Results 61 to 70 of about 93,691 (297)
Generation of a whole chromosome painting probe from monochromosomal hybrid cells by the alu-polymerase chain reaction [PDF]
Archives of Biological Sciences, 2007 Fluorescent in situ hybridization (FISH) has become a widespread technique applicable in basic science and diagnostics. Chromosome painting represents a special application of FISH that has found increasing use in identification of complex chromosome ...
Drakulić Danijela +3 more
doaj +1 more source
Structural biology of ferritin nanocages
FEBS Letters, EarlyView.Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley +1 more source
Molecular Cytogenetics, 2022 Background A patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to have a catastrophic cytogenetic event that manifested as a treatment-refractory aggressive form of ...
Ramakrishnan Sasi +6 more
doaj +1 more source
Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]
Molecular Cytogenetics, 2015 Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features.
Haltrich, Irén +10 more
openaire +3 more sources
Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source
Molecular Oncology, EarlyView.A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath +13 more
wiley +1 more source
Frontiers in Genetics, 2023 Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1),
Min Xie +6 more
doaj +1 more source
Dual targeting of RET and SRC synergizes in RET fusion‐positive cancer cells
Molecular Oncology, EarlyView.Despite the strong activity of selective RET tyrosine kinase inhibitors (TKIs), resistance of RET fusion‐positive (RET+) lung cancer and thyroid cancer frequently occurs and is mainly driven by RET‐independent bypass mechanisms. Son et al. show that SRC TKIs significantly inhibit PAK and AKT survival signaling and enhance the efficacy of RET TKIs in ...
Juhyeon Son +13 more
wiley +1 more source
Molecular Oncology, EarlyView.Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad +12 more
wiley +1 more source
Epilepsy, EEG and chromosomal rearrangements
Epilepsia OpenChromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy.
Justyna Paprocka +4 more
doaj +1 more source