402 citations
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August 2011 in “Cancer research” This study found that castration-resistant prostate cancers resistant to CYP17A1 inhibitors may still depend on steroids and could respond to therapies targeting de novo intratumoral steroid synthesis.
26 citations
,
September 2010 in “Experimental Dermatology” In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
July 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review discusses the evolution of Cereblon ligands in PROTAC technology, highlighting chemical innovations that may enhance drug-likeness and applicability in protein degradation, while noting challenges and future research directions.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
32 citations
,
April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
3 citations
,
May 2025 in “Plant Cell & Environment” This study found that in Arabidopsis, the CLE14 peptide regulates root hair growth by promoting elongation, an effect that requires CLV2 and CRN proteins and involves ethylene signalling along with hydrogen peroxide and nitric oxide pathways.
8 citations
,
September 2020 in “Genes & Genomics” 11 citations
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September 2023 in “Nature Communications” In this study, researchers found that the cell surface protein Lrig1 plays a crucial role in regulating the suppressive function of regulatory T cells, suggesting it as a potential target for treating autoimmune diseases, as evidenced by experiments in mouse models.
June 2025 in “International Journal of Nephrology and Renovascular Disease” This study suggests that PLA2R1 overexpression in PMN affects the podocyte cycle and may involve an additional immune response, which could provide new directions for PMN treatment development.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
4 citations
,
February 2024 in “Anais Brasileiros de Dermatologia”
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
April 2012 in “Development” This study found that Rac1 activity in specific skin compartments is sufficient for hair formation, but results in hair with altered structure and pigmentation compared to normal.
286 citations
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April 2009 in “The journal of neuroscience/The Journal of neuroscience” This study found that TRPA1-deficient mice exhibited normal cold sensitivity but had decreased mechanical response in nociceptors, suggesting TRPA1's role in mechanotransduction.
2 citations
,
September 2022 in “World Rabbit Science” This study found that the WIF1 gene may play a crucial role in hair follicle growth and development in Angora rabbits by regulating specific genes and proteins.
7 citations
,
October 2018 in “BMC genomics” This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.
This study found that targeting S1PR1 signaling in mouse aortic endothelial cells helps suppress inflammation-related gene expression while revealing diverse and spatially distinct endothelial cell subtypes.
3 citations
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February 2022 in “Frontiers in Genetics” This study found that overexpression of the lncRNA AC010789.1 in hair follicle stem cells may suppress androgen alopecia progression by modulating several molecular pathways, suggesting a potential new treatment strategy.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” This study reported variable expression levels of TRα and CRABPII genes during the prenatal development of cashmere goats, contributing to an understanding of hair follicle formation in these animals.
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.
September 2023 in “Plant journal” This study showed that the zinc finger protein GIS3 is important for root hair growth in Arabidopsis by regulating RHD2 and RHD4 genes, with application of ethylene and cytokinin helping restore root hair presence in mutated variants.
17 citations
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June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
11 citations
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February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
11 citations
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May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.