Monogenic diabetes: Implementation of translational genomic research towards precision medicine: 单基因糖尿病: 应用翻译基因组研究朝精准医疗迈进

M Vaxillaire, P Froguel - Journal of Diabetes, 2016 - Wiley Online Library
摘要目前已经认识到了各种类型早期发病的非自身免疫性糖尿病是单基因糖尿病,
每种亚型都是在个体水平上发生的高度变异的单一基因缺陷所导致的. 单基因糖尿病 …

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

G Alkorta-Aranburu, D Carmody, YW Cheng… - Molecular genetics and …, 2014 - Elsevier
Single gene mutations that primarily affect pancreatic β-cell function account for
approximately 1–2% of all cases of diabetes. Overlapping clinical features with common …

Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing

MR Campbell - Expert Review of Molecular Diagnostics, 2020 - Taylor & Francis
Introduction: Monogenic diabetes is a subset of diabetes characterized by the presence of
single-gene mutations and includes neonatal diabetes mellitus and maturity-onset diabetes …

[HTML][HTML] Diagnosis and clinical management of monogenic diabetes

RN Naylor, LH Philipson - 2020 - europepmc.org
Monogenic forms of diabetes are responsible for 1-3% of all young-onset diabetes. The
multiple genes involved can cause one or both of the main phenotypes-congenital …

Genetics of monogenic diabetes: present clinical challenges

S Misra, KR Owen - Current diabetes reports, 2018 - Springer
Abstract Purpose of Review Monogenic forms of diabetes have specific treatments that differ
from the standard care provided for type 1 and type 2 diabetes, making the appropriate …

Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel

S Kherra, JL Blouin, F Santoni, VM Schwitzgebel - Swiss medical weekly, 2017 - smw.ch
Monogenic diabetes (MD) accounts for 1–2% of all diabetes cases. Because of its wide
phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical …

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

M Vaxillaire, A Bonnefond, P Froguel - Best practice & research Clinical …, 2012 - Elsevier
Monogenic diabetes consists of different subtypes of single gene disorders comprising a
large spectrum of phenotypes, namely neonatal diabetes mellitus or monogenic diabetes of …

The application of precision medicine in monogenic diabetes

F Barbetti, N Rapini, R Schiaffini, C Bizzarri… - Expert Review of …, 2022 - Taylor & Francis
Introduction Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a
single gene and may account for 1–2% of all clinical forms of diabetes. To date, more than …

Role of actionable genes in pursuing a true approach of precision medicine in monogenic diabetes

A Marucci, I Rutigliano, G Fini, S Pezzilli, C Menzaghi… - Genes, 2022 - mdpi.com
Monogenic diabetes is a genetic disorder caused by one or more variations in a single
gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal …