Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases

Neubauer, Jacqueline; Wang, Shouyu; Russo, Giancarlo; Haas, Cordula

doi:10.1007/s00414-021-02580-5

Cited by 14 publications

(6 citation statements)

References 57 publications

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“…3A). Two important potential sources of phenotypic variation in humans are CNVs and SNPs [43,44]. We observed a signi cant difference between LUSC and SNP (Supplementary Fig.…”

Section: Pan-cancer Analysis Of Serpina1 Expression With Rna Methylat...mentioning

confidence: 80%

Pan-cancer analysis reveals potential for synergy between SERPINA1 molecular targeting and macrophage-related immunotherapy

Fu¹,

Miao²,

Xue³

et al. 2022

Preprint

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Background The immune response can be modulated by autophagy to alter tumor growth. SERPINA1 is not only an autophagy-related protein but also a serine protease inhibitor with the potential for immunotherapy and targeted drug therapy. Methods Based on the latest multi-omic databases, we evaluated SERPINA1 mRNA and protein expression levels, prognostic value, methylation and mutation, signaling pathway, and gene ontology analysis and explored their relevance. The relationship between SERPINA1 expression and immune and drug sensitivity was also analyzed. Single-cell sequencing was used to validate the function and immunity in different cancers. Results Many tumors are associated with abnormal SERPINA1 expression and a poor prognosis. According to our study, DNA methylation, gene mutations, and post-translational modifications of SERPINA1 were significantly and positively correlated with its expression levels in breast cancer as a diagnostic marker. In addition, we observed that SERPINA1 positively correlates with macrophages and was able to stimulate M2 macrophage polarization, It was found that SERPINA1 was associated with macrophages in glioma immune microenvironments. Conclusions Considering that SERPINA1 plays a role in cancer progression, SERPINA1 may be a new promising target for immunotherapy and drug target therapy.

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“…3A). Two important potential sources of phenotypic variation in humans are CNVs and SNPs [43,44]. We observed a signi cant difference between LUSC and SNP (Supplementary Fig.…”

Section: Pan-cancer Analysis Of Serpina1 Expression With Rna Methylat...mentioning

confidence: 80%

Pan-cancer analysis reveals potential for synergy between SERPINA1 molecular targeting and macrophage-related immunotherapy

Fu¹,

Miao²,

Xue³

et al. 2022

Preprint

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“…Furthermore, with the reported benefit of re-analysis and reinterpretation of variant data to reflect new evidence (Connell et al, 2019;Liu et al, 2019;Salfati et al, 2019;Neubauer et al, 2021), updated test reports may include new information regarding primary or secondary findings. Thus, in addition to obtaining patient preferences regarding current secondary findings, laboratories may consider soliciting patient preferences about receiving updated reports for both primary and secondary findings.…”

Section: Discussionmentioning

confidence: 99%

Revisiting Secondary Information Related to Pharmacogenetic Testing

Haga

2021

Front. Genet.

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Incidental or secondary findings have been a major part of the discussion of genomic medicine research and clinical applications. For pharmacogenetic (PGx) testing, secondary findings arise due to the pleiotropic effects of pharmacogenes, often related to their endogenous functions. Unlike the guidelines that have been developed for whole exome or genome sequencing applications for management of secondary findings (though slightly different from PGx testing in that these refer to detection of variants in multiple genes, some with clinical significance and actionability), no corresponding guidelines have been developed for PGx clinical laboratories. Nonetheless, patient and provider education will remain key components of any PGx testing program to minimize adverse responses related to secondary findings.

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“…A TRPM4 structural variant identified in heterozygous deletion was suggested to be pathogenic in sudden unexplained deaths [145].…”

Section: The Contribution Of Trpm4 To Atrial Electrophysiologymentioning

confidence: 99%

Pharmacological Modulation and (Patho)Physiological Roles of TRPM4 Channel—Part 2: TRPM4 in Health and Disease

et al. 2021

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Transient receptor potential melastatin 4 (TRPM4) is a unique member of the TRPM protein family and, similarly to TRPM5, is Ca2+ sensitive and permeable for monovalent but not divalent cations. It is widely expressed in many organs and is involved in several functions; it regulates membrane potential and Ca2+ homeostasis in both excitable and non-excitable cells. This part of the review discusses the currently available knowledge about the physiological and pathophysiological roles of TRPM4 in various tissues. These include the physiological functions of TRPM4 in the cells of the Langerhans islets of the pancreas, in various immune functions, in the regulation of vascular tone, in respiratory and other neuronal activities, in chemosensation, and in renal and cardiac physiology. TRPM4 contributes to pathological conditions such as overactive bladder, endothelial dysfunction, various types of malignant diseases and central nervous system conditions including stroke and injuries as well as in cardiac conditions such as arrhythmias, hypertrophy, and ischemia-reperfusion injuries. TRPM4 claims more and more attention and is likely to be the topic of research in the future.

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Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases

Cited by 14 publications

References 57 publications

Pan-cancer analysis reveals potential for synergy between SERPINA1 molecular targeting and macrophage-related immunotherapy

Pan-cancer analysis reveals potential for synergy between SERPINA1 molecular targeting and macrophage-related immunotherapy

Revisiting Secondary Information Related to Pharmacogenetic Testing

Pharmacological Modulation and (Patho)Physiological Roles of TRPM4 Channel—Part 2: TRPM4 in Health and Disease

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