Skip to main content

Profile

Loading content
Dr Kash Patel

Dr Kash Patel

Wellcome Trust Fellow and Consultant in Diabetes & Endocrinology

 +44 1392 408237

 RILD Building 

 

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Overview

Kash Patel is a Wellcome Trust Career Development Fellow and Consultant Physician in Diabetes and Endocrinology. His main area of research includes understanding the genetics of diabetes with a focus on Monogenic and Type 1 diabetes. His research uses next-generation sequencing technology and large data sets to improve diagnosis and understanding of monogenic diabetes in humans. He was a Wellcome Trust PhD Research Fellow in prestigious MRC Protein Phosphorylation Unit in Dundee where he was awarded his PhD studying the glucose metabolism in the liver. After his PhD, he obtained Wellcome Trust Postdoctoral Fellowship to study monogenic diabetes in Exeter with by Professor Andrew Hattersley and Professor Sian Ellard. He is the recipient of prestigious Young Investigator awards from Diabetes UK and EASD-SGGD for his work in monogenic diabetes.

Qualifications

MBBS, MRCP, PhD

Links

Research

Research interests

Dr Patel presents his research into identifying new genes that can cause young onset monogenic diabetes (diabetes caused by a defect in a single gene) in the video below. This talk was recorded at the Living Systems Institute Research Symposium in March 2016.

