May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
101 citations
,
September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
July 2024 in “Journal of Investigative Dermatology” 10 citations
,
July 1980 in “British Journal of Dermatology” Topical putrescine and spermine increased DNA synthesis in hairless mouse skin.
116 citations
,
April 1986 in “The journal of cell biology/The Journal of cell biology” Trichohyalin is a protein in hair follicles that helps form hair filaments.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
75 citations
,
March 2007 in “Journal of Biological Chemistry” QSOX enzymes help form protein bonds in cells, especially in tissues with high secretory activity.
51 citations
,
December 2006 in “Mammalian Genome” 7 citations
,
April 1996 in “British Journal of Dermatology” Hair structural proteins are synthesized sequentially in specific cells, offering a new way to study hair proteins and defects.
80 citations
,
December 1996 in “Pain” Disruption of glycinergic circuits increases pain sensitivity, suggesting new pain treatment options.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
21 citations
,
November 2019 in “Molecular & Cellular Proteomics” Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
Defective nuclear transport may cause gene expression changes in Progeria.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
October 2025 in “Advanced Materials” New lipid/fiber microplexes improve mRNA therapy for degenerative diseases by enhancing cell function and treatment effectiveness.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
5 citations
,
May 2018 in “Veterinary dermatology” Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
41 citations
,
April 2009 in “Journal of comparative neurology” P2X3-IR fibers are widespread in rat skin and likely help detect pain.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
7 citations
,
February 1998 in “Polymer journal” Keratin structure in hair is stable at pH 5-6 but disrupts between pH 6-7.