18 citations
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April 2011 in “Neuropharmacology” 11β-Hydroxylase inhibitors help prevent seizures in mice by boosting natural neurosteroid production.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
1 citations
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April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.
58 citations
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February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
66 citations
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August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
8 citations
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January 2016 in “Journal of fiber science and technology” Bleaching hair increases cysteic acid levels in a predictable way.
18 citations
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November 2016 in “Transgenic research” Overexpressing Tβ4 in cashmere goats improves hair fiber traits and increases cashmere yield.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
25 citations
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May 2003 in “Expert Opinion on Therapeutic Patents” Steroid Sulfatase inhibitors show promise in treating hormone-dependent disorders like cancers, hair loss, and acne, with 667COUMATE being a potential candidate for breast cancer treatment trials.
10 citations
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October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
55 citations
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December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
35 citations
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July 2010 in “The FEBS journal” The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” Topical IKKα inhibitors may help prevent CCS tumours.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
2 citations
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January 2011 in “Andrologia” Flutamide and a new synthetic steroid affected brain and prostate chemicals and showed potential for treating androgen-related conditions and epilepsy.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
A molecule called α-ketobutyrate was found to extend lifespan and improve aging-related symptoms in worms and mice by activating certain cellular pathways and may help develop anti-aging treatments for humans.
7 citations
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March 2025 in “Cytotechnology”
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
1 citations
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March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.