3 citations
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April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
May 2026 in “BMC Medicine” This study found that ACOD1 deficiency in dermal papilla cells promotes mitochondrial dysfunction and contributes to cellular senescence in androgenetic alopecia, suggesting ACOD1 as a potential therapeutic target and 4-octyl itaconate as a promising treatment option for AGA.
8 citations
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May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.
3 citations
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January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
April 2025 in “Journal of Diabetes & Metabolic Disorders” This study found that linc-PINT expression was significantly decreased in patients with atrial fibrillation compared to healthy controls, while several TGF-β signaling genes were increased, suggesting a potential role in heart arrhythmias' pathogenesis.
33 citations
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February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
December 2024 in “Regenerative Therapy” This study found that altering levels of SFRP1 in human dermal papilla cells affects cell function and regulates Wnt/β-catenin signaling or telomerase activity, suggesting that targeting SFRP1 could potentially offer a new approach to treat hair loss diseases.
4 citations
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May 2025 in “npj Parkinson s Disease” This study identified peripheral myeloid cells as the earliest dysregulated immune cells in PINK1 KO mice with Parkinson’s-like symptoms following intestinal infections, suggesting that PINK1 regulates gut immune functions linked to early Parkinson’s disease mechanisms.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
43 citations
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February 1999 in “Biochemical Journal” This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
11 citations
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May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
54 citations
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May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
157 citations
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October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
May 2018 in “The Journal of Immunology” In this study, daily treatment with angiotensin (1-7) significantly reduced disease severity in a mouse model of Systemic Lupus Erythematosus, suggesting potential for Mas agonists in future therapies.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
4 citations
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March 2024 in “The Journal of Cell Biology” This study found that Caspase-1, traditionally viewed as an inflammasome component, is secreted upon wounding and plays a novel role by triggering hair follicle stem cell migration into the epidermis, offering insights into epithelial hyperplasia mechanisms in inflammatory skin conditions.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
20 citations
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October 2017 in “Stem Cell Reports” This study found that loss of the ACER1 gene in mice led to increased ceramide levels and progressive hair loss, highlighting ACER1's role in maintaining hair follicle stem cell homeostasis.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.