Results 71 to 80 of about 4,658,239 (268)
This work describes the consequences of alanine scanning mutagenesis on 19 positions (within residues 185-301) of the catalytic domain of factor IX (FIX). R248 and K293 are critical for the secretion of FIX.
林淑容;許雅筑;林淑華 +1 more
core
Loss of AMBRA1 activates MAPK and angiogenesis signaling pathways in melanoma cells
Loss of AMBRA1 in melanoma cells activates multiple oncogenic pathways associated with tumor progression. Transcriptomic and protein network analyses revealed that AMBRA1 depletion enhances MAPK/ERK signaling, angiogenesis, TGF‐β/EMT signaling, and Wnt/axon guidance pathways.
Milad Ibrahim +4 more
wiley +1 more source
The [detection of virtually all mutations]-SSCP (DOVAM-S) is a highly sensitive variant of single strand conformation polymorphism (SSCP). Mutations in the factor IX gene were used to find a set of five SSCP conditions that detects virtually all ...
C.H. Buzin +10 more
doaj +1 more source
MagmaFlow: A desktop platform for artificial intelligence‐driven expression analysis
MagmaFlow is a free, no‐code platform for gene expression analysis. It generates interactive volcano plots, links genes to literature, pathways, and diseases, prioritizes candidates using millions of publications, identifies affected biological processes, builds network diagrams, and exports publication‐ready figures and reports for macOS and Windows ...
Carlos E. Buss +7 more
wiley +1 more source
CO-77 | PERINATAL MANAGEMENT IN WOMAN WITH MILD HEMOPHILIA B: A TWIN PREGNANCY CASE
Background. Women affected by hemophilia and hemophilia carriers may face bleeding challenges during pregnancy and delivery, particularly for hemophilia B (HB), given that factor IX levels do not increase in pregnancy.
Tiziano Martini
doaj
Evaluating the effect of γ‐oryzanol on MASLD pathology using a medaka fish model
This study explores a liver disease called MASLD, which is increasing worldwide and can lead to serious damage. Researchers used medaka fish instead of rodents to test a food compound, γ‐oryzanol. Fish fed this compound had less liver fat and healthier gut bacteria.
Yukako Ito +7 more
wiley +1 more source
BackgroundHemophilia B is a rare X-linked disorder characterized by factor IX (FIX) deficiency, leading to spontaneous bleeding episodes predominantly affecting joints and muscles.
Elisa Bonetti +9 more
doaj +1 more source
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source

