September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
5 citations
,
June 2008 in “British Journal of Dermatology”
12 citations
,
January 2014 in “Cell structure and function” This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
19 citations
,
April 1999 in “British Journal of Dermatology” This study shows that keratin 2e exhibits distinct temporal and regional expression patterns in fetal epidermis, suggesting different regulatory and functional roles from other epidermal keratins.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
January 2025 in “Journal of Bioresource Management” This study found that inhibiting the ATR kinase with VE-822 impairs DNA repair capability in quiescent human keratinocytes exposed to solar-simulated UV radiation, suggesting ATR's critical role in facilitating effective DNA damage repair and cellular recovery under UV stress conditions.
26 citations
,
February 2021 in “FEBS Journal” This review discusses potential immune therapies targeting regulatory T cells for age-related diseases and emphasizes the need for further research to translate these therapies into clinical practice.
3 citations
,
February 2025 in “Metabolites” In this study, researchers identified specific Se6OMT enzymes in *S. epigaea* involved in the cepharanthine biosynthetic pathway, providing insights into their substrate promiscuity and essential genetic components for metabolic engineering and synthetic biology applications of cepharanthine production.
August 2023 in “Fermentation” This review discusses the potential of metabolic engineering to enable sustainable industrial-scale production of L-aspartate and its derivatives, detailing current microbial production progress, limiting factors, and future prospects with emerging technologies in synthetic biology.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
51 citations
,
January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
December 2024 in “Dermatology”
2 citations
,
September 2020 in “Biomedical materials” This study found that recombinant human hair keratin proteins K31 and K81 show greater potential for inducing skin cell differentiation compared to natural keratin coatings.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
50 citations
,
July 2008 in “British Journal of Dermatology” November 2024 in “Journal of Investigative Dermatology”
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
September 2023 in “Journal of the American Academy of Dermatology” 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.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
25 citations
,
September 2014 in “SpringerPlus” This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.