Article
Medicine, General & Internal
Junting Huang, Kailai Nie, Xinpin Lv, Yuting Liu, Guiqi Yang, Junjiang Fu, Longqian Liu, Hongbin Lv
Summary: This case report presents the clinical features and genetic findings of a rare case of Weill-Marchesani syndrome 4 (WMS4). The patient exhibited progressive myopia, thickened lenses, and shorter equatorial diameter, along with brachydactyly and increased intraocular pressure. Genetic testing confirmed the diagnosis of WMS4. During a 3-year follow-up, lens thickness continued to increase and intraocular pressure rose, highlighting the importance of early diagnosis and intervention for better visual outcomes.
FRONTIERS IN MEDICINE
(2023)
Article
Health Care Sciences & Services
ZhiHong Lin, MinJuan Zhu, HongWei Deng
Summary: Weill-Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease characterized by eye abnormalities and short stature. This case report presented a patient with a WMS-like syndrome due to a mutation in the LTBP2 gene, which has not been previously documented in East Asia.
RISK MANAGEMENT AND HEALTHCARE POLICY
(2021)
Article
Biochemistry & Molecular Biology
Nandaraj Taye, Mukti Singh, Clair Baldock, Dirk Hubmacher
Summary: Myogenesis is regulated by MYOD1 and involves ADAMTSL2, which acts as a signal hub to integrate WNT, TGF6, and potentially other signaling pathways in the dynamic microenvironment of differentiating myoblasts during skeletal muscle development and regeneration. ADAMTSL2 depletion leads to impaired myoblast differentiation and abnormal skeletal muscle architecture. Mechanistically, ADAMTSL2 enhances WNT signaling by binding to WNT ligands and receptors, and a WNT-binding ADAMTSL2 peptide is sufficient to promote myogenesis in vitro.
Article
Multidisciplinary Sciences
Sarah Stanley, Zerina Balic, Dirk Hubmacher
Summary: Acromelic dysplasias are rare musculoskeletal disorders caused by mutations in genes encoding proteins that cooperate in a biological pathway but have distinct roles in specific tissues. Most affected proteins interact with fibrillin microfibrils and regulate TGF-beta signaling, contributing to musculoskeletal development and homeostasis.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2021)
Article
Ophthalmology
Na Miao, Yao Zhang, Jin-Ying Liao, Lin Zhou, Ji-Cai He, Rong-Qin Yang, Xu-Yang Liu, Li Tang
Summary: This study aimed to explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature. Through medical history, comprehensive ophthalmic examinations, systemic evaluation, and genetic analysis, a homozygous missense mutation in ADAMTS17 gene was identified in three affected siblings, indicating an autosomal recessive inherited manner of WMS. This study expands the knowledge of WMS-associated mutations and deepens understanding of the pathology associated with ADAMTS17 variants.
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Medicine, Research & Experimental
Mahdieh Hassani, Sara Taghizadeh, Anahita Farahzad Broujeni, Mahvash Habibi, Setareh Banitalebi, Mahbubeh Kasiri, Alireza Sadeghi, Ahoura Nozari
Summary: This study reports a case of Weill-Marchesani syndrome (WMS) in an Iranian family, where a novel mutation in the FBN1 gene was identified through whole-exome sequencing and Sanger sequencing. In addition to the typical symptoms, the patient also exhibited mild intellectual disability. This study presents a new clinical and genetic case.
ADVANCED BIOMEDICAL RESEARCH
(2023)
Article
Food Science & Technology
Hui Zou, Lei Xu, Zhenzhen Xu, Wanqin Xie, Yongtao Wang, Xiaojun Liao, Xiankui Kong
LWT-FOOD SCIENCE AND TECHNOLOGY
(2018)
Review
Pediatrics
Wen Jiang, Bin Ni, Zhiyu Liu, Xuan Liu, Wanqin Xie, Irene X. Y. Wu, Xingli Li
Article
Genetics & Heredity
Hui Xi, Ying Peng, Wanqin Xie, Jialun Pang, Na Ma, Shuting Yang, Jinping Peng, Hua Wang
MOLECULAR CYTOGENETICS
(2020)
Article
Medicine, Research & Experimental
Wanqin Xie, Haiyan Zhou, Lin Zhou, Yun Gong, Jiwu Lin, Yong Chen
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2020)
Article
Obstetrics & Gynecology
Wen Jiang, Zhiyu Liu, Bin Ni, Wanqin Xie, Haiyan Zhou, Xingli Li
Summary: Exposure to NO2 and SO2 during the first trimester of pregnancy is consistently associated with an increased risk of CLDs. Meteorological conditions such as low and high temperatures and high humidity act synergistically with these air pollutants to further increase the risk.
