Results 111 to 120 of about 1,703,111 (346)
Advanced Science, EarlyView.Antibody–drug conjugates (ADCs) transform breast cancer therapy, yet resistance limits their durability. Emerging evidence reveals that ADC failure is not solely tumor‐intrinsic but shaped by dynamic tumor–microenvironment interactions that alter drug delivery, processing, and response.
Minji Seo, Jangsoon Lee, Naoto T. Ueno
wiley +1 more source
Breast Cancer Research, 2011 IntroductionBoth protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full open reading frame mutation screening to assess the contribution of rare missense ...
F. Le Calvez-Kelm +17 more
semanticscholar +1 more source
Causal Prediction of TP53 Variant Pathogenicity Using a Perturbation‐Informed Protein Language Model
Advanced Science, EarlyView.A TP53‐specific predictor, CaVepP53, is developed by fine‐tuning ESMC on experimentally validated variants, quantifying pathogenicity via Euclidean distances. It outperforms general‐purpose models and extends to five cancer genes, enabling interpretable variant classification for precision medicine.
Huiying Chen +15 more
wiley +1 more source
HereditasBackground Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu +6 more
doaj +1 more source
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Case Reports in Genetics, 2017 Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen +5 more
doaj +1 more source
Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain
Advanced Science, EarlyView.This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao +7 more
wiley +1 more source
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]
, 2007 More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Annette Grüters +34 more
core +1 more source
β‐Adrenergic Signaling Promotes Anti‐Tumor Immunity in TP53‐mutant Oral Squamous Cell Carcinoma
Advanced Science, EarlyView.β‐adrenergic stimulation enhances anti‐tumor immunity in TP53‐deficient oral squamous cell carcinoma by inducing tumor‐derived secretion of CXCL10, which attracts and activates cytotoxic CD8+ T cells. The findings demonstrate that β‐adrenergic signaling alters tumor–immune interactions via CXCL10‐mediated paracrine activation, revealing a neuro‐immune ...
Frederico O. Gleber‐Netto +20 more
wiley +1 more source
The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma
BMC Cancer, 2017 Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura +9 more
doaj +1 more source
Genome-wide association study for calving performance using high-density genotypes in dairy and beef cattle [PDF]
, 2015 peer-reviewedBackground Calving difficulty and perinatal mortality are prevalent in modern-day cattle production systems. It is well-established that there is a genetic component to both traits, yet little is known about their underlying genomic ...
Berry, Donagh +4 more
core +3 more sources