April 2018 in “Journal of Investigative Dermatology” In this study, TRPV3G568V mice exhibited periodic hair loss and immune cell infiltration in the dermis, without affecting hair follicle stem cell fate, suggesting a focus on dermal immune cells for future research.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
December 2022 in “Research Square (Research Square)” In this study, the researchers developed a quantum algorithm, QuantAnts machines, which identified complexes of CD9, CD34, and CD74 as potential targets for certain cancers involving the RAS pathway.
July 2024 in “JAAD Case Reports” This article discusses the clinical and histological features of alopecia areata, a T-cell-mediated autoimmune disorder causing unpredictable nonscarring hair loss, without providing new clinical findings.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” This study identified a new mouse mutation associated with noninflammatory proliferative skin disease and hair abnormalities, drawing parallels to human conditions like Netherton's syndrome and monilethrix.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” This study suggests that Foxn1 expression in keratinocytes influences pigmentation in mice, highlighting differences in the molecular mechanisms between mouse and human pigmentation processes.
September 2025 in “Frontiers in Immunology” This review examines the interconnected processes of atopic dermatitis and alopecia areata, highlighting shared immune imbalances, genetic factors, and microbiome influences, while analyzing current and emerging treatments and identifying gaps in understanding these overlapping conditions.
13 citations
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May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
384 citations
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January 2008 in “Journal of Internal Medicine” This review discusses the role of mitochondrial dysfunction in the ageing process and reports that its significance compared to other factors in mammalian ageing remains uncertain.
30 citations
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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.
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.
21 citations
,
January 2020 in “General and Comparative Endocrinology” This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.
March 2013 in “Journal of pediatric nursing” This case report presents a 14-year-old girl with type A insulin resistance, illustrating diagnostic processes to differentiate it from type 2 diabetes in the context of pediatric obesity and hyperglycemia.
13 citations
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January 2023 in “Annual Review of Cancer Biology” This study suggests that cancer risk may be influenced by the balance of pro- and anti-oncogenic mutants in normal tissues rather than by the total number of mutations.
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.
1 citations
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May 2024 in “Applied Sciences” This review analyzed current studies on metabolite production from the medicinal fungus Cordyceps militaris, focusing on its fermentation modes and biological functions, and emphasizes the need for modern fermentation processes to enhance industrial production.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
37 citations
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August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
January 2024 in “Australasian journal of dermatology (Print)” In this case study, researchers documented a Chinese boy with hair color changing to red and identified MC1R genetic mutations as the cause, rather than zinc deficiency, enhancing our understanding of hair heterochromia due to genetic factors.
25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
August 2024 in “JAAD Case Reports” This article reviews the current FDA-approved treatments for severe pediatric alopecia areata, including the use of Janus kinase inhibitors, but reports no new clinical findings.
22 citations
,
October 1996 in “Dermatologic clinics” This review summarizes recent advances in understanding intermediate filament structure and their implications for pathological mutations and human diseases, but it reports no new experimental results.
October 2022 in “Frontiers in Cell and Developmental Biology” Aging skin is affected by inflammation, reduced stem cell function, and slower wound healing.
86 citations
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April 2009 in “Journal of anatomy” This paper reviews the evolution of skin appendages and keratin-associated proteins among amniotes, proposing a model for their genetic divergence without new experimental results.
March 2009 in “Encyclopedia of Life Sciences” This article reviews keratin disorders and highlights recent progress in therapeutic approaches, including a clinical trial for pachyonychia congenita using siRNA, but reports no new clinical findings.
January 2006 in “Yearbook of Dermatology and Dermatologic Surgery” Hair graying is caused by the loss of pigment cells due to poor maintenance of stem cells in the hair follicle.
87 citations
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February 2009 in “PubMed” This review discusses the potential causes and treatments for alopecia in nonhuman primates, emphasizing the need for comprehensive testing before attributing hair loss to stress.