October 2024 in “Journal of the American Society of Nephrology” Some CKD patients' kidney function remains stable over time.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
87 citations
,
September 2006 in “Clinical Cancer Research” Protein Kinase C shows promise for cancer treatment, but more research is needed to develop effective inhibitors.
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.
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.
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.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
August 2015 in “MOJ proteomics & bioinformatics” ePUKs could be valuable for regenerative medicine due to their wound healing abilities.
2 citations
,
December 2022 in “Pharmaceutics” The enzyme pyruvate kinase M2 helps hair regrowth and could be a potential treatment for hair loss.
10 citations
,
July 2023 in “Pharmaceutics” Activating PKM2 and Wnt/β-catenin signaling speeds up wound healing.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
5 citations
,
January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
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.
February 2026 in “HCA Healthcare Journal of Medicine” Recognizing keratosis pilaris in all skin tones helps diagnose related skin issues and reduce distress.
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.
76 citations
,
February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
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.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
28 citations
,
February 1999 in “Journal of Investigative Dermatology” Urokinase, a type of protein, helps skin cells multiply faster, especially in newborn mice.
1 citations
,
January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
June 2025 in “Frontiers in Immunology” Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
35 citations
,
January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
74 citations
,
September 2003 in “The Journal of Immunology” Activating PKCα in skin causes cell death and inflammation through different pathways.