36 citations
,
March 2014 in “Cell death and differentiation” This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.
7 citations
,
November 2007 in “Differentiation” This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.
6 citations
,
January 2025 in “Differentiation” This review highlights the role of the glycoprotein WNT10A in human tissue and organ development, exploring its genetic structure, expression, and association with disorders like ectodermal dysplasia and pathological conditions such as fibrosis and cancer.
January 2018 in “Stem cell biology and regenerative medicine” This paper reviews the role of ATP-dependent chromatin remodeling complexes in epidermal homeostasis, hair regeneration, and skin repair, noting contributions to 3D-genomic organization and suppression of UV-induced hyper-proliferation, without presenting new results.
December 2012 in “Journal of Dermatological Science” This study found that activating Wnt/beta-catenin signaling in hair follicles is sufficient to induce adipocyte generation in the dermis, affecting both hair follicle stem cell activation and adipocyte differentiation.
9 citations
,
September 2021 in “Stem Cell Reviews and Reports” This study concluded that hair-derived stem cells from older donors may offer a promising alternative for autologous corneal endothelial replacement, potentially benefitting patients of various age groups.
160 citations
,
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.
82 citations
,
February 2017 in “Cold Spring Harbor Perspectives in Biology” The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.
76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
67 citations
,
December 2008 in “Developmental Biology” This study found that the transcription factors Msx2 and Foxn1 are crucial for maintaining Notch1 expression in the hair follicle matrix, which is necessary for proper hair differentiation.
65 citations
,
September 2004 in “The American journal of pathology” This study found that overexpressing the BMP inhibitor Noggin in transgenic mice led to a significant loss of nontylotrich hair follicles, suggesting a critical role for BMP signaling in hair follicle morphogenesis and cycling.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
5 citations
,
September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
19 citations
,
August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
66 citations
,
July 2015 in “Organogenesis” This review summarizes recent findings on how Wnt signaling proteins play crucial roles in the cutaneous wound healing process but reports no new clinical results.
65 citations
,
June 2003 in “EMBO journal” This study reports that overexpressing the BMP antagonist noggin in mice inhibits eyelid opening by reducing apoptosis and delaying cell differentiation in the eyelid epithelium.
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.
20 citations
,
January 2009 in “International Journal of Dermatology” This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.
14 citations
,
February 2014 in “Experimental Cell Research” This review examines the role of stem cells and their niches in continuously growing ectodermal organs like teeth, hair, and claws, providing insights from mouse models without presenting new research findings.
11 citations
,
October 2017 in “Oncotarget” This study found that Wnt5a regulates hair follicle differentiation in mice by mediating epithelial-mesenchymal interactions and influencing dermal papilla cell activities.
4 citations
,
August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report observed that after 6 months of treatment with topical cetirizine and oral vitamin D, hair density and quality improved in three girls with congenital hypotrichosis due to ectodermal dysplasia.
2 citations
,
June 2022 in “Scientific reports” In this study, one type of commercial culture medium supported expression of stem cell markers in hair follicle epithelial stem cells, but their differentiation potential and hair follicle-inducing ability declined over time.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
667 citations
,
May 2008 in “Genes & Development” This review discusses the biochemical and biological functions of histone demethylases and their potential involvement in human diseases, including cancer, but reports no new findings.
73 citations
,
August 2011 in “Stem Cell Research” This study found that human hair follicle-derived mesenchymal stem cells can differentiate into myogenic, osteogenic, adipogenic, and chondrogenic lineages, although this potential decreases over time and varies by lineage.
51 citations
,
February 2009 in “Journal of dermatological science” In this study, β-catenin overexpression in human hair outer root sheath cells increased the expression of Pitx2, which activated the follicular differentiation pathway, suggesting Pitx2's potential role as a modulator in hair growth control.
46 citations
,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is essential for the self-renewal, migration, and differentiation of epidermal stem cells during skin wound healing in mice.
39 citations
,
January 2016 in “PubMed” This review discusses the role of epidermal differentiation complex genes and epigenetic mechanisms in skin development and certain diseases, emphasizing their potential for improving drug development and delivery systems but provides no new experimental results.