42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
3 citations
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November 2020 in “Journal of The American Academy of Dermatology” This paper discusses the proposal that androgenetic alopecia, as seen in the "Gabrin sign", could indicate higher risk of severe COVID-19 symptoms, but its validity is questioned and further confirmation is needed.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
19 citations
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March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
15 citations
,
June 2011 in “British Journal of Dermatology” This study observed a potential association between the CC genotype of rs4646 and female pattern hair loss, but the authors advise caution due to lack of experiment-wide significance and recommend replication.
9 citations
,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
556 citations
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September 2008 in “Genes & Development” This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.
18 citations
,
February 2012 in “Experimental Dermatology” This study found no significant association between selected gene variants and female pattern hair loss, suggesting these genes might not be involved in its development.
74 citations
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June 2018 in “Cell death and disease” In this study, researchers found that depleting mtDNA in mice caused skin wrinkles and hair loss but restoring mitochondrial function reversed these effects, highlighting mtDNA's significant role in skin and hair health.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
19 citations
,
July 2020 in “EBioMedicine” In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.
50 citations
,
September 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found no evidence of androgen deficiency or decreased peripheral androgen action in men with persistent sexual symptoms after finasteride use, but identified links to depressed mood and abnormal brain function.
40 citations
,
January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
329 citations
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January 1997 in “Journal of the American Academy of Dermatology” This study reports that progressive frontal fibrosing alopecia, a distinct and gradually stabilizing form of lichen planopilaris affecting elderly women and often involving eyebrow hair loss, lacks effective treatments.
62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
December 2024 in “Era s journal of medical research” This source reports that PCOS, a complex endocrinal condition, is characterized by hyperandrogenism, which leads to symptoms like hirsutism, acne, and alopecia; genetic factors and hypothalamic-pituitary-ovarian axis disruption play significant roles in its development, but more research is needed to understand these mechanisms fully.
September 2023 in “Nature Communications” In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders.
January 2015 in “Springer eBooks” Hair health is influenced by genetics, aging, and environmental factors, with proper care needed to maintain it.
30 citations
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March 2011 in “Australasian Journal of Dermatology” This case report found that a woman's hair loss, which progressed while using spironolactone and topical minoxidil, reversed after switching to flutamide therapy.
9 citations
,
February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
21 citations
,
December 2013 in “Archives of Dermatological Research” No link found between new male baldness genes and female hair loss.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
February 2025 in “Plastic and Aesthetic Research” In this study, after long-term observation of human scalp hair follicles over 16 years, the researchers found that a topical 5% minoxidil solution could stimulate hair regrowth after a period of dormancy, though with reduced growth rates and hair diameter.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
January 2024 in “Aging medicine” This report presents a case of a CKD patient who, after contracting COVID-19, experienced a rapid decline in kidney function, hair loss, and spontaneous wart remission, highlighting a need for further investigation into these unexpected outcomes.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
188 citations
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May 2009 in “Plant physiology” This study identified 19 specific genes involved in root hair growth and morphogenesis in Arabidopsis, using a combination of computational and experimental methods.