Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
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When ganglioside pathways go awry: congenital disorders and experimental insights
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NGLY1 deficiency – clinical features and therapeutic strategy
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…
TF Binding Mapped via DynaTag in Single Cells, Low-Input Samples
Mapping transcription factor (TF) binding sites across the genome is key to understanding how cells control gene expression,…
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
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New research identifies critical gene for treatment
Amyotrophic lateral sclerosis (ALS) – which you may know as the disease that affected Stephen Hawking – is…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Ancient viral DNA found to regulate human gene expression
A new international study suggests that ancient viral DNA embedded in our genome, which were long dismissed as…
Mapping trait-associated cells with spatial transcriptomics
Genome-wide association studies (GWAS) have uncovered numerous genetic variants associated with complex traits. However, a critical gap remains…
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients
Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol. 2010;55:2789–800. PubMed Google Scholar Gehlen J,…