4 citations,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
3 citations,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
3 citations,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
3 citations,
April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
2 citations,
September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
1 citations,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
1 citations,
September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
January 2020 in “Archives of Medicine and Health Sciences” Certain immune molecules and stress affect hair loss, and while genes play a role, more research is needed to fully understand and treat it.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
305 citations,
March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
169 citations,
February 2018 in “Immunity” Inactive stem cells in hair follicles and muscles can avoid detection by the immune system.
163 citations,
October 2001 in “EMBO journal” Overexpressing follistatin in mice delays wound healing and reduces scar size.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
149 citations,
January 2011 in “Nature reviews. Urology” Hormonal interactions, especially involving DHT and estrogen, play a key role in BPH development and treatment.
128 citations,
December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
127 citations,
January 2008 in “PloS one” Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
114 citations,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
109 citations,
February 2018 in “CB/Current biology” ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
103 citations,
December 2021 in “Journal of biological rhythms” Shift work disrupts the body's natural clock, leading to health problems.
101 citations,
March 2019 in “Cell Stem Cell” Certain immune cells in the skin release a protein that stops hair growth by keeping hair stem cells inactive.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
73 citations,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
56 citations,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
50 citations,
February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
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.