Results 141 to 150 of about 133,969 (268)

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Causal genes for osteoporosis: Mendelian randomization analysis with multilayer xQTL data. [PDF]

Medicine (Baltimore)
Yu F, Wan X, Qiu J.
europepmc   +1 more source

Mendelian and non-Mendelian genes

ТЕНДЕНЦИИ РАЗВИТИЯ НАУКИ И ОБРАЗОВАНИЯ, 2018
openaire   +1 more source

Correlation Between Gut Microbiota, Metabolites, and Diabetic Complications: A Two‐Sample Mendelian Randomization Study

Medicine Advances, EarlyView.
Fang et al. demonstrate a significant causal relationship among gut microbiota, gut metabolites, and diabetic complications, highlighting a biological link underlying mechanisms of diabetic vascular diseases. These findings provide important implications for future therapeutic strategy and risk prediction.
Jiaxi Fang, Leilei Zhai, Chan Huang, Liqin Li, Yong Wang, Jiaojiao Fan, Wei Zhou   +6 more
wiley   +1 more source

Immune cell-mediated effects of plasma lipids on heart failure: A two-step, two-sample Mendelian randomization study. [PDF]

Medicine (Baltimore)
Liu Z, Kwaku E, Cui Y, Xiong L, Li S, Zeng L, Du L, Wang K, Zheng J, Luo D, Zeng G, Yue R.   +11 more
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Sickle Cell Disease: Historical Overview and Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Causal insights into how NAFLD progression drives abdominal aortic aneurysm: A bidirectional MR study integrating genetic and multi-omics profiling. [PDF]

Medicine (Baltimore)
Xi R, Yan J, Wang Y, Li L, Liang Y, Cai S, Duan Y.   +6 more
europepmc   +1 more source

Exploring the Reproductive Toxicity of Bisphenol S Through a Network Toxicology and Molecular Docking Analysis

Pediatric Discovery, EarlyView.
Utilizing network toxicology, molecular docking, and dynamic simulations to investigate the potential reproductive toxicity of bisphenol S (BPS). ABSTRACT The aim of this study was to investigate the potential reproductive toxicity of bisphenol S (BPS) and the related molecular mechanisms through a network toxicology approach.
Siyuan Wang, Yan Fu, Xu Huang, Qitong Guo, Xiangqin Zheng, Shengde Wu, Lianju Shen, Guanghui Wei   +7 more
wiley   +1 more source

Causal link between maternal PCOS and fetal/neonatal hemorrhagic and hematological disorders: A 2-sample MR study. [PDF]

Medicine (Baltimore)
Yang C, Song W, Lu K, Dang W, Feng J, Li Y, Li L, Zhang F, Liu L, Wu X.   +9 more
europepmc   +1 more source