Results 121 to 130 of about 3,800,975 (380)
Novel signaling pathways in pulmonary arterial hypertension (2015 Grover Conference Series) [PDF]
, 2016 The proliferative endothelial and smooth muscle cell phenotype, inflammation, and pulmonary vascular remodeling are prominent features of pulmonary arterial hypertension (PAH).
Awad, Keytam S. +3 more
core +1 more source
Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1 [PDF]
, 2023 Teofana Bizerea +7 more
openalex +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
Autopsy and Case Reports, 2021 Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies.
Meghan Elizabeth Kapp +2 more
doaj
New phenotypes for new breeding goals in dairy cattle
Animal, 2012 Cattle production faces new challenges regarding sustainability with its three pillars – economic, societal and environmental. The following three main factors will drive dairy cattle selection in the future: (1) During a long period, intensive selection
D. Boichard, M. Brochard
doaj +1 more source
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]
, 2019 Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila +11 more
core +1 more source
The senescence-associated secretory phenotype induces cellular plasticity and tissue regeneration
Genes & Development, 2017 Here, Ritschka et al. provide insight into new functions for the senescence-associated secretory phenotype (SASP), which can reinforce the arrest and induce senescence in a paracrine manner. They show that SASP promotes a proregenerative response through
Birgit Ritschka +8 more
semanticscholar +1 more source
FEBS Letters, EarlyView.This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva +5 more
wiley +1 more source
Essential gene pathways for glioblastoma stem cells: clinical implications for prevention of tumor recurrence. [PDF]
, 2011 Glioblastoma (World Health Organization/WHO grade IV) is the most common and most aggressive adult glial tumor. Patients with glioblastoma, despite being treated with gross total resection and post-operative radiation/chemotherapy, will almost always ...
Choe, Jinny +6 more
core +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source