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research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

research Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin in the hair follicle.

72 citations , May 1993 in “The Journal of Cell Biology”

This study detailed the structure and amino acid composition of sheep trichohyalin, noting its presence in various tissues and suggesting a possible functional role beyond structural support in hair follicles.

research Proteopedia entry: Coiled‐coil structure of keratins

10 citations , November 2013 in “Biochemistry and Molecular Biology Education”

This review discusses the history, structure, and biological significance of keratins, including the crystal structure of a keratin helical segment, without reporting new experimental results.

research The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein

161 citations , June 1993 in “Journal of Biological Chemistry”

This study suggests that human trichohyalin may function as a flexible rod linking keratin intermediate filaments and as a scaffold protein in hair follicle and epidermis cell envelopes.

research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

29 citations , July 2015 in “Journal of Medical Genetics”

This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

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