91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
January 2006 in “Chinese Journal of Dermatology” Shorter GGC triplet repeats in the androgen receptor gene are linked to less hair loss in Han men.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
7 citations
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July 2019 in “International Journal of Molecular Sciences” PGA-4HGF may help treat hair loss by activating hair growth pathways and extending the hair growth phase.
February 2024 in “Experimental Dermatology” IGFBP-rP1 could be a new treatment for a common type of hair loss.
107 citations
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June 1997 in “PubMed” EGFR is essential for normal hair development and follicle differentiation.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
1 citations
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January 2016 in “Asian-Australasian journal of animal sciences” The protein Gnαs is found more in black mice than white mice and may influence their coat color.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
November 2025 in “Journal of Pharmacy and Pharmacology” PEDF reduces oxidative damage and supports stem cells.
April 2011 in “Cancer Research” 20(S)-Protopanaxadiol-aglycone may help prevent and treat prostate cancer by reducing androgen receptor activity.
1 citations
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February 2023 in “Frontiers in Endocrinology” Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
3 citations
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
November 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” CD25+ CD4+ Tregs and certain plasma proteins are linked to hair loss.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
August 2013 in “Nature Reviews Drug Discovery” A protein called FGF9 helps regenerate hair follicles in mice after skin damage, and increasing FGF9 could potentially help human hair growth.
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.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
2 citations
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May 2023 in “Biology” New mouse models of Pemphigus show severe symptoms and need better treatments.
10 citations
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January 2019 in “Advances in Clinical and Experimental Medicine” Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.
38 citations
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January 2017 in “PPAR Research” PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
1 citations
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.