41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
August 2026 in “The FASEB Journal” This study identified two key epigenetic-related genes, HR and SMYD4, which may act as potential biomarkers in keloid disease, suggesting new therapeutic avenues for further research.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
3 citations
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December 2024 in “Journal of Animal Science” In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.
134 citations
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January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
44 citations
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December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
28 citations
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July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
April 2017 in “Journal of Investigative Dermatology” This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.
April 2016 in “Journal of Investigative Dermatology” This study found that disrupting Sdf1-Cxcr4 signaling promoted tissue regeneration in wild-type mice, hinting at potential strategies to induce such regeneration in mammals.
This study in cashmere goats identified the lncRNA MRPS28, which interferes with secondary hair follicle morphogenesis by inhibiting dermal papilla formation through sponging chi-miR-145-5p, offering insights into breeding strategies for improved cashmere quality.
May 2022 in “Frontiers in Cell and Developmental Biology” This study identified that in pig embryos, the miR-29a-5p/EDAR/lncRNA627.1 ceRNA complex plays a critical role in inhibiting hair placode precursor cells proliferation and regulating hair placode formation through the suppression of EDAR expression, which may provide insights into similar mechanisms affecting human hair conditions.
January 2024 in “Wiadomości Lekarskie” This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.
179 citations
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June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
August 2009 in “Mechanisms of Development”
In this study, a clear pattern of selective sweep was observed for the SLC24A5 gene, with high linkage disequilibrium and low haplotype diversity, but no clear correlation with UV radiation intensity was found.
February 2026 in “Veterinary Sciences” This study found that SPARC-overexpressing adipose-derived mesenchymal stem cells significantly improved various aspects of skin wound healing in dogs, including re-epithelialization, collagen deposition, and angiogenesis, showing promise for enhancing treatment effectiveness under different physiological and pathological conditions.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
30 citations
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August 2021 in “Oncogene” This study reports that miR-22 promotes cancer progression and metastasis by maintaining Wnt/β-catenin signaling and cancer stem cell function.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
3 citations
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May 2025 in “Lasers in Surgery and Medicine” This study suggested that MRF may support skin regeneration and rejuvenation by promoting collagen synthesis and regulating factors involved in fibroblast activation and ECM remodeling, with preliminary findings indicating ADSCs might aid these processes.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
51 citations
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January 2006 in “Wound Repair and Regeneration” This study found that MRL/MpJ mouse dorsal skin wounds heal with similar scar formation and collagen deposition as C57bl/6 and Balb/c mice.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.