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.
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.
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.
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.
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.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
33 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
4 citations,
November 2017 in “Scientific Reports” The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
25 citations,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
11 citations,
July 2016 in “Current Opinion in Cell Biology” New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
1 citations,
May 2023 in “Frontiers in Endocrinology” Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
3 citations,
November 2011 in “Small GTPases” Researchers found that hair follicle stem cells can become squamous cell carcinoma due to Ras activation, which could lead to new treatments.
29 citations,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
232 citations,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
18 citations,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
403 citations,
December 2018 in “Cell stem cell” Understanding phenotypic plasticity is crucial for developing effective cancer therapies.