Results 61 to 70 of about 341,333 (296)

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

open access: yesAdvanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying   +8 more
wiley   +1 more source

Tobacco Smoke Exposure From Prenatal To Adolescent Periods Drives IBD Pathogenesis: Dynamic DNA Methylation Signatures Across Lifespan Stages

open access: yesAdvanced Science, EarlyView.
This study illustrates that maternal smoking during pregnancy (MSDP) is an independent risk factor for IBD in offspring, and DNA methylation serves as a key mechanistic pathway connecting early‐life smoking exposure with IBD risk in offspring. That highlights the urgent need for preventive interventions targeting prospective parents and minors to ...
Han Zhang   +11 more
wiley   +1 more source

Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases

open access: yesActa Obstetricia et Gynecologica Scandinavica
Introduction This study aims to systematically describe eye malformations and correlate these with extraocular findings. Based on these findings, we propose a protocol for ultrasound evaluation of the fetal eye.
Jorge Jiménez Cruz   +9 more
doaj   +1 more source

miR‐135a‐5p Is a Promising Target to Prevent the Glomerulosclerosis Associated with Podocyte Developmental Toxicity in Offspring Induced by Prenatal Dexamethasone Exposure

open access: yesAdvanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) programs persistent podocyte developmental injury and adult glomerulosclerosis. Mechanistically, glucocorticoid receptor (GR) binds the miR‐135a‐5p promoter and recruits the histone acetyltransferase p300, increasing promoter histone acetylation and sustaining miR‐135a‐5p expression. Elevated miR‐135a‐5p suppresses
Xiaoqi Zhao   +8 more
wiley   +1 more source

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7 [PDF]

open access: gold, 2023
Cheng Huang   +9 more
openalex   +1 more source

Cell‐Free DNA‐Based Theranostics for Inflammatory Disorders

open access: yesAdvanced Science, EarlyView.
Summary on the dual potential of cfDNA as biomarkers and therapeutic targets for inflammatory disorders. Figure was created with BioRender.com. ABSTRACT Inflammatory disorders are characterized by immune‐mediated inflammatory cascades that can affect multiple organs.
Jiatong Li   +7 more
wiley   +1 more source

Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

open access: yesThe Application of Clinical Genetics
Guobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G   +6 more
doaj  

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

open access: yesMolecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu   +6 more
doaj   +1 more source

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