42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
22 citations
,
August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.
22 citations
,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
7 citations
,
October 2022 in “Development” This study demonstrated that Wnt5a can serve as an orienting signal for mouse skin's planar cell polarity but its overexpression disrupts hair follicle orientation, which can be rescued by modifying Fzd6 levels.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
5 citations
,
February 2015 in “Egyptian Journal of Ear Nose Throat and Allied Sciences” This case report describes an ossifying pilomatrixoma found in a 15-year-old girl, confirmed via histopathological examination after imaging indicated a subcutaneous mass on her cheek.
4 citations
,
December 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that persistent activation of Wnt signaling in mouse models leads to cyst formation in hair follicles, resembling acne, and that these cysts can be partially reduced by certain acne treatments.
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.
July 2025 in “International Journal of Trichology” This study reported six pediatric cases of temporal triangular alopecia and highlighted the use of trichoscopy to distinguish it by detecting a distinctive carpet of vellus hair, helping to differentiate TTA from other hair loss conditions.
May 2025 in “Frontiers in Pharmacology” This review reports that while current treatments for non-scarring alopecia, like minoxidil and finasteride, have limited efficacy due to side effects, natural remedies may offer more effective management with potentially fewer side effects, though their varying safety profiles call for further investigation.
May 2005 in “Journal of the American Academy of Dermatology” 83 citations
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January 2023 in “Development” This review provides an overview of Hox genes, focusing on their evolutionary history, genomic organization, and roles in development, but reports no new study results.
9 citations
,
September 2022 in “Journal of Clinical Investigation” In this study, mouse models of 22q11.2 deletion syndrome showed that growth issues in small embryonic thymuses were linked to mesenchymal cells, which could be corrected by substituting with normal mesenchyme.
6 citations
,
April 2024 in “Journal of Investigative Dermatology” This review highlights recent advances in CRISPR-based lineage tracing methods that can improve our understanding of skin stem cell behavior, regeneration, and disease, with potential applications in organoids and model organisms.
5 citations
,
May 2023 in “Frontiers in Cell and Developmental Biology” This study used single-cell techniques and lineage tracing to reveal that integrin α6 expression in neural crest cells can differentiate them into Schwann cells, melanocytes, and fibroblasts in skin, identifying integrin α6 as a potential marker for these derivatives.
December 2023 in “Indian Journal of Endocrinology and Metabolism” In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.
197 citations
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June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
160 citations
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January 2014 in “Seminars in cell & developmental biology” This review discusses the shared molecular and cellular processes in the early development stages of skin appendages like hair follicles, teeth, and mammary glands, reporting no new results.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
101 citations
,
July 1985 in “Journal of the American Academy of Dermatology” In this study, oral biotin improved hair growth, strength, and combability in a child with uncombable hair syndrome, while hair in two others slowly improved without biotin.
96 citations
,
June 2017 in “Nature Communications” This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.
96 citations
,
March 2007 in “Developmental biology” This study found that the Wnt inhibitor Dkk4 may play a role in regulating hair follicle development through a feedback loop with canonical Wnt signaling pathways.
85 citations
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August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
64 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that ectodermal precursor cells derived from human induced pluripotent stem cells may enhance hair follicle morphogenesis through improved epithelial-mesenchymal interactions when cocultured with dermal cells.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
46 citations
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March 2005 in “Endocrinology” In this study, ectoderm-targeted transgenic mice with glucocorticoid receptor overexpression exhibited multiple epithelial defects, suggesting the role of NF-kappaB and p63 dysfunction in ectodermal dysplasia syndromes.
37 citations
,
June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
32 citations
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September 2003 in “European journal of oral sciences” This study found that individuals with ectodermal dysplasias often have a reduced secretion rate of submandibular saliva and altered protein concentrations, suggesting routine salivary tests may be beneficial in this population.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.