101 citations
,
August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 29 citations
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August 2011 in “PubMed” This study describes how shotgun proteomics can identify over 300 proteins in hair shafts, potentially allowing for the diagnosis of diseases through noninvasive human proteome sampling.
8 citations
,
August 2019 in “ACR Open Rheumatology” This review explores the biomechanical factors and signaling systems, like Wnt, involved in the pathophysiology of psoriatic nail lesions and reports no new results.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
4 citations
,
June 2014 in “The Journal of Dermatology” Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
67 citations
,
September 2003 in “Journal of cutaneous pathology” This review discusses the various skin manifestations associated with end-stage renal disease and their potential causes but reports no new clinical findings; the authors emphasize pruritus as a significant condition.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
30 citations
,
May 1980 in “Journal of the American Academy of Dermatology” In this study, three patients with alopecia areata exhibited spotty absence of the whiteness of their nail lunulae, potentially due to defects in the matrical epithelium.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
September 1983 in “Journal of The American Academy of Dermatology” Experts discussed hair care, genetic hair defects, hair loss treatments, nail surgery, lupus treatments, skin infections, and cosmetic allergies.
5 citations
,
December 1978 in “PubMed” This article reviews the connection between malabsorption syndrome and skin diseases, reporting common skin complications and noting their improvement with malabsorption treatment; it offers no new clinical results.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
March 2021 in “Annals of King Edward Medical University” This report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.
13 citations
,
August 1982 in “Archives of dermatology” This case report describes a 62-year-old man with psoriasis who developed a unique nail abnormality after two months of treatment with the oral retinoid etretinate, alongside hair thinning and cheilitis.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
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.
In this study, researchers developed an AI-powered platform called VitaDetect, which screens for vitamin deficiencies using image analysis of nails, tongue, and skin, aiming to provide an accessible and early-stage detection tool in resource-limited settings.
245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
54 citations
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January 1995 in “Human Molecular Genetics” This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.
44 citations
,
March 2019 in “Experimental Dermatology” This study analyzed the cornified envelope of epidermal proteins, finding keratins dominate, which may help explain the minimal impact of deleting genes for single envelope components in congenital ichthyosis.
51 citations
,
January 1997 in “PubMed” This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
114 citations
,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” This review discusses the diverse roles of Frizzled proteins in developmental and homeostatic processes and reports no new experimental findings.
7 citations
,
January 2008 in “Indian Journal of Dermatology” This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
June 2021 in “Dermatology Online Journal” This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.
6 citations
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September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.