9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
53 citations
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May 1988 in “Journal of Molecular Evolution” July 2025 in “Journal of Investigative Dermatology” 1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” TRα and CRABPII genes change their activity levels during goat fetal skin development.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
100 citations
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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.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
14 citations
,
October 2015 in “PLoS ONE” Keratin 14 is uniquely found in a specific group of placental cells.
30 citations
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June 2000 in “Journal of dermatological science” Human keratinocytes do not naturally respond to androgens.
6 citations
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January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
1 citations
,
April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
19 citations
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December 2015 in “Journal of Investigative Dermatology” The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
94 citations
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October 1994 in “The Journal of Cell Biology” Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.