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Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
TLDR
A cohort study to elucidate the molecular spectrum of congenital hyperinsulinism (CHI) in Chinese pediatric patients found paternally inherited monoallelic mutations of ABCC8 and KCNJ11 are likely the main causes of KATP-CHI in Chinese patients.
Clinical analysis on 33 patients with hypothalamic syndrome in Chinese children
TLDR
Intracranial tumor is an important cause of hypothalamic syndrome in children, with germinoma the most common and polydipsia, polyuria, and eating disorders are typical presenting symptoms.
[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].
TLDR
The ABCC8 gene mutations are the main pathogenic mechanisms of Chinese children with CHI and the inheritance mode of the mutations may be paternally or de novo.
[Clinical analysis of permanent neonatal diabetes mellitus in 10 cases].
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome
TLDR
This study compares and contrasts the distinct pathologies underpinning the two premature aging disorders, and provides reliable stem-cell based models to identify new therapeutic strategies for pathological and physiological aging.
The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism
TLDR
Diazoxide is a first-line treatment of CHI with high safety and most of the patients with CHI were responsive to diazoxide treatment.
The Correlation between the CLEC16A Gene and Genetic Susceptibility to Type 1 Diabetes in Chinese Children
TLDR
Two polymorphisms in the CLEC16A gene correlate with increased susceptibility to T1DM in Chinese children, revealing that it was another new gene that correlates with susceptibility to SOTA in multiple populations.
KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age
TLDR
A KCNJ11 gene G366W mutation can lead to the onset of T1BDM in Chinese children, and may be one of the main causes of early onset type 1B diabetes mellitus.
A novel EIF2AK3 mutation leading to Wolcott-Rallison syndrome in a Chinese child
TLDR
ETF2AK3 gene mutations can lead to the onset of Wolcott-Rallison syndrome, a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction, and DNA direct assay techniques were used for gene mutation analysis.
A V59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child
TLDR
The KCNJ11 gene was sequenced in a Chinese boy diagnosed with permanent neonatal diabetes mellitus and also in his parents, finding a heterozygous 175G>A (V59M) mutation, which is the first patient who is reported to have iDEND syndrome due to KC NJ11 V59M mutation in China.
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