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research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells

8 citations , June 2001 in “Journal of Biological Chemistry”

This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.

research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

77 citations , March 2000 in “Journal of Investigative Dermatology”

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)

18 citations , September 2003 in “International Journal of Cancer”

This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

62 citations , October 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

47 citations , July 1998 in “Journal of Investigative Dermatology”

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

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