Case Reports in Genetics, 2017 Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism ...
J. Carter +4 more
doaj +1 more source
A survey of chromosome anomalies in Malta [PDF]
, 1989 433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core
Chromosomal anchoring of linkage groups and identification of wing size QTL using markers and FISH probes derived from microdissected chromosomes in Nasonia(Pteromalidae : Hymenoptera) [PDF]
, 2004 Nasonia vitripennis is a small parasitic hymenopteran with a 50-year history of genetic work including linkage mapping with mutant and molecular markers. For the first time we are now able to anchor linkage groups to specific chromosomes.
Beukeboom, Leo W. +5 more
core +3 more sources
Material‐Induced Nuclear Deformation Controls Chromatin Architecture in Adipose Stem Cells
Advanced Science, EarlyView.Tuning cell and cytoskeleton mechanics modulated nuclear shape and heterochromatin organization in ASCs. Distinct cytoskeletal architectures induced nuclear morphologies from oblate to prolate ellipsoids. Large elongated cells with a structured actin cap exhibited high nuclear strain, driving nuclear envelope deformation and heterochromatin ...
Carlo F. Natale +6 more
wiley +1 more source
The polo-like kinase 1 (PLK1) inhibitor NMS-P937 is effective in a new model of disseminated primary CD56+ acute monoblastic leukaemia [PDF]
, 2013 CD56 is expressed in 15–20% of acute myeloid leukaemias (AML) and is associated with extramedullary diffusion, multidrug resistance and poor prognosis.
A Blair +55 more
core +3 more sources
Paternal Circadian Disruption Impairs Offspring Cognition via Sperm microRNAs
Advanced Science, EarlyView.Paternal circadian disruption remodels the sperm small RNA payload, elevating miR‐92a‐3p/miR‐25‐3p levels and perturbing early embryonic gene regulatory programs. Microinjection experiments and single‐embryo transcriptomics reveal sex‐specific developmental vulnerabilities, ultimately impairing offspring hippocampal synaptic plasticity and cognition ...
Kexin Zou +22 more
wiley +1 more source
Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding
Molecular Cytogenetics, 2008 Background Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen
Weise Anja +2 more
doaj +1 more source
Multicolor chromosome bar codes [PDF]
, 2006 Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core +1 more source
Advanced Science, EarlyView.We uncover a large variety of putative inhibitory ligand‐gated ion channels (LGICs) in the phylum Cnidaria, the sister group to all bilaterian animals. Phylogenetic analysis suggests a complex evolutionary history of inhibitory LGICs with diverse neurotransmitter ligands.
Abhilasha Ojha +13 more
wiley +1 more source
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia [PDF]
, 2006 s Karyotypic evolution is a well-known phenomenon in patients with malignant hernatological disorders during disease progression. We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992.
Bennett JM +46 more
core +1 more source