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Journal Articles

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Thomas W. Laver, Matthew N. Wakeling, Olivia Knox, Kevin Colclough, Caroline F. Wright, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon, Kashyap A. Patel
Journal: Diabetes
Diabetes 2022;71(5):1128–1136
https://doi.org/10.2337/db21-0844
Published: 02 February 2022
View article titled, Evaluation of Evidence for Pathogenicity Demonstrates That <em>BLK</em>, <em>KLF11</em>, and <em>PAX4</em> Should Not Be Included in Diagnostic Testing for MODY
Open the PDF for Evaluation of Evidence for Pathogenicity Demonstrates That <em>BLK</em>, <em>KLF11</em>, and <em>PAX4</em> Should Not Be Included in Diagnostic Testing for MODY in another window
Journal Articles

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young

Kevin Colclough, Sian Ellard, Andrew Hattersley, Kashyap Patel
Journal: Diabetes
Diabetes 2022;71(3):530–537
https://doi.org/10.2337/db21-0517
Published: 17 November 2021
View article titled, Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young
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Journal Articles

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

Elisa De Franco, Richard Caswell, Matthew B. Johnson, Matthew N. Wakeling, Amnon Zung, Vũ Chí Dũng, Cấn Thị Bích Ngọc, Rajiv Goonetilleke, Maritza Vivanco Jury, Mohammed El-Khateeb, Sian Ellard, Sarah E. Flanagan, David Ron, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2020;69(3):477–483
https://doi.org/10.2337/db19-1029
Published: 27 December 2020
View article titled, De Novo Mutations in <em>EIF2B1</em> Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction
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Journal Articles

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

Matthew B. Johnson, Elisa De Franco, Siri Atma W. Greeley, Lisa R. Letourneau, Kathleen M. Gillespie, Matthew N. Wakeling, Sian Ellard, Sarah E. Flanagan, Kashyap A. Patel, Andrew T. Hattersley, International DS-PNDM Consortium, Miguel Angel De los Santos, Carlos Manuel Del Águila, Luis Rómulo de Lama, Oswaldo Nuñez, Eliana Manuela Chávez, Oscar Antonio Espinoza, Paola Marianella Pinto, Martha Rosario Calagua, Asma Deeb, Stephen M.P. O’Riordan, Semra Çetinkaya, Rebeka Ribicic, Gordana Stipancic, Christine Rodda, Leonard C. Harrison, Andrea Steck, Paul G. Voorhoeve, Mouza AlYahyaei, Aisha AlSinani, Hanan AlAzkawi, Mariyam AlBadi
Journal: Diabetes
Diabetes 2019;68(7):1528–1535
https://doi.org/10.2337/db19-0045
Published: 08 April 2019
View article titled, Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated
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Includes: Supplementary data
Journal Articles

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

Jonathan M. Locke, Cécile Saint-Martin, Thomas W. Laver, Kashyap A. Patel, Andrew R. Wood, Seth A. Sharp, Sian Ellard, Christine Bellanné-Chantelot, Andrew T. Hattersley, Lorna W. Harries, Michael N. Weedon
Journal: Diabetes
Diabetes 2018;67(9):1903–1907
https://doi.org/10.2337/db18-0133
Published: 12 June 2018
View article titled, The Common <em>HNF1A</em> Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY
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Journal Articles

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66: 2316–2322

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Zahra Razavi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan
Journal: Diabetes
Diabetes 2018;67(3):532
https://doi.org/10.2337/db18-er03b
Published: 05 January 2018
View article titled, Erratum. Recessively Inherited <em>LRBA</em> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66: 2316–2322
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Journal Articles

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Zahra Razavi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Ayla Güven, Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan
Journal: Diabetes
Diabetes 2017;66(8):2316–2322
https://doi.org/10.2337/db17-0040
Published: 04 May 2017
View article titled, Recessively Inherited <em>LRBA</em> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
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Includes: Supplementary data
Journal Articles

Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Elisa De Franco, Sarah E. Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B. Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2017;66(7):2044–2053
https://doi.org/10.2337/db16-1296
Published: 03 May 2017
View article titled, Dominant ER Stress–Inducing <em>WFS1</em> Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
Open the PDF for Dominant ER Stress–Inducing <em>WFS1</em> Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts in another window
Includes: Supplementary data
Journal Articles

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

Thomas W. Laver, Kevin Colclough, Maggie Shepherd, Kashyap Patel, Jayne A.L. Houghton, Petra Dusatkova, Stepanka Pruhova, Andrew D. Morris, Colin N. Palmer, Mark I. McCarthy, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon
Journal: Diabetes
Diabetes 2016;65(10):3212–3217
https://doi.org/10.2337/db16-0628
Published: 02 August 2016
View article titled, The Common p.R114W <em>HNF4A</em> Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
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Includes: Supplementary data
Journal Articles

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Jayne A.L. Houghton, Galvin H. Swift, Charles Shaw-Smith, Sarah E. Flanagan, Elisa de Franco, Richard Caswell, Khalid Hussain, Sarar Mohamed, Majedah Abdulrasoul, Andrew T. Hattersley, Raymond J. MacDonald, Sian Ellard
Journal: Diabetes
Diabetes 2016;65(9):2810–2815
https://doi.org/10.2337/db15-1666
Published: 09 June 2016
View article titled, Isolated Pancreatic Aplasia Due to a Hypomorphic <em>PTF1A</em> Mutation
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Journal Articles

