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    Glossary Truncated Protein

    protein cut short due to genetic mutation

    A truncated protein is a protein that is shorter than its normal length due to a genetic mutation or error during protein synthesis. This can happen when a stop codon appears prematurely in the mRNA sequence, causing the translation process to halt before the full protein is made. Truncated proteins often lack essential functional regions, which can lead to diseases or dysfunctional cellular processes.

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    Research 10 of 792

    1. Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells Journal of Biological Chemistry · 2001 · 8 citations
    2. Expression of truncated latent TGF-β-binding protein modulates TGF-β signaling Journal of Cell Science · 2005 · 40 citations
    3. Faculty Opinions recommendation of Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2005
    4. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    5. Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype Developmental Dynamics · 1999 · 52 citations
    6. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    7. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    8. Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant PloS one · 2012 · 6 citations
    9. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    10. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
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