Full Text Journal Articles by
Author Kashyap A Patel

Advertisement

Find full text journal articles








Correction to: DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life.

Nicholas J Thomas, John M Dennis, Seth A Sharp, Akaal Kaur, Shivani Misra, Helen C Walkey, Desmond G Johnston, Nick S Oliver, William A Hagopian, Michael N Weedon, Kashyap A Patel, Richard A Oram,

Diabetologia (Diabetologia)
[2022, 65(1):258]

Cited: 0 times

View full text PDF listing >>



Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.

Jonathan M Locke, Petra Dusatkova, Kevin Colclough, Alice E Hughes, John M Dennis, Beverley Shields, Sarah E Flanagan, Maggie H Shepherd, Emma L Dempster, Andrew T Hattersley, Michael N Weedon, Stepanka Pruhova, Kashyap A Patel,

Diabetologia (Diabetologia)
[2022, 65(1):246-249]

Cited: 0 times

View full text PDF listing >>



Advertisement

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea.

Kuu Ikäheimo, Anni Herranen, Vilma Iivanainen, Tuuli Lankinen, Antti A Aarnisalo, Ville Sivonen, Kashyap A Patel, Korcan Demir, Mart Saarma, Maria Lindahl, Ulla Pirvola,

Failure in the structural maintenance of the hair cell stereocilia bundle and ribbon synapse causes hearing loss. Here, we have studied how ER stress elicits hair cell pathology, using mouse models with inactivation of <i>Manf</i> (mesencephalic astrocyte-derived neurotrophic factor), encoding an ER-homeostasis-promoting protein. From hearing onset, <i>Manf</i> deficiency caused disarray ... Read more >>

Life Sci Alliance (Life science alliance)
[2022, 5(2):]

Cited: 0 times

View full text PDF listing >>



Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Kashyap A Patel, Mehmet N Ozbek, Melek Yildiz, Tulay Guran, Cemil Kocyigit, Sezer Acar, Zeynep Siklar, Muge Atar, Kevin Colclough, Jayne Houghton, Matthew B Johnson, Sian Ellard, Sarah E Flanagan, Filiz Cizmecioglu, Merih Berberoglu, Korcan Demir, Gonul Catli, Serpil Bas, Teoman Akcay, Huseyin Demirbilek, Michael N Weedon, Andrew T Hattersley,

<h4>Aims/hypothesis</h4>Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We ... Read more >>

Diabetologia (Diabetologia)
[2022, 65(2):336-342]

Cited: 0 times

View full text PDF listing >>



Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.

Thomas I Hewat, Daphne Yau, Joseph C S Jerome, Thomas W Laver, Jayne A L Houghton, Beverley M Shields, Sarah E Flanagan, Kashyap A Patel,

Objective Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. We aimed to determine the clinical features that help to identify KATP-hyperinsulinism at diagnosis. Design We studied 761 individuals ... Read more >>

Eur J Endocrinol (European journal of endocrinology)
[2021, :]

Cited: 0 times

View full text PDF listing >>



DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life.

Nicholas J Thomas, John M Dennis, Seth A Sharp, Akaal Kaur, Shivani Misra, Helen C Walkey, Desmond G Johnston, Nick S Oliver, William A Hagopian, Michael N Weedon, Kashyap A Patel, Richard A Oram,

<h4>Aims/hypothesis</h4>Among white European children developing type 1 diabetes, the otherwise common HLA haplotype DR15-DQ6 is rare, and highly protective. Adult-onset type 1 diabetes is now known to represent more overall cases than childhood onset, but it is not known whether DR15-DQ6 is protective in older-adult-onset type 1 diabetes. We sought ... Read more >>

Diabetologia (Diabetologia)
[2021, 64(10):2258-2265]

Cited: 0 times

View full text PDF listing >>



Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases.

Zeynep Şıklar, Tuğba Kontbay, Kevin Colclough, Kashyap A Patel, Merih Berberoğlu,

The tRNA methyltransferase 10 homologue A (<i>TRMT10A</i>) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including microcephaly was admitted. She was diagnosed with epilepsy at 2.5 ... Read more >>

J Clin Res Pediatr Endocrinol (Journal of clinical research in pediatric endocrinology)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.

Michael N Weedon, Caroline F Wright, Kashyap A Patel, Timothy M Frayling,

Cell (Cell)
[2021, 184(7):1651]

Cited: 0 times

View full text PDF listing >>



Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.

Hossam Montaser, Kashyap A Patel, Diego Balboa, Hazem Ibrahim, Väinö Lithovius, Anna Näätänen, Vikash Chandra, Korcan Demir, Sezer Acar, Tawfeg Ben-Omran, Kevin Colclough, Jonathan M Locke, Matthew Wakeling, Maria Lindahl, Andrew T Hattersley, Jonna Saarimäki-Vire, Timo Otonkoski,

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and function of mouse β-cells, its precise role in human β-cell development and function is unknown. In this study, we show that ... Read more >>

Diabetes (Diabetes)
[2021, 70(4):1006-1018]

Cited: 10 times

View full text PDF listing >>



All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes.

