128 citations
,
March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
2 citations
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August 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that distinct subsets of Hoxd genes in murine vibrissae and chicken feather primordia are regulated by different lineage-specific enhancers, indicating evolutionary changes in chromatin topology contribute to transcriptional robustness.
1 citations
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February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study describes a new imaging platform for the adult Drosophila midgut, facilitating real-time observation of cell behaviors and dynamics involved in organ renewal.
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.
24 citations
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July 2018 in “Stem cells” This study found that Runx1 in hair follicle stem cells modulates lipid metabolism, impacting membrane organization and enhancing signal transduction for cell proliferation in both normal and cancer epithelial cells.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
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.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
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.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
35 citations
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September 1994 in “Journal of Investigative Dermatology”
This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.
63 citations
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April 2005 in “Mechanisms of development” This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.
20 citations
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September 2021 in “Nature communications” In this study, researchers identified a gene expression pre-pattern and implicated the Wnt inhibitor Dickkopf 4 in the formation of color patterns in domestic cat embryos.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
10 citations
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August 2010 in “Hereditas (Beijing)” This review summarizes the role of Hoxc13 in regulating hair follicle development and growth, noting its influence on keratin and keratin-associated proteins, and reports no new experimental findings.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
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.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” This review provides an in-depth analysis of the structure and function of c-kit activation, and its role in both normal physiological and pathological conditions, with no new research findings reported.
201 citations
,
May 2001 in “Proceedings of the National Academy of Sciences” This study found that transgenic expression of COX-2 in mouse basal keratinocytes causes epidermal hyperplasia and certain dysplastic features at specific body sites.
5 citations
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September 2022 in “Research Square (Research Square)” This study identified CD201+ fibroblast progenitors in mouse skin that regulate wound healing through differentiation into specialized cell types, with retinoic acid and hypoxia influencing this process.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
May 2024 in “Biochemical pharmacology” This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that depleting HIF-P4H-2 in FoxD1-lineage cells in mice led to disrupted hair follicle development, resulting in truncal alopecia but normal cranial hair, suggesting its crucial role in hair homeostasis.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
19 citations
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March 2022 in “Molecular therapy. Nucleic acids” This study found that silencing the circular RNA circNlgn in mice reduced doxorubicin-induced cardiofibrosis and cardiomyocyte apoptosis, suggesting potential therapeutic strategies for minimizing heart-related side effects in cancer treatment.
January 2025 in “Scholarly Commons (University of Pennsylvania)” This study found that the X-linked gene UTX is crucial for regulating skin differentiation and inflammation in females by affecting retinoic acid signaling, also highlighting potential links to sex disparities in skin diseases.
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.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that dermal EZH2 plays a crucial role in coordinating dermal fibroblast differentiation and epidermal development by modulating Wnt/β-catenin and retinoic acid signaling.