April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
26 citations
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August 2019 in “Stem Cell Research & Therapy” This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.
9 citations
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November 2021 in “Frontiers in Cell and Developmental Biology” This study found that PBX1 overexpression reduces hair follicle-derived mesenchymal stem cell senescence and apoptosis by alleviating ROS-mediated DNA damage, rather than enhancing DNA repair.
17 citations
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May 2021 in “Journal of Cell Science” In this study, the researchers discovered that specific polyamine depletion enhances stemness in hair follicle stem cells through a mechanism independent of mRNA translation.
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.
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.
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.
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.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In a mouse model study, researchers observed that the absence of MCPIP1 in myeloid cells decreased susceptibility to chemically induced skin papillomas but caused significant hair loss and skin pigmentation changes, suggesting a role for MCPIP1 in skin carcinogenesis and follicle integrity.
76 citations
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June 2018 in “EMBO Reports” This study demonstrates that YAP and TAZ are essential for initiating basal and squamous cell carcinomas in mice, and suggests targeting these pathways could be beneficial for treating skin cancers.
280 citations
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January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
1 citations
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April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
37 citations
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December 1995 in “Journal of Cell Science” This study found that nexin 1 mRNA, a potent protease inhibitor, is prevalent in rat follicular papilla cells and may play a role in regulating hair follicular growth.
1 citations
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July 1997 in “The Lancet” This study suggests that a newly discovered protein, AMY117, found in Alzheimer's disease brain lesions may be crucial in the disease's development and progression.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that Ang1 improved survival and proliferation in human follicle dermal papilla cells under DHT-induced stress, suggesting potential as a therapeutic candidate for androgenetic alopecia.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
July 2022 in “Journal of Investigative Dermatology” This study found that decreased TRPS1 expression in balding dermal papilla cells may impair their signaling ability, contributing to hair follicle miniaturization in androgenic alopecia.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
128 citations
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December 2006 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.
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.
3 citations
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July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
10 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
3 citations
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August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.