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Browsing Tag

Gene Expression

30 posts
GGenetics
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
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A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family

  • September 2, 2025
Cerván-Martín M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
GGenetics
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
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MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review

  • September 1, 2025
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
GGenetics
Next-gen sequencing reveals the regulatory potential of the non-coding genome
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Next-gen sequencing reveals the regulatory potential of the non-coding genome

  • August 24, 2025
The non-coding genome, once dismissed as “junk DNA”, is now recognized as a fundamental regulator of gene expression…
GGenetics
Molecule of mRNA, illustration
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Single-Cell Proteomics Reveal Hidden Layers of Gene Expression

  • August 24, 2025
Single cell gene expression studies often rely on single-cell RNA sequencing (scRNA-seq) alone. While scRNA-seq reveals which genes…
GGenetics
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
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A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant

  • August 22, 2025
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
GGenetics
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
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Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

  • August 21, 2025
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis…
GGenetics
Neurobehavioral profile of individuals with pathogenic variants in CHD3
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Neurobehavioral profile of individuals with pathogenic variants in CHD3

  • August 19, 2025
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
GGenetics
Nerve cells affected by Alzheimer's disease, illustration
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Organoids Used to Find New Alzheimer’s Disease Treatment Target

  • August 16, 2025
Credit: Kateryna Kon/ Getty Images / Science Photo Library Researchers at ShanghaiTech University in China have discovered a…
GGenetics
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
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Genetic insights into the origin, admixture, and migration of the early Austronesian peoples

  • August 7, 2025
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
GGenetics
When ganglioside pathways go awry: congenital disorders and experimental insights
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When ganglioside pathways go awry: congenital disorders and experimental insights

  • July 31, 2025
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
GGenetics
NGLY1 deficiency - clinical features and therapeutic strategy
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NGLY1 deficiency – clinical features and therapeutic strategy

  • July 29, 2025
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…
GGenetics
Dynatag
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TF Binding Mapped via DynaTag in Single Cells, Low-Input Samples

  • July 29, 2025
Mapping transcription factor (TF) binding sites across the genome is key to understanding how cells control gene expression,…
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