ArticlePLoS genetics2019
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Computational meta-analysis of ribosomal RNA fragments: potential targets and interaction mechanisms.Nucleic acids research · 2021Pooled it
- Article
- Transcriptome Study in Sicilian Patients with Huntington's Disease.Diagnostics (Basel, Switzerland) · 2025Article
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- A Novel HypomorphicAntioxidants & redox signaling · 2023Article
- Article
- Review
- Hunting for the cause: Evidence for prion-like mechanisms in Huntington's disease.Frontiers in neuroscience · 2022Review
- Huntington's disease: nearly four decades of human molecular genetics.Human molecular genetics · 2021Review
- Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.Human molecular genetics · 2021Article
- Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development.Molecular autism · 2021Article
- Administration of All-Trans Retinoic Acid to Pregnant Sows Alters Gut Bacterial Community of Neonatal Piglets With Different Hoxa1 Genotypes.Frontiers in microbiology · 2021Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (HdhneoQ20, HdhneoQ50, HdhneoQ111), were placed over a null allele (Hdhex4/5). The most severe hypomorphic allele failed to rescue null lethality at gastrulation, while the intermediate, though still severe, alleles yielded recessive perinatal lethality and a variety of fetal abnormalities affecting body size, skin, skeletal and ear formation, and transient defects in hematopoiesis. Comparative molecular analysis of wild-type and Htt-null retinoic acid-differentiated cells revealed gene network dysregulation associated with organ development that nominate polycomb repressive complexes and miRNAs as molecular mediators. Together these findings demonstrate that Htt is required both pre- and post-gastrulation to support normal development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.