Alice E Hughes, M Geoffrey Hayes, Aoife M Egan, Kashyap A Patel, Denise M Scholtens, Lynn P Lowe, William L Lowe, Fidelma P Dunne, Andrew T Hattersley, Rachel M Freathy,

Background: Using genetic scores for fasting plasma glucose (FPG GS) and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from the WHO 2013 criteria for gestational diabetes (GDM) have different implications for genetic susceptibility to raised fasting glucose and type 2 diabetes in ... Read more >>

Wellcome Open Res (Wellcome open research)
[2020, 5:175]

Cited: 0 times

View full text PDF listing >>



Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020.

John M Dennis, Bilal A Mateen, Raphael Sonabend, Raphael Sonabend, Nicholas J Thomas, Kashyap A Patel, Andrew T Hattersley, Spiros Denaxas, Spiros Denaxas, Andrew P McGovern, Sebastian J Vollmer,

<h4>Objective</h4>To describe the relationship between type 2 diabetes and all-cause mortality among adults with coronavirus disease 2019 (COVID-19) in the critical care setting.<h4>Research design and methods</h4>This was a nationwide retrospective cohort study in people admitted to hospital in England with COVID-19 requiring admission to a high dependency unit (HDU) or ... Read more >>

Diabetes Care (Diabetes care)
[2021, 44(1):50-57]

Cited: 35 times

View full text PDF listing >>



Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.

Matthew B Johnson, Kashyap A Patel, Elisa De Franco, William Hagopian, Michael Killian, Timothy J McDonald, Timothy I M Tree, Clara Domingo-Vila, Michelle Hudson, Suzanne Hammersley, Rebecca Dobbs, , Sian Ellard, Sarah E Flanagan, Andrew T Hattersley, Richard A Oram,

<h4>Aims/hypothesis</h4>Diabetes diagnosed at <6 months of age is usually monogenic. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. We characterised infants diagnosed at <6 months of age without a pathogenic variant to assess whether polygenic type 1 diabetes could arise ... Read more >>

Diabetologia (Diabetologia)
[2020, 63(12):2605-2615]

Cited: 3 times

View full text PDF listing >>



Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India.

James W Harrison, Divya Sri Priyanka Tallapragada, Alma Baptist, Seth A Sharp, Seema Bhaskar, Kalpana S Jog, Kashyap A Patel, Michael N Weedon, Giriraj R Chandak, Chittaranjan S Yajnik, Richard A Oram,

Type 1 diabetes (T1D) is a significant problem in Indians and misclassification of T1D and type 2 diabetes (T2D) is a particular problem in young adults in this population due to the high prevalence of early onset T2D at lower BMI. We have previously shown a genetic risk score (GRS) ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):9450]

Cited: 4 times

View full text PDF listing >>



Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.

Sian Ellard, Kevin Colclough, Kashyap A Patel, Andrew T Hattersley,

J Clin Invest (The Journal of clinical investigation)
[2020, 130(1):14-16]

Cited: 7 times

View full text PDF listing >>



Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways.

Pamela Bowman, Timothy J McDonald, Bridget A Knight, Sarah E Flanagan, Maria Leveridge, Steve R Spaull, Beverley M Shields, Suzanne Hammersley, Maggie H Shepherd, Robert C Andrews, Kashyap A Patel, Andrew T Hattersley,

<h4>Objective</h4>Insulin secretion in sulfonylurea-treated <i>KCNJ11</i> permanent neonatal diabetes mellitus (PNDM) is thought to be mediated predominantly through amplifying non-K<sub>ATP</sub>-channel pathways such as incretins. Affected individuals report symptoms of postprandial hypoglycemia after eating protein/fat-rich foods. We aimed to assess the physiological response to carbohydrate and protein/fat in people with sulfonylurea-treated <i>KCNJ11</i> ... Read more >>

BMJ Open Diabetes Res Care (BMJ open diabetes research & care)
[2019, 7(1):e000721]

Cited: 3 times

View full text PDF listing >>



Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.

Kashyap A Patel, Bridget Knight, Aftab Aziz, Tarig Babiker, Avades Tamar, Joanna Findlay, Sue Cox, Ioannis Dimitropoulos, Carolyn Tysoe, Vijay Panicker, Bijay Vaidya,

<h4>Objective</h4>Patients with hyperthyroidism lacking autoimmune features but showing diffuse uptake on thyroid scintigram can have either Graves' disease or germline activating TSH receptor (TSHR) mutation. It is important to identify patients with activating TSHR mutation due to treatment implication, but the overlapping clinical features with Graves' disease make it difficult ... Read more >>

Clin Endocrinol (Oxf) (Clinical endocrinology)
[2019, 90(2):328-333]

Cited: 1 time

View full text PDF listing >>



Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist.

