Results 81 to 90 of about 3,022,656 (326)

Naked cuticle is essential for Drosophila wing development beyond Wingless signaling

FEBS Open Bio, EarlyView.
Naked cuticle (Nkd), a Wnt signaling inhibitor, assumes extensive roles in Drosophila wing development. Overexpressing Nkd causes smaller, crumpled wings, while also perturbing multiple signaling pathways and developmental genes. A specific region (R1S) is critical for Nkd's function as a signaling integrator, offering new insights for studying its ...
Rui Wang, Ping Wang
wiley   +1 more source

A novel variant in NSUN2 causes intellectual disability in a Chinese family

BMC Medical Genomics
NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short ...
Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo   +4 more
doaj   +1 more source

A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany

Genomics, Proteomics & Bioinformatics, 2016
Congenital heart disease (CHD) is the most frequent birth defect (0.8%–1% of all live births). Due to the advance in prenatal and postnatal early diagnosis and treatment, more than 90% of these patients survive into adulthood today. However, several mid-
Thomas Pickardt, Eva Niggemeyer, Ulrike M.M. Bauer, Hashim Abdul-Khaliq   +3 more
doaj   +1 more source

Defect Perturbations in Landau-Ginzburg Models

, 2009
Perturbations of B-type defects in Landau-Ginzburg models are considered. In particular, the effect of perturbations of defects on their fusion is analyzed in the framework of matrix factorizations.
A Adams, A Alekseev, A Kapustin, A Kapustin, C Bachas, C Bachas, C Bachas, CI Lazaroiu, D Eisenbud, Daniel Roggenkamp, E Witten, E Wong, GW Moore, H Enger, H Jockers, I Brunner, I Brunner, I Brunner, I Brunner, I Brunner, I Runkel, Ilka Brunner, J Fröhlich, J Fröhlich, J Knapp, K Graham, K Hori, M Khovanov, M Kormos, N Carqueville, P Seidel, P Seidel, PS Aspinwall, PS Aspinwall, PS Aspinwall, S Fredenhagen, Sebastiano Rossi, SK Ashok, SK Ashok, VB Petkova   +39 more
core   +2 more sources

Autophagosome marker, LC3, is released extracellularly via several distinct pathways

FEBS Open Bio, EarlyView.
This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito, Masashi Arakawa, Koki Maeda, Eiji Morita   +3 more
wiley   +1 more source

Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos

Disease Models & Mechanisms, 2018
Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice prevents initiation of neural tube closure, precluding analysis of its subsequent roles in ...
Gabriel L. Galea, Oleksandr Nychyk, Matteo A. Mole, Dale Moulding, Dawn Savery, Evanthia Nikolopoulou, Deborah J. Henderson, Nicholas D. E. Greene, Andrew J. Copp   +8 more
doaj   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Case Report: A rare pediatric case of hepatitis B virus infection with acute disseminated encephalomyelitis/Guillain–Barré syndrome spectrum diseases

Frontiers in Pediatrics
A 12-year-old girl with convulsions was incidentally found to be infected with hepatitis B virus(HBV), with HBVdeoxyribonucleic acid (DNA) and HBsAg positivity in the cerebrospinal fluid.
Yingxue Li, Dongxu Hu, Xing Shen, Xiaoyan Mao   +3 more
doaj   +1 more source

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Spatial Epidemiologic Analysis of Fetal Birth Defects in Guangxi, China

International Journal of General Medicine
Zhenren Peng,1– 5,* Xiuning Huang,4,5,* Jie Wei,4,5,* Biyan Chen,4,5 Lifang Liang,4,5 Baoying Feng,4,5 Qiufen Wei,1– 5 Sheng He1– 5 1Birth Defects Research Laboratory, Guangxi Clinical Research Center for Birth Defects, Nanning ...
Peng Z, Huang X, Wei J, Chen B, Liang L, Feng B, Wei Q, He S   +7 more
doaj