List of NDD candidate genes - Insitute of Human Genetics in Leipzig, Germany
, 2023 Rami Abou Jamra, Konrad Platzer
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The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
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Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime [PDF]
, 2013 Lars A. Forsberg +2 more
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In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS
FEBS Letters, EarlyView.We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka +11 more
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The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations. [PDF]
, 2013 As the cost of next-generation sequencing continues to decrease exponentially, it is becoming both affordable and relatively easy for laboratories outside of large-scale sequencing centers to perform exon capture and eventually whole genome sequencing in
Lyon, Gholson J. +2 more
core
Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions
FEBS Letters, EarlyView.We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva +10 more
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Stealing the riches: using the human genome project for livestock research [PDF]
, 2002 The document attached has been archived with permission from the Australian Association of Cattle Veterinarians.The human genome project has brought a new era not only to medical genetics, but also to livestock molecular genetics.
Bottema, C.
core
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
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A new sister journal to the Journal of Human Genetics—for the interest and benefit of the global community of human genome researchers [PDF]
, 2014 Katsushi Tokunaga
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Genetics research at the "Centenary of human population genetics" conference and SBB-2019 [PDF]
, 2020 Tatiana V. Tatarinova +4 more
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