81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
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December 2018 in “Genetics in Medicine” Pegvaliase is recommended for treating adults with phenylketonuria.
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May 1972 in “Journal of Biological Chemistry” Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
Cadd4 effectively reduces cholesterol levels without side effects.
56 citations
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December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
2 citations
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September 1980 in “Experientia” Polyethylene alanine caused hair loss in young lab animals but not in adults, with hair regrowth occurring within 20 days.
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June 2025 in “Gut Microbes” BroadAMP-GPT effectively creates antimicrobial peptides to fight drug-resistant bacteria.
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December 2018 in “Plant, cell & environment/Plant, cell and environment” A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
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February 1997 in “Bioorganic & Medicinal Chemistry” New compounds were made that effectively block a specific enzyme related to androgen conditions.
November 2025 in “Advanced Science” A new nanozyme using EGCG and L-arginine boosts hair growth by safely increasing beneficial oxidative stress.
71 citations
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May 2024 in “New England Journal of Medicine” Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
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October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
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October 2001 in “Biochemical Pharmacology” GI198745 is more potent and longer-lasting than finasteride, potentially better for treating hair loss.
January 2017 in “Seoul National University Open Repository (Seoul National University)” AIMP1 can boost hair growth by increasing stem cell activity.
September 2018 in “Journal of Experimental & Biomedical Sciences” DK peptides can reduce hair loss by inhibiting the 5α-reductase enzyme and have antioxidant effects.
April 2023 in “Journal of Investigative Dermatology” Treprostinil, a drug, can delay wound healing in healthy cells but doesn't affect diabetic foot ulcer cells, suggesting further research could help understand its role in treating these ulcers.
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
3 citations
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September 2021 in “Bulletin of the Korean Chemical Society” Dimeric peptide derivatives could help hair growth and treat hair loss safely.
Defective protein folding due to a mutation is key in ANE syndrome.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.