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A unique variant of 6-phosphofructo-2-kinase/fructose 2,6 bisphosphatase (PFK2/F2BP), a regulator of glycolytic flux previously uncharacterized in single-cell photosynthetic eukaryotes, was identified in diatom genomes and overexpressed in Thalassiosira pseudonana.
Homozygosity for a SLC39A13 loss of function mutation was detected in sibs affected by a unique variant of EDS that recapitulates the phenotype observed in Slc39a13-KO mice.
This appears to have been the case for the outbreak of multi-drug resistant TB in New York City in the early 1990's, which was later shown to be a unique variant of the W-Beijing strain family [9].
T cells are key components of the immune system, and each has a unique variant of a signalling complex known as the T cell receptor on its surface.
12, 13 This picture shows close similarity with TMEV infections of mice, which are widespread in nature and cause very sporadically an MS-like chronic demyelinating illness, actually only when genetically susceptible mice become infected by a unique variant of TMEV.
In P. falciparum, the only uORF described and functionally characterized to date is a 120 codon region upstream of the var2csa (PFL0030c) coding region, a unique variant of the surface antigen PfEMP1 that mediates adhesion to placenta in pregnant women (Amulic et al., 2009).
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In the 2007 WHO classification, ETANTR was only discussed as a possibly unique variant of CNS tumors [ 14].
In addition, "embryonal tumor with abundant neuropil and true rosettes" (ETANTR) has been discussed as a possibly unique variant of CNS PNET [ 1, 2, 4, 6, 8, 10, 11, 19].
Likewise, they encode two proteins involved in DNA compaction: the non-histone chromosomal protein MC1 and a unique variant (∼200 amino acids longer) of the ScpB subunit of the condensin complex.
We call one such unique variant of one such organism a "self".
Galizia et al. reveal an overrepresentation of unique variants of CHD2 — which encodes the transcriptional regulator 'chromodomain helicase DNA-binding protein 2' — in photosensitive epilepsies, and show that chd2 knockdown in zebrafish causes photosensitivity.
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