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Monogenic diabetes
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …
Monogenic diabetes: a gateway to precision medicine in diabetes
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 …
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Skip to main content Here's how you …
monogenic diabetes in children and adolescents - PMC Skip to main content Here's how you …
[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …
Pathological β-cell endoplasmic reticulum stress in type 2 diabetes: current evidence
The notion that in diabetes pancreatic β-cells express endoplasmic reticulum (ER) stress
markers indicative of increased unfolded protein response (UPR) signaling is no longer in …
markers indicative of increased unfolded protein response (UPR) signaling is no longer in …
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models
The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with
life-threatening consequences; currently, no treatment is available. The disease is caused …
life-threatening consequences; currently, no treatment is available. The disease is caused …
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or
impairing β cell function. Understanding the genetic basis of rare diabetes subtypes …
impairing β cell function. Understanding the genetic basis of rare diabetes subtypes …
ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome
M Liiv, A Vaarmann, D Safiulina, V Choubey… - Nature …, 2024 - nature.com
Wolfram syndrome is a rare genetic disease caused by mutations in the WFS1 or CISD2
gene. A primary defect in Wolfram syndrome involves poor ER Ca2+ handling, but how this …
gene. A primary defect in Wolfram syndrome involves poor ER Ca2+ handling, but how this …
Current drug repurposing strategies for rare neurodegenerative disorders
S Shah, MM Dooms, S Amaral-Garcia… - Frontiers in …, 2021 - frontiersin.org
Rare diseases are life-threatening or chronically debilitating low-prevalent disorders caused
by pathogenic mutations or particular environmental insults. Due to their high complexity …
by pathogenic mutations or particular environmental insults. Due to their high complexity …
[HTML][HTML] Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with
phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic …
phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic …