1 citations
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December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that sebaceous gland atrophy in psoriatic lesions correlates with the down-regulation of specific lipid biosynthetic gene modules, potentially affecting hair appearance without damaging follicles.
22 citations
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May 2007 in “Molecular Biotechnology”
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
January 2024 in “Biomarker Insights” This study found significant associations between PCOS susceptibility and specific genetic variants in the APOA5 and PLIN1 genes among Western Saudi women, identifying novel alleles and genotypes that may influence PCOS risk and related clinical characteristics.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
13 citations
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March 1999 in “Biochemical Journal” In this study, transgenic mice overexpressing the SSAT gene were highly sensitive to polyamine analogues, leading to severe liver changes and high mortality rates after treatment.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
This study found that overexpression of erythropoietin disrupted hair growth in mice by affecting dermal fat lipogenesis and lipolysis, leading to poor hair follicle development and truncal alopecia.
2 citations
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May 2021 in “Journal of the Endocrine Society” This study found that in men with high genetic risk factors for polycystic ovary syndrome, there was an associated increase in obesity, type 2 diabetes, coronary artery disease, and androgenic conditions, suggesting these genetic factors can act independently of ovarian function.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
39 citations
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August 2017 in “Annual Review of Genetics” This review discusses recent genetic approaches to understanding tissue regeneration mechanisms in vertebrates and reports no new results; it highlights objectives in identifying cellular and molecular factors involved.
3 citations
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March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
July 2002 in “Science s STKE” In this study, the researchers reported that altering β-catenin signaling in a transgenic mouse model led to changes in skin cell fate, notably converting hair follicle cells into epidermal cells and forming cysts instead of follicles.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.
23 citations
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January 2022 in “Biomaterials Science” Non-viral vectors show promise for safe and effective CRISPR/Cas9 gene editing in treating diseases.
61 citations
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September 2008 in “Stem Cells” This study found that DNA strand segregation in multipotent hair follicle stem cells occurs randomly during development and tissue homeostasis, challenging the immortal strand hypothesis.
1 citations
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February 2026 in “ACS Omega” This review highlights the potential of self-powered nanogenerators in revolutionizing biomedical devices by using biomechanical or environmental energy, focusing on applications like regenerative hair growth, drug release patches, and electronic skin while evaluating challenges such as energy efficiency and biocompatibility.
5 citations
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January 2015 in “Molecular Genetics and Metabolism” 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.
This study identified genetic regions evolving at different rates in hairless mammals, suggesting that specific genomic changes may contribute to the evolution of hairlessness across various species.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
50 citations
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February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
8 citations
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June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.