A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
18 citations
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February 2007 in “Journal of Investigative Dermatology” Deleting Rac1 in the skin depletes stem cells and damages hair follicles.
1 citations
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August 2025 in “Epigenetics & Chromatin” H3K4me3 helps control RSPO3 to influence hair growth and development.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
1 citations
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
59 citations
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
7 citations
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January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.
November 2022 in “Journal of Investigative Dermatology” Growth hormone-releasing hormone (GHRH) boosts hair growth and human scalp hair follicles have their own growth hormone system.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Rhamnose may help hair growth and pigmentation, making it a potential treatment for hair loss.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
April 2026 in “World Allergy Organization Journal” Allergic rhinitis increases hair loss risk, but antihistamines can reduce it.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells and certain hair follicle areas produce hemoglobin, which may help protect against oxidative stress like UV damage.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
March 2020 in “Journal of lasers in medical sciences” Laser therapy on human skin affects the HERC6 gene and related genes, influencing many cell processes and requiring careful safety measures.
21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.