Results 151 to 160 of about 357,374 (288)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Pregnancy, baby, and childhood outcomes from using anti-seizure medication during pregnancy [PDF]

Background: Evidence of the safety of some anti-seizure medicines (ASMs) during pregnancy remains uncertain. Methods: We conducted a population-based cohort study of singleton pregnancies in Scotland conceived between 01/04/2010-02/07/2023. Exposure was ‘
Kurdi, Amanj, Jarvis, Lynne, Moore, Emily, Merrick, Rachel, Hopkins, Leanne, Bennie, Marion, Vieira, Rute, Wood, Rachael, McTaggart, Stuart, Stark, Victoria, Millar, Morven, Mueller, Tanja   +11 more
core  

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

Real‐Time in Vivo Monitoring of Circulating Endometrial Cells: Uncovering Systemic Dissemination and Temporal Fluctuations in Endometriosis

Advanced Science, EarlyView.
A dual‐color pseudo‐menstrual mouse model enables real‐time tracing of circulating endometrial cells (CECs) from uterine and ectopic sources. The study reveals menstrual‐phase‐dependent, burst‐like CEC release, distinct postoperative behaviors of different CEC origins, and a potential association with prolactin fluctuations, providing an in vivo ...
Shang Wang, Chenyu Hou, Buyun Li, Hongyan Cheng, Xue Ye, Honglan Zhu, Yanmin Li, Rui Chen, Sihan Dong, Yi Li, Huiping Liu, Chen Zhang, Rui Zhang, Hongyi Hou, Xunbin Wei, Xiaohong Chang   +15 more
wiley   +1 more source

Author's reply – Intravenous immunoglobulin treatment in women with four or more recurrent pregnancy losses: A double-blind, randomised, placebo-controlled trial

EClinicalMedicine, 2022
Hideto Yamada, Masashi Deguchi, Shigeru Saito, Toshiyuki Takeshita   +3 more
doaj   +1 more source

Cerium Nanoparticle‐Mediated Inhibition of the NSUN2/m5C Axis Suppresses Synovial Aggression in Rheumatoid Arthritis

Advanced Science, EarlyView.
A novel epitranscriptomic mechanism in rheumatoid arthritis is uncovered: NSUN2 promotes disease via m5C‐dependent stabilization of ICMT mRNA, fueling the migration and invasion of pathogenic RA FLS. Targeting this axis with engineered nanoparticles (Ce/SAA NPs) effectively inhibits disease progression, presenting a precise therapeutic strategy ...
Ruiru Li, Simin Chen, Huijuan Hu, Shiyao Wu, Jingnan Wang, Kai Sun, Chenxi Peng, Suling Liu, Shuoyang Zhang, Yu Kuang, Wei Chen, Qian Qiu, Liuqin Liang, Yu Wen, Hanshi Xu, Youjun Xiao   +15 more
wiley   +1 more source

Women's experience of coping with termination of pregnancy for fetal abnormality: coping strategies, perinatal grief and posttraumatic growth [PDF]

Pregnancy termination for fetal abnormality (TFA) represents 2% of all terminations in England and Wales. In recent years, the number of TFAs has risen (3,099 in 2014 compared to 2,085 in 2009) due to technological developments in prenatal diagnosis and ...
Lafarge, Caroline
core  

Introducing Borsantrazole: A Trifunctional Boron‐Based Pyrazole That Extends the Lifespan of Amyotrophic Lateral Sclerosis Mice

Advanced Science, EarlyView.
Herein we report a boron‐based pyrazole, (Borsantrazole ‐ a small molecule that selectively targets oxidative stress) that significantly increases survival, reduces weight loss, delays disease onset, and affects global protein changes in the SOD1‐G37R mouse model of ALS.
Nitesh Sanghai, Rhonda Kelley, Ying Lao, M. Immanuel Reyes Madlangsakay, Prasanta Paul, M. Alejandra Llanes‐Cuesta, Jun‐Feng Wang, René P. Zahedi, Jiming Kong, Geoffrey K. Tranmer   +9 more
wiley   +1 more source

IFN-γ+ NK cells as a potential predictor of pregnancy loss in unexplained recurrent pregnancy loss. [PDF]

Int J Med Sci
Yan N, Lee P, Jie H, Long L, Fu Y, Zhou C, Yuan Y.   +6 more
europepmc   +1 more source

Paternal Sperm Gnas‐ICR Epigenetic Programming Contributes to PPP‐Like Phenotypes in Female Offspring

Advanced Science, EarlyView.
A paternal glucocorticoid–sperm Gnas‐ICR axis is linked to ovarian endocrine programming in female offspring. Paternal preconception caffeine exposure elevates corticosterone, promotes sperm Gnas‐ICR hypermethylation, and is associated with ovarian Gnas upregulation, cAMP/PKA/CREB–StAR activation, enhanced estradiol synthesis, and PPP‐like phenotypes ...
Jing Huang, Lu Chen, Tiancheng Wu, Yating Li, Hui Wang   +4 more
wiley   +1 more source