76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
May 2026 in “Frontiers in Cell and Developmental Biology” This review discusses hair follicle organoids as emerging models for studying hair biology and disorders, emphasizing their promise for bridging basic research and clinical applications, but reports no new results.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
120 citations
,
November 2014 in “Biological Reviews” This article explores the dynamic and energy-efficient nature of telogen hair follicles, challenging the notion of dormancy, and highlights their potential in advancing treatments for hair growth disorders.
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
55 citations
,
October 1992 in “Archives of Dermatology” In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
38 citations
,
June 2019 in “International Journal of Molecular Sciences” This review discusses the potential role of extracellular vesicles in modulating hair follicle dynamics and reports no new clinical results; future investigations may inform treatment strategies for skin disorders.
8 citations
,
August 2013 in “Pediatric Dermatology” This article reviews loose anagen hair syndrome, an inheritable hair disorder affecting children and sometimes adults, but does not report any new clinical results.
1 citations
,
November 2014 This chapter reviews patchy hair loss due to skin disease, nail disorders related to chronic trauma, and treatments for small carcinomas, but it reports no new clinical findings.
December 2018 in “IntechOpen eBooks” This review discusses recent advancements in understanding neuroendocrine regulation of keratin biology and highlights the potential of neurohormones to treat skin disorders, but it reports no new clinical results.
9 citations
,
December 2020 in “International Journal of Medical Sciences” This article reviews the development and use of induced pluripotent stem cell models and artificial organoids for studying neurodevelopmental disorders, but it reports no new clinical findings.
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.
40 citations
,
March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
21 citations
,
December 2016 in “PLOS ONE” This study developed a new protocol to efficiently produce skin dermal stem cells from human induced pluripotent stem cells, which may aid in treating various skin disorders.
6 citations
,
August 1993 in “Archives of Dermatology” This study found that polymorphous light eruption (PLE) may include a wide range of conditions, requiring careful differentiation from similar skin disorders such as benign summer light eruption.
3 citations
,
April 2015 in “American journal of biomedical sciences” This review discusses the molecular mechanisms of androgen action in human hair follicles and reports no new findings; the authors emphasize the need for further research to improve treatments for hair disorders.
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
January 2019 in “Przegląd Dermatologiczny” This report presents a case of a 57-year-old woman with APS-4, generalized alopecia, and rheumatoid arthritis, emphasizing the need to screen for other autoimmune disorders in patients with a single organ-specific autoimmune disease.
27 citations
,
June 2023 in “Nature” In this study using genetic mouse models, researchers discovered that senescent melanocytes in nevi secrete osteopontin, which activates hair stem cells, enhancing hair growth; this process is mirrored in human hairy nevi, suggesting a potential therapeutic target for regenerative disorders.
1 citations
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March 2024 in “Signal transduction and targeted therapy” In this review, researchers explored the multifaceted role of NF-κB signaling in various biological processes and diseases, including its interactions with other pathways, and discussed possible therapeutic approaches targeting this pathway for treating conditions like cancer, autoimmune disorders, and COVID-19.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
4 citations
,
January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
January 2007 in “The Year book of dermatology” Researchers successfully isolated and identified key stem cells in human hair follicles, which could help develop new skin and hair treatments.
36 citations
,
October 1996 in “Dermatologic Clinics” In this study, a methanol extract of Eclipta alba was found to have dose-dependent hair growth-promoting activity in C57BL6 mice.
4 citations
,
October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
19 citations
,
August 2020 in “Gastroenterology report” This review discusses the characteristics and challenges in treating Cronkhite–Canada syndrome but reports no new clinical findings, emphasizing the need for better understanding and uniform treatment approaches.