January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
22 citations
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September 2011 in “Journal of Investigative Dermatology” This study found that impaired TCF/Lef1 signaling in mice leads to significant skin barrier defects due to altered lipid metabolism and epidermal differentiation.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.
25 citations
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August 2010 in “Journal of Biological Chemistry” This study found that NFI-C plays a crucial role in the transition from the telogen to anagen phase of the hair follicle cycle, affecting hair growth initiation in mice.
August 2009 in “Mechanisms of Development” 20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
September 2020 in “Adnan Menderes Üniversitesi Sağlık Bilimleri Fakültesi Dergisi” This review investigates the relationship between certain gene polymorphisms associated with obesity (FTO and MC4R) and Polycystic Ovarian Syndrome, reporting no new results but suggesting a potential genetic link.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
29 citations
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July 2014 in “PLoS ONE” This study suggests that inactivation of β-catenin is necessary for chick retina regeneration, as it allows cells to enter the cell cycle during injury and promotes regeneration without needing FGF2.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
12 citations
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December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
8 citations
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January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
7 citations
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November 2024 in “Journal of Inflammation Research” This review discusses the role of the TRPV4 channel in both normal and diseased intestinal functions and suggests that targeting TRPV4 may have clinical significance for treating intestinal diseases due to its involvement in intestinal barrier dysfunction.
11 citations
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August 2019 in “Journal of Molecular Histology” This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.
1 citations
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January 2020 This study found that Ift20 is essential for hair follicle stem cell identity and hair regrowth, and it regulates keratinocyte migration during wound healing through focal adhesion integrin recycling, independently of ciliogenesis.
83 citations
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February 1991 in “Development” This study found that Fos protein expression is closely linked to epithelial cell differentiation, particularly during cornification and cell death, with overexpression observed in keratinization-blocked mutant epidermis.
31 citations
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July 2004 in “Molecular Medicine” This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.
4 citations
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May 2021 in “Biomedicines” This review explores the potential role of caveolin-1 in cicatricial alopecia, particularly frontal fibrosing alopecia, and discusses possibilities for targeted therapies without providing new research results.
6 citations
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June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
17 citations
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June 1996 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, FCE 28260 showed greater potency than finasteride in inhibiting 5α-reductase enzymes and reducing prostate DHT levels in rats.
22 citations
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May 2007 in “Molecular Biotechnology”