Publications

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Colclough K, van Heugten R, Patel K (2022). An update on the diagnosis and management of monogenic diabetes. Practical Diabetes, 39(4), 42-48. Abstract.
Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, et al (2022). Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study. Diabetologia, 65(1), 246-249. Author URL.
Besci Ö, Patel KA, Yıldız G, Tüfekçi Ö, Acinikli KY, Erbaş İM, Abacı A, Böber E, Bayram MT, Yılmaz Ş, et al (2022). Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder. Hormones (Athens), 21(3), 501-506. Abstract.  Author URL.
Wyatt RC, Hagopian WA, Roep BO, Patel KA, Resnick B, Dobbs R, Hudson M, EXE-T1D Consortium, De Franco E, Ellard S, et al (2022). Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes. Diabetologia, 65(7), 1179-1184. Abstract.  Author URL.
Laver TW, Wakeling MN, Knox O, Colclough K, Wright CF, Ellard S, Hattersley AT, Weedon MN, Patel KA (2022). Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not be Included in Diagnostic Testing for MODY. Diabetes, 71(5), 1128-1136. Abstract.  Author URL.
Mirshahi UL, Bhan A, Tholen LE, Fang B, Chen G, Moore B, Cook A, Anand PM, Patel K, Haas ME, et al (2022). Framework from a Multidisciplinary Approach for Transitioning Variants of Unknown Significance from Clinical Genetic Testing in Kidney Disease to a Definitive Classification. Kidney International Reports, 7(9), 2047-2058. Abstract.
Colclough K, Patel K (2022). How do I diagnose Maturity Onset Diabetes of the Young in my patients?. Clin Endocrinol (Oxf), 97(4), 436-447. Abstract.  Author URL.
Grace SL, Bowden J, Walkey HC, Kaur A, Misra S, Shields BM, McKinley TJ, Oliver NS, McDonald T, Johnston DG, et al (2022). Islet autoantibody level distribution in type 1 diabetes and their association with genetic and clinical characteristics. J Clin Endocrinol Metab Abstract.  Author URL.
Ikaheimo K, Herranen A, Iivanainen V, Lankinen T, Aarnisalo AA, Sivonen V, Patel KA, Demir K, Saarma M, Lindahl M, et al (2022). MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea. LIFE SCIENCE ALLIANCE, 5(2). Author URL.
Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN (2022). PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile. J Clin Endocrinol Metab, 107(6), e2318-e2323. Abstract.  Author URL.
Colclough K, Patel K (2022). Response to Comment on Colclough et al. and Saint-Martin et al. Syndromic Monogenic Diabetes Genes Should be Tested in Patients with a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes 2022;71:530–537, and Gene Panel Sequencing of Patients with Monogenic Diabetes Brings to Light Genes Typically Associated with Syndromic Presentations. Diabetes 2022;71:578–584. Diabetes, 71(9), e11-e12.
Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2022). SavvyCNV: Genome-wide CNV calling from off-target reads. PLOS Computational Biology, 18(3), e1009940-e1009940. Abstract.
Colclough K, Ellard S, Hattersley A, Patel K (2022). Syndromic Monogenic Diabetes Genes Should be Tested in Patients with a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes, 71(3), 530-537. Abstract.  Author URL.
Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Colclough K, Houghton J, et al (2022). Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics. Diabetologia, 65(2), 336-342. Abstract.  Author URL.
Hewat TI, Yau D, Jerome JCS, Laver TW, Houghton JAL, Shields BM, Flanagan SE, Patel KA (2021). Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11. European Journal of Endocrinology, 185(6), 813-818. Abstract.
Thomas NJ, Dennis JM, Sharp SA, Kaur A, Misra S, Walkey HC, Johnston DG, Oliver NS, Hagopian WA, Weedon MN, et al (2021). Correction to: DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life. Diabetologia, 65(1), 258-258.
Thomas NJ, Dennis JM, Sharp SA, Kaur A, Misra S, Walkey HC, Johnston DG, Oliver NS, Hagopian WA, Weedon MN, et al (2021). DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life. Diabetologia, 64(10), 2258-2265. Abstract.  Author URL.
Montaser H, Patel KA, Balboa D, Ibrahim H, Lithovius V, Näätänen A, Chandra V, Demir K, Acar S, Ben-Omran T, et al (2021). Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress. Diabetes, 70(4), 1006-1018. Abstract.  Author URL.
Johnson MB, Hattersley AT, Patel KA (2021). More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition. N Engl J Med, 384(1). Author URL.
Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA, et al (2021). The absence of islet autoantibodies in clinically diagnosed older-adult onset type 1 diabetes suggests an alternative pathology, advocating for routine testing in this age group. Medrxiv Abstract.
Dennis JM, Mateen BA, Sonabend R, Thomas NJ, Patel KA, Hattersley AT, Denaxas S, McGovern AP, Vollmer SJ (2021). Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: a National Cohort Study in England, March-July 2020. Diabetes Care, 44(1), 50-57. Abstract.  Author URL.
Weedon MN, Wright CF, Patel KA, Frayling TM (2021). Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R. Cell, 184(7). Author URL.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Res, 5 Abstract.  Author URL.
Ellard S, Colclough K, Patel KA, Hattersley AT (2020). Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. J Clin Invest, 130(1), 14-16. Author URL.
Leete P, Oram RA, McDonald TJ, Shields BM, Ziller C, TIGI study team, Hattersley AT, Richardson SJ, Morgan NG (2020). Studies of insulin and proinsulin in pancreas and serum support the existence of aetiopathological endotypes of type 1 diabetes associated with age at diagnosis. Diabetologia, 63(6), 1258-1267. Abstract.  Author URL.
Novak A, Bowman P, Kraljevic I, Tripolski M, Houghton JAL, De Franco E, Shepherd MH, Skrabic V, Patel KA (2020). Transient Neonatal Diabetes: an Etiologic Clue for the Adult Diabetologist. Can J Diabetes, 44(2), 128-130. Author URL.
Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, et al (2020). Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells. Diabetologia, 63(12), 2605-2615. Abstract.  Author URL.
