Human Genetics

McKusick, Victor A.

doi:10.1146/annurev.ge.04.120170.000245

Cited by 19 publications

(4 citation statements)

References 93 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…By contrast, RBMs do not show such a requirement, therefore generating rearrangements that vary in size and genomic content. Ectopic homologous recombination 47 that occurs during meiosis has been known to contribute to human disease for more than 40 years 48 and is perhaps one of the best studied causative mechanisms for genomic disorders 30 . In fact, large LCR pairs located <5 Mb apart can lead to localized genomic instability via NAHR 1,30 (FIG.…”

Section: Recurrent Versus Nonrecurrent Rearrangementsmentioning

confidence: 99%

Mechanisms underlying structural variant formation in genomic disorders

2016

View full text Add to dashboard Cite

With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for genome architecture in the formation of structural variants at a given locus, both in DNA recombination-based processes and in replication-based processes. These reports showcase the influence of repeat sequences on genomic stability and structural variant complexity and also highlight the tremendous plasticity and dynamic nature of our genome in evolution, health and disease susceptibility.

show abstract

Section: Recurrent Versus Nonrecurrent Rearrangementsmentioning

confidence: 99%

Mechanisms underlying structural variant formation in genomic disorders

2016

View full text Add to dashboard Cite

show abstract

“…With the increasing understanding of genetics, epigenetic regulation has obtained significant attention in various biological and pathological processes ( McKusick, 1970 ). Among the crucial RNA modifications involved in epigenetic regulation, m7G modification has emerged as a subject of growing interest ( Dai et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

m7G-related genes predict prognosis and affect the immune microenvironment and drug sensitivity in osteosarcoma

Lin,

Wu,

Yuan

et al. 2023

Front. Pharmacol.

View full text Add to dashboard Cite

Background: Osteosarcoma (OS), a primary malignant bone tumor, confronts therapeutic challenges rooted in multidrug resistance. Comprehensive understanding of disease occurrence and progression is imperative for advancing treatment strategies. m7G modification, an emerging post-transcriptional modification implicated in various diseases, may provide new insights to explore OS pathogenesis and progression.Methods: The m7G-related molecular landscape in OS was probed using diverse bioinformatics analyses, encompassing LASSO Cox regression, immune infiltration assessment, and drug sensitivity analysis. Furthermore, the therapeutic potential of AZD2014 for OS was investigated through cell apoptosis and cycle assays. Eventually, multivariate Cox analysis and experimental validations, were conducted to investigate the independent prognostic m7G-related genes.Results: A comprehensive m7G-related risk model incorporating eight signatures was established, with corresponding risk scores correlated with immune infiltration and drug sensitivity. Drug sensitivity analysis spotlighted AZD2014 as a potential therapeutic candidate for OS. Subsequent experiments corroborated AZD2014's capability to induce G1-phase cell cycle arrest and apoptosis in OS cells. Ultimately, multivariate Cox regression analysis unveiled the independent prognostic importance of CYFIP1 and EIF4A1, differential expressions of which were validated at histological and cytological levels.Conclusion: This study furnishes a profound understanding of the contribution of m7G-related genes to the pathogenesis of OS. The discerned therapeutic potential of AZD2014, in conjunction with the identification of CYFIP1 and EIF4A1 as independent risk factors, opens novel vistas for the treatment of OS.

show abstract

“…One of the first papers published in this 5‐year period was a 46‐page review of human genetics in which McKusick provided a comprehensive update on advances in the fields of cytogenetics, biochemical genetics, immunogenetics, statistical and population genetics, and clinical genetics, that cited 433 references (McKusick, 1970). Included in this paper was a discussion of prenatal diagnosis of Down syndrome and other genetic conditions, a service that had become available in the late 1960s; McKusick noted that “questions of moral, ethical, legal, and political nature are raised” by recent advances in the field.…”

Section: –1974 (89 Papers)mentioning

confidence: 99%

Viewing VictorMcKusick's legacy through the lens of his bibliography

Rasmussen

Pomputius

Amberger

et al. 2021

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.

show abstract

Human Genetics

Cited by 19 publications

References 93 publications

Mechanisms underlying structural variant formation in genomic disorders

Mechanisms underlying structural variant formation in genomic disorders

m7G-related genes predict prognosis and affect the immune microenvironment and drug sensitivity in osteosarcoma

Viewing VictorMcKusick's legacy through the lens of his bibliography

Contact Info

Product

Resources

About