Articles with "mutant variants" as a keyword



In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3‐related mutant variants

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Published in 2022 at "Protein Science"

DOI: 10.1002/pro.4518

Abstract: Tyrosinase related protein 1 (TYRP1) is the most abundant melanosomal protein of the melanocyte, where plays an important role in the synthesis of eumelanin, possibly catalyzing the oxidation of 5,6‐dihydroxyindole‐2‐carboxylic acid to 5,6‐quinone‐2‐carboxylic acid. Mutations… read more here.

Keywords: tyrp1; domain; intramelanosomal domain; oculocutaneous albinism ... See more keywords

Nucleic Acid Hybridization-Based Noise Suppression for Ultraselective Multiplexed Amplification of Mutant Variants.

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Published in 2020 at "Small"

DOI: 10.1002/smll.202006370

Abstract: The analysis of mutant nucleic acid (NA) variants can provide crucial clinical and biological insights for many diseases. Yet, existing analysis techniques are generally constrained by nonspecific "noise" signals from excessive wildtype background sequences, especially… read more here.

Keywords: hybridization; ultraselective multiplexed; mutant variants; hybridization based ... See more keywords

Emergence of European and North American mutant variants of SARS‐CoV‐2 in Southeast Asia

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Published in 2020 at "Transboundary and Emerging Diseases"

DOI: 10.1111/tbed.13748

Abstract: Abstract The SARS‐CoV‐2 coronavirus is responsible for the current COVID‐19 pandemic, with an ongoing toll of over 5 million infections and 333 thousand deaths worldwide within the first 5 months. Insight into the phylodynamics and… read more here.

Keywords: european north; southeast asia; north american; sars cov ... See more keywords

Lipidome atlas of p53 mutant variants in pancreatic cancer

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Published in 2025 at "Biology Direct"

DOI: 10.1186/s13062-025-00635-w

Abstract: Mutations in the tumour suppressor protein p53 are present in 70% of human pancreatic ductal adenocarcinomas (PDAC), subsequently to highly common activation mutation of the oncogene KRAS. These p53 mutations generate stable expression of mutant… read more here.

Keywords: lipidome atlas; mutant variants; p53 mutant; p53 ... See more keywords

Characterization of Cauliflower OR Mutant Variants

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Published in 2019 at "Frontiers in Plant Science"

DOI: 10.3389/fpls.2019.01716

Abstract: Cauliflower Orange (Or) mutant is characterized by high level of β-carotene in its curd. Or mutation affects the OR protein that was shown to be involved in the posttranslational control of phytoene synthase (PSY), a… read more here.

Keywords: boor; boor variants; cauliflower mutant; cauliflower ... See more keywords