Results 41 to 50 of about 181,925 (222)

Optimal Haplotype Assembly from High-Throughput Mate-Pair Reads [PDF]

open access: yesarXiv, 2015
Humans have $23$ pairs of homologous chromosomes. The homologous pairs are almost identical pairs of chromosomes. For the most part, differences in homologous chromosome occur at certain documented positions called single nucleotide polymorphisms (SNPs). A haplotype of an individual is the pair of sequences of SNPs on the two homologous chromosomes. In
arxiv  

GenomeFingerprinter and universal genome fingerprint analysis for systematic comparative genomics [PDF]

open access: yes, 2013
How to compare whole genome sequences at large scale has not been achieved via conventional methods based on pair-wisely base-to-base comparison; nevertheless, no attention was paid to handle in-one-sitting a number of genomes crossing genetic category (chromosome, plasmid, and phage) with farther divergences (much less or no homologous) over large ...
arxiv   +1 more source

HDAC4 regulates apoptosis in Acan‐CreERT2;HDAC4d/d mice with osteoarthritis by downregulating ATF4

open access: yesFEBS Open Bio, EarlyView.
Using the AcanCreERT2;HDAC4fl/fl genetic mouse model, we further investigated the role of histone deacetylase 4 (HDAC4) in chondrocyte apoptosis. We found that knocking down HDAC4 may be associated with chondrocyte apoptosis by upregulating the activating transcription factor 4 (ATF4)/CAAT/enhancer binding protein homologous (CHOP) signaling pathway ...
Jingrui Huang   +11 more
wiley   +1 more source

Genome analyses and modelling the relationship between coding density, recombination rate and chromosome length [PDF]

open access: yesarXiv, 2010
In the human genomes, recombination frequency between homologous chromosomes during meiosis is highly correlated with their physical length while it differs significantly when their coding density is considered. Furthermore, it has been observed that the recombination events are distributed unevenly along the chromosomes.
arxiv  

Equi‐MOI ratio for rapid baculovirus‐mediated multiprotein co‐expression in insect cells integrating selenomethionine for structural studies

open access: yesFEBS Open Bio, Volume 15, Issue 4, Page 563-572, April 2025.
This study presents a versatile protocol for producing selenomethionine‐labeled multiprotein complexes, addressing challenges in structural biology such as experimental phasing in X‐ray crystallography. Its efficiency and adaptability make it valuable for researchers studying de novo, dynamic, or complex protein structures, promoting advancements in ...
Andrej Bitala   +3 more
wiley   +1 more source

Possible role of human ribonuclease dicer in the regulation of R loops

open access: yesFEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik   +2 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Mechanics and Dynamics of X-Chromosome Pairing at X Inactivation [PDF]

open access: yesPLoS Comp.Bio. 4, e1000244 (2008), 2009
At the onset of X Chromosomes Inactivation, the vital process whereby female mammal cells equalize X products with respect to males, the X chromosomes are colocalized along their Xic (X-Inactivation Center) regions. The mechanism inducing recognition and pairing of the X's remains, though, elusive.
arxiv  

On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469

open access: yesFEBS Open Bio, EarlyView.
ZNF469 regulates the expression of genes encoding extracellular matrix proteins. Endogenous ZNF469 is predominantly cytoplasmic, while in transfected cells, it forms aggregates reminiscent of biomolecular condensates, located mainly in the nucleus. These condensates exhibit overlapping staining with proteasomes and are also associated with the mitotic ...
Anne Elisabeth Christensen Mellgren   +8 more
wiley   +1 more source

A thermodynamic switch for chromosome colocalization [PDF]

open access: yesGenetics 179, 717 (2008), 2008
A general model for the early recognition and colocalization of homologous DNA sequences is proposed. We show, on a thermodynamic ground, how the distance between two homologous DNA sequences is spontaneously regulated by the concentration and affinity of diffusible mediators binding them, which act as a switch between two phases corresponding to ...
arxiv  

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