Results 31 to 40 of about 218,782 (270)

Footprints of loop extrusion in statistics of intra-chromosomal distances: an analytically solvable model [PDF]

open access: yesarXiv, 2023
Active loop extrusion - the process of formation of dynamically growing chromatin loops due to the motor activity of DNA-binding protein complexes - is firmly established mechanism responsible for chromatin spatial organization at different stages of cell cycle in eukaryotes and bacteria. The theoretical insight into the effect of loop extrusion on the
arxiv  

Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases

open access: yesFEBS Letters, EarlyView.
The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher   +6 more
wiley   +1 more source

Making tau amyloid models in vitro: a crucial and underestimated challenge

open access: yesFEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

open access: yesFrontiers in Pediatrics, 2020
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj   +1 more source

Identification of novel small molecule inhibitors of ETS transcription factors

open access: yesFEBS Letters, EarlyView.
ETS transcription factors play an essential role in tumourigenesis and are indispensable for sprouting angiogenesis, a hallmark of cancer, which fuels tumour expansion and dissemination. Thus, targeting ETS transcription factor function could represent an effective, multifaceted strategy to block tumour growth. The evolutionarily conserved E‐Twenty‐Six
Shaima Abdalla   +9 more
wiley   +1 more source

Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors

open access: yesMolecular Oncology, EarlyView.
Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi   +6 more
wiley   +1 more source

A comprehensive and universal approach for embryo testing in patients with different genetic disorders

open access: yesClinical and Translational Medicine, 2021
Background In vitro fertilization (IVF) with preimplantation genetic testing (PGT) has markedly improved clinical pregnancy outcomes for carriers of gene mutations or chromosomal structural rearrangements by the selection of embryos free of disease ...
Shuo Zhang   +9 more
doaj   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

open access: yesMolecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin   +14 more
wiley   +1 more source

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

open access: yesGenetics in Medicine Open, 2023
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
Ruth Y. Eberhardt   +4 more
doaj  

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer

open access: yesMolecular Oncology, EarlyView.
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas   +15 more
wiley   +1 more source

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