Results 31 to 40 of about 407,276 (293)

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

A sustainable organizational structure to integrate psycho-social stimulation programme into primary health care services in Bangladesh: protocol for a pragmatic cluster randomized controlled trial on scaling up early childhood development activities

BMC Psychology
Background Early childhood development (ECD) in low to middle-income nations has been a pressing concern for the last two to three decades. It is estimated that approximately 250 million children under the age of five are not reaching their full ...
S. M. Mulk Uddin Tipu, Sheikh Jamal Hossain, Shams El Arifeen, Syeda Fardina Mehrin, Nur E Salveen, Masuma Kawsir, Mohammad Saiful Alam Bhuiyan, Shamima Shiraji, Mohammed Imrul Hasan, Fahmida Tofail, Jena Derakhshani Hamadani   +10 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Relationship between maternal ABO blood groups and pregnancy outcomes: a retrospective cohort study in Dongguan, China

Journal of Obstetrics and Gynaecology, 2023
The purpose of this study was to study the relationship between maternal ABO blood groups and pregnancy outcomes. A total of 29,658 couples in Dongguan were selected as the research subjects.
Jing-Yun Yu, Bi Jiang, Xin-Jian Zhang, Si-Si Wei, Wei-Chao He   +4 more
doaj   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China

Scientific Reports
Recessive monogenic disorders represent a significant cause of congenital malformations and disabilities in pediatric populations. The present study aims to provide the first comprehensive assessment of clinical experience with expanded carrier screening
Lu pan, Haiyan Luo, Tingting Huang, Huizhen Yuan, Yongyi Zou, Qing Lu, Baitao Zeng, Pengpeng Ma, Yan Yang, Ting Huang, Danping Liu, Bicheng Yang, Yanqiu Liu, Jun Zou, Fen Fu   +14 more
doaj   +1 more source

Incidence of cleft lip and palate, and epidemiology of perinatal deaths related to cleft lip and palate in Hunan Province, China, 2016–2020

Scientific Reports, 2023
This study aimed to analyze the epidemiological characteristics of cleft lip and/or palate (CL/P) and CL/P-related perinatal deaths, provide some information for intervention programs to reduce the incidence of CL/P and provide clues for future ...
Xu Zhou, Yurong Jiang, Junqun Fang, Hua Wang, Donghua Xie, Haiyan Kuang, Ting Li, Qin Liu, Jian He   +8 more
doaj   +1 more source