Harrison JW, Tallapragada DSP, Baptist A, Sharp SA, Bhaskar S, Jog KS, Patel KA, Weedon MN, Chandak GR, Yajnik CS, et al (2020). Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India. Sci Rep, 10(1). Abstract.  Author URL.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, et al (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. J Clin Invest, 130(12), 6338-6353. Abstract.  Author URL.
Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, et al (2019). Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. Am J Hum Genet, 104(2), 275-286. Abstract.  Author URL.
Bowman P, McDonald TJ, Knight BA, Flanagan SE, Leveridge M, Spaull SR, Shields BM, Hammersley S, Shepherd MH, Andrews RC, et al (2019). Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways. BMJ Open Diabetes Res Care, 7(1). Abstract.  Author URL.
Laver TW, De Franco E, Johnson MB, Patel K, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2019). SavvyCNV: genome-wide CNV calling from off-target reads. BioRxiv Abstract.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM, International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes That is Autoimmune but Not HLA Associated. Diabetes, 68(7), 1528-1535. Abstract.  Author URL.
Yaghootkar H, Abbasi F, Ghaemi N, Rabbani A, Wakeling MN, Eshraghi P, Enayati S, Vakili S, Heidari S, Patel K, et al (2019). Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population. Diabet Med, 36(12), 1694-1702. Abstract.  Author URL.
Patel KA, Knight B, Aziz A, Babiker T, Tamar A, Findlay J, Cox S, Dimitropoulos I, Tysoe C, Panicker V, et al (2019). Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy. Clin Endocrinol (Oxf), 90(2), 328-333. Abstract.  Author URL.
Patel KA, Weedon MN, Shields BM, Pearson ER, Hattersley AT, McDonald TJ, UNITED study team (2019). Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score can Exclude Individuals with Type 1 Diabetes from Inappropriate Genetic Testing for Monogenic Diabetes. Diabetes Care, 42(2), e16-e17. Author URL.
Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA, UNITED study (2018). A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin. Diabetologia, 61(12), 2520-2527. Abstract.  Author URL.
Johnson MB, Patel KA, De Franco E, Houghton JAL, McDonald TJ, Ellard S, Flanagan SE, Hattersley AT (2018). A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes. Diabetologia, 61(4), 862-869. Abstract.  Author URL.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, et al (2018). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol, 6(8), 637-646. Abstract.  Author URL.
Cameron AR, Logie L, Patel K, Erhardt S, Bacon S, Middleton P, Harthill J, Forteath C, Coats JT, Kerr C, et al (2018). Metformin selectively targets redox control of complex I energy transduction. Redox Biol, 14, 187-197. Abstract.  Author URL.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, et al (2018). PLIN1 Haploinsufficiency is Not Associated with Lipodystrophy. J Clin Endocrinol Metab, 103(9), 3225-3230. Abstract.  Author URL.
Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, et al (2018). The Common HNF1A Variant I27L is a Modifier of Age at Diabetes Diagnosis in Individuals with HNF1A-MODY. Diabetes, 67(9), 1903-1907. Abstract.  Author URL.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.
Day JO, Flanagan SE, Shepherd MH, Patrick AW, Abid N, Torrens L, Zeman AJ, Patel KA, Hattersley AT (2017). Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabet Med, 34(7), 1000-1004. Abstract.  Author URL.
Patel KA, Warren R, Brooke A, Aziz A, Avades T, Poyner R, Vaidya B (2017). Interpretation of thyroid scintigraphy is inconsistent among endocrinologists. J Endocrinol Invest, 40(10), 1155-1157. Author URL.
Hattersley AT, Patel KA (2017). Precision diabetes: learning from monogenic diabetes. Diabetologia, 60(5), 769-777. Abstract.  Author URL.
Oram RA, Patel K, Hill A, Shields B, McDonald TJ, Jones A, Hattersley AT, Weedon MN (2016). A Type 1 Diabetes Genetic Risk Score can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care, 39(3), 337-344. Abstract.  Author URL.
Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, et al (2016). Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia, 59(7), 1463-1473. Abstract.  Author URL.
Cameron AR, Logie L, Patel K, Bacon S, Forteath C, Harthill J, Roberts A, Sutherland C, Stewart D, Viollet B, et al (2016). Investigation of salicylate hepatic responses in comparison with chemical analogues of the drug. Biochim Biophys Acta, 1862(8), 1412-1422. Abstract.  Author URL.
Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, et al (2016). Prospective functional classification of all possible missense variants in PPARG. Nat Genet, 48(12), 1570-1575. Abstract.  Author URL.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Abstract.  Author URL.
Patel K, Foretz M, Marion A, Campbell DG, Gourlay R, Boudaba N, Tournier E, Titchenell P, Peggie M, Deak M, et al (2014). The LKB1-salt-inducible kinase pathway functions as a key gluconeogenic suppressor in the liver. Nat Commun, 5 Abstract.  Author URL.
von Wilamowitz-Moellendorff A, Hunter RW, García-Rocha M, Kang L, López-Soldado I, Lantier L, Patel K, Peggie MW, Martínez-Pons C, Voss M, et al (2013). Glucose-6-phosphate-mediated activation of liver glycogen synthase plays a key role in hepatic glycogen synthesis. Diabetes, 62(12), 4070-4082. Abstract.  Author URL.
Logie L, Harthill J, Patel K, Bacon S, Hamilton DL, Macrae K, McDougall G, Wang H-H, Xue L, Jiang H, et al (2012). Cellular responses to the metal-binding properties of metformin. Diabetes, 61(6), 1423-1433. Abstract.  Author URL.
Henriksson E, Jones HA, Patel K, Peggie M, Morrice N, Sakamoto K, Göransson O (2012). The AMPK-related kinase SIK2 is regulated by cAMP via phosphorylation at Ser358 in adipocytes. Biochem J, 444(3), 503-514. Abstract.  Author URL.
Gajjar K, Patel K, Rao CA (2011). Thyroid disease in pregnancy. The Obstetrician & Gynaecologist, 11(2), 150-151.

