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 Genotype plot for Iso-Y lines and natural data combined showing the genotype of each SNP depicted as homozygous reference (HOM REF: yellow), heterozygous (HET: pink) or homozygous alternative (HOM ALT: purple); each individual is coloured by Iso-Y line, or by sex (females in purple, ...
A homozygous purple flower variety of pea plant [PP] is crossed with a white flower variety of pea[pp]. Answer the following questions by using Punnett square:- i) Mention the phenotype and genotype of the F1 and generation offsprings. ii) If the offsprings of the F1 and ...
We used a panel of 391 microsatellite markers to genotype DNA pools derived from affected persons (29 total), obligate heterozygotes, and unrelated unaffected population-matched controls. Initially, locus D17S1299 exhibited an alteration in allele distribution between the “affected” pools of DNA and...
Immunoprecipitation (IP) and Western blots of endogenous c-Myc and c-Myc-EGFP from wild-type (wt), heterozygous (hets) and homozygous (homos) MEF cell lysates. Cells were untreated (left three lanes in each panel) or treated with MG132 to inhibit degradation (right three lanes). For IP,...
Functional assays on PBMCs showed that cells with a homozygous TT genotype or a heterozygous TC genotype for rs2227473 pro- duced more IL-22 than cells with a homozygous CC genotype for this SNP18. Luciferase reporter assays showed that transcription rates were higher for the T allele than ...
8c). As homozygous mutants were not obtained in sufficient numbers for experimentation, so we used heterozygous Hba1WT/Δ36–39 mice which were fertile and viable into adulthood (Supplementary Table 5). First, we determined whether the Hba1Δ36–39 mutation affected erythrocyte numbers in adult...
Because all mice used in the current study had the same C57BL/6J genetic background as those used in our previous work15 and because the TNF-α knockout allele fails to induce any significant phenotype under heterozygous conditions,18 we assumed that TNF-α+/− SAP–IFN-γ mice would sho...
The NGS analysis revealed that the patient had a homozygous mutation c.993dupA (p.L332Tfs*3) in FBXL4 and that both her parents were heterozygous carriers (Fig. 2). This mutation is rare and had not previously been reported in the ExAC, ESP, and 1000G databases (MAF = 0). According...