OBJECTIVE: Factor 2 and Factor 5 mutations are among the most common procoagulant genetic disorders and are routinely evaluated in donor preparation. Homozygous mutations are contraindicated for surgery, but heterozygous mutations cannot be said to be an impediment. We aimed to investigate t...
Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis. Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, ext... RMJ Moonen,ADC Paulussen,NYP Souren,... - 《Pediatri...
However, the two genetic inheritance patterns may not be comprehensive for complex diseases, and there may be another genetic effect of the minor allele. Recently, we investigated the association between the tumor necrosis factor-α ( TNF-α ) promoter 238A/G polymorphism ( TNF-α 238G>A, ...
Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease? PINK1 mutations cause recessively inherited early-onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patient... A Djarmati,K Hedrich,M Svetel,... - 《Movement Disorders》 ...
Familial adenomatous polyposis (FAP) is an inherited syndrome caused by a heterozygous adenomatous polyposis coli (APC) germline mutation, associated with a profound lifetime risk for colorectal cancer. While it is well accepted that tumorigenic transformation is initiated following acquisition of a secon...
In BWS patient samples, aberrant elf RNA editing may be a predominant mechanism for loss of ELF protein expression observed in BWS. miRNA-182 may also regulate elf mRNA. Epigenetic regulation may be a significant factor in the phenotype observed in the tumors in BWS arising from a convergence ...
it appears that RBX1 is not essential for global cell survival in a significant set of tumor cell lines. Moreover, our study has raised possibility that hemizygosity may be a significant factor that sensitizes RBX1’s essentiality. Results from CRISPR experiments with the haploid KBM7 and the17...
NF-κB activation is required for protection of cells from apoptosis, especially from that caused by members of the tumor necrosis factor (TNF) family of death cytokines (3,16,33,35). Purified recombinant IKKα and IKKβ both phosphorylate the IκB inhibitors of NF-κB at sites that cause ...
The alleles for human blood types A and B are codominant, but both are dominant over the type O allele. The Rh factor is separate from the ABO blood group and is located on a separate chromosome. The Rh+ allele is domi...
They play important roles in embryonic development, growth control, and homeostasis, which implements through coupling chromatin remodeling to transcription factor recognition. There are 25 patients reported in the medical literature without the typical RSTS features and with exon 30/31 missense or in-...