Publications by year


2022

Colclough K, van Heugten R, Patel K (2022). An update on the diagnosis and management of monogenic diabetes. Practical Diabetes, 39(4), 42-48. Abstract.
Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, et al (2022). Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study. Diabetologia, 65(1), 246-249. Author URL.
Besci Ö, Patel KA, Yıldız G, Tüfekçi Ö, Acinikli KY, Erbaş İM, Abacı A, Böber E, Bayram MT, Yılmaz Ş, et al (2022). Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder. Hormones (Athens), 21(3), 501-506. Abstract.  Author URL.
Wyatt RC, Hagopian WA, Roep BO, Patel KA, Resnick B, Dobbs R, Hudson M, EXE-T1D Consortium, De Franco E, Ellard S, et al (2022). Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes. Diabetologia, 65(7), 1179-1184. Abstract.  Author URL.
Laver TW, Wakeling MN, Knox O, Colclough K, Wright CF, Ellard S, Hattersley AT, Weedon MN, Patel KA (2022). Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not be Included in Diagnostic Testing for MODY. Diabetes, 71(5), 1128-1136. Abstract.  Author URL.
Mirshahi UL, Bhan A, Tholen LE, Fang B, Chen G, Moore B, Cook A, Anand PM, Patel K, Haas ME, et al (2022). Framework from a Multidisciplinary Approach for Transitioning Variants of Unknown Significance from Clinical Genetic Testing in Kidney Disease to a Definitive Classification. Kidney International Reports, 7(9), 2047-2058. Abstract.
Ruth KS, Beaumont RN, Locke JM, Tyrrell J, Crandall CJ, Hawkes G, Frayling TM, Prague JK, Patel KA, Wood AR, et al (2022). Genomic insights into the mechanism of NK3R antagonists for treatment of menopausal vasomotor symptoms.
Colclough K, Patel K (2022). How do I diagnose Maturity Onset Diabetes of the Young in my patients?. Clin Endocrinol (Oxf), 97(4), 436-447. Abstract.  Author URL.
Grace SL, Bowden J, Walkey HC, Kaur A, Misra S, Shields BM, McKinley TJ, Oliver NS, McDonald T, Johnston DG, et al (2022). Islet autoantibody level distribution in type 1 diabetes and their association with genetic and clinical characteristics. J Clin Endocrinol Metab Abstract.  Author URL.
Ikaheimo K, Herranen A, Iivanainen V, Lankinen T, Aarnisalo AA, Sivonen V, Patel KA, Demir K, Saarma M, Lindahl M, et al (2022). MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea. LIFE SCIENCE ALLIANCE, 5(2). Author URL.
Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN (2022). PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile. J Clin Endocrinol Metab, 107(6), e2318-e2323. Abstract.  Author URL.
Colclough K, Patel K (2022). Response to Comment on Colclough et al. and Saint-Martin et al. Syndromic Monogenic Diabetes Genes Should be Tested in Patients with a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes 2022;71:530–537, and Gene Panel Sequencing of Patients with Monogenic Diabetes Brings to Light Genes Typically Associated with Syndromic Presentations. Diabetes 2022;71:578–584. Diabetes, 71(9), e11-e12.
Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2022). SavvyCNV: Genome-wide CNV calling from off-target reads. PLOS Computational Biology, 18(3), e1009940-e1009940. Abstract.
Colclough K, Ellard S, Hattersley A, Patel K (2022). Syndromic Monogenic Diabetes Genes Should be Tested in Patients with a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes, 71(3), 530-537. Abstract.  Author URL.
Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Colclough K, Houghton J, et al (2022). Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics. Diabetologia, 65(2), 336-342. Abstract.  Author URL.

