Results 41 to 50 of about 4,269,423 (255)

Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease

Frontiers in Pediatrics
ObjectiveThis study evaluated the utility of single nucleotide polymorphism (SNP) microarray analysis in prenatal genetic assessment of fetuses diagnosed with congenital heart disease (CHD), retrospectively analyzing pregnancy outcomes and their ...
Hui Hu, Bo Zhou, Qunda Shan, Shuangshuang Shen, Xiangdong Zhang, Penglong Chen, Jiao Liu, Xiaofang Lan   +7 more
doaj   +1 more source

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Molecular Cytogenetics, 2019
Background Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely.
Yang Yang, Wang Hao
doaj   +1 more source

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

Molecular Cytogenetics, 2022
Background A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.
Shengfang Qin, Xueyan Wang, Jin Wang
doaj   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

Comprehensive analysis of expanded carrier screening in Shandong Province, China: results from 3929 individuals

European Journal of Medical Research
Background Expanded carrier screening (ECS) has emerged as an established and efficient approach for identifying carriers of recessive inherited disorders.
Xiaohan Zhao, Fei Hou, Hua Jin
doaj   +1 more source

Exposure to Bisphenol A induces abnormal fetal heart development by promoting ferroptosis

Ecotoxicology and Environmental Safety, 2023
Background: Bisphenol A (BPA), a common endocrine-disrupting chemical (EDC), has been revealed to be closely associated with the induction of abnormal heart development, obesity, prediabetes, and other metabolic disorders.
Chen Yujiao, Zhang Meng, Li Shanshan, Wang Wei, Wang Yipeng, Yin Chenghong   +5 more
doaj   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

Frontiers in Genetics, 2021
BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally ...
Jiao Liu, Xingyu Zhang, Weilan Wang, Xiaofang Lan, Minyue Dong, Kai Yan, Yongliang Lei, Penglong Chen, Mufeng Yang, Qunda Shan, Chunlei Jin   +10 more
doaj   +1 more source

Repurposing a Small Molecule Plant Hormone as a Tunable ON‐Switch for CAR‐T Cell Immunotherapy

Advanced Science, EarlyView.
By engineering a receptor system integrating the plant auxin receptor AFB1 with its co‐receptor IAA7, we enable ligand‐dependent interactions triggered by the plant hormone auxins. This design allows rapid, reversible, and dose‐dependent T cell activation, resulting in potent cytotoxicity against B‐cell lymphoma in vitro and in vivo.
Hongxiang Zeng, Lei Zheng, Rongkun Tao, Sirui Zheng, Yanke Zhong, Yongxia Niu, Peng Zhang, Xiang Ma, Chen Yang, Min Zhang, Fuyu Duan, Jing Yang, Xuan Wei, Xiang Zhou, Zhenbiao Yang, Zhaoxi Sun, Qizhou Lian   +16 more
wiley   +1 more source