72 citations
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
August 2024 in “Clinical Cosmetic and Investigational Dermatology” Enzyme injections can effectively treat epidermoid cysts without surgery.
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January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
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January 1997 in “EXPERIMENTAL ANIMALS” Histamine and its enzyme may help start hair regrowth.
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June 2023 in “Frontiers in Pharmacology” Vasodilators may worsen abdominal aortic aneurysm.
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January 1981 Nucleophilic reagents break down hair keratin, forming more lanthionine and lysinoalanine than in wool.
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December 2006 in “Bone” Exemestane may protect bones by stimulating osteoblast growth through androgen-related pathways.
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
1 citations
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January 2019 in “Advances in Medical Sciences” The combination of azelaic acid, minoxidil, and caffeine significantly increased the survival of skin flaps by affecting certain body channels and nitric oxide levels.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The ALADIN score can predict how well patients with alopecia areata will respond to JAK inhibitor treatments.
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November 2013 in “Dermatologic Therapy” New test predicts if hair loss treatment will work.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
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December 2017 in “Skin appendage disorders” WNT7A gene expression is higher in early stages of androgenetic alopecia, showing the role of WNT pathway, apoptosis, and inflammation in the disorder.
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August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
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September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
April 2023 in “Journal of Investigative Dermatology” SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
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January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
May 2023 in “Research Square (Research Square)” Botulinum toxin type A helps treat hair loss by stopping cell death in hair follicles through a process involving certain non-coding RNAs and a protein called Bax.
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
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January 1984 in “Molecular and Cellular Biochemistry” 16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
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February 2025 in “Advanced Materials” The hydrogel speeds up diabetic wound healing by adapting to glucose levels and releasing insulin.
March 2025 in “Jurnal Farmamedika (Pharmamedica Journal)” Procyanidin from Indonesian spices may help heal diabetic wounds.
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.