November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
32 citations
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June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
11 citations
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May 2018 in “Frontiers in plant science” This study found that overexpressing the PCaP2 protein in Arabidopsis enhanced drought tolerance by influencing ABA and SA signaling pathways and regulating root hair growth, suggesting a key role in water deficit response.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
26 citations
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September 2001 in “Journal of Investigative Dermatology” This study found that the serine protease BSSP is strongly expressed in mouse skin during carcinogenesis and is upregulated independently of c-Fos and unaffected by glucocorticoids.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
1 citations
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September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
9 citations
,
July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
24 citations
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January 2023 in “Cancer Research” This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.
31 citations
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July 2012 in “Journal of Lipid Research” This study found that the acyl-CoA binding protein is essential for the production of very long chain free fatty acids in the stratum corneum and maintaining normal epidermal barrier function in mice.
10 citations
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November 2009 in “Pigment cell & melanoma research” This study by Pérez-Oliva et al. explored how Mahogunin Ring Finger-1 (MGRN1) affects melanocortin-1 receptor (MC1R) signaling, suggesting that MGRN1 competitively inhibits Gαs binding to MC1R, influencing pigment production.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
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.
2 citations
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September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study demonstrated that ablation of individual somatostatin-expressing interneurons increased activity in nearby neurons of the mouse motor cortex during motor learning.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study on adult-onset, whole body Spry1/2/4 triple knockout mice, researchers observed endocrine abnormalities and no increased tumor incidence, despite similar food intake and motor function.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.
17 citations
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October 2005 in “Journal of Biological Chemistry” This study found that Hirosaki hairless rats experience transient activation of STAT5A in the mammary glands during early lactation, involving O-GlcNAc modification rather than Tyr-phosphorylation.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
3 citations
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August 2024 in “The Journal of Cell Biology” This study demonstrated that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments with different biophysical properties.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” This study found that TPA induces apoptosis in pig renal epithelial cells by affecting cell cycle proteins, and activated ras can prevent this process.
July 2025 in “Journal of Investigative Dermatology” This article discusses the role of epimorphin as a key morphoregulator for various epithelial cells in tubulogenesis and reports no experimental results on its signaling pathways.
75 citations
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June 2007 in “Journal of Biological Chemistry” This study found that the combination of MT-DADMe-ImmA and MTA selectively induced apoptosis in head and neck squamous cell carcinoma cell lines FaDu and Cal27, but not in normal fibroblasts or MTAP-deficient breast cancer cells.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.
1 citations
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April 2024 in “Metabolites” In this study, researchers found that male and female APCHi mice exposed to ionizing radiation showed near-normal lipid and metabolite levels, suggesting activated protein C may offer some protective effects against radiation-induced damage affecting organ systems.