Results 81 to 90 of about 448,876 (293)

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

BMC Medical Genetics, 2020
Background Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.
Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang, Huijun Wang   +5 more
doaj   +1 more source

Single-cell analysis of cardiogenesis reveals basis for organ-level developmental defects. [PDF]

, 2019
Organogenesis involves integration of diverse cell types; dysregulation of cell-type-specific gene networks results in birth defects, which affect 5% of live births.
de Soysa, T Yvanka, Del Sol, Antonio, Gifford, Casey A, Huang, Yu, Okawa, Satoshi, Ranade, Sanjeev S, Ravichandran, Srikanth, Salunga, Hazel T, Schricker, Amelia, Srivastava, Deepak   +9 more
core  

Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]

, 2019
Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan, Ji, Yu, McMahon, Moira, Reynolds, Kurt, Zhou, Chengji J   +4 more
core   +2 more sources

Development of Sustainable MgO–C Refractories Using MgO–C Recyclates and a Novel Eco‐Friendly Fructose–Tannin Binder Crosslinked With Citric Acid

Advanced Engineering Materials, EarlyView.
This study develops sustainable MgO–C refractories using recycled materials and eco‐friendly fructose–tannin binders. The enhanced performance of citric acid as a cross‐linker and functional additives on mechanical and thermomechanical properties was examined. Characterization included strength tests, immersion trials, and microstructural and inclusion
Dinesh K. Gunasekar, Jana Hubálková, Steffen Dudczig, Gert Schmidt, Florian Kerber, Thomas Schemmel, Patrick Gehre, Christos G. Aneziris   +7 more
wiley   +1 more source

Huaier inhibits autophagy and promotes apoptosis in T-cell acute lymphoblastic leukemia by down-regulating SIRT1

Heliyon
Objective: Due to the high drug resistance and relapse rate of T-cell acute lymphoblastic leukemia (T-ALL), the prognosis is usually poor. Therefore, there is an urgent need to find safer and more effective therapeutic drugs. Huaier and its preparations,
Xiang Qin, Xi Chen, Fan Wang, Fangfang Zhong, Yan Zeng, Wenjun Liu   +5 more
doaj   +1 more source

Multifunctional Crushing and Piezoresistive Self‐Sensing in Conductive Epoxy/CNT‐Coated Polyetherimide TPMS Lattices

Advanced Engineering Materials, EarlyView.
This study reports lightweight polyetherimide triply periodic minimal surfaces lattices coated with carbon nanotube‐reinforced epoxy that combine mechanical robustness with self‐sensing. The conformal coating enhances stiffness, strength and energy absorption while enabling reliable strain monitoring.
A. Triay, J. Schneider, P. Harrison, S. Kumar   +3 more
wiley   +1 more source

Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population

The Application of Clinical Genetics
Yingwen Liu,1,2 Jiangyang Xue,1,2 Lulu Yan,1,2 Changshui Chen,2 Shumin Zhao,3 Haibo Li1,2 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, 315000, People’
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H   +5 more
doaj  

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source

Solid‐State Diffusion and Intermetallic Phase Formation in Roll‐Bonded Mg–Zn Composites With Kirigami‐Patterned Inlay

Advanced Engineering Materials, EarlyView.
Mg–Zn composites with a thickness of 0.21 mm were fabricated using roll bonding of a kirigami‐patterned Mg alloy inlay within a Zn matrix. Thermal activation following this process led to the formation of tailored intermetallic structures, which provided the composite with enhanced flexural strength.
Yaroslav Frolov, Oleksandr Bobukh, Christian Klose, Florian Nürnberger, Hans Jürgen Maier   +4 more
wiley   +1 more source

Regulation of cell protrusions by small GTPases during fusion of the neural folds

eLife, 2016
Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of neural fold fusion during neurulation leads to open neural tube defects including spina bifida.
Ana Rolo, Dawn Savery, Sarah Escuin, Sandra C de Castro, Hannah EJ Armer, Peter MG Munro, Matteo A Molè, Nicholas DE Greene, Andrew J Copp   +8 more
doaj   +1 more source