September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
5 citations
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September 2017 in “Medicine” In this case report, a patient with Cronkhite-Canada Syndrome developed colon cancer and liver metastasis despite hormone therapy, highlighting the need for regular monitoring and early detection strategies.
1 citations
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March 2019 in “Chinese Medical Journal” This study identified a small population of PAX3+/CD34+ cells in human foreskin tissue that may serve as transition cells between melanocyte stem cells and hair follicle stem cells, characterized by specific marker expressions.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
84 citations
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October 2014 in “PLoS Genetics” This study found that epidermal Wnt production is crucial for forming the skin's spinous layer through a BMP-FGF signaling cascade, although Wnt from basal cells is not needed for their differentiation.
65 citations
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March 2018 in “Journal of Dermatological Science” This review discusses the role of mechanical forces in skin homeostasis and disease development, including their impact on conditions like keloids, androgenetic alopecia, and acral melanoma, and reports no clinical results; the authors propose modifying these forces as a potential therapeutic strategy.
24 citations
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November 2016 in “Cell death and disease” This review discusses the generation of germ cell-like cells from skin-derived stem cells and reports no new results; the potential for these cells to produce viable progeny remains unclear.
16 citations
,
December 2006 in “Expert Review of Dermatology” This review discusses the multifaceted roles of hair follicles in skin health, including potential contributions to skin neoplasias, and reports no new results.
14 citations
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March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
11 citations
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March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AP-2α and AP-2β transcription factors are crucial for maintaining adult skin homeostasis, with their inactivation in keratinocytes leading to impaired differentiation, hair abnormalities, and inflammation, highlighting their key regulatory roles.
44 citations
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December 1991 in “Annals of the New York Academy of Sciences” This study observed that epidermal growth factor and fibroblast growth factor have distinct roles in sheep skin, with EGF involved in differentiation and FGF in bulb proliferation and fiber growth.
2 citations
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February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
This study used a mouse model to reveal that S100A4-positive cells, specifically fibroblasts and immune cells, play a crucial role in nipple development, essential for successful lactation, despite no issues with mammary morphology or milk production.
September 2025 in “Journal of Investigative Dermatology” This research found that deleting the SLC3A2 gene in hair follicle stem cells disrupts their maintenance and proper differentiation, leading to hair follicle growth defects and altered skin regeneration through a YAP/Taz-dependent pathway.
August 2019 in “Journal of Investigative Dermatology” This study found that tight junctions extend to the most superficial layer of the stratum granulosum in human skin, challenging previous claims of their limited presence in the epidermis.
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.
822 citations
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January 2021 in “Genome biology” This study presents a new method called scMC that effectively distinguishes biological from technical variation in single-cell genomics datasets, demonstrating its ability to accurately align and detect biological signals across various experiments.
23 citations
,
July 1982 in “International Journal of Dermatology” The review concludes that accurate diagnosis of different types of hair loss requires proper biopsy techniques and understanding the hair growth cycle and underlying causes.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
41 citations
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October 2008 in “The American journal of pathology” This study found that reducing BMP signaling in mouse nipple epithelia, achieved through Noggin overexpression, can convert them into hairy skin with pilosebaceous units.
20 citations
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September 2010 in “Cell Cycle” This study reports that in MRL mice, loss of p53 does not impair ear regeneration, suggesting p21's potential role in this process may involve the Tgfb/Smad pathway.
4 citations
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August 2023 in “Nature Communications” In this study, researchers observed that the combination of hair progenitors and their micro-niche changes every three days in mouse zigzag hair, and disruptions in specific genes affected this rhythm, highlighting the importance of this periodic change for normal hair morphology.
1 citations
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March 2019 in “KnE life sciences” This case report suggests that human dermal papillae conditioned media may accelerate wound healing in congenital aplasia cutis due to varicella infection.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.
November 2022 in “Research Square (Research Square)” This study found that keratin-associated proteins related to metallothionein and occludin appear in various animals, suggesting they may have roles beyond hair characteristics and were later adapted for hair production.