2021

Wakeling M, Owens N, Hopkinson J, Johnson M, Houghton JAL, Dastamani A, Flaxman C, Wyatt R, Hewat T, Hopkins J, et al (2021). A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling <i>HK1</i>.  Abstract.
Hewat TI, Yau D, Jerome JCS, Laver TW, Houghton JAL, Shields BM, Flanagan SE, Patel KA (2021). Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11. European Journal of Endocrinology, 185(6), 813-818. Abstract.
Thomas NJ, Dennis JM, Sharp SA, Kaur A, Misra S, Walkey HC, Johnston DG, Oliver NS, Hagopian WA, Weedon MN, et al (2021). Correction to: DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life. Diabetologia, 65(1), 258-258.
Thomas NJ, Dennis JM, Sharp SA, Kaur A, Misra S, Walkey HC, Johnston DG, Oliver NS, Hagopian WA, Weedon MN, et al (2021). DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life. Diabetologia, 64(10), 2258-2265. Abstract.  Author URL.
Grace SL, Bowden J, Walkey HC, Kaur A, Misra S, Shields BM, McKinley TJ, Oliver NS, McDonald T, Johnston DG, et al (2021). Islet autoantibody level distributions in type 1 diabetes and their association with genetic and clinical characteristics.
Montaser H, Patel KA, Balboa D, Ibrahim H, Lithovius V, Näätänen A, Chandra V, Demir K, Acar S, Ben-Omran T, et al (2021). Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress. Diabetes, 70(4), 1006-1018. Abstract.  Author URL.
Johnson MB, Hattersley AT, Patel KA (2021). More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition. N Engl J Med, 384(1). Author URL.
Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA, et al (2021). The Absence of Islet Autoantibodies in Clinically Diagnosed Older-Adult Onset Type 1 Diabetes Suggests an Alternative Pathology, Advocating for Routine Testing in This Age Group.
Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA, et al (2021). The absence of islet autoantibodies in clinically diagnosed older-adult onset type 1 diabetes suggests an alternative pathology, advocating for routine testing in this age group. Medrxiv Abstract.
Dennis JM, Mateen BA, Sonabend R, Thomas NJ, Patel KA, Hattersley AT, Denaxas S, McGovern AP, Vollmer SJ (2021). Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: a National Cohort Study in England, March-July 2020. Diabetes Care, 44(1), 50-57. Abstract.  Author URL.
Weedon MN, Wright CF, Patel KA, Frayling TM (2021). Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R. Cell, 184(7). Author URL.

