56 citations
,
December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
11 citations
,
June 2017 in “Journal of cell science” In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.
118 citations
,
May 2003 in “Toxicological Sciences” This study found that prenatal exposure to finasteride in rats led to permanent changes in developmental endpoints like anogenital distance and nipple retention, which were predictive of further reproductive tract malformations.
This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
May 2026 in “BMC Medicine” This study found that ACOD1 deficiency in dermal papilla cells promotes mitochondrial dysfunction and contributes to cellular senescence in androgenetic alopecia, suggesting ACOD1 as a potential therapeutic target and 4-octyl itaconate as a promising treatment option for AGA.
In this study, a newly designed protein degrader targeting androgen receptors showed promise in reversing hair regrowth inhibition in a mouse model of androgenetic alopecia, suggesting potential as a novel and safe treatment strategy.
205 citations
,
March 2012 in “Science Translational Medicine” PGD2 stops hair growth and is higher in bald men with AGA.
63 citations
,
May 2015 in “PloS one” This study found that GALT5 and GALT2 are redundant enzymes essential for O-glycosylation of AGPs, with mutations leading to significant growth and development defects in plants.
280 citations
,
January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
24 citations
,
January 2000 in “Dermatology” This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.
80 citations
,
January 1995 in “The American Journal of Medicine” Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
September 2024 in “Journal of the American Academy of Dermatology” In this study, a novel compound named AH-001 demonstrated effective androgen receptor protein degradation, reducing hair loss progression in a mouse model of androgenetic alopecia, with minimal systemic exposure and side effects, suggesting potential for safer treatment.
1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” This study found that the ACE gene I/D polymorphism may serve as a genetic susceptibility indicator for androgenetic alopecia in an Egyptian patient group.
6 citations
,
June 2023 in “Journal of the European Academy of Dermatology and Venereology” This study observed that inflammatory AIGA is associated with sweat duct inflammation and sweat coil atrophy, while non-inflammatory AIGA involves only sweat coil atrophy, suggesting distinct pathological features between the two.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
4 citations
,
July 2020 in “Biochemical and Biophysical Research Communications” This study suggests that EDA-A2 induces apoptosis in hair follicles by increasing DKK-1 expression, implicating EDA2R signaling as a potential therapeutic target for androgenetic alopecia.
April 2023 in “Journal of Investigative Dermatology” In this study, a novel AR protein degrader was shown to reverse DHT-induced hair regrowth delay in a mouse model of androgenetic alopecia, with minimal circulation and potential side effects.
9 citations
,
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” In this study, PGD2 was shown to increase testosterone production in human keratinocytes through reactive oxygen species, suggesting potential benefits of antioxidants like N-acetyl-cysteine for AGA patients.
12 citations
,
July 2015 in “Experimental Dermatology” This study found that overexpression of Gsdma3 in mice led to epidermal hyperplasia, skin inflammation, and hair growth defects, suggesting gain-of-function mutations in Gsdma3 cause these conditions.
This study identified CXXC5 as a key mediator of hair loss induced by PGD2 and DHT via suppression of the Wnt/β-catenin pathway, with implications for potential therapeutic targets.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
42 citations
,
April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
3 citations
,
November 2021 in “Journal of The American Academy of Dermatology” This article discusses hormonal mechanisms underlying androgenetic alopecia but does not report any new findings; it reviews the roles of dihydrotestosterone and available FDA-approved treatments.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
July 2024 in “Journal of Investigative Dermatology” This study found that inhibiting the enzyme PDE8A can promote adipocyte differentiation and enhance hair growth in an animal model of androgenetic alopecia, suggesting PDE8A as a potential therapeutic target for restoring dermal adipogenesis and hair cycling.