147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
46 citations
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May 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
39 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
28 citations
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November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
24 citations
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January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
17 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
15 citations
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June 2011 in “British Journal of Dermatology” No link found between aromatase gene and female hair loss.
13 citations
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January 2019 in “Endocrine journal” Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
8 citations
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April 2015 in “British Journal of Dermatology” White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
7 citations
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May 2010 in “British Journal of Dermatology” Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.
5 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
5 citations
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January 2015 in “Skin appendage disorders” Colored hair-thickening fibers can help hide hair loss in some people with Epidermolysis Bullosa but may cause scalp irritation.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
August 2024 in “Journal of Dermatology & Cosmetology” Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
788 citations
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February 2007 in “Nature” The document concludes that skin stem cells are important for hair growth and wound healing, and could be used in regenerative medicine.
9 citations
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August 2014 in “Journal of The American Academy of Dermatology” Hormonal imbalances may play a role in frontal fibrosing alopecia, and antiandrogenic drugs combined with steroids are currently the most effective treatment.
31 citations
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January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
23 citations
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May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
7 citations
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October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
3 citations
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February 2016 in “Dermatologic Therapy” Using minoxidil and tretinoin on the skin, along with oral vitamin D, improved hair thickness and density in two girls with woolly hair.
3 citations
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October 1979 in “Laboratory animals” Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
150 citations
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November 2007 in “The Journal of Clinical Endocrinology and Metabolism” About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
138 citations
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June 2012 in “Genes & Development” Sonic hedgehog signaling is crucial for hair growth and maintaining hair follicle identity.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.