May 2026 in “Frontiers in Medicine” This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.
9 citations
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August 2024 in “Tissue Engineering and Regenerative Medicine” In this study, researchers suggest that strategic early intervention during fetal wound healing could lead to significantly improved long-term skin regeneration outcomes.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
October 2025 in “Animal Bioscience” This study identified important lncRNAs and genes associated with cashmere shedding in goats and explored their regulatory interactions, providing insights into the molecular mechanisms that may underlie this phenomenon.
22 citations
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June 2020 in “iScience” This study found that disrupting Sox21 in developing teeth leads to severe enamel hypoplasia, regional osteoporosis, and abnormal hair formation, with impaired dental epithelial differentiation and regulation of hair follicle cell fate.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
August 2024 in “Journal of Dermatology & Cosmetology” This case study reports a patient with Rothmund-Thomson syndrome manifesting later in life, who was treated with acitretin to prevent non-melanoma skin cancer associated with the condition.
18 citations
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July 2014 in “Molecular Medicine Reports” This study found that UVB radiation significantly alters miRNA expression and induces cytotoxicity and apoptosis in normal human dermal papilla cells.
5 citations
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January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
November 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study identified melatonin as a potential treatment for rosacea and Alzheimer's disease, suggesting it may help by modulating inflammatory and vascular signaling pathways.
32 citations
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August 2019 in “Nature Communications” In this study, researchers found that alkylating chemotherapy causes hair follicle stem cells to lose their regenerative ability by initially triggering proliferation followed by apoptosis, leading to permanent regeneration loss.
7 citations
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June 2022 in “Czech Journal of Animal Science” This study identified 21 novel circular RNAs in cashmere goats, with nine significantly more expressed during the anagen phase of hair follicle growth, suggesting roles in hair regeneration and cashmere yield enhancement.
June 2026 in “The Journal of the Kyushu Dental Society” This study reviews the development of a mouse model using pyroxylin to induce localized hair growth and shorten the hair cycle's resting phase, suggesting it as a platform for evaluating hair growth treatments, though further research is needed for human application.
1 citations
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July 2023 in “Communications biology” In this study, researchers found that deleting Med1, a key epigenetic regulator in dental epithelia, led to hair growth on mouse incisors by altering enhancer landscapes and causing a switch from dental to hair lineage transcription programs.
7 citations
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January 2023 in “Journal of Hematology & Oncology” This review discusses how targeting protein degradation processes may help overcome cancer drug resistance, but reports no new clinical results and suggests further research for precise therapeutic strategies.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
26 citations
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September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
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.
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 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” This review highlights the role of the APCDD1 gene and associated pathways in hair follicle biology, offering new perspectives on genetic contributors to hair loss and suggesting potential avenues for developing targeted treatments and preventive strategies.
7 citations
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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.
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.
6 citations
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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.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.