January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” This study found that overexpression of the metabolic enzyme PHGDH can promote cancer initiation and progression, highlighting its significant role in tumor cell proliferation and tumorigenesis.
1 citations
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January 2019 in “PubMed” This study found that transgenic mice expressing cgVEGF164 had increased hair follicle diameter and density, potentially linked to higher phosphorylation levels of ERK1/2, AKT1, and LEF1 proteins.
January 2026 in “Journal of Dermatological Treatment” This source discusses a Phase 2 trial by Hu et al. that evaluated the efficacy of topical GT20029 compared to a placebo, though the abstract does not provide specific results.
May 2008 in “Hair transplant forum international” This abstract provides no results, as it only notes Sharon Keene's professional role and describes a non-blood test for AGA genetics.
1 citations
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October 2023 in “Frontiers in Oncology” This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.
51 citations
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February 2009 in “Journal of dermatological science” In this study, β-catenin overexpression in human hair outer root sheath cells increased the expression of Pitx2, which activated the follicular differentiation pathway, suggesting Pitx2's potential role as a modulator in hair growth control.
45 citations
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July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
July 2025 in “The Egyptian Journal of Hospital Medicine” This study found that serum GPER-1 levels may serve as a biomarker for differentiating androgenetic alopecia from telogen effluvium and healthy controls, although its ability to distinguish between AGA and TE is limited.
211 citations
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February 1994 in “Proceedings of the National Academy of Sciences” This study found that overexpression of parathyroid hormone-related peptide in transgenic mice skin disrupted normal hair follicle development, suggesting a role for the peptide in the early stages of follicle formation.
40 citations
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January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
24 citations
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December 2013 in “Archives of Dermatological Research” 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.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
March 2011 in “European Urology Supplements” Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.
5 citations
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August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
February 2023 in “Materials today bio” In this study, researchers developed a promising transdermal agent using Triton X-100-modified polyethyleneimine that successfully delivered genetic material to hair follicle cells in mice, potentially alleviating hair loss due to androgenetic alopecia by promoting cell proliferation and inhibiting apoptosis.
52 citations
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July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
1 citations
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August 2023 in “Journal of cutaneous pathology” This case report describes an 8 cm giant pilomatricoma on a 67-year-old man's scalp, revealing distinct transcriptional patterns related to hair follicle factors and keratin through spatial gene expression analysis.
November 2025 in “Cancer Management and Research” This study highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
10 citations
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October 2000 in “PubMed” This study found that transgenic mice expressing HPV E6/E7 in the outer root sheath experience continuous hair follicle cycling due to delayed catagen entrance and insensitivity to telogen resting signals.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
12 citations
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September 2024 in “Frontiers in Immunology” This study found that metabolism-related genes significantly impact the prognosis and metastasis in breast cancer, and the development of prediction models may guide personalized therapeutic strategies.
6 citations
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January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
January 2023 in “Open Life Sciences” This study found that VEGFR-2 activation may play a role in hair follicle differentiation, proliferation, and apoptosis by co-expressing with several key proteins in normal human scalp skin.
September 2016 in “Journal of dermatological science” This study identified TSC2 as an important regulator of hair follicle morphogenesis and patterning, with Tsc2cKO mice showing altered hair patterns and frequencies compared to controls.
22 citations
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May 2002 in “Skin Research and Technology” This study found that in male androgenetic alopecia, the contrast enhanced phototrichogram technique was superior in detecting changes in hair density and thickness compared to other methods.