Ratnoff WD Inherited C2 deficiency of complement in rheumatic diseases. Rheum Dis Clin North Am. 1996;2275- 94Google ScholarCrossref 11. Volanakis JEYamauchi YIshii Y Structure, polymorphism, and regulation of expression of the C2 gene. Complement Today. 1993;15- 15Google Scholar 12. Glass...
Notably, several genes we identified have been previously demonstrated to underlie specific Mendelian diseases. For example, we identified common coding variants in TUBB1 that affect platelet traits, while rare variants in TUBB1 were previously linked to inherited thrombocytopenia42,43. BMPR2, which ...
49 SDF-1 participates in the recruitment of mononuclear cells into the CNS, and its intrathecal production is elevated in several neuroinflammatory diseases.50 We have also detected activation of numerous β-chemokines, specifically in the brain stem and cerebellum of Glb1-/- mice. Although the ...
Yes Europeans inherited quite a bit of immune system help from Neanderthals but whether Delta32 was included is not known, just speculated on. Here is what we inherited… https://www.uni-bonn.de/Press-releases/research-team-discovers-201cimmune-gene201d-in-neanderthals Reply Josh says: Febru...
Describe the major models of genetic transmission of inherited traits and diseases. What is the difference between heredity and environment? Describe the three infant temperament types. What does "nurture" mean in nature vs. nurture? What is the difference between dispositional traits ...
We refer to two genes as alleles of each other when they are inherited as alternatives to each other. In molecular terms, alleles are different forms of the same gene. There can be more than two alleles of a gene in a population of organisms. But any given organism has only two alleles...
Multiple studies have emphasized that the inherited and acquired defects of plakins (i.e., DSP or PPL) in humans and animal models potentially lead to dramatic manifestations in the epithelium13,35,38, which is consistent with our mechanistic in vitro findings and clinical findings of EoE. ...
These findings add to the growing list of episodic (and now also chronic) neurological disorders, which are caused by inherited abnormalities of voltage-dependent ion channels. The findings in migraine illustrate that rare, but monogenic variants of a disorder, may be successfully used to identify ...
This study describes a previously unreported inherited genetic marker able to distinguish two subtypes of patients with SS. One limitation of our study is the small number of patients studied in functional experiments. Thus, also considering the high interindividual and intratumoral heterogeneity recently...
Conclusions: DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases. Genet Med 2001:3(5):335–342. Key Words: mutation scanning, inherited neuropathy, genetic heterogeneity, direct sequencing, heteroduplex analysis During the past decade, molecular ...