December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
January 2019 in “Advances in stem cells and their niches” Krox20 is important for cell differentiation in the brain and hair follicles.
27 citations
,
November 1991 in “Journal of Investigative Dermatology”
9 citations
,
January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
2 citations
,
February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
86 citations
,
May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
215 citations
,
November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
14 citations
,
November 2022 in “Development” Controlling transposable elements is crucial for successful tissue regeneration.
180 citations
,
April 2002 in “Cell Death and Differentiation” 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.
4 citations
,
July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
2 citations
,
March 2010 in “Acta Biochimica Polonica” Raltitrexed conjugates are less potent than the free drug but more effective at high concentrations.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
6 citations
,
January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
133 citations
,
June 1993 in “Molecular and Cellular Biology” The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
109 citations
,
November 2011 in “Nature Neuroscience” March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
April 1996 in “Journal of Dermatological Science” January 2003 in “The Chinese Journal of Burns Wounds & Surface Ulcers” CK 19 expression is higher in more severe skin cancers.