A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking
Caspian Journal of Neurological Sciences, 2019 Background: The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development.
Aghil Esmaeili-Bandboni +6 more
doaj
Congenital Malformations in a Holstein-Fresian Calf with a Unique Mosaic Karyotype: A Case Report
Animals, 2020 A Holstein-Fresian calf with multiple congenital malformations was subjected postmortem to anatomical and genetic investigation. The calf was small (20 kg), had shortened limbs and was unable to stand up. It lived only 44 days.
Tomasz Uzar +7 more
doaj +1 more source
Efficient Generation of Random Chromosome Deletions
BioTechniques, 2007 Chromosome Deletions: Where Less Says More The ability to generate large chromosomal deletions and assay the phenotype in cells can provide valuable information regarding genes located within the d...
Yiwei Tony Zhu +3 more
openaire +3 more sources
Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]
, 2019 ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele +9 more
core +1 more source
FEBS Open Bio, EarlyView.dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon +6 more
wiley +1 more source
Reduced mutation rate and increased transformability of transposon-free Acinetobacter baylyi ADP1-ISx [PDF]
, 2017 The genomes of most bacteria contain mobile DNA elements that can contribute to undesirable genetic instability in engineered cells. In particular, transposable insertion sequence (IS) elements can rapidly inactivate genes that are important for a ...
Barrick, Jeffrey E +3 more
core +2 more sources
BMI‐1 modulation and trafficking during M phase in diffuse intrinsic pontine glioma
FEBS Open Bio, EarlyView.The schematic illustrates BMI‐1 phosphorylation during M phase, which triggers its translocation from the nucleus to the cytoplasm. In cycling cells, BMI‐1 functions within the PRC1 complex to mediate H2A K119 monoubiquitination. Following PTC596‐induced M phase arrest, phosphorylated BMI‐1 dissociates from PRC1 and is exported to the cytoplasm via its
Banlanjo Umaru +6 more
wiley +1 more source
FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
Медицинская иммунология, 2017 The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype.
I. A. Tuzankina +3 more
doaj +1 more source
The consequences of replicating in the wrong orientation: Bacterial chromosome duplication without an active replication origin [PDF]
, 2015 Chromosome replication is regulated in all organisms at the assembly stage of the replication machinery at specific origins. In Escherichia coli the DnaA initiator protein regulates the assembly of replication forks at oriC.
Dimude, JU +8 more
core +1 more source
Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control
FEBS Open Bio, EarlyView.Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada +5 more
wiley +1 more source