1月10日Nature Genetics的研究报道“Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes”,研究人员首次从单细胞层面对基因调控与脑疾病的关联进行了深入剖析,试图揭示疾病背景下基因表达的动态变化及其对脑部健康的影响。 该研究通过对391名捐献者(包括208名脑...
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational ...
S. The heritability of human disease: estimation, uses and abuses. Nat. Rev. Genet. 14, 139–149 (2013). Article CAS PubMed Google Scholar Herskind, A. M. et al. The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870–1900. Hum. Genet. ...
A genetic variant specific to people of African ancestry increases the risk of neurodegenerative diseases, such as Parkinson disease (PD). This variant occurs in a noncoding region and interferes with the splicing of mRNA transcripts, resulting in lowered protein levels and activity. This work revea...
Trial Confirms 'Life-Changing' Impact of Gene Therapy for Hemophilia B HealthDaySept. 26, 2024 Fussy Eater? It Might Be in Your Kid's Genes HealthDaySept. 20, 2024 What Is Sickle Cell Disease? An inherited blood disorder, sickle cell disease can be managed with several treatment options to...
Egyptian Journal of Medical Human Genetics is a global open access journal focused on the genetic basis of human disease. Official publication of the ...
of epithelial function, structure, and development. The advent of accessible and low-cost genetic sequencing has accelerated discovery in the field with over 45 different genes now associated with CoDE disorders. Despite this increasing knowledge in the causal genetics of disease, the underlying ...
Human Genetics focuses on publishing timely articles covering all aspects of human genetics. It covers a broad range of topics from gene structure and ...
In this chapter, we will explore the current understanding of the development and genetic causes of congenital cardiovascular disease. Knowledge has been gained over the past decade or more using molecular genetics and animal modeling studies and these advances in the understanding of valve disorders,...
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmor...