A yeast‐based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12227
Abstract: Defects in serine biosynthesis resulting from loss of function mutations in PHGDH, PSAT1, and PSPH cause a set of rare, autosomal recessive diseases known as Neu‐Laxova syndrome (NLS) or serine‐deficiency disorders. The diseases present with… read more here.
Keywords: yeast based; functional impact; assay; psat1 ... See more keywords
The Functional Impact of Alternative Splicing in Cancer.
Sign Up to like & getrecommendations! Published in 2017 at "Cell reports"
DOI: 10.1016/j.celrep.2017.08.012
Abstract: Alternative splicing changes are frequently observed in cancer and are starting to be recognized as important signatures for tumor progression and therapy. However, their functional impact and relevance to tumorigenesis remain mostly unknown. We carried… read more here.
Keywords: functional impact; splicing changes; cancer; splicing ... See more keywords
Revisiting the Functional Impact of NK Cells.
Sign Up to like & getrecommendations! Published in 2018 at "Trends in immunology"
DOI: 10.1016/j.it.2018.01.011
Abstract: Immune responses are critical for the maintenance of homeostasis but can also upset the equilibrium, depending on the context and magnitude of the response. Natural killer (NK) cells are well known for their important roles… read more here.
Keywords: functional impact; impact cells; revisiting functional;
Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.
Sign Up to like & getrecommendations! Published in 2020 at "Structure"
DOI: 10.1016/j.str.2020.09.008
Abstract: The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying… read more here.
Keywords: srp54 mutations; functional impact; congenital neutropenia; severe congenital ... See more keywords
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML
Sign Up to like & getrecommendations! Published in 2020 at "NPJ Breast Cancer"
DOI: 10.1038/s41523-020-0159-x
Abstract: In silico predictions of missense variants is an important consideration when interpreting variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes. We trained and evaluated hundreds of machine learning algorithms based on results… read more here.
Keywords: prediction functional; functional impact; missense variants; brca1 brca2 ... See more keywords
VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants
Sign Up to like & getrecommendations! Published in 2022 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbac535
Abstract: Determining the pathogenicity and functional impact (i.e. gain-of-function; GOF or loss-of-function; LOF) of a variant is vital for unraveling the genetic level mechanisms of human diseases. To provide a 'one-stop' framework for the accurate identification… read more here.
Keywords: functional impact; function; loss function; gain function ... See more keywords
PO-348 The other 98%: making sense of non-coding variation
Sign Up to like & getrecommendations! Published in 2018 at "ESMO Open"
DOI: 10.1136/esmoopen-2018-eacr25.378
Abstract: Introduction Despite the ever-increasing availability of whole genome sequencing datasets, our ability to understand functional impact of genetic variation remains largely restricted to the coding portion of the genome. Although a selection of methods exist… read more here.
Keywords: non coding; functional impact; coding variation; tissue ... See more keywords
Functional Impact of Genomic Complexity on the Transcriptome of Multiple Myeloma
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-20-4366
Abstract: Purpose: Multiple myeloma is a biologically heterogenous plasma-cell disorder. In this study, we aimed at dissecting the functional impact on transcriptome of gene mutations, copy-number abnormalities (CNA), and chromosomal rearrangements (CR). Moreover, we applied a… read more here.
Keywords: multiple myeloma; impact; functional impact; gene mutations ... See more keywords
Abstract 5296: R2D2: An integrated analysis framework to infer the functional impact of single nucleotide variants (SNVs) using matched germline and tumor DNA and RNA sequencing data
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-5296
Abstract: Introduction: Single nucleotide variants (SNVs) are the most abundant genetic variation in the human genome. Unlike protein-truncating alterations, the functional impact of SNVs can be very difficult to infer from DNA sequencing alone. Although functional… read more here.
Keywords: functional impact; snvs; dna rna; r2d2 ... See more keywords
Functional Impact of Human Genetic Variants of Collagen 18A1/Endostatin on Pulmonary Endothelium.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of respiratory cell and molecular biology"
DOI: 10.1165/rcmb.2019-0056oc
Abstract: Pulmonary arterial hypertension (PAH) is an incurable disease characterized by disordered and dysfunctional angiogenesis leading to small vessel loss and an obliterative vasculopathy. The pathogenesis of PAH is not fully understood but multiple studies have… read more here.
Keywords: biology; genetic variants; functional impact; impact human ... See more keywords
Functional Impact of MacroH2A Histone Variants in Acute Myeloid Leukemia
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DOI: 10.1182/blood-2019-122099
Abstract: Histone variants are emerging as key regulatory molecules in cancer. Recent data provided first evidence of how transcriptional deregulation and changes in the deposition of histone variants may affect malignant transformation. H2A variants are highly… read more here.
Keywords: functional impact; histone variants; macroh2a; h2afy ... See more keywords