This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 234 citations
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November 2009 in “American journal of human genetics” This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.
143 citations
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January 2007 in “The American Journal of Human Genetics” This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.
39 citations
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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.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
8 citations
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July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
196 citations
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March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
January 2024 in “International journal of molecular sciences” This study found that higher expression of the Hoxc13 gene in specific areas of hair follicles is associated with longer wool length in Gansu alpine fine-wool sheep.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
86 citations
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August 2011 in “Toxicological sciences” In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.
27 citations
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July 2013 in “Journal of Dermatological Science” The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.
41 citations
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November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
25 citations
,
March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
November 2022 in “CARDIOMETRY” This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
3 citations
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September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
89 citations
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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.
1 citations
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January 2015 in “Genetics and Molecular Research” This study demonstrated that blocking S100A3 in mice inhibited hair growth by delaying the anagen phase and reducing the number of hair follicles, suggesting S100A3 as a potential target for hair loss treatments.
87 citations
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September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
36 citations
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September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.
19 citations
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September 2014 in “British Journal of Dermatology” This study found that topical minoxidil 5% foam was effective in promoting hair growth in both the frontal and vertex scalp for men with androgenetic alopecia.
6 citations
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April 2017 in “InTech eBooks” This book discusses various unanswered questions about headaches, including genetic factors, smartphone effects, and botulinum toxin's potential benefits for chronic migraines, but reports no new clinical findings.
2 citations
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September 2015 in “Clínica e Investigación en Arteriosclerosis” This review discusses the association between certain dermatological diseases and increased cardiovascular risk, highlighting the need for clinicians to address cardiovascular risk factors in these patients.
2 citations
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December 2011 in “Annales de Dermatologie et de Vénéréologie” 2011 dermatological research found new skin aging markers, hair loss causes, skin defense mechanisms, and potential for new treatments.
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.