Cargando…

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

AIMS/HYPOTHESIS: 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 pre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Houghton, Jayne A. L., McDonald, Timothy J., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448971/ https://www.ncbi.nlm.nih.gov/pubmed/29417186 http://dx.doi.org/10.1007/s00125-018-4551-0

Ejemplares similares

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes
por: Johnson, Matthew B., et al.
Publicado: (2019)

Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of MODY
por: Colclough, Kevin, et al.
Publicado: (2022)

Precision diabetes: learning from monogenic diabetes
por: Hattersley, Andrew T., et al.
Publicado: (2017)

Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes
por: Lango Allen, Hana, et al.
Publicado: (2010)

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
por: Patel, Kashyap A., et al.
Publicado: (2021)

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
por: Ellard, S., et al.
Publicado: (2013)

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants
por: Caswell, Richard C., et al.
Publicado: (2020)

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
por: De Franco, Elisa, et al.
Publicado: (2013)

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells
por: Johnson, Matthew B., et al.
Publicado: (2020)

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
por: De Franco, Elisa, et al.
Publicado: (2015)

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
por: Yaghootkar, H., et al.
Publicado: (2019)

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes
por: Wyatt, Rebecca C., et al.
Publicado: (2022)

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322
por: Johnson, Matthew B., et al.
Publicado: (2018)

Autoantibody repertoire characterization provides insight into the pathogenesis of monogenic and polygenic autoimmune diseases
por: Clarke, Thomas, et al.
Publicado: (2023)

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
por: Urrutia, Inés, et al.
Publicado: (2019)

Searching for Monogenic Diabetes in a High-risk Autoimmune Diabetes Cohort: Needles in a Paperclip Stack
por: Gamu, Daniel, et al.
Publicado: (2021)

Diagnosis of monogenic diabetes: 10‐Year experience in a large multi‐ethnic diabetes center
por: Thomas, Ellen RA, et al.
Publicado: (2015)

Comment on: Khurana et al. The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age. Diabetes Care 2012;35:e59
por: Chakera, Ali J., et al.
Publicado: (2013)

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes
por: Naylor, Rochelle N., et al.
Publicado: (2023)

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy
por: Daggag, Hinda, et al.
Publicado: (2022)

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes
por: McDonald, Tim J., et al.
Publicado: (2011)

Genetic Analysis of Adult-Onset Autoimmune Diabetes
por: Howson, Joanna M.M., et al.
Publicado: (2011)

Strategies to identify individuals with monogenic diabetes: results of an economic evaluation
por: Peters, Jaime L, et al.
Publicado: (2020)

Characteristics of maturity onset diabetes of the young in a large diabetes center
por: Chambers, Christina, et al.
Publicado: (2015)

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation
por: Işık, Emregül, et al.
Publicado: (2019)

Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes
por: Williams, Georgina M., et al.
Publicado: (2016)

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
por: Sansbury, Francis H, et al.
Publicado: (2015)

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
por: Flanagan, Sarah E., et al.
Publicado: (2014)

Diabetes and Autoimmunity
por: Božič, Borut
Publicado: (2002)

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes
por: Babiker, Tarig, et al.
Publicado: (2016)

Genes and Microbiota Interaction in Monogenic Autoimmune Disorders
por: Costa, Federica, et al.
Publicado: (2023)

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
por: Flanagan, Sarah E., et al.
Publicado: (2017)

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
por: Ellard, S., et al.
Publicado: (2008)

Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection
por: Marchand, Luc, et al.
Publicado: (2021)

Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
por: Qu, Jingchun, et al.
Publicado: (2021)

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
por: Hopkins, Jasmin J, et al.
Publicado: (2022)

The Polygenic and Monogenic Basis of Paediatric Fractures
por: Ghatan, S., et al.
Publicado: (2021)

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes
por: Murphy, Rinki, et al.
Publicado: (2023)

Understanding the pathogenesis of lean non-autoimmune diabetes in an African population with newly diagnosed diabetes
por: Kibirige, Davis, et al.
Publicado: (2022)

Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity
por: Sharifinejad, Niusha, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_pqt7nr3q7po878qf4r6i48rpc1