Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George +13 more
wiley +1 more source
A merged fuzzy system and neural network for improving management method and strategy in scientific research and education. [PDF]
Kang W.
europepmc +1 more source
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato +15 more
wiley +1 more source
Seasonal Temperature Differentially Modulates the Immunotranscriptomic Performance in Atlantic Salmon Skin in Response to Natural <i>Caligus rogercresseyi</i> Infestation in Open-Ocean Cages. [PDF]
Cerda-Celis A +9 more
europepmc +1 more source
Schematic pathway diagram illustrating the effects of JI‐CJ002 and dabrafenib on melanoma progression. The combination of JI‐CJ002 and dabrafenib is associated with reduced B7‐H3 expression and modulation of signaling pathways implicated in melanoma progression, including JAK2/STAT3, PI3K/AKT/mTOR, and Rb/E2F1.
Sang‐Eun Lee +4 more
wiley +1 more source
miRNA profiling reveals that gga-let-7i/COL1A2 axis induces cell cycle arrest and triggers cellular senescence to accelerate ovarian aging in laying hens by suppressing the PI3K/AKT/MDM2 pathway. [PDF]
Wei Y +9 more
europepmc +1 more source
While CAFs are produced as a result of education by cancer cells in non‐scirrhous gastric cancer, normal fibroblasts of scirrhous gastric cancer patients are already pre‐conditioned, forming a stromal field for scirrhous gastric cancer. ABSTRACT Scirrhous gastric cancer has aggressive clinical courses and is characterized by dominating cancer ...
Yoshimi Yasukawa +12 more
wiley +1 more source
Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley +1 more source
Prokaryotic morphological features and maintenance activities governed by seasonal productivity conditions. [PDF]
Verma A +6 more
europepmc +1 more source
APA‐Guided Therapeutic miRNA Selection for Periodontitis. ABSTRACT Periodontitis is a chronic inflammatory disease driven by a dysregulated host immune response, in which macrophage‐mediated inflammation shifts from protective to pathological. While monocyte‐derived macrophages (MDMs) are known to adopt a destructive, M1‐like pro‐inflammatory phenotype,
Jing Zhang +6 more
wiley +1 more source

