111 citations,
November 2010 in “Human Reproduction” South Asian women with PCOS are more likely to have metabolic issues and central obesity, and simple measures like waist size and blood pressure can help identify these risks early.
39 citations,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
35 citations,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
32 citations,
January 2012 in “Clinical & Developmental Immunology” Targeting CD200 could be a new treatment for rheumatoid arthritis.
9 citations,
March 1998 in “Journal of Dermatological Science” Improper regulation of hair follicle processes causes hairlessness.
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.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
7 citations,
October 2012 in “S. Karger AG eBooks” Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
6 citations,
May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
June 2003 in “Obstetrical & Gynecological Survey” Postmenopausal ovary stromal cells have a unique makeup and limited steroid production, suggesting androgens come from the adrenal gland.
53 citations,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
11 citations,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
32 citations,
April 2016 in “Journal of Obstetrics and Gynaecology Research” Women with severe types of PCOS are more likely to have metabolic syndrome, and belly fat is a key predictor of this risk.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
96 citations,
December 2018 in “Immunity” Targeting TGFβ can improve skin immunity in older people.
44 citations,
August 2008 in “Plant journal” D'orenone stops root hair growth by disrupting auxin transport, but adding auxin can reverse this.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
5 citations,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
October 2018 in “InTech eBooks” The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
40 citations,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
12 citations,
February 2017 in “International journal of developmental neuroscience” Female guinea pigs exposed to less allopregnanolone before birth showed more anxiety-like behavior.
1 citations,
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Fetal skin has unique immune cells different from adult skin.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.