
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Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants by Caswell, Richard C, Snowsill, Tristan, Houghton, Jayne A L, Chakera, Ali J, Shepherd, Maggie H, Laver, Thomas W, Knight, Bridget A, Wright, David, Hattersley, Andrew T, Ellard, Sian

“…Abstract Background Babies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if…”
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Fundamental nursing care in patients with the SARS-CoV-2 virus: results from the 'COVID-NURSE' mixed methods survey into nurses' experiences of missed care and barriers to care by Sugg, Holly V R, Russell, Anne-Marie, Morgan, Leila M, Iles-Smith, Heather, Richards, David A, Morley, Naomi, Burnett, Sarah, Cockcroft, Emma J, Thompson Coon, Jo, Cruickshank, Susanne, Doris, Faye E, Hunt, Harriet A, Kent, Merryn, Logan, Philippa A, Rafferty, Anne Marie, Shepherd, Maggie H, Singh, Sally J, Tooze, Susannah J, Whear, Rebecca

“…Patient experience of nursing care is associated with safety, care quality, treatment outcomes, costs and service use. Effective nursing care includes meeting…”
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GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation by Chia, Crystal Y., Madrigal, Pedro, Denil, Simon L.I.J., Martinez, Iker, Garcia-Bernardo, Jose, El-Khairi, Ranna, Chhatriwala, Mariya, Shepherd, Maggie H., Hattersley, Andrew T., Dunn, N. Ray, Vallier, Ludovic

“…Heterozygous de novo mutations in GATA6 are the most frequent cause of pancreatic agenesis in humans. In mice, however, a similar phenotype requires the…”
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Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes by Bowman, Pamela, Patel, Kashyap A, McDonald, Timothy J, Holst, Jens J, Hartmann, Bolette, Leveridge, Maria, Shields, Beverley M, Hammersley, Suzie, Spaull, Steve R, Knight, Bridget A, Flanagan, Sarah E, Shepherd, Maggie H, Andrews, Rob C, Hattersley, Andrew T

“…The incretin hormones glucagon‐like peptide‐1 (GLP‐1) and glucose‐dependent insulinotropic polypeptide (GIP), are thought to be the main drivers of insulin…”
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Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation by Chakera, Ali J, Steele, Anna M, Gloyn, Anna L, Shepherd, Maggie H, Shields, Beverley, Ellard, Sian, Hattersley, Andrew T

“…Glucokinase-maturity-onset diabetes of the young (GCK-MODY), also known as MODY2, is caused by heterozygous inactivating mutations in the GCK gene. GCK gene…”
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A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin by Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.

“…Aims/hypothesis Treatment change following a genetic diagnosis of MODY is frequently indicated, but little is known about the factors predicting future…”
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Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K by Pang, Lewis, Colclough, Kevin C, Shepherd, Maggie H, McLean, Joanne, Pearson, Ewan R, Ellard, Sian, Hattersley, Andrew T, Shields, Beverley M

“…Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes. In 2009, >80% of U.K. cases were estimated to be misdiagnosed. Since then,…”
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An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function by Cujba, Ana-Maria, Alvarez-Fallas, Mario E., Pedraza-Arevalo, Sergio, Laddach, Anna, Shepherd, Maggie H., Hattersley, Andrew T., Watt, Fiona M., Sancho, Rocio

“…The HNF1αp291fsinsC truncation is the most common mutation associated with maturity-onset diabetes of the young 3 (MODY3). Although shown to impair HNF1α…”
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Patient preference for second- and third-line therapies in type 2 diabetes: a prespecified secondary endpoint of the TriMaster study by Shields, Beverley M., Angwin, Catherine D., Shepherd, Maggie H., Britten, Nicky, Jones, Angus G., Sattar, Naveed, Holman, Rury, Pearson, Ewan R., Hattersley, Andrew T.

“…Patient preference is very important for medication selection in chronic medical conditions, like type 2 diabetes, where there are many different drugs…”
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Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing by Hughes, Alice E., Houghton, Jayne A. L., Bunce, Benjamin, Chakera, Ali J., Spyer, Gill, Shepherd, Maggie H., Flanagan, Sarah E., Hattersley, Andrew T.

“…Aims/hypothesis In pregnancies where the mother has glucokinase-MODY (GCK-MODY), fetal growth is determined by fetal genotype. When the fetus inherits a…”
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Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors by Oram, Richard A, McDonald, Timothy J, Shields, Beverley M, Hudson, Michelle M, Shepherd, Maggie H, Hammersley, Suzanne, Pearson, Ewan R, Hattersley, Andrew T

“…Small studies using ultrasensitive C-peptide assays suggest endogenous insulin secretion is frequently detectable in patients with long-standing type 1…”
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Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes by Bowman, Pamela, Mathews, Frances, Barbetti, Fabrizio, Shepherd, Maggie H, Sanchez, Janine, Piccini, Barbara, Beltrand, Jacques, Letourneau-Freiberg, Lisa R, Polak, Michel, Greeley, Siri Atma W, Rawlins, Eamon, Babiker, Tarig, Thomas, Nicholas J, De Franco, Elisa, Ellard, Sian, Flanagan, Sarah E, Hattersley, Andrew T

“…mutations cause neonatal diabetes mellitus that can be transient (TNDM) or, less commonly, permanent (PNDM); ∼90% of individuals can be treated with oral…”
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Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood by Edghill, Emma L, Flanagan, Sarah E, Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H, Hussain, Khalid, Kapoor, Ritika R, Malecki, Maciej, MacDonald, Michael J, Støy, Julie, Steiner, Donald F, Philipson, Louis H, Bell, Graeme I, Hattersley, Andrew T, Ellard, Sian

“…Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and…”
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Nurses’ strategies for overcoming barriers to fundamental nursing care in patients with COVID‐19 caused by infection with the SARS‐COV‐2 virus: Results from the ‘COVID‐NURSE’ survey by Sugg, Holly V. R., Richards, David A., Russell, Anne‐Marie, Burnett, Sarah, Cockcroft, Emma J., Thompson Coon, Jo, Cruickshank, Susanne, Doris, Faye E., Hunt, Harriet A., Iles‐Smith, Heather, Kent, Merryn, Logan, Philippa A., Morgan, Leila M., Morley, Naomi, Rafferty, Anne Marie, Shepherd, Maggie H., Singh, Sally J., Tooze, Susannah J., Whear, Rebecca

“…Aims To identify strategies used by registered nurses and non‐registered nursing care staff in overcoming barriers when providing fundamental nursing care for…”
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Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study by Locke, Jonathan M., Dusatkova, Petra, Colclough, Kevin, Hughes, Alice E., Dennis, John M., Shields, Beverley, Flanagan, Sarah E., Shepherd, Maggie H., Dempster, Emma L., Hattersley, Andrew T., Weedon, Michael N., Pruhova, Stepanka, Patel, Kashyap A.

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Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes by Bowman, Pamela, Day, Jacob, Torrens, Lorna, Shepherd, Maggie H, Knight, Bridget A, Ford, Tamsin J, Flanagan, Sarah E, Chakera, Ali, Hattersley, Andrew T, Zeman, Adam

“…Central nervous system (CNS) features in children with permanent neonatal diabetes (PNDM) due to mutations have a major impact on affected families…”
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Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia by Saukko, Paula M, Ellard, Sian, Richards, Suzanne H, Shepherd, Maggie H, Campbell, John L

“…UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common…”
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