2020

Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Res, 5 Abstract.  Author URL.
Dennis JM, Mateen BA, Sonabend R, Thomas NJ, Patel KA, Hattersley AT, Denaxas S, McGovern AP, Vollmer SJ (2020). Diabetes and COVID-19 Related Mortality in the Critical Care Setting: a Real-Time National Cohort Study in England.
Ellard S, Colclough K, Patel KA, Hattersley AT (2020). Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. J Clin Invest, 130(1), 14-16. Author URL.
Leete P, Oram RA, McDonald TJ, Shields BM, Ziller C, TIGI study team, Hattersley AT, Richardson SJ, Morgan NG (2020). Studies of insulin and proinsulin in pancreas and serum support the existence of aetiopathological endotypes of type 1 diabetes associated with age at diagnosis. Diabetologia, 63(6), 1258-1267. Abstract.  Author URL.
Novak A, Bowman P, Kraljevic I, Tripolski M, Houghton JAL, De Franco E, Shepherd MH, Skrabic V, Patel KA (2020). Transient Neonatal Diabetes: an Etiologic Clue for the Adult Diabetologist. Can J Diabetes, 44(2), 128-130. Author URL.
Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, et al (2020). Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells. Diabetologia, 63(12), 2605-2615. Abstract.  Author URL.
Harrison JW, Tallapragada DSP, Baptist A, Sharp SA, Bhaskar S, Jog KS, Patel KA, Weedon MN, Chandak GR, Yajnik CS, et al (2020). Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India. Sci Rep, 10(1). Abstract.  Author URL.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, et al (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. J Clin Invest, 130(12), 6338-6353. Abstract.  Author URL.

2019

Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, et al (2019). Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. Am J Hum Genet, 104(2), 275-286. Abstract.  Author URL.
Bowman P, McDonald TJ, Knight BA, Flanagan SE, Leveridge M, Spaull SR, Shields BM, Hammersley S, Shepherd MH, Andrews RC, et al (2019). Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways. BMJ Open Diabetes Res Care, 7(1). Abstract.  Author URL.
Laver TW, De Franco E, Johnson MB, Patel K, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2019). SavvyCNV: genome-wide CNV calling from off-target reads. BioRxiv Abstract.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM, International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes That is Autoimmune but Not HLA Associated. Diabetes, 68(7), 1528-1535. Abstract.  Author URL.
Yaghootkar H, Abbasi F, Ghaemi N, Rabbani A, Wakeling MN, Eshraghi P, Enayati S, Vakili S, Heidari S, Patel K, et al (2019). Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population. Diabet Med, 36(12), 1694-1702. Abstract.  Author URL.
Patel KA, Knight B, Aziz A, Babiker T, Tamar A, Findlay J, Cox S, Dimitropoulos I, Tysoe C, Panicker V, et al (2019). Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy. Clin Endocrinol (Oxf), 90(2), 328-333. Abstract.  Author URL.
Patel KA, Weedon MN, Shields BM, Pearson ER, Hattersley AT, McDonald TJ, UNITED study team (2019). Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score can Exclude Individuals with Type 1 Diabetes from Inappropriate Genetic Testing for Monogenic Diabetes. Diabetes Care, 42(2), e16-e17. Author URL.

