Results 171 to 180 of about 132,804 (307)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Prenatal ultrasound diagnosis and prognosis of persistent left superior vena cava: a 10-year retrospective cohort study at a single center in China. [PDF]

Front Med (Lausanne)
Wei R, Gong J, Ling W, Wu Q, Lyu G, Wang Y, Weng Z.   +6 more
europepmc   +1 more source

The Media and Human Embryology [PDF]

, 1998
Kischer, C. Ward
core   +2 more sources

3D (Bio) Printing Combined Fiber Fabrication Methods for Tissue Engineering Applications: Possibilities and Limitations

Advanced Functional Materials, EarlyView.
Biofabrication aims at providing innovative technologies and tools for the fabrication of tissue‐like constructs for tissue engineering and regenerative medicine applications. By integrating multiple biofabrication technologies, such as 3D (bio) printing with fiber fabrication methods, it would be more realistic to reconstruct native tissue's ...
Waseem Kitana, Indra Apsite, Leonid Ionov   +2 more
wiley   +1 more source

Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities. [PDF]

PLoS One
Fu G, Hu S.
europepmc   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Sonographic Assessment of Fetometric Parameters in Pigs of Different Prolific Genotypes for Gestational Age Estimation. [PDF]

Animals (Basel)
Janelt F, Kauffold J, Sigmarsson HL, Hamedy A, Riehn K, Koethe M, Altemeier J, Rolzhäuser PM.   +7 more
europepmc   +1 more source

Printed Integrated Logic Circuits Based on Chitosan‐Gated Organic Transistors for Future Edible Systems

Advanced Functional Materials, EarlyView.
Edible electronics needs integrated logic circuits for computation and control. This work presents a potentially edible printed chitosan‐gated transistor with a design optimized for integration in circuits. Its implementation in integrated logic gates and circuits operating at low voltage (0.7 V) is demonstrated, as well as the compatibility with an ...
Giulia Coco, Valerio Francesco Annese, Valerio Galli, Ilaria Penna, Debora Russo, Marina Veronesi, Rita Scarpelli, Stefania Sabella, Mario Caironi   +8 more
wiley   +1 more source

Genetic and clinical features of microcephaly in a prenatal cohort. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Liu H, Yin A, Jiang X, Tang L, Liu S, Qin X, Zhong M, Huang C, Jia B.   +9 more
europepmc   +1 more source