Articles with "variants impact" as a keyword



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ENTPD5: identification of splicing variants and their impact on cancer survival.

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Published in 2021 at "Purinergic signalling"

DOI: 10.1007/s11302-021-09795-6

Abstract: NTPDase5 is a nucleotidase of the endoplasmic reticulum that plays an important role in proteostasis as a regulator of protein N-glycosylation. This enzyme was first identified in hamster as a proto-oncogene activated upon a single… read more here.

Keywords: identification splicing; entpd5 identification; variants impact; splicing variants ... See more keywords
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Papillary Thyroid Cancer—Aggressive Variants and Impact on Management: A Narrative Review

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Published in 2020 at "Advances in Therapy"

DOI: 10.1007/s12325-020-01391-1

Abstract: Introduction Aggressive variants of papillary thyroid cancer (PTC) have been described with increasing frequency. These variants include diffuse sclerosing variant, tall cell variant, columnar cell variant, solid variant, and hobnail variant. Methods We have performed… read more here.

Keywords: variants impact; papillary thyroid; thyroid cancer; aggressive variants ... See more keywords
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Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance

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Published in 2022 at "Blood Advances"

DOI: 10.1182/bloodadvances.2022007065

Abstract: Key Points ADAMTS13 sSNVs affect mRNA thermodynamic stability and may disturb mRNA-splicing sites. Synonymous variations may affect ADAMTS13 function and contribute to large variability in protein expression levels in healthy individuals. read more here.

Keywords: synonymous adamts13; variants impact; variability; adamts13 variants ... See more keywords