2018

Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA, UNITED study (2018). A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin. Diabetologia, 61(12), 2520-2527. Abstract.  Author URL.
Johnson MB, Patel KA, De Franco E, Houghton JAL, McDonald TJ, Ellard S, Flanagan SE, Hattersley AT (2018). A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes. Diabetologia, 61(4), 862-869. Abstract.  Author URL.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, et al (2018). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol, 6(8), 637-646. Abstract.  Author URL.
Cameron AR, Logie L, Patel K, Erhardt S, Bacon S, Middleton P, Harthill J, Forteath C, Coats JT, Kerr C, et al (2018). Metformin selectively targets redox control of complex I energy transduction. Redox Biol, 14, 187-197. Abstract.  Author URL.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, et al (2018). PLIN1 Haploinsufficiency is Not Associated with Lipodystrophy. J Clin Endocrinol Metab, 103(9), 3225-3230. Abstract.  Author URL.
Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, et al (2018). The Common HNF1A Variant I27L is a Modifier of Age at Diabetes Diagnosis in Individuals with HNF1A-MODY. Diabetes, 67(9), 1903-1907. Abstract.  Author URL.

2017

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.
Day JO, Flanagan SE, Shepherd MH, Patrick AW, Abid N, Torrens L, Zeman AJ, Patel KA, Hattersley AT (2017). Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabet Med, 34(7), 1000-1004. Abstract.  Author URL.
Patel KA, Warren R, Brooke A, Aziz A, Avades T, Poyner R, Vaidya B (2017). Interpretation of thyroid scintigraphy is inconsistent among endocrinologists. J Endocrinol Invest, 40(10), 1155-1157. Author URL.
Hattersley AT, Patel KA (2017). Precision diabetes: learning from monogenic diabetes. Diabetologia, 60(5), 769-777. Abstract.  Author URL.

2016

Oram RA, Patel K, Hill A, Shields B, McDonald TJ, Jones A, Hattersley AT, Weedon MN (2016). A Type 1 Diabetes Genetic Risk Score can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care, 39(3), 337-344. Abstract.  Author URL.
Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, et al (2016). Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia, 59(7), 1463-1473. Abstract.  Author URL.
Cameron AR, Logie L, Patel K, Bacon S, Forteath C, Harthill J, Roberts A, Sutherland C, Stewart D, Viollet B, et al (2016). Investigation of salicylate hepatic responses in comparison with chemical analogues of the drug. Biochim Biophys Acta, 1862(8), 1412-1422. Abstract.  Author URL.
Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, et al (2016). Prospective functional classification of all possible missense variants in PPARG. Nat Genet, 48(12), 1570-1575. Abstract.  Author URL.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Abstract.  Author URL.

2014

Patel K, Foretz M, Marion A, Campbell DG, Gourlay R, Boudaba N, Tournier E, Titchenell P, Peggie M, Deak M, et al (2014). The LKB1-salt-inducible kinase pathway functions as a key gluconeogenic suppressor in the liver. Nat Commun, 5 Abstract.  Author URL.

2013

von Wilamowitz-Moellendorff A, Hunter RW, García-Rocha M, Kang L, López-Soldado I, Lantier L, Patel K, Peggie MW, Martínez-Pons C, Voss M, et al (2013). Glucose-6-phosphate-mediated activation of liver glycogen synthase plays a key role in hepatic glycogen synthesis. Diabetes, 62(12), 4070-4082. Abstract.  Author URL.

2012

Logie L, Harthill J, Patel K, Bacon S, Hamilton DL, Macrae K, McDougall G, Wang H-H, Xue L, Jiang H, et al (2012). Cellular responses to the metal-binding properties of metformin. Diabetes, 61(6), 1423-1433. Abstract.  Author URL.
Henriksson E, Jones HA, Patel K, Peggie M, Morrice N, Sakamoto K, Göransson O (2012). The AMPK-related kinase SIK2 is regulated by cAMP via phosphorylation at Ser358 in adipocytes. Biochem J, 444(3), 503-514. Abstract.  Author URL.

2011

Gajjar K, Patel K, Rao CA (2011). Thyroid disease in pregnancy. The Obstetrician & Gynaecologist, 11(2), 150-151.

Kashyap_Patel Details from cache as at 2022-10-07 14:41:31

Refresh publications

Teaching

Supervision / Group

Back | Edit Profile