11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
8 citations,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
4 citations,
June 2020 in “British Journal of Pharmacology” Activating TRPV4 in skin cells helps regrow hair in mice, possibly offering a treatment for hair loss.
[object Object] February 2024 in “PloS one” Nutraceuticals that promote hair growth do not reduce tamoxifen's effectiveness in breast cancer treatment.
January 2024 in “GeroScience” Using radiation to make mice's hair turn gray helps study and find ways to prevent or reverse hair graying.
December 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” The summit aimed to speed up finding treatments for alopecia areata.
April 2015 in “Andrology” HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
2 citations,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
2 citations,
October 2022 in “British journal of haematology” A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
January 2025 in “European Journal of Pharmacology” Forsythoside A may help treat hair loss by blocking specific channels.
6 citations,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Alopecia areata involves complex immune and genetic factors, with potential treatment targets identified, but more research is needed.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
77 citations,
September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
13 citations,
June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
11 citations,
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
[object Object] 6 citations,
September 2023 in “International journal of molecular sciences” Oxidative stress worsens PCOS by damaging cells and disrupting metabolism, suggesting antioxidant treatments might help.
2 citations,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
5 citations,
September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
1 citations,
March 2023 in “PloS one” Different amounts of daylight affect cashmere growth in goats by changing the activity of certain genes and molecules.
2 citations,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
10 citations,
March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
3 citations,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
1 citations,
September 2023 in “Clinical, cosmetic and investigational dermatology” Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.