43 Result(s)

Article

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families

X-linked hyper-immunoglobulin M (X-HIGM) syndrome and autosomal recessive hyper-immunoglobulin E syndrome (HIES) are rare inborn errors of immunity characterized by recurrent infections due to immune system im...

Mingzhen Guo, Yuanxuan Ma, Kangxi Cai, **uxiang Liu, Wenmiao Liu… in Immunogenetics (2024)

Article

Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population

Although the mechanisms responsible for the pathogenesis of preeclampsia (PE) have not been entirely clarified, oxidative stress is thought to be its leading cause. As a major component responsible for reactiv...

Ru Zhang, Shuhui Liu, ** Tan, Zihan Guo, Huabin Hou, Shiguo Liu… in Biochemical Genetics (2024)

Article

Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome

ASH1L potentially contributes to Tourette syndrome (TS) and other neuropsychiatric disorders, as our previous studies have shown. It regulates essential developmental genes by counteracting polycomb-mediated tran...

Cheng Zhang, Wenmiao Liu, Lulu Xu, Shiguo Liu… in European Child & Adolescent Psychiatry (2024)

Article

Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review

Autosomal recessive glutaric acidaemia type I (GA-I) is a rare hereditary metabolic disease characterized by increased organic acids and neurologic symptoms. Although numerous variants in the GCDH gene have be...

Zihan Guo, Anyue Gong, Shiguo Liu, Hui Liang in Molecular Genetics and Genomics (2023)

Article

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism

Congenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short stature if left untreated. It can be divided into thyroid dysgenesis (TD)...

Liangshan Li, **aole Li, **aoyu Wang, Mengmeng Han, Dehua Zhao, Fang Wang… in Endocrine (2023)

Article

The Value of Circulating microRNAs for Diagnosis and Prediction of Preeclampsia: a Meta-analysis and Systematic Review

Preeclampsia (PE) is one of the main causes of maternal death worldwide, but our understanding of the molecular characteristics of disease progression is limited. In this meta-analysis, we aimed to assess the ...

Shiting Qin, Ningxia Sun, Longqiang Xu, Yinglei Xu, Qian Tang… in Reproductive Sciences (2022)

Article

Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann–Pick disease type C

Niemann–Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, affecting the nervous system and the internal organs. It is characterized by the presence of foam cells in bone marrow, liver...

Chengcheng Guan, **nhui Gan, Chengqing Yang, Mingji Yi, Ying Zhang… in Neurological Sciences (2022)

Article

The status of WIF1 methylation in cell-free DNA is associated with the insusceptibility for gefitinib in the treatment of lung cancer

Targeted cancer therapy has shed light on the treatment of tumor, especially for patients with non-small cell lung cancer. However, only a limited portion of NSCLC patients carrying specific mutations showed a...

Zhijun Shen, Chen Chen, Jianhai Sun… in Journal of Cancer Research and Clinical On… (2021)

Article

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases

Mutations in DUOX2 are the frequent cause of congenital hypothyroidism (CH), a common neonatal metabolic disorder characterized by great phenotypic variability. CH can be traditionally subclassified into two subt...

Liangshan Li, Wenmiao Liu, Liqin Zhang, Fang Wang, Fengqi Wang, Maosheng Gu… in Endocrine (2021)

Article

Hypomethylation of CTGF Promoter in Placenta and Peripheral Blood of Pre-eclampsia Women

Pre-eclampsia (PE) is a serious pregnancy complication defined as hypertension combined with proteinuria. Previous report has indicated that the expression of connective tissue growth factor (CTGF) is upregula...

Lu Zhang, Fei Zhao, Cuncun Yang, Qian Tang, Ru Zhang, **g Li… in Reproductive Sciences (2020)

Article

Spontaneous hyperactivity in Ash1l mutant mice, a new model for Tourette syndrome

Shiguo Liu, Miaomiao Tian, Fan He, Jiani Li, Hong **e, Wenmiao Liu… in Molecular Psychiatry (2020)