49 citations
,
July 2000 in “Journal of Histochemistry & Cytochemistry” POMC-derived peptides are important for skin functions like immune response and stress management.
24 citations
,
September 2023 in “Science Advances” Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.
3 citations
,
February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” Sarcoidosis can mimic other skin disorders, making diagnosis challenging.
1 citations
,
September 2017 in “Journal of Investigative Dermatology” Blocking a specific enzyme can reduce the negative impact of stress hormones on hair growth cells.
218 citations
,
December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
63 citations
,
December 2013 in “PLoS ONE” Finasteride may reduce prostate cancer spread by lowering certain enzyme levels.
17 citations
,
December 2004 in “Bioorganic & Medicinal Chemistry Letters” Scientists found new, better-working inhibitors for a hormone-related enzyme.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
6 citations
,
December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” Certain gene variants are linked to severe acne, especially in males.
5 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” Enzymes called PADIs play a key role in hair growth and loss.
6 citations
,
December 2021 in “International Journal of Endocrinology” The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
29 citations
,
September 2017 in “Genes” Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
24 citations
,
June 2013 in “Journal of neuroendocrinology” Neuroactive steroids and the enzyme 5α-reductase might be involved in the development of Tourette's syndrome.
16 citations
,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
2 citations
,
September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
36 citations
,
August 2016 in “The Plant cell” A specific enzyme is crucial for the bean plant's relationship with certain beneficial soil bacteria and fungi.
3 citations
,
July 2023 in “Biomolecules” B2m-free HLA variants may be a new class of HLA important in immune responses and diseases.
12 citations
,
June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
9 citations
,
September 2023 in “Viruses” The XBB lineage of the Omicron variant spread rapidly in Southeastern Wisconsin.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.