65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
63 citations
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November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” Hair sensitivity to androgens is partly controlled by specific enzyme expressions in different hair areas.
54 citations
,
May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
49 citations
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October 2009 in “Cancer research” Disrupting Stat3 in hair follicle stem cells greatly reduces skin tumor formation.
49 citations
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March 2004 in “Journal of Investigative Dermatology” The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
46 citations
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October 2009 in “Archives of Dermatology” Loose anagen hair syndrome, often affecting young girls, can be diagnosed with a hair-pull test and usually gets better on its own, but severe cases may need treatment.
42 citations
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February 2000 in “Journal of Investigative Dermatology” Type VII collagen absence helps skin development by allowing tissue remodeling.
38 citations
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October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
37 citations
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March 2018 in “Trends in Plant Science” pH, calcium, and reactive oxygen species regulate plant cell growth, with key roles for NADPH oxidases and plasma membrane H+-ATPases.
33 citations
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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.
32 citations
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August 1999 in “Journal of Investigative Dermatology” Early onset hair loss linked to genetics and androgen levels.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
31 citations
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January 2017 in “Advances in Experimental Medicine and Biology” Low testosterone and 5α-reductase inhibitors can harm men's metabolic and sexual health; testosterone therapy may help, but discussing 5α-RIs' side effects is important.
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
27 citations
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December 2016 in “Dermatology and Therapy” Certain skin conditions can indicate insulin resistance and should prompt lifestyle changes and medical treatment to manage underlying health issues.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
21 citations
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August 1994 in “Clinical endocrinology” 5α-Reductase inhibitors can help treat hair loss, acne, and prostate issues by reducing DHT levels.
19 citations
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August 2011 in “Archives of Dermatology” CCCA is a common scarring hair loss in African descent women, possibly linked to genetics, hair care practices, and health issues like diabetes.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
12 citations
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June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
12 citations
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June 2007 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” A reliable model for screening type II 5α-reductase inhibitors was created and validated.
10 citations
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January 2017 in “Dermato-Endocrinology” Scarring folliculitis type of acne inversa is linked to specific symptoms and lifestyle factors like smoking and being overweight.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
9 citations
,
June 2020 in “Animal genetics” Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.