87 citations
,
July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
41 citations
,
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.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
January 2025 in “Frontiers in Genetics” In this study, researchers reported significant hair growth in an 8-year-old with hypotrichosis simplex of the scalp after treatment with a combination of oral botanical extracts and minoxidil, marking the first documented use of botanical extracts as a potential therapeutic approach for this condition.
83 citations
,
May 2011 in “European Journal of Dermatology” This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.
2 citations
,
April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
363 citations
,
March 2017 in “Nature Communications” This study found that, in mouse tail epidermis, stem cells rapidly activate and regenerate new progenitors to repair wounds, with mechanisms affecting their proliferation, differentiation, and migration.
95 citations
,
February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
92 citations
,
August 2017 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that newborn mouse skin organoids can robustly grow hair in vivo, while adult organoids require specific interventions to restore their hair-forming ability.
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.
87 citations
,
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.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
61 citations
,
September 2010 in “Genomics” This study found distinct gene expression profiles in alopecia areata-affected skin, suggesting T-cell mediated immune responses and unique gene profiles between different stages of the disease.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
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.
11 citations
,
August 2013 in “International Journal of Cosmetic Science” This study found that a combination of Trichogen and climbazole may inhibit protease activity and increase the force required to remove human hair, suggesting potential to reduce excessive hair shedding.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
10 citations
,
March 2022 in “Communications biology” In this study, researchers found that non-invasive analysis of skin surface lipid RNAs revealed alterations in gene expression patterns associated with atopic dermatitis, suggesting its potential for understanding skin disease pathophysiology.
10 citations
,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
8 citations
,
November 2017 in “Journal of Investigative Dermatology” In this study, researchers found that androgenetic alopecia is associated with increased gene expression related to inflammation, stress, and fibrosis, particularly affecting the hair follicle stem cells and showing similarities to diseases like psoriasis.
5 citations
,
February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
4 citations
,
December 2025 in “Frontiers in Immunology” This systematic review of Mendelian randomization studies reports that autoimmune thyroid disease is associated with increased risk for numerous health conditions, including coronary atherosclerosis and rheumatoid arthritis, while decreasing risks for others, such as lung cancer.
2 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.