Grange syndrome is caused by homozygous or compound heterozygous loss‐of‐function variants in the YYA1P1 gene. We report on the case of a 53‐year old female with novel homozygous missense variants in YYA1P1 (c.1079C>T, p.Pro360Leu), presenting with a history of brachysyndactyly, ...
The biological significance of yy1 is highlighted by early embryonic lethality of mice with homozygous yy1 deletion. In addition, mice with heterozygous yy1 ablation show growth retardation and defects in neurulation [3]. Analysis of yy2 ablation has not been reported, yet. The intron lacking yy2...
In practice, the putative YY crucian carp mating with either diploid or tetraploid female fish yielded all male triploids and tetraploids, respectively. This result is consistent with the latter assumption. Thus, the homozygous YY nature of the putative super male fish was confirmed by crossing ...
Dr Gaebler:The biggest difference in our case is really that the next Berlin patient did not receive a homozygous delta-32 CCR5 transplant, but in this case had a donor, a heterozygous wild-type delta-32 transplant, and ...
filaggrin gene (FLG) mutations in this condition suggests that it is inherited in a 'semi-dominant' manner in which one FLG mutation causes a mild phenotype, but two mutations (either homozygous or compound heterozygous) lead to a more pronounced expression of the disorder (Oji and Traupe ...
Moreover, homozygous or heterozygous individuals with one or two copies of 1.4 kb allele showed an earlier age of onset and more advanced metastasis stage compared with patients without this allele (Bonferroni corrected p = 1.35 x 10(-4) and 6.60 x 10(-4) accordingly), whereas homozygous ...
We sought to confirm the role of FH in regulating this axis. Inducible deletion of Fh1 in macrophages from heterozygous Fh1+/– or homozygous Fh1–/– mice (Extended Data Figs. 5c,d and 6h) resulted in decreased IL-10 expression and release (Fig. 3k) and increased TNF release (Fig. 3l...
Further studies have demonstrated the heterozygous or homozygous deletion of factors associated with terminal acinar differentiation, such as Ptf1a, Mist1, and Nr5a2, accelerate KRAS-driven tumorigenesis. 119–122 Conversely, stabilized expression of PTF1A and MIST1 inhibit PanIN formation in the ...
[70] Zhou H,Liang X,Qing Y,et al.Complicated Gitelman syndrome and autoimmune thyroid disease:a case report with a new homozygous mutation in the SLC12A3 gene and literature review[J].BMC Endocr Disord,2018,18:82. [71] Miao Z,Gao Y,Bindels RJ,et al.Coexistence of normotensive primary ...
Each of the 4 non-Agrawal families showed homozygous mutations, together with the recognized mutations, c. Intravascular hemolysis, hemoglobulinuria, and renal failure due to tubular necrosis seen in sufferers with falciparum malaria uncovered to quinine. When due to a medication, it's obviously ...