Genetics of Monogenic Diabetes: Present Clinical Challenges

Type 1 diabetes

(2018) Linda A DiMeglio et al.   LANCET

Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling

(2018) Daniel J. Perry et al.   Scientific Reports

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

(2018) Pamela Bowman et al.   Lancet Diabetes & Endocrinology

Genetic mutations associated with neonatal diabetes mellitus in Omani patients

(2018) Aisha Al Senani et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

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

(2017) Kashyap A. Patel et al.   Nature Communications

Practical Classification Guidelines for Diabetes in patients treated with insulin: a cross-sectional study of the accuracy of diabetes diagnosis

(2016) Suzy V Hope et al.   BRITISH JOURNAL OF GENERAL PRACTICE

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

(2016) Kashyap A. Patel et al.   DIABETES

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

(2016) Maggie Shepherd et al.   DIABETES CARE

A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians

(2016) Su Fen Ang et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

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

(2016) Shivani Misra et al.   DIABETOLOGIA

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

(2016) Tarig Babiker et al.   DIABETOLOGIA

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

(2016) Bente B. Johansson et al.   DIABETOLOGIA

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

(2015) Sabrina Prudente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

(2015) Richard A. Oram et al.   DIABETES CARE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

Type 2 diabetes in migrant south Asians: mechanisms, mitigation, and management

(2015) Naveed Sattar et al.   Lancet Diabetes & Endocrinology

The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH): Design of a pharmacogenetic Resource for Type 2 Diabetes

(2015) Geoffrey A. Walford et al.   PLoS One

Glucokinase Gene Mutations (MODY 2) in Asian Indians

(2014) Sekar Kanthimathi et al.   Diabetes Technology & Therapeutics

Prevalence of Vascular Complications Among Patients With Glucokinase Mutations and Prolonged, Mild Hyperglycemia

(2014) Anna M. Steele et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

(2013) L. L. Bonnycastle et al.   DIABETES

The clinical utility of C-peptide measurement in the care of patients with diabetes

(2013) A. G. Jones et al.   DIABETIC MEDICINE

The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells

(2013) Richard A. Oram et al.   DIABETOLOGIA

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

(2013) Juraj Stanik et al.   DIABETOLOGIA

ConSurf: Using Evolutionary Data to Raise Testable Hypotheses about Protein Function

(2013) Gershon Celniker et al.   ISRAEL JOURNAL OF CHEMISTRY

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth

(2013) Catherine Pihoker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

Extended Family History of Type 1 Diabetes and Phenotype and Genotype of Newly Diagnosed Children

(2012) A. Parkkola et al.   DIABETES CARE

Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young

(2012) G. Thanabalasingham et al.   DIABETES CARE

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

(2012) B. M. Shields et al.   DIABETOLOGIA

Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1- /Hepatocyte Nuclear Factor 4-  Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes

(2011) R. E. J. Besser et al.   DIABETES CARE

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes: Figure 1

(2011) Tim J. McDonald et al.   DIABETES CARE

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

(2011) T. J. McDonald et al.   DIABETIC MEDICINE

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

(2011) G. Thanabalasingham et al.   DIABETOLOGIA

Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes

(2010) S Anuradha et al.   CLINICAL GENETICS

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

(2010) B. M. Shields et al.   DIABETOLOGIA

Rfx6 directs islet formation and insulin production in mice and humans

(2010) Stuart B. Smith et al.   NATURE

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

(2010) H. Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Identification of Novel Variants in the Hepatocyte Nuclear Factor-1α Gene in South Indian Patients with Maturity Onset Diabetes of Young

(2009) V. Radha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Genetics of Type 1A Diabetes

(2009) Patrick Concannon et al.   NEW ENGLAND JOURNAL OF MEDICINE

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

(2008) Rinki Murphy et al.   Nature clinical practice. Endocrinology & metabolism