January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
47 citations
,
June 2019 in “Nature Communications” Noncoding dsRNA boosts hair growth by activating TLR3 and increasing retinoic acid.
August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
8 citations
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January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
8 citations
,
August 2015 in “Journal of dermatological science” Rhododendrol in skin-whitening products can cause skin depigmentation and immune reactions.
5 citations
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June 2020 in “Experimental dermatology” Redheaded people may have evolved to efficiently make vitamin D in areas with less sunlight.
1 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
48 citations
,
January 2011 in “Neuropharmacology” Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
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.
5 citations
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March 2019 in “Experimental dermatology” Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
29 citations
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July 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Aldh1a2 and Aldh1a3 are involved in making retinoic acid in hair follicles and have different roles in hair growth.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
December 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Redheaded people have higher levels of a vitamin D precursor, suggesting red hair may be an adaptation for better vitamin D synthesis in areas with less sunlight.
13 citations
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June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
42 citations
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May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.
March 2026 in “Microchemical Journal”
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
29 citations
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May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.