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.
October 2025 in “International Journal of Advanced Multidisciplinary Research and Studies” This study found that hairless dog breeds have adapted to maintain normal body and core temperatures through structural changes like a thicker epidermis and the role of melanin in thermoregulation, with genetic mechanisms involving the FOXI3 gene governing hairlessness.
50 citations
,
March 2001 in “Clinics in dermatology” This paper reviews the complex anatomy and development of human hair and emphasizes the need to understand these processes for interpreting drug incorporation into hair, with no new clinical results reported.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
9 citations
,
October 1995 in “Clinical Dysmorphology” This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.
12 citations
,
January 2023 in “Indian Dermatology Online Journal” This review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
6 citations
,
June 1993 in “Veterinary Dermatology” This case report describes a female Rottweiler with generalized congenital hypotrichosis, where most skin biopsies showed a complete absence of follicular development, marking only the second documented case of this genodermatosis in female dogs.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
21 citations
,
January 2005 in “Skinmed” This article reviews the structural similarities and common disorders of hair and nails, highlighting their joint involvement in congenital and acquired conditions, but it reports no new clinical results.
December 2025 in “Toxicologic Pathology” This study outlines the complex structure and various functions of the skin, emphasizing its role as a barrier against external insults, a sensory receptor, and its importance in vitamin D synthesis.
4 citations
,
April 2011 in “Stem Cell Reviews and Reports” This research describes a two-step culture system for pluripotent mouse ES cells that produces hair follicle-like structures, providing a valuable model to study stem cell differentiation in vitro.
2 citations
,
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 utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
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.
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.
85 citations
,
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
,
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.
January 2024 in “Archives of pharmacy practice” This study reviews the embryological origins, anatomical and histological structure, and key functions of the skin, emphasizing its protective, sensory, and regulatory roles, as well as the social and psychological impacts of post-lesion changes.
9 citations
,
March 2022 in “Military Medical Research” This study developed a method to convert fibroblasts into sweat gland-like cells, suggesting potential for regenerating damaged skin and restoring sweat gland function.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
36 citations
,
August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.
8 citations
,
March 2025 in “Developmental Biology” Integumentary organs adapt and evolve for survival, with potential uses in regenerative medicine.
1 citations
,
December 2023 This study explored the complex developmental processes of human hair, emphasizing the intricate interactions required for hair follicle morphogenesis and its implications for drug incorporation and concentration interpretation, particularly in early childhood.
13 citations
,
July 2016 in “Indian Journal of Dermatology” This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.
6 citations
,
July 2007 in “Developmental Dynamics” This study reports that Wise is expressed in specific patterns during the morphogenesis of chick embryos, particularly in regions associated with known signaling molecules like Wnt, Bmp, and Shh.
37 citations
,
January 2005 in “Clinics in dermatology” This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.
49 citations
,
April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.