Explanipedia

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life Open

Wendong Zhang, Yonglan Huang, Xueying Su, Xiaoyuan Zhao, Huiying Sheng , et al. · 2025

Background Allogeneic hematopoietic stem cell transplantation (HSCT) has proven to be a viable treatment option for patients with mucopolysaccharidoses (MPS). We investigate the efficacy and improvements in the quality of life of HSCT in p…

Status and factors influencing health-related quality of life in patients with non-alcoholic fatty liver disease in Hangzhou: a cross-sectional study Open

Kexin Lv, Run Zhou, Yunpeng Gu, Tingting Kong, Yutong Chen , et al. · 2025

Objective Due to rapid economic development and the unique lifestyles, cultures and customs of Hangzhou, non-alcoholic fatty liver disease (NAFLD) has attracted widespread attention, with a prevalence rate of 35–45%. In this study, we used…

Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson’s disease Open

Chunhua Zeng, Yunting Lin, Xinshuo Lu, Shehong Chen, Yan Xia , et al. · 2025

Sex Reversal in a 47,XXY Patient due to a Novel Mutation of NR5A1 Gene: A Case Report Open

Wanjun Lin, Cuili Liang, Yongxian Shao, Zhizi Zhou, Ruizhu Lin , et al. · 2024

Background The clinical manifestations of disorders of sex development (DSD) are heterogeneous and the etiology is complex. In addition to abnormal sex chromosome karyotypes, clinically, DSD are more often caused by mutations in genes rela…

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study Open

Yongxian Shao, Cuili Liang, Ya-Ying Su, Yunting Lin, Zhi-Kun Lu , et al. · 2024

Background Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperli…

Relationship between Mutant Genes, SNPs and Mutation Types in Children with Hyperthyroidism Based on Canonical correlation Analysis Open

Xiaojian Mao, Liangliang Tang, Heyong Wang, Hongyi Li, Yongxian Shao , et al. · 2024

Objective Generally, different mutation types affect patients to various degrees. Some mutation types, such as synonymous mutations, do not cause changes in amino acid sequence and have little impact on patients. In contrast, some types of…

Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndrome Open

Rong Du, Yunting Lin, Tong Li, Aijing Xu, Yonglan Huang , et al. · 2023

Background: Lowe syndrome is an uncommon genetic disorder that follows an X-linked recessive inheritance pattern. It is defined by the occurrence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. T…

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism Open

Minzhi Peng, Yongxian Shao, Xiuzhen Li, Kangdi Zhang, Yanna Cai , et al. · 2022

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants Open

Yongxian Shao, Taolin Li, Minyan Jiang, Jianan Xu, Yonglan Huang , et al. · 2022

Background Pathogenic mutations in the PHKG2 are associated with a very rare disease—glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease. Case presentation Here, we report a patient with jaundice, hypoglyca…

Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China Open

Aijing Xu, Minyan Jiang, Wen Zhang, Yunting Lin, Yongxian Shao , et al. · 2022

Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children Open

Xinshuo Lu, Simin Li, Wen Zhang, Yunting Lin, Zhikun Lu , et al. · 2022

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism Open

Li Liu, Minzhi Peng, Yongxian Shao, Xiuzhen Li, Kangdi Zhang , et al. · 2022

The SLC25A32 dysfunction is associated with neural tube defects (NTDs) and exercise intolerance, but very little is known about disease specific mechanisms due to a paucity of animal models. Here, we generated homozygous ( Slc25a32 Y174C/Y…

Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children Open

Xinshuo Lu, Simin Li, Wen Zhang, Yunting Lin, Zhikun Lu , et al. · 2021

Background: Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin for…

Lipoprotein lipase variants interact with polyunsaturated fatty acids for obesity traits in women: Replication in two populations Open

Y. Ma, K. L. Tucker, C. E. Smith, Y. C. Lee, T. Huang , et al. · 2020

Lipoprotein lipase (LPL) is a candidate gene for obesity based on its role in triglyceride hydrolysis and the partitioning of fatty acids towards storage or oxidation. Whether dietary fatty acids modify LPL associated obesity risk is unkno…

Discovery of a Phosphodiesterase 9A Inhibitor as a Potential Hypoglycemic Agent Open

Yongxian Shao, Manna Huang, Wenjun Cui, Ling‐Jun Feng, Yinuo Wu , et al. · 2020

Phosphodiesterase 9 (PDE9) inhibitors have been studied as potential therapeutics for treatment of diabetes and Alzheimer’s disease. Here we report a potent PDE9 inhibitor 3r that has an IC50 of 0.6 nM and >150-fold selectivity over other …

Structure-Based Discovery of Highly Selective Phosphodiesterase-9A Inhibitors and Implications for Inhibitor Design Open

Fei Meng, Jing Hou, Yongxian Shao, Pei‐Ying Wu, Manna Huang , et al. · 2020

A new series of phosphodiesterase-9 (PDE9) inhibitors that contain a scaffold of 6-amino-pyrazolopyrimidinone have been discovered by a combination of structure-based design and computational docking. This procedure significantly saved loa…

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age Open

Yunting Lin, Huiying Sheng, Tzer Hwu Ting, Aijing Xu, Xi Yin , et al. · 2020

Introduction A specific molecular diagnosis of monogenic diabetes mellitus (MDM) will help to predict the clinical course and guide management. This study aims to identify the causative genes implicated in Chinese patients with MDM with on…

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review Open

Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao , et al. · 2019

Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature Review Open

Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao , et al. · 2019

Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depend…

Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature Review Open

Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao , et al. · 2019

Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depend…

Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature Review Open

Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao , et al. · 2019

Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depend…

Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China Open

Aijing Xu, Jing Cheng, Huiying Sheng, Zhe Wen, Yunting Lin , et al. · 2019

To the best of our knowledge, this is the first study of CHI in south China. Mutations in ABCC8 are the most common causes of CHI in this cohort. Diazoxide and dietary treatment were effective in most patients. Multicentre studies a…

Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China Open

Aijing Xu, Jing Cheng, Huiying Sheng, Zhe Wen, Yunting Lin , et al. · 2019

What is already known on this topic?Congenital hyperinsulinism (CHI) is a rare inherited disease characterized by unregulated insulin secretion and profound hypoglycemia.There are few reports pertaining to patients with CHI in south China.…

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY) Open

Xiuzhen Li, Tzer Hwu Ting, Huiying Sheng, Cui Li Liang, Yongxian Shao , et al. · 2018

Supplementary Material for: Risk Factors Associated with Left-Sided Cardiac Valve Calcification: A Case Control Study Open

M. Jiang, L. Wang, Qi Xuan, Yongxian Shao, Xiaoli Kong , et al. · 2016

Objectives: To identify risk factors associated with cardiac valve calcification that is easily detectable through routine blood tests in patients who received valve replacement therapy. Methods: Four hundred pa…

Structural Asymmetry of Phosphodiesterase-9A and a Unique Pocket for Selective Binding of a Potent Enantiomeric Inhibitor Open

Manna Huang, Yongxian Shao, Jianying Hou, Wenjun Cui, Beibei Liang , et al. · 2015

Supplementary Material for: Genome-Wide Analysis of the WRKY Transcription Factors in <b><i>Aegilops tauschii</i></b> Open

Jie Ma, Dou Zhang, Yongxian Shao, Pan Liu, Li Jiang , et al. · 2015

The WRKY transcription factors (TFs) play important roles in responding to abiotic and biotic stress in plants. However, due to its unfinished genome sequencing, relatively few WRKY TFs with full-length coding sequences (CDSs) have been id…

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