8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
40 citations
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December 2012 in “PLoS ONE” This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.
23 citations
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February 2021 in “Journal of Endocrinological Investigation” This review discusses the impact of COVID-19 on the endocrine system and reports no clinical results; the authors emphasize the need to investigate endocrine damage during and after COVID-19 infection.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
10 citations
,
December 2015 in “Clinics in Dermatology” This review highlights the eye and skin manifestations of endocrine-related metabolic diseases but provides no new clinical results.
4 citations
,
August 2023 in “Nature Communications” In this study, researchers observed that the combination of hair progenitors and their micro-niche changes every three days in mouse zigzag hair, and disruptions in specific genes affected this rhythm, highlighting the importance of this periodic change for normal hair morphology.
405 citations
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May 2007 in “Journal of The American Academy of Dermatology” This review discusses the profound impact of obesity on skin physiology and dermatologic conditions and reports no new experimental results, recommending awareness and treatment strategy development for obesity-associated dermatoses.
14 citations
,
January 1985 in “International Journal of Dermatology” The cause of alopecia areata was unknown, and while various treatments existed, no best treatment was agreed upon.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
May 2024 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers reviewed the roles of autophagy and mitophagy in hair follicle cycles, exploring their potential links to hair loss and investigating how manipulating these pathways might offer new therapeutic strategies.
49 citations
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December 2009 in “Journal of Investigative Dermatology” This review explores the complex relationship between thyroid hormones and skin, discussing potential mechanisms and known interactions but reports no new clinical results, emphasizing the need for further research.
45 citations
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March 2015 in “Clinical Endocrinology” This article reviews the use of cross-sex hormonal therapy in transmen and reports that it is reasonably safe, suggesting monitoring should be frequent initially but can be less frequent over time.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
133 citations
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February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
24 citations
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December 2013 in “Sexual medicine reviews” This review discusses persistent sexual and nonsexual adverse effects of the 5α-reductase inhibitor finasteride in younger men, including erectile dysfunction, low libido, and depression. It reports no new clinical results but emphasizes further research is needed.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
6 citations
,
October 2024 in “BMC Infectious Diseases” This study observed that COVID-19 patients in Thailand infected with the Delta variant were more likely to develop pneumonia and certain post-infection conditions, while Omicron infections were associated with milder symptoms like sore throat and congestion.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
July 2025 in “Frontiers in Medicine” In this case study, an 8-year-old boy with alopecia totalis experienced significant hair regrowth after baricitinib treatment, suggesting KRT74 variants may influence immune dysregulation in this condition.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
11 citations
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December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
1 citations
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March 2024 in “International journal of molecular sciences” This review discusses how ionizing radiation causes skin damage by inducing cellular senescence in keratinocytes, which secrete inflammatory mediators, recruiting immune cells and exacerbating inflammation, impacting the skin barrier function and healing.
January 2024 in “Wiadomości Lekarskie” This study observed that patients with type 2 diabetes and sensorineural hearing loss exhibited significantly higher levels of peripheral myelin protein 22, particularly in those with microangiopathies, suggesting demyelinating processes in the auditory system.
2 citations
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May 2023 in “Biology” This study developed and characterized new mouse models of Pemphigus that mimic different forms of the disease, but treatment with Methyl-Prednisolone showed only partial effectiveness.
In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.
18 citations
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November 2012 in “Australasian Journal of Dermatology” This case report describes a 66-year-old man with frontal fibrosing alopecia, a rare lichen planopilaris variant, presenting with scarring alopecia at the hairline and extensive body hair loss.
January 2014 in “Journal of Investigative Dermatology” Proteins like aPKC and PDGF-AA, substances like adenosine and ATP, and adipose-derived stem cells all play important roles in hair growth and health, and could potentially be used to treat hair loss and skin conditions.