Sentences with word «heterozygous»

They identified a compound heterozygous mutation in the ARSA gene: c. 542T > G (exon 3) and the novel mutation c. 1013T > C (exon 6).

In mice heterozygous for tau - lacZ targeted to the melanopsin gene locus, β - galactosidase — positive RGC axons projected to the SCN and other brain nuclei involved in circadian photoentrainment or the pupillary light reflex.

Compound heterozygous mutations in UBA5 causing early - onset epileptic encephalopathy in two sisters.

In the course of screening over 180 mutant mouse strains with a systematic battery of behavioral tests, Dr. Tsuyoshi Miyakawa and his colleagues found that mice with heterozygous knockout of the alpha - isoform of calcium / calmodulin - dependent protein kinase II (αCaMKII) exhibit behavioral deficits and other brain features consistent with bipolar disorder.

Most notably, the studies are based on transient transfection of wild - type and mutant gene constructs into cultured cells or into zebrafish embryos and are unlikely to reproduce the specific mutant gene dose that is present in heterozygous mutant cells in FOP patients.

Mice with a homozygous SMN1 deletion are the offspring of heterozygous carriers, mimicking the SMA genetics in humans.

Lethal lines were maintained using heterozygous female offspring.

Similarly, the MDR1 mutation is a dominant genetic trait, so the use of the word «carrier» for heterozygous dogs is incorrect.

Breeding recommendations: Since it is estimated that about 30 % of the Maine Coon population has the mutation we do not recommend withholding all positive heterozygous cats out of the breeding program.

Detection of early motor deficits, together with the genetic similarities to the human condition, would further support the use of heterozygous knock in mice as a tool for examining the early mechanisms of pathophysiology of HD and for screening potential treatments.

In any case where an individual was heterozygous at a given gene, the researchers could look for allele - specific expression.

XpdTTD / KO hemizygous cells were thus used as the baseline on which to compare the activity of compound heterozygous cells.

Taken together, these data suggest a shift to a biallelic paradigm for compound heterozygous patients in XP complementation group D.

In June, he and his colleague Thaddeus Stappenbeck argued in Nature that all mouse studies should use littermate controls: When studying the activity of a particular gene, breed mice with and without that gene by starting with heterozygous parents.

In late 2015, germline genetic testing demonstrated that he carried a germline heterozygous deletion of two nucleotides in BRCA2 (p.R259fs) that introduced a stop - gain prematurely truncating the protein at residue 274.

Sequence analysis of DNA samples from 78 patients with CMML / aCML samples identified heterozygous JAK2V617F mutations in 7 samples and a homozygous mutation in 1 sample.

First, RT - qPCR analyses showed that the expression of dilp5 mRNA was significantly reduced in CCHa2CR - 1 / Df hemizygotes compared to heterozygous control larvae regardless of sex (Fig 5B).

These responders were considered heterozygous for this trait since their mating resulted in at least one nonresponder offspring.

Beclin 2 homozygous knockout mice have decreased embryonic viability, and heterozygous knockout mice have defective autophagy, increased levels of brain cannabinoid 1 receptor, elevated food intake, and obesity and insulin resistance.

In Drosophila, we found that MCR mutations efficiently spread from their chromosome of origin to the homologous chromosome, thereby converting heterozygous mutations to homozygosity in the vast majority of somatic and germline cells.

The major test compared fungal genes for telltale signs of inbreeding, where heterozygous strips of DNA become homozygous.

Homozygous null bmp7 or bmp2b mutant embryos were obtained from crosses between bmp7 or bmp2b heterozygous zebrafish.

hAPPJ20 mice (7) were maintained on a C57BL / 6J background by crossing heterozygous transgenic mice with nontransgenic C57BL / 6J breeders (The Jackson Laboratory).

However, are results are highly reproducible, i.e., found in 15 independent heterozygous transgenic lines and the two independent lines taken to homozygosity.

To test the potential of a homozygous lethal «null» allele to nevertheless contribute to organismal phenotype, we combined an Xpd † XPCS allele with a viable XpdTTD allele by crossing the corresponding heterozygous animals.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis - microcolon - intestinal hypoperistalsis syndrome.

In order to characterize this possible imbalance, we performed in vitro brain slice whole patch - clamp recordings from the Q175 heterozygous knock - in HD mouse model expressing GFP under the control of the D2 receptor promoter to identify dSPNs (GFP - negative) and iSPNs (GFP - positive).

In contrast, the expression of dilp5 mRNA was remarkably reduced in CCHa2 - R mutant larvae, compared to control larvae heterozygous for either the CCHa2 - RKO51 - 2 or CCHa2 - RTAL - 34 allele, regardless of gender (Fig 4B).

In vivo characterization of the basal ganglia Direct, Indirect, and Hyperdirect pathways in the zQ175 heterozygous knock - in mouse model of Huntington's disease S. ZHONG, H. LIN, A. GHAVAMI, F.R. POSTMA, R. ROGERS, R.CACHOPE, V.BEAUMONT... Abstract / Posters

homocystiene, methylation and MTHFR mutation How does this relate to MTHFR mutation; for example heterozygous C677T, where methylation proceeds much more inefficiently than in folks with homozygous C?