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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 30 of 791

    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
    11. 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility Journal of Investigative Dermatology · 2017
    12. A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014 · 11 citations
    13. Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity Advanced Science · 2023
    14. Probing Keratinocyte and Differentiation Specificity of the Human K5 Promoter in Vitro and in Transgenic Mice Molecular and Cellular Biology · 1993 · 133 citations
    15. Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation. The Journal of Cell Biology · 1993 · 30 citations
    16. Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV) International Journal of Cancer · 2003 · 18 citations
    17. Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase PLoS Genetics · 2010 · 73 citations
    18. Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis EXPERIMENTAL ANIMALS · 2011 · 9 citations
    19. Phenotypic variability associated with<i>WNT10A</i>nonsense mutations 2010 · 28 citations
    20. Probing keratinocyte and differentiation specificity of the human K5 promoter in vitro and in transgenic mice. Molecular and Cellular Biology · 1993 · 79 citations
    21. Compound Heterozygous Mutations in <i>Forkhead Box N1</i> (<i>FOXN1</i>) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients 2018
    22. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    23. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    24. The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene JCEM case reports · 2023
    25. Effect of beta--catenin on regulating hair follicle cells' proliferation Chieh P'ou Hsueh Pao · 2006
    26. Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice Journal of Investigative Dermatology · 2010 · 23 citations
    27. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    28. Corneodesmosin: Structure, Function and Involvement in Pathophysiology The Open Dermatology Journal · 2010 · 2 citations
    29. Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Journal of Investigative Dermatology · 2017 · 14 citations
    30. Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3 ˜The œAmerican journal of pathology · 2015 · 5 citations