A K19E missense mutation in the plasminogen gene is a common cause of familial hypoplasminogenaemia. three different mutations, if inherited in a homozygous or compound-heterozygous manner, may be associated with the development of ligneous conjunctivitis. In... K Tefs,CR Tait,ID Walker,... -...
It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar syndrome in two families belonging to the Malinois dog breed, based on clinical, neurological, electrodiagnostic and histopathological examination. Genetic analysis detected a novel ...
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia Kaisa Kyöstilä, Pernilla Syrjä, Anu K. Lappalainen, Meharji Arumilli, Sruthi Hundi, Veera Karkamo, Ranno Viitmaa, Marjo K. Hytönen & Hannes Loh...
findGSE is a tool for estimating size of (heterozygous diploid or homozygous) genomes by fittingk-mer frequencies iteratively with a skew normal distribution model, which is written inR(code). The current version works on Linux & Mac OS X withRversion 3.3.1 or above. ...
We wanted to find out whether this heterozygous state has as much of an effect on KV2.1 as the homozygous state used in our sub-cellular localization and electrophysiology studies or whether the effect size was between homozygous KV6.4 and homozygous KV6.4-Met419. Indeed, our findings of ...
homozygous with regard to this trait. The offspring from this future parent would have an increased chance of being blue when paired with a heterozygous mate, though with ahomozygous dominantparent, once again “GG,” the offspring would again be heterozygous. A monohybrid cross is often the ...
Acquisition of new skills has the potential to disturb existing network function. To directly assess whether previously acquired cortical function is altered during learning, mice were trained in an abstract task in which selected activity patterns were
inhibited, whereas all glands in both PGT and DGT were suppressed in homozygous lines (#3, Supplementary Fig.17a–c). Fig. 7: GCR1/2 directly repress the expression ofLFS. aVenn diagram showing the overlap of up-regulated transcriptional factors in gland (referred to Supplementary Fig.1), ...
These polymorphisms can occur as a heterozygous genotype (polymorphism in only one allele), homozygous (polymorphism in both alleles), and in the form of complex heterozygotes (one of the above-mentioned polymorphisms in one allele and the other in the other allele). According to the Genome ...
(classified according to the additive genetic model, with the homozygous genotype with higher allele frequency as the reference), age, and sex as covariates. The strength of the association was measured through the ratio of expected total IgE between the heterozygous genotype (or the homozygous ...