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Kashyap A. Patel, Richard A. Oram, Sarah E. Flanagan, Elisa De Franco, Kevin Colclough, Maggie Shepherd, Sian Ellard, Michael N. Weedon, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2016;65(7):2094–2099
https://doi.org/10.2337/db15-1690
Published: 05 April 2016
View article titled, Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
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Includes: Supplementary data
Journal Articles

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Charles Shaw-Smith, Elisa De Franco, Hana Lango Allen, Marta Batlle, Sarah E. Flanagan, Maciej Borowiec, Craig E. Taplin, Janiëlle van Alfen-van der Velden, Jaime Cruz-Rojo, Guiomar Perez de Nanclares, Zosia Miedzybrodzka, Grazyna Deja, Iwona Wlodarska, Wojciech Mlynarski, Jorge Ferrer, Andrew T. Hattersley, Sian Ellard
Journal: Diabetes
Diabetes 2014;63(8):2888–2894
https://doi.org/10.2337/db14-0061
Published: 17 July 2014
View article titled, <em>GATA4</em> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
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Journal Articles

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Elisa De Franco, Charles Shaw-Smith, Sarah E. Flanagan, Maggie H. Shepherd, International NDM Consortium, Andrew T. Hattersley, Sian Ellard
Journal: Diabetes
Diabetes 2013;62(3):993–997
https://doi.org/10.2337/db12-0885
Published: 14 February 2013
View article titled, <em>GATA6</em> Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
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Includes: Supplementary data
Journal Articles

Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the KATP Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes

Roope Männikkö, Sarah E. Flanagan, Xiuli Sim, David Segal, Khalid Hussain, Sian Ellard, Andrew T. Hattersley, Frances M. Ashcroft
Journal: Diabetes
Diabetes 2011;60(6):1813–1822
https://doi.org/10.2337/db10-1583
Published: 21 May 2011
View article titled, Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K<sub>ATP</sub> Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes
Open the PDF for Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K<sub>ATP</sub> Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes in another window
Includes: Supplementary data
Journal Articles

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

Oscar Rubio-Cabezas, Jan N. Jensen, Maria I. Hodgson, Ethel Codner, Sian Ellard, Palle Serup, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2011;60(4):1349–1353
https://doi.org/10.2337/db10-1008
Published: 22 March 2011
View article titled, Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in <em>NEUROG3</em>
Open the PDF for Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in <em>NEUROG3</em> in another window
Includes: Supplementary data
Journal Articles

In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy

Philippa D. Powell, Christine Bellanné-Chantelot, Sarah E. Flanagan, Sian Ellard, Raoul Rooman, Khalid Hussain, Mars Skae, Peter Clayton, Pascale de Lonlay, Mark J. Dunne, Karen E. Cosgrove
Journal: Diabetes
Diabetes 2011;60(4):1223–1228
https://doi.org/10.2337/db10-1443
Published: 22 March 2011
View article titled, In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy
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Journal Articles

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

Oscar Rubio-Cabezas, Jayne A.L. Minton, Iren Kantor, Denise Williams, Sian Ellard, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2010;59(9):2326–2331
https://doi.org/10.2337/db10-0011
Published: 23 June 2010
View article titled, Homozygous Mutations in <em>NEUROD1</em> Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
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Includes: Supplementary data
Journal Articles

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

Hana Lango Allen, Stefan Johansson, Sian Ellard, Beverley Shields, Jens K. Hertel, Helge Ræder, Kevin Colclough, Anders Molven, Timothy M. Frayling, Pål R. Njølstad, Andrew T. Hattersley, Michael N. Weedon
Journal: Diabetes
Diabetes 2010;59(1):266–271
https://doi.org/10.2337/db09-0555
Published: 30 September 2009
View article titled, Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic <em>HNF1A</em> Diabetes
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Includes: Supplementary data
Journal Articles

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism

Sara G.I. Suliman, Juraj Stanik, Laura J. McCulloch, Natalie Wilson, Emma L. Edghill, Nadezda Misovicova, Daniela Gasperikova, Vilja Sandrikova, Katherine S. Elliott, Lubomir Barak, Sian Ellard, Emanuela V. Volpi, Iwar Klimes, Anna L. Gloyn
Journal: Diabetes
Diabetes 2009;58(12):2954–2961
https://doi.org/10.2337/db09-0787
Published: 31 August 2009
View article titled, Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for <em>INSR</em> and <em>CHN2</em>: <subtitle>New Insights Into Synergistic Pathways Involved in Growth and Metabolism</subtitle>
Open the PDF for Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for <em>INSR</em> and <em>CHN2</em>: <subtitle>New Insights Into Synergistic Pathways Involved in Growth and Metabolism</subtitle> in another window
Includes: Supplementary data
Journal Articles

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 Hyperglycemia in Humans

Daniela Gašperíková, Nicolas D. Tribble, Juraj Staník, Miroslava Hučková, Nadežda Mišovicová, Martijn van de Bunt, Lucia Valentínová, Beryl A. Barrow, L'ubomir Barák, Radoslav Dobránsky, Eva Bereczková, Jozef Michálek, Kate Wicks, Kevin Colclough, Julian C. Knight, Sian Ellard, Iwar Klimeš, Anna L. Gloyn
Journal: Diabetes
Diabetes 2009;58(8):1929–1935
https://doi.org/10.2337/db09-0070
Published: 01 May 2009
View article titled, Identification of a Novel β-Cell Glucokinase (<em>GCK</em>) Promoter Mutation (−71G&gt;C) That Modulates <em>GCK</em> Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
Open the PDF for Identification of a Novel β-Cell Glucokinase (<em>GCK</em>) Promoter Mutation (−71G>C) That Modulates <em>GCK</em> Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans in another window
Includes: Supplementary data