Skip to main content
Advertisement

Main menu

  • Home
  • Articles
    • Newest Articles
    • Current Issue
    • Methods & Resources
    • Author Interviews
    • Archive
    • Subjects
  • Collections
  • Submit
    • Submit a Manuscript
    • Author Guidelines
    • License, Copyright, Fee
    • FAQ
    • Why submit
  • About
    • About Us
    • Editors & Staff
    • Board Members
    • Licensing and Reuse
    • Reviewer Guidelines
    • Privacy Policy
    • Advertise
    • Contact Us
    • LSA LLC
  • Alerts
  • Other Publications
    • EMBO Press
    • The EMBO Journal
    • EMBO reports
    • EMBO Molecular Medicine
    • Molecular Systems Biology
    • Rockefeller University Press
    • Journal of Cell Biology
    • Journal of Experimental Medicine
    • Journal of General Physiology
    • Journal of Human Immunity
    • Cold Spring Harbor Laboratory Press
    • Genes & Development
    • Genome Research

User menu

  • My alerts

Search

  • Advanced search
Life Science Alliance
  • Other Publications
    • EMBO Press
    • The EMBO Journal
    • EMBO reports
    • EMBO Molecular Medicine
    • Molecular Systems Biology
    • Rockefeller University Press
    • Journal of Cell Biology
    • Journal of Experimental Medicine
    • Journal of General Physiology
    • Journal of Human Immunity
    • Cold Spring Harbor Laboratory Press
    • Genes & Development
    • Genome Research
  • My alerts
Life Science Alliance

Advanced Search

  • Home
  • Articles
    • Newest Articles
    • Current Issue
    • Methods & Resources
    • Author Interviews
    • Archive
    • Subjects
  • Collections
  • Submit
    • Submit a Manuscript
    • Author Guidelines
    • License, Copyright, Fee
    • FAQ
    • Why submit
  • About
    • About Us
    • Editors & Staff
    • Board Members
    • Licensing and Reuse
    • Reviewer Guidelines
    • Privacy Policy
    • Advertise
    • Contact Us
    • LSA LLC
  • Alerts
  • Follow LSA on Bluesky
  • Follow lsa Template on Twitter

Genomics & Functional Genomics

  • STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs
    Open Access
    STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs

    Hye Kyung Lee, Jichun Chen, Rachael L Philips, Sung-Gwon Lee, Xingmin Feng, Zhijie Wu, Chengyu Liu, Aaron B Schultz, Molly Dalzell, Manja Meggendorfer, Claudia Haferlach, Foster Birnbaum, Joel A Sexton, Amy E Keating, John J O’Shea, Neal S Young, Alejandro V Villarino, Priscilla A Furth, Lothar Hennighausen

    Hye Kyung Lee ... Lothar Hennighausen

    Published 14 April 2025

    Germline activating and deactivating mutations of STAT5b, part of the JAK-STAT signaling pathway, push the immune system and hematopoiesis in opposing directions, tuning systems either up or down.

  • DAF-18/PTEN protects LIN-35/Rb from CLP-1/CAPN-mediated cleavage to promote starvation resistance
    Open Access
    DAF-18/PTEN protects LIN-35/Rb from CLP-1/CAPN-mediated cleavage to promote starvation resistance

    Jingxian Chen, Rojin Chitrakar, L Ryan Baugh

    Jingxian Chen ... L Ryan Baugh

    Published 8 April 2025

    DAF-18/PTEN acts independently of insulin/IGF signaling to promote starvation resistance via LIN-35/Rb and the DREAM complex in C. elegans L1 arrest.

  • Shared requirement for MYC upstream super-enhancer region in tissue regeneration and cancer
    Open Access
    Shared requirement for MYC upstream super-enhancer region in tissue regeneration and cancer

    Inderpreet Sur, Wenshuo Zhao, Jilin Zhang, Margareta Kling Pilström, Anna T Webb, Huaitao Cheng, Ari Ristimäki, Pekka Katajisto, Martin Enge, Helena Rannikmae, Marc de la Roche, Jussi Taipale

    Inderpreet Sur ... Jussi Taipale

    Published 3 April 2025

    A region located upstream of the MYC oncogene that carries more risk for inherited cancer than any other human genomic region is required for intestinal regeneration.

  • Efficient identification of de novo mutations in family trios: a consensus-based informatic approach
    Open Access
    Efficient identification of de novo mutations in family trios: a consensus-based informatic approach

    Mariya Shadrina, Özem Kalay, Sinem Demirkaya-Budak, Charles A LeDuc, Wendy K Chung, Deniz Turgut, Gungor Budak, Elif Arslan, Vladimir Semenyuk, Brandi Davis-Dusenbery, Christine E Seidman, H Joseph Yost, Amit Jain, Bruce D Gelb

    Mariya Shadrina ... Bruce D Gelb

    Published 28 March 2025

    Researchers developed a highly precise and accurate approach for identifying de novo genetic variants in probands from trio genome sequencing, making it suitable for automated large-scale analyses.

