January 2022 in “Social Science Research Network” Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
26 citations
,
December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
2 citations
,
April 2022 in “Research Square (Research Square)” Activating PKM2 and Wnt/β-catenin signaling together can potentially enhance hair growth and could be a treatment for hair loss.
October 2024 in “Journal of the American Society of Nephrology” Some CKD patients' kidney function remains stable over time.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
2 citations
,
December 2022 in “Pharmaceutics” The enzyme pyruvate kinase M2 helps hair regrowth and could be a potential treatment for hair loss.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
135 citations
,
October 1999 in “Journal of Cell Science” Overexpressing PKCα in mice skin increases inflammation but doesn't affect tumor growth.
April 2017 in “Journal of Investigative Dermatology” Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
76 citations
,
February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
35 citations
,
January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
10 citations
,
July 2023 in “Pharmaceutics” Activating PKM2 and Wnt/β-catenin signaling speeds up wound healing.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
60 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” Applying a specific inhibitor lightens skin and hair color.
September 2016 in “Journal of Dermatological Science” The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
February 2026 in “HCA Healthcare Journal of Medicine” Recognizing keratosis pilaris in all skin tones helps diagnose related skin issues and reduce distress.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
74 citations
,
September 2003 in “The Journal of Immunology” Activating PKCα in skin causes cell death and inflammation through different pathways.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
April 1977 in “Pediatric Research”
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.