HUMAN REPRODUCTION
(2021)
Article
Reproductive Biology
Wen Jiang, Zhiyu Liu, Bin Ni, Wanqin Xie, Haiyan Zhou, Xingli Li
Summary: Studies have found that maternal exposure to sulfur dioxide, carbon monoxide, nitrogen dioxide, PM2.5, and ozone during early pregnancy increases the risk of congenital heart defects, and ambient heat exposure may enhance these effects. Air pollutants showed more apparent synergistic effects under less and moderately intense heat exposure.
REPRODUCTIVE TOXICOLOGY
(2021)
Article
Genetics & Heredity
Duo Yang, Haiyan Zhou, Jiwu Lin, Shuangxi Zhao, Hao Zhou, Zhaochu Yin, Bin Ni, Yong Chen, Wanqin Xie
Summary: A novel heterozygous variation c.1871A>G (p.Lys624Arg) has been identified in the SIPA1L3 gene in a three-generation Chinese family with isolated juvenile-onset cataracts. The Lys 624 residue of SIPA1L3 is conserved across species and may have an impact on the regulatory function of SIPA1L3 on Rap signaling. Further investigations are needed to validate the functional alteration of this variant.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Ying Peng, Changbiao Liang, Hui Xi, Shuting Yang, Jiancheng Hu, Jialun Pang, Jing Liu, Yingchun Luo, Chengyuan Tang, Wanqin Xie, Hua Wang
Summary: Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. This study presented clinical and genetic findings of three CdLS cases from separate Chinese families, showing associations between mutations in the NIPBL gene and CdLS.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Hui Xi, Wanqin Xie, Jing Chen, Wanglan Tang, Xiuli Deng, Hua Li, Ying Peng, Dan Wang, Shuting Yang, Yanan Zhang, Ranhui Duan, Junqun Fang, Hua Wang
Summary: The study found that implementing FXS carrier screening during prenatal diagnosis is feasible and may help increase the screening rate for FXS. Different types of FXS mutations were identified in pregnant women who participated in the screening, but none of the premutation alleles were inherited by the fetuses.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Dentistry, Oral Surgery & Medicine
Wen Jiang, Wanqin Xie, Bin Ni, Haiyan Zhou, Zhiyu Liu, Xingli Li
Summary: This study found that maternal exposure to CO, NO2, and SO2 during the first trimester of pregnancy may increase the risk of orofacial clefts, and these associations may be independent of particulate matter. Additionally, increasing exposure levels of NO2 may lead to an increased risk of cleft palate only (CPO), while O-3 did not show a significant effect.
Article
Pharmacology & Pharmacy
Mingxia Xie, Hanqing Wang, Jun Peng, Dongqin Qing, Xi Zhang, Dongwei Guo, Pan Meng, Zhihong Luo, Xiaoye Wang, Qinghua Peng
Summary: The natural flavone acacetin has beneficial effects in depression-associated dry eye disease by improving depressive behaviors and relieving dry eye symptoms through inhibition of NLRP3 inflammasome expression levels and enhanced NLRP3 ubiquitination mediated by gp78.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Genetics & Heredity
Haiyan Zhou, Zhongmin Zhou, Zhaochu Yin, Jiwu Lin, Bin Ni, Xin Wang, Ying Peng, Wanqin Xie
Summary: This study used small RNA sequencing to detect the expression profile of cell-free miRNAs in amniotic fluid of Down syndrome (DS) and normal karyotype. The findings revealed 33 differentially expressed miRNAs in DS, including 9 upregulated and 24 downregulated miRNAs. These differentially expressed miRNAs were predicted to target genes involved in various pathways such as cancer, Cushing's syndrome, P13K-Akt, MAPK and AMPK signaling pathways, longevity regulating pathway, and cellular senescence. Furthermore, validation assays confirmed the significant downregulation of miR-22-3p in the DS group. These results provide new insights into the differential expression of cell-free miRNAs in amniotic fluid of DS fetuses.
Article
Medicine, Research & Experimental
Hong-Ying Shu, Hong-Chao Li, Wan-Qin Xie, Bin Ni, Hai-Yan Zhou
BIOMEDICAL REPORTS
(2019)