Anela Novak, Pamela Bowman, Ivana Kraljevic, Marija Tripolski, Jayne A L Houghton, Elisa De Franco, Maggie H Shepherd, Veselin Skrabic, Kashyap A Patel,

Can J Diabetes (Canadian journal of diabetes)
[2020, 44(2):128-130]

Cited: 1 time

View full text PDF listing >>



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,

Identifying new causes of permanent neonatal diabetes (PNDM) (diagnosis <6 months) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are four times more likely to have childhood diabetes with an intermediate HLA association. It is not known whether DS can cause PNDM. We ... Read more >>

Diabetes (Diabetes)
[2019, 68(7):1528-1535]

Cited: 10 times

View full text PDF listing >>



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.

Kashyap A Patel, Michael N Weedon, Beverley M Shields, Ewan R Pearson, Andrew T Hattersley, Timothy J McDonald, ,

Diabetes Care (Diabetes care)
[2019, 42(2):e16-e17]

Cited: 10 times

View full text PDF listing >>



A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.

Maggie H Shepherd, Beverley M Shields, Michelle Hudson, Ewan R Pearson, Christopher Hyde, Sian Ellard, Andrew T Hattersley, Kashyap A Patel, ,

<h4>Aims/hypothesis</h4>Treatment change following a genetic diagnosis of MODY is frequently indicated, but little is known about the factors predicting future treatment success. We therefore conducted the first prospective study to determine the impact of a genetic diagnosis on individuals with GCK-, HNF1A- or HNF4A-MODY in the UK, and to identify ... Read more >>

Diabetologia (Diabetologia)
[2018, 61(12):2520-2527]

Cited: 16 times

View full text PDF listing >>



PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Thomas W Laver, Kashyap A Patel, Kevin Colclough, Jacqueline Curran, Jane Dale, Nikki Davis, David B Savage, Sarah E Flanagan, Sian Ellard, Andrew T Hattersley, Michael N Weedon,

<h4>Context</h4>Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance.<h4>Objective</h4>We investigated if null variants in PLIN1 cause lipodystrophy.<h4>Methods</h4>As part of a targeted ... Read more >>

J Clin Endocrinol Metab (The Journal of clinical endocrinology and metabolism)
[2018, 103(9):3225-3230]

Cited: 2 times

View full text PDF listing >>



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,

There is wide variation in the age at diagnosis of diabetes in individuals with maturity-onset diabetes of the young (MODY) due to a mutation in the <i>HNF1A</i> gene. We hypothesized that common variants at the <i>HNF1A</i> locus (rs1169288 [I27L], rs1800574 [A98V]), which are associated with type 2 diabetes susceptibility, may ... Read more >>

Diabetes (Diabetes)
[2018, 67(9):1903-1907]

Cited: 6 times

View full text PDF listing >>



A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Matthew B Johnson, Kashyap A Patel, Elisa De Franco, Jayne A L Houghton, Timothy J McDonald, Sian Ellard, Sarah E Flanagan, Andrew T Hattersley,

<h4>Aims/hypothesis</h4>Identifying individuals suitable for monogenic autoimmunity testing and gene discovery studies is challenging: early-onset type 1 diabetes mellitus can cluster with additional autoimmune diseases due to shared polygenic risk and islet- and other organ-specific autoantibodies are present in both monogenic and polygenic aetiologies. We aimed to assess whether a type ... Read more >>

Diabetologia (Diabetologia)
[2018, 61(4):862-869]

Cited: 11 times

View full text PDF listing >>



Precision diabetes: learning from monogenic diabetes.

Andrew T Hattersley, Kashyap A Patel,

The precision medicine approach of tailoring treatment to the individual characteristics of each patient or subgroup has been a great success in monogenic diabetes subtypes, MODY and neonatal diabetes. This review examines what has led to the success of a precision medicine approach in monogenic diabetes (precision diabetes) and outlines ... Read more >>

Diabetologia (Diabetologia)
[2017, 60(5):769-777]

Cited: 87 times

View full text PDF listing >>



Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Kashyap A Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W Laver, Kevin Colclough, Matthew B Johnson, Marc Abramowicz, Leif Groop, Päivi J Miettinen, Maggie H Shepherd, Sarah E Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N Weedon,

Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients, we identify two probands with novel RFX6 ... Read more >>

Nat Commun (Nature communications)
[2017, 8(1):888]

Cited: 33 times

View full text PDF listing >>





Advertisement


Disclaimer

1.0759 s