9 citations
,
August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
1 citations
,
July 1990 in “European Journal of Pharmacology” Defective protein folding due to a mutation is key in ANE syndrome.
July 1995 in “Journal of Dermatological Science” 6 citations
,
August 2016 in “Journal of Visualized Experiments” The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
17 citations
,
January 2018 in “Advances in experimental medicine and biology” 22 citations
,
November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
June 2025 in “Rapid Communications in Mass Spectrometry” The new method improves protein extraction and analysis in hair, aiding biomedical and forensic work.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
1 citations
,
February 1991 in “Journal of Biological Chemistry”
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
7 citations
,
April 2019 in “Animal biotechnology” The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
73 citations
,
April 2006 in “BioTechniques” Protein microarrays are highly sensitive tools useful for disease diagnosis and studying proteins.
1 citations
,
April 2015 in “The FASEB journal” UVB exposure increases skin proteins for retinoic acid synthesis and shifts their location, possibly affecting skin repair.
27 citations
,
July 2018 in “Experimental dermatology” Autophagy is crucial for normal sebaceous gland function and sebum composition.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
48 citations
,
July 1996 in “Human & Experimental Toxicology” Human enzymes can detoxify harmful substances but might also increase their cancer risk.
3 citations
,
January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
January 2024 in “Toxicologic Pathology” The skin protects the body, helps heal wounds, stores energy, and supports health.
August 2015 in “MOJ proteomics & bioinformatics” ePUKs could be valuable for regenerative medicine due to their wound healing abilities.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
62 citations
,
August 2006 in “Journal of Chromatography B” Modern techniques have improved the understanding of keratin proteins, revealing their roles in various cells and potential in disease diagnosis.
January 2025 in “Scholarly Commons (University of Pennsylvania)” UTX is important for skin health and its loss can lead to skin issues, especially in females.
5 citations
,
November 2024 in “Biomedicine & Pharmacotherapy” The chitosan-peptide system helps cartilage regeneration using fat-derived cells.
75 citations
,
September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.