5 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
February 2024 in “International Journal of Dermatology” This report highlights that scientific collaborations have led to a rise in publications focused on African skin and hair, which could inform the development of locally tailored products and awareness campaigns.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” This article reports that mutations in the PADI3 gene, affecting its activity or localization, cause uncombable hair syndrome and are linked to central centrifugal cicatricial alopecia, particularly among women of African ancestry.
95 citations
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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.
September 2024 in “Portuguese Journal of Dermatology and Venereology” This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.
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.
5 citations
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February 2019 in “The New England Journal of Medicine” This article discusses the composition and function of the dermal papilla in hair follicles, focusing on its role in hair shaft generation and suggesting that cell loss in this area may contribute to hair loss.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
57 citations
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January 2020 in “International Journal of Molecular Sciences” This review discusses the role of peptidylarginine deiminases in skin homeostasis and diseases, particularly in keratinocyte differentiation and hair disorders, but presents no new experimental findings.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human skin melanocytes with low mutation burdens are smaller, less dendritic, and exhibit stem-like features, often residing in UV-protected hair follicles, suggesting their role in replenishing sun-damaged epidermis.
August 2026 in “International Journal of Pharmaceutical and Clinical Research” This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
4 citations
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January 2017 in “Biological & pharmaceutical bulletin” This study found that inhibiting arachidonate 12-lipoxygenase (ALOX12) may enhance hair cuticle maturation by increasing S100A3 protein citrullination and promoting cuticular differentiation in isolated human hair follicles.
2 citations
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October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.
22 citations
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April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
5 citations
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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
,
November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
62 citations
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December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
2 citations
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July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This review discusses hair shaft disorders, noting the lack of specific treatments and recommending general care practices to prevent hair damage, with some improvement possible during puberty or with treatments like minoxidil.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This review discusses the classification and diagnosis of hair shaft disorders based on fragility and emphasizes preventive care due to the lack of specific treatments.
22 citations
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August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.