This dissertation reported that the loss of Ovol2 impairs hair follicle regeneration and wound repair in mice, highlighting its role in regulating directional migration of epithelial cells.
April 2017 in “Journal of Investigative Dermatology” This study found that human iPSC-derived dermal papilla precursor cells can regenerate hair follicle structures, offering a potential new treatment approach for permanent alopecia.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
87 citations
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March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
4 citations
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December 2022 in “Advanced science” This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.
67 citations
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December 2013 in “Journal of Biological Chemistry” This review discusses the role of the enzyme Δ9-desaturase-1 in skin lipid regulation and whole-body energy balance in mice and reports no new experimental results.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
September 2012 in “대한피부과학회지” In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.
April 2023 in “Journal of Investigative Dermatology” This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.
March 2023 in “Scientific reports” This study presents evidence that hair matrix progenitors and the enzyme Stearoyl CoA Desaturase 1 may play a role in maintaining the dermal papilla niche via autocrine Wnt and paracrine Hedgehog signaling in mice.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
195 citations
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November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
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.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
56 citations
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February 2012 in “Developmental biology” This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
28 citations
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September 2014 in “Journal of Veterinary Internal Medicine” This study found that the novel drug VDC-1101 showed a 45% objective response rate in treating canine cutaneous T-cell lymphoma, offering a potential treatment option for this challenging disease.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
6 citations
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August 2016 in “Journal of Visualized Experiments” This article describes a method using the CUBIC protocol to clarify and visualize molecular and cellular interactions in mouse skin biopsies at single cell resolution, but does not provide new biological findings.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study demonstrated that both DKK2 and SOSTDC1 are necessary for normal timing of the first catagen phase in mice hair growth cycles.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
7 citations
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March 2023 in “European Journal of Dermatology” Using Selenium Disulfide shampoo weekly helps prevent scalp dermatitis flare-ups.
April 2018 in “Journal of Investigative Dermatology” This study found that desmosomal cadherin desmoglein 3 loses its rigidity upon Ca2+ removal, regardless of desmosome functional state, suggesting a central role for signaling in hyper-adhesion.