Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1962
Abstract: PRKAG2 cardiac syndrome is a rare autosomal dominant genetic disorder caused by a PRKAG2 gene variant. There are several major adverse cardiac presentations, including hypertrophic cardiomyopathy (HCM) and life‐threatening arrhythmia. Two cases with pathogenic variants… read more here.
Keywords: controversial molecular; cbs versus; variants prkag2; versus non ... See more keywords
Uterine disorders affecting female fertility: what are the molecular functions altered in endometrium?
Sign Up to like & getrecommendations! Published in 2020 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2020.01.025
Abstract: OBJECTIVE To determine the molecular functions of genes exhibiting altered expression in the endometrium of women with uterine disorders affecting fertility. DESIGN Retrospective analysis integrating case and control data from multiple cohorts with endometrium gene… read more here.
Keywords: molecular functions; endometrium; uterine disorders; expression ... See more keywords
The molecular functions of hepatocyte nuclear factors - In and beyond the liver.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2017.11.026
Abstract: The hepatocyte nuclear factors (HNFs) namely HNF1α/β, FOXA1/2/3, HNF4α/γ and ONECUT1/2 are expressed in a variety of tissues and organs, including the liver, pancreas and kidney. The spatial and temporal manner of HNF expression regulates… read more here.
Keywords: molecular functions; nuclear factors; beyond liver; functions hepatocyte ... See more keywords
Molecular functions of RNA helicases during ribosomal subunit assembly
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DOI: 10.1515/hsz-2023-0135
Abstract: Abstract During their biogenesis, the ribosomal subunits undergo numerous structural and compositional changes to achieve their final architecture. RNA helicases are a key driving force of such remodelling events but deciphering their particular functions has… read more here.
Keywords: rna helicases; molecular functions; ribosomal subunit; functions rna ... See more keywords
Prediction of the Disordered Regions of Intrinsically Disordered Proteins Based on the Molecular Functions.
Sign Up to like & getrecommendations! Published in 2019 at "Protein and peptide letters"
DOI: 10.2174/0929866526666190226160629
Abstract: Intrinsically disordered proteins lack a well-defined three dimensional structure under physiological conditions while possessing the essential biological functions. They take part in various physiological processes such as signal transduction, transcription and post-translational modifications and others.… read more here.
Keywords: molecular functions; disordered regions; based molecular; aaindex ... See more keywords
HLA variants have different preferences to present proteins with specific molecular functions which are complemented in frequent haplotypes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.1067463
Abstract: Human leukocyte antigen (HLA) genes are the most polymorphic loci in the human genome and code for proteins that play a key role in guiding adaptive immune responses by presenting foreign and self peptides (ligands)… read more here.
Keywords: hla hla; hla; presentation; molecular functions ... See more keywords
Investigation of the Relationship between the S1 Domain and Its Molecular Functions Derived from Studies of the Tertiary Structure
Sign Up to like & getrecommendations! Published in 2019 at "Molecules"
DOI: 10.3390/molecules24203681
Abstract: S1 domain, a structural variant of one of the “oldest” OB-folds (oligonucleotide/oligosaccharide-binding fold), is widespread in various proteins in three domains of life: Bacteria, Eukaryotes, and Archaea. In this study, it was shown that S1… read more here.
Keywords: molecular functions; investigation relationship; functions derived; domain molecular ... See more keywords