March 2026 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
4 citations
,
November 2022 in “Frontiers in endocrinology” The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
3 citations
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January 2008 in “Drug Safety” January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
4 citations
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July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.
June 2025 in “Journal of Kufa for Chemical Sciences” 3βHSD2 is not useful for diagnosing PCOS.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
108 citations
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July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
119 citations
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August 2010 in “Journal of Investigative Dermatology” Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
2 citations
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September 2024 in “Expert Opinion on Drug Metabolism & Toxicology” Ritlecitinib is an effective new treatment for Alopecia Areata.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
August 1993 in “Journal of Dermatological Science” January 2004 in “Linchuang pifuke zazhi” All-trans retinoic acid helps amelanotic melanocytes in hair follicles develop and produce pigment while reducing their growth.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.
3D models from confocal microscopy improve melanoma detection on sun-damaged skin.
Vitamin D receptor actions without binding are crucial for healthy skin and hair.
42 citations
,
August 1995 in “British journal of dermatology/British journal of dermatology, Supplement” RXR-alpha is strongly expressed in both normal and psoriatic skin and may help in skin cell differentiation and hair growth.
2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
10 citations
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August 1998 in “Journal of Investigative Dermatology”
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
28 citations
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August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.