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Browsing Tag

Human Genetics

95 posts
HHealth
Postmitotic transcription and 3D regulation show locus-specific and differentiation-specific sensitivity to cohesin depletion
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Postmitotic transcription and 3D regulation show locus-specific and differentiation-specific sensitivity to cohesin depletion

  • April 14, 2026
Furlong, E. E. M. & Levine, M. Developmental enhancers and chromosome topology. Science 361, 1341–1345 (2018). Article  CAS …
SScience
De novo formation of cis-regulatory contacts in the absence of NIPBL-driven chromatin loop extrusion
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De novo formation of cis-regulatory contacts in the absence of NIPBL-driven chromatin loop extrusion

  • April 14, 2026
Vermunt, M. W., Zhang, D. & Blobel, G. A. The interdependence of gene-regulatory elements and the 3D genome.…
HHealth
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

  • March 31, 2026
Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…
HHealth
Single-cell spatial transcriptomic analysis of human skin anatomy
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Single-cell spatial transcriptomic analysis of human skin anatomy

  • March 24, 2026
A single-cell spatial MERFISH atlas of normal human skin To map the cellular and spatial diversity of human…
HHealth
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
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A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

  • March 13, 2026
FTLD-FET consortium We established an international consortium to identify and bring together a sufficiently large case population to…
HHealth
Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation
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Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation

  • February 14, 2026
Ethical considerations The current study has been approved by the Swedish Ethical Review Authority (DNR 2022-06137-01, DNR 2024-01992-02).…
HHealth
Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling
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Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling

  • February 3, 2026
CTNNB1 hotspot mutational patterns are tissue-specific We analyzed 9,248 tumors with CTNNB1 mutations in the COSMIC database (Fig.…
SScience
p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism
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p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism

  • December 29, 2025
Harbeck, N. et al. Breast cancer. Nat. Rev. Dis. Primers 5, 66 (2019). Article  PubMed  Google Scholar  Chen,…
SScience
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes
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Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes

  • November 19, 2025
Iyer, L. M., Abhiman, S. & Aravind, L. Natural History of Eukaryotic DNA Methylation Systems, Vol. 101 (Elsevier,…
GGenetics
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

  • October 22, 2025
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
GGenetics
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
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Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs

  • October 21, 2025
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
GGenetics
Genetics Sequencing - Precision Medicine - Abstract Illustration as EPS 10 File
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AI Human Genetics Platform Mystra Debuts for Drug Discovery, Validation

  • October 20, 2025
Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…
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