  • Unraveling ADHD: genes, co-occurring traits, and developmental dynamics
    Open Access
    Unraveling ADHD: genes, co-occurring traits, and developmental dynamics

    Catriona J Miller, Evgeniia Golovina, Sreemol Gokuladhas, Joerg S Wicker, Jessie C Jacobsen, Justin M O’Sullivan

    Catriona J Miller ... Justin M O’Sullivan

    Published 25 February 2025

    In this study, we identify genes putatively causal for ADHD and show how their biological pathways link to co-occurring traits and biomarkers in a tissue- and time-dependent manner.

  • Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell
    Open Access
    Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell

    Wen-An Wang, Andrea Garofoli, Evandro Ferrada, Christoph Klimek, Barbara Steurer, Alvaro Ingles-Prieto, Tanja Osthushenrich, Aidan MacNamara, Anders Malarstig, Tabea Wiedmer, Giulio Superti-Furga

    Wen-An Wang ... Giulio Superti-Furga

    Published 30 January 2025

    This report investigates the effect of 21 variants in the hSLC39A8 gene experimentally on protein expression, localization, and uptake of metal ions, and computationally on dimerization stability.

  • Gastric cancer genomics study using reference human pangenomes
    Open Access
    Gastric cancer genomics study using reference human pangenomes

    Du Jiao, Xiaorui Dong, Shiyu Fan, Xinyi Liu, Yingyan Yu, Chaochun Wei

    Du Jiao ... Chaochun Wei

    Published 27 January 2025

    Using a concept called graph pangenome for many individual genomes as the baseline can improve the identification and characterization of large-sized genomic variations for disease genomics study.

  • Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells
    Open Access
    Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells

    Beatriz Anjo Lima, Ana Carolina Pais, Juliette Dupont, Patrícia Dias, Noélia Custódio, Ana Berta Sousa, Maria Carmo-Fonseca, Célia Carvalho

    Beatriz Anjo Lima ... Célia Carvalho

    Published 31 December 2024

    This study provides proof of principle for the therapeutic potential of splicing modulation as a strategy to rescue BRCA2 function in mutant cells.

  • Systematic assessment of structural variant annotation tools for genomic interpretation
    Open Access
    Systematic assessment of structural variant annotation tools for genomic interpretation

    Xuanshi Liu, Lei Gu, Chanjuan Hao, Wenjian Xu, Fei Leng, Peng Zhang, Wei Li

    Xuanshi Liu ... Wei Li

    Published 10 December 2024

    This study benchmarks eight structural variant prioritization tools, highlighting their comparable effectiveness in predicting pathogenicity and providing insights for improved genomic research.

  • Membrane transporters modulating the toxicity of arsenic, cadmium, and mercury in human cells
    Open Access
    Membrane transporters modulating the toxicity of arsenic, cadmium, and mercury in human cells

    Andrè Ferdigg, Ann-Katrin Hopp, Gernot Wolf, Giulio Superti-Furga

    Andrè Ferdigg ... Giulio Superti-Furga

    Published 22 November 2024

    This study employs CRISPR/Cas9 loss-of-function screens to simultaneously investigate the contribution of the entire transportome to regulating the toxicity of arsenic, cadmium, and mercury in human cell lines.

Pages

  • Next
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 7
  • 8
  • 9
  • …
  • 17
  • Aging (33)
  • Biophysics (53)
  • Cancer (235)
  • Cell Biology (585)
  • Chemical Biology (23)
  • Chromatin & Epigenetics (133)
  • Development (123)
  • Ecology (5)
  • Evolution (35)
  • Genetics, Gene Therapy & Genetic Disease (130)
  • Genomics & Functional Genomics (167)
  • Immunology (217)
  • Medical Research (98)
  • Metabolism (104)
  • Methods & Resources (89)
  • Microbiology, Virology & Host Pathogen Interaction (157)
  • Molecular Biology (325)
  • Molecular Diagnostics & Diagnostic Imaging (12)
  • Neuroscience (155)
  • Pharmacology & Biotechnology (17)
  • Physiology (45)
  • Plant Science (26)
  • Stem Cells (71)
  • Structural Biology (85)
  • Synthetic Biology (6)
  • Systems & Computational Biology (125)
Advertisement

EMBO Press LogoRockefeller University Press LogoCold Spring Harbor Logo

Content

  • Home
  • Newest Articles
  • Current Issue
  • Archive
  • Subject Collections

For Authors

  • Submit a Manuscript
  • Author Guidelines
  • License, copyright, Fee

Other Services

  • Alerts
  • Bluesky
  • X/Twitter
  • RSS Feeds

More Information

  • Editors & Staff
  • Reviewer Guidelines
  • Feedback
  • Licensing and Reuse
  • Privacy Policy

ISSN: 2575-1077
© 2025 Life Science Alliance LLC

Life Science Alliance is registered as a trademark in the U.S. Patent and Trade Mark Office and in the European Union Intellectual Property Office.