April 2024 in “JCEM case reports” A woman's rare benign tumor that released both cortisol and testosterone was successfully removed, improving her health.
June 2025 in “Histopathology” Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
34 citations
,
January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
38 citations
,
February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
5 citations
,
June 2008 in “British Journal of Dermatology” 22 citations
,
August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
February 2020 in “Definitions” KRT72 gene helps form hair.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
1 citations
,
September 2010 in “UEF eRepo (University of Eastern Finland)” Androgen receptors help prostate cancer cells grow and resist drugs.
26 citations
,
March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
1 citations
,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.