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,... - 《Blood Coagulation & Fibrinolysis An International Journal in Haemostasis & Thrombosis》 被引量: 36发...
DSS1 has also been implicated in nuclear import of BRCA2; consequently, BRCA2 variants defective in interaction with DSS1 are not localized in the nucleus, rendering them defective in HR30. Fig. 1: Physiology of Brca2L2431P homozygous and hemizygous mice. a Schematic representation of BRCA2 ...
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...
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 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...
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 associations between the risk of CTDs and the homozygous variant genotype, heterozygous variant genotype, and variant allele were evaluated for each of the five folate-related SNPs (Table 3). In the single-locus analyses, the genotype frequencies of MTHFR C677T were 33.68% (CC), 35.23% ...
Neonatal-lethal dilated cardiomyopathy due to a homozygousLMOD2donor splice-site variant ArticleOpen access A novelde novoheterozygousDYRK1Amutation causes complete loss of DYRK1A function and developmental delay ArticleOpen access17 June 2020 Introduction ...
sechellia. Moreover, the genotype of the grandparental line donating the Y chromosome displayed a significant contribution to male fertility. The complex interactions revealed in our study support the hypothesis that the heterochromatic Y chromosome participates in co-adapted associations within populations...
TNF-α GA heterozygous genotype, high producer, was significantly more prevalent in patients with MWA than controls (74% versus 44.7%, p<0.0001) whilst the low producer GG homozygous genotype was less frequent in patients compared with controls (22.4% versus 55.3%, p<0.0001). The logistic ...