197 citations
,
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.
144 citations
,
August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
139 citations
,
February 2010 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This review outlines the advancements in organ and tissue transplantation since the discovery of the human MHC and reports no new clinical results.
104 citations
,
January 2014 in “Journal of Clinical and Experimental Dentistry” This review outlines the oral toxic effects of chemotherapy and stresses the need for evaluating dental health prior to treatment to mitigate these complications, but it reports no new clinical results.
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.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
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.
47 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review examines the pathogenesis of premature hair graying and potential treatment avenues, but reports no new experimental outcomes, highlighting ongoing research challenges and hopes for drug development.
44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
43 citations
,
November 2018 in “Nature Communications” This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.
36 citations
,
January 2012 in “International Journal of Trichology” This review discusses madarosis, its diverse causes, and suggests follicular unit transplantation as a useful treatment for scarring types, but reports no new clinical results.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
32 citations
,
August 2015 in “Anais Brasileiros de Dermatologia” This review discusses the side effects and diseases related to hairstyles and hair treatments among black women, highlighting the need for thorough examination by dermatologists, but reports no new clinical results.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
26 citations
,
January 2017 in “Journal of Clinical Pediatric Dentistry” This study observed that dental erosion was common among adolescents in Pasto, Colombia, with dietary habits like frequent juice consumption and snacking on artificially flavored lemon products linked to increased risk.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
12 citations
,
March 2013 This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
10 citations
,
January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
10 citations
,
May 2010 in “Journal of The American Academy of Dermatology” This report presents a rare case of short anagen syndrome in a 38-year-old African American woman, expanding the documented demographic beyond previously reported Caucasian individuals with fine blond hair.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
2 citations
,
January 2017 in “Journal of Pigmentary Disorders” This study explores the complex and not yet fully understood causes of premature hair greying, noting genetic factors such as Pax3 and MITE genes, potential defects in melanin transfer, and associations with certain syndromes, while stating that effective treatments are currently lacking.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.