Results 41 to 50 of about 606,407 (214)

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

open access: yesFEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta

open access: yesBMC Oral Health
Background Dentin sialophosphoprotein (DSPP) is an extracellular matrix protein, which is highly expressed in odontoblasts and transiently expressed in presecretory ameloblasts.
Zhenwei Zhang   +7 more
doaj   +1 more source

SF3B1 mutation in pancreatic cancer contributes to aerobic glycolysis and tumor growth through a PP2A–c‐Myc axis

open access: yesMolecular Oncology, 2021
Hot spot gene mutations in splicing factor 3b subunit 1 (SF3B1) are observed in many types of cancer and create abundant aberrant mRNA splicing, which is profoundly implicated in tumorigenesis.
Jian‐Yu Yang   +12 more
doaj   +1 more source

Hypoxia-induced alternative splicing in endothelial cells [PDF]

open access: yes, 2012
Background: Adaptation to low oxygen by changing gene expression is vitally important for cell survival and tissue development. The sprouting of new blood vessels, initiated from endothelial cells, restores the oxygen supply of ischemic tissues.
Weigand, Julia E.   +11 more
core   +2 more sources

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

open access: yesMolecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities

open access: yesFrontiers in Genetics
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang   +4 more
doaj   +1 more source

A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons [PDF]

open access: yes, 2008
With the rapid increase in the volume of genomic and transcript data in mouse and human, a diverse set of alternative splicing patterns can be discovered.
Chern, Tzu-Ming
core   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

open access: yesMolecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge   +17 more
wiley   +1 more source

Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation [PDF]

open access: yes, 2005
The Scientific Committee of Molecular Biology Techniques (C-MbT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to ...
Tosetto, Alberto   +64 more
core   +2 more sources

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

open access: yesMolecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan   +16 more
wiley   +1 more source

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