11 citations
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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.
38 citations
,
February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
12 citations
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January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
81 citations
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October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that silencing clock genes BMAL1 or PER1 in human hair follicles increased melanin content and melanocyte activity, suggesting these genes influence pigmentation.
176 citations
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February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
4 citations
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February 2023 in “Stem Cell Research & Therapy” This study found that papillary dermal fibroblast progenitors in newborn mouse skin can be isolated and cultured to generate male germline cell precursors, demonstrating their potential through differentiation into cells with meiotic capability.
47 citations
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April 2012 in “The Plant Journal” This study found that mutations in phosphorylation sites on the PIN3 protein disrupt its phosphorylation and subcellular trafficking, affecting auxin transport and root growth in a cell-type-specific manner.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
8 citations
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March 2015 in “Molecular Medicine Reports” This study found that para-phenylenediamine induces cytotoxic effects in normal human hair dermal papilla cells by altering microRNA expression and causing cell death, cell cycle arrest, and oxidative stress.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
August 2013 in “Nature Reviews Drug Discovery” New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
2 citations
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August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
November 2024 in “Journal of Investigative Dermatology”
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study developed a partially automated protocol utilizing hair follicles for DNA extraction in marmosets, achieving reliable whole genome sequencing with low chimerism, offering an efficient alternative to blood for genetic studies in non-human primates.
77 citations
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April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
54 citations
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May 1994 in “Veterinary Pathology” This study found widespread localization of parathyroid hormone-related protein in normal and cancerous canine tissues, suggesting a potential physiological role as a paracrine or autocrine factor.
25 citations
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April 2019 in “Animals” In this study, KRTAP28-1 variants were associated with wool fibre diameter in sheep, suggesting potential as a gene marker for reducing fibre diameter.
1 citations
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May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
15 citations
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January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
April 2012 in “Cancer research” In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.
January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” This study reported that NRP2 expression in melanocytes and melanocyte stem cells is linked to migration inhibition and potentially melanoma progression, suggesting its role as a target for understanding melanoma